Tag

Genetic Counseling

151 genetic variants with this tag.

RSID	Gene	Description	Category
rs1057516616	F11 c.25_28del (p.His9fs)	Frameshift deletion in coagulation factor XI causing complete loss of the FXI...	Coagulation & Clotting Factors	Genetic Counseling	Strong
rs104894369	MYL2 Arg58Gln	Pathogenic missense variant in the cardiac regulatory myosin light chain caus...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs1064793792	SERPING1	Frameshift deletion in SERPING1 eliminating C1-inhibitor function — causes he...	B-Cell Immunity & Antibody-Mediated Disease	Genetic Counseling	Established
rs113994167	ACADVL p.Val283Ala (V283A)	Most common VLCAD deficiency variant in the US, causing mild late-onset disea...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs104894502	TPM1 E180G	Rare pathogenic missense variant in cardiac alpha-tropomyosin causing familia...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs1064793917	SERPING1	Frameshift deletion in SERPING1 (p.Lys390fs) abolishing C1-inhibitor producti...	B-Cell Immunity & Antibody-Mediated Disease	Genetic Counseling	Established
rs118204015	ACADVL	Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier...	Liver Fat	Genetic Counseling	Strong
rs121434288	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Iron & Mineral Transport	Genetic Counseling	Established
rs121909548	SERPINC1 Cambridge II (A384S)	Missense variant in antithrombin (SERPINC1) that impairs heparin-catalyzed th...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Strong
rs121965063	F11 Glu117Stop (Type II)	Ashkenazi Jewish founder nonsense mutation in coagulation factor XI causing s...	Coagulation & Clotting Factors	Genetic Counseling	Established
rs104894503	TPM1 D175N (Asp175Asn)	Pathogenic alpha-tropomyosin missense variant that increases thin filament ca...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs118204017	ACADVL	ACADVL missense variant (p.Phe458Leu) classified likely pathogenic for VLCAD ...	Liver Fat	Genetic Counseling	Strong
rs121965064	F11 Phe301Leu (Type III)	Ashkenazi Jewish founder missense mutation in coagulation factor XI causing i...	Coagulation & Clotting Factors	Genetic Counseling	Established
rs104894138	CYP17A1 Arg96Trp (R96W)	Pathogenic missense variant abolishing 17α-hydroxylase/17,20-lyase activity, ...	Reproductive Hormones	Genetic Counseling	Established
rs104894654	DTNA P121L	Missense variant in alpha-dystrobrevin disrupting the EF-hand calcium-binding...	Cardiomyopathy & Structural Heart	Genetic Counseling	Emerging
rs1060502576	BMPR2	Rare stop-gain variant in BMPR2 (p.Trp466Ter) that truncates the kinase domai...	Vascular Inflammation & Remodeling	Genetic Counseling	Established
rs118204437	GALNS Arg386Cys	Pathogenic missense variant abolishing GALNS enzyme activity; biallelic carri...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs121434290	SLC39A4 SLC39A4 p.Asn106Lys	Pathogenic missense variant in the ZIP4 intestinal zinc transporter; homozygo...	Iron & Mineral Transport	Genetic Counseling	Established
rs121909569	SERPINC1 Ser148Pro	Likely pathogenic missense variant in antithrombin III; the G allele converts...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Strong
rs137853964	LDLR Val827Ile / Val827Phe	LDLR missense variant at position 827 within the cytoplasmic NPXY internaliza...	Atherogenic Lipoproteins	Genetic Counseling	Moderate
rs104894005	GCK Glu279Ter (MODY2)	Pathogenic glucokinase nonsense variant introducing a premature stop codon th...	Blood Sugar & Diabetes	Genetic Counseling	Established
rs104894664	TTR Ala45Thr (A25T)	Rare pathogenic TTR missense variant causing hereditary transthyretin amyloid...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs1060502581	BMPR2	Nonsense variant in BMPR2 introducing a premature stop codon (p.Arg321Ter) th...	Vascular Inflammation & Remodeling	Genetic Counseling	Established
rs119103258	PYGM	Pathogenic missense variant in muscle glycogen phosphorylase causing post-tra...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs121434291	SLC39A4 SLC39A4 zinc transporter variant	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Iron & Mineral Transport	Genetic Counseling	Established
rs121918473	PROS1 Asn258Ser	Pathogenic PROS1 missense variant in the fourth EGF domain of protein S; hete...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Strong
rs199473521	KCNH2 K595N	Ultra-rare KCNH2 missense variant substituting asparagine for lysine at posit...	Arrhythmia & Heart Rhythm	Genetic Counseling	Moderate
rs104894007	GCK Thr228Met (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Genetic Counseling	Established
rs104894142	CYP17A1 R362C (Arg362Cys)	Pathogenic CYP17A1 missense variant causing combined 17α-hydroxylase/17,20-ly...	Reproductive Hormones	Genetic Counseling	Established
rs104894797	DMD Arg3182Ter (R3182*)	Pathogenic nonsense variant in dystrophin creating a premature stop codon at ...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs121434280	ACADM ACADM Y67H	Pathogenic missense variant in the MCAD enzyme causing a temperature-sensitiv...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Strong
rs121434292	SLC39A4 Arg95Cys	Pathogenic missense variant in ZIP4, the primary intestinal zinc transporter,...	Iron & Mineral Transport	Genetic Counseling	Established
rs121918474	PROS1 K196E (Lys196Glu)	Pathogenic missense variant in protein S causing autosomal dominant thromboph...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Established
rs104894008	GCK Gly261Arg (MODY2)	Pathogenic glucokinase missense variant that nearly abolishes enzyme activity...	Blood Sugar & Diabetes	Genetic Counseling	Established
rs104894143	CYP17A1 W406R (Trp406Arg)	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Genetic Counseling	Established
rs104894805	EMD Pro183His (P183H)	Pathogenic missense variant in emerin that weakens nuclear lamina interaction...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs121434281	ACADM S245L	Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medi...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs121434293	SLC39A4 SLC39A4 Gln278His	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing a...	Iron & Mineral Transport	Genetic Counseling	Established
rs104894009	GCK Arg191Trp (MODY2)	Pathogenic glucokinase missense variant that raises the beta-cell glucose sen...	Blood Sugar & Diabetes	Genetic Counseling	Established
rs121434282	ACADM Arg281Thr	Pathogenic missense variant in the MCAD enzyme causing medium-chain acyl-CoA ...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs28937317	SCN5A N1325S	Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Genetic Counseling	Established
rs104894011	GCK Glu265Lys (MODY2)	Pathogenic glucokinase missense variant causing MODY2 — mild, stable fasting ...	Blood Sugar & Diabetes	Genetic Counseling	Established
rs1057518309	DSP Arg451Gly	Rare pathogenic missense variant in desmoplakin that enhances calpain-mediate...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs121434369	GCDH R402W (Arg402Trp)	Most common European allele for glutaric acidemia type 1; complete loss of GC...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs28937319	SCN5A SCN5A Cardiac Sodium Channel Variant 2	Rare loss-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Genetic Counseling	Strong
rs111517471	PKP2	Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs201363394	SERPING1 Arg400Cys	Pathogenic missense variant in SERPING1 encoding C1-inhibitor; the Arg400Cys ...	B-Cell Immunity & Antibody-Mediated Disease	Genetic Counseling	Established
rs11570112	MYBPC3 Gln998X	Pathogenic truncating variant in cardiac myosin-binding protein C causing hap...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs121908677	SLC7A7 SLC7A7 p.Gly54Val	Pathogenic missense variant in the y+LAT1 cationic amino acid transporter; ho...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs2968863	KCNH2	Intergenic variant near KCNH2 (hERG potassium channel) at 7q36.1 that shorten...	Arrhythmia & Heart Rhythm	Genetic Counseling	Moderate
rs137852641	NOTCH3	Pathogenic NOTCH3 missense variant p.Arg332Cys that alters the cysteine count...	Vascular Inflammation & Remodeling	Genetic Counseling	Established
rs201038679	ATP7B P992L	Pathogenic missense variant in the copper transporter ATP7B; heterozygous car...	Iron & Mineral Transport	Genetic Counseling	Established
rs128627256	DMD Arg2905Ter (R2905X)	Nonsense variant in dystrophin that eliminates full-length protein, causing X...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs137853096	HSD17B4 Gly16Ser	Pathogenic missense variant in D-bifunctional protein (p.Gly16Ser) disrupting...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs182506368	SLC39A4 SLC39A4 p.Ala99Thr	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing h...	Vitamins & Nutrient Absorption	Genetic Counseling	Established
rs201007090	F11 Trp519Stop	Nonsense mutation in coagulation factor XI creating a premature stop codon, c...	Coagulation & Clotting Factors	Genetic Counseling	Established
rs397508068	KCNQ1 Phe340del	Pathogenic in-frame 3-bp deletion in the KCNQ1 potassium channel that removes...	Arrhythmia & Heart Rhythm	Genetic Counseling	Established
rs137853097	HSD17B4 N457Y	Missense variant in the enoyl-CoA hydratase domain of D-bifunctional protein;...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs140597	FBN1 D1113G	Pathogenic missense variant in fibrillin-1 replacing the calcium-coordinating...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs397508072	KCNQ1 Q356X	Nonsense mutation in the cardiac IKs potassium channel causing premature prot...	Arrhythmia & Heart Rhythm	Genetic Counseling	Established
rs142967670	GCDH R88C	Pathogenic missense variant in glutaryl-CoA dehydrogenase; homozygosity cause...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs1600482909	JPH2 Ser101Arg	Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sar...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs397508075	KCNQ1 KCNQ1 Long QT Type 1 Variant 3	Pathogenic nonsense variant (Q359X) in KCNQ1 that truncates the IKs potassium...	Arrhythmia & Heart Rhythm	Genetic Counseling	Established
rs146582474	SLC7A7	Finnish founder splice acceptor mutation abolishing y+LAT1 transport activity...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs187830361	MYBPC3 Trp792Arg (W792R)	Ultra-rare pathogenic missense variant in the C6 fibronectin domain of cardia...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs267607352	VWF W1745C	Missense variant in the VWF A3 collagen-binding domain causing isolated colla...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Strong
rs397508077	KCNQ1 Long QT Type 1 Variant 4 (c.1124_1127del)	Pathogenic 4bp frameshift deletion in KCNQ1 that eliminates the IKs potassium...	Arrhythmia & Heart Rhythm	Genetic Counseling	Established
rs193922239	FBN1	Pathogenic missense variant in fibrillin-1 replacing glycine 2627 with argini...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs267607353	VWF S1783A	Rare pathogenic missense variant in the VWF A3 collagen-binding domain causin...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Strong
rs1801175	G6PC1	Pathogenic missense variant in glucose-6-phosphatase catalytic subunit 1 caus...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs193922385	MYBPC3 Arg177Cys	A rare missense variant in the C1 immunoglobulin domain of cardiac myosin-bin...	Cardiomyopathy & Structural Heart	Genetic Counseling	Emerging
rs193922339	GCK	Likely-pathogenic GCK missense variant (p.Phe316Tyr) causing glucokinase loss...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Strong
rs193922680	ACTC1 ACTC1 p.Glu101Lys	Pathogenic missense variant in cardiac alpha-actin that causes hypertrophic c...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs199474703	MYL3 Arg94His (R94H)	Rare pathogenic missense variant in the myosin essential light chain causing ...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs200788251	ACADVL ACADVL p.Gly289Arg	Pathogenic missense variant in ACADVL encoding VLCAD; heterozygous carriers a...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs201457110	DCHS1	Rare pathogenic missense variant in DCHS1 (R2513H) causing mitral valve prola...	Cardiomyopathy & Structural Heart	Genetic Counseling	Moderate
rs369504169	PROC p.Arg42His (c.125G>A)	Rare missense variant in the PROC gene encoding protein C; the A allele subst...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Strong
rs28942074	ATP7B R778L	Pathogenic missense variant in the hepatic copper transporter ATP7B that abol...	Vitamins & Nutrient Absorption	Genetic Counseling	Established
rs267606908	MYH7 D906G	Pathogenic beta-myosin heavy chain missense variant causing a hypercontractil...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs2531693353	HSD17B4 c.715-1G>A (splice acceptor)	Rare splice acceptor variant disrupting intron 9 of D-bifunctional protein; b...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs36211723	MYBPC3 Asp770Asn (c.2308G>A)	Rare pathogenic missense variant at the last nucleotide of MYBPC3 exon 23, ca...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs369296618	MMAB	Nonsense variant in MMAB creating a premature stop codon (Q234*) that impairs...	Vitamins & Nutrient Absorption	Genetic Counseling	Established
rs41276738	VWF p.Arg854Gln (R854Q) type 2N	Missense variant in the VWF D' domain that abolishes high-affinity Factor VII...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Established
rs137853334	HNF4A HNF4A MODY1 Variant	Pathogenic nonsense variant in HNF4A causing MODY1 — a progressive, autosomal...	Blood Sugar & Diabetes	Genetic Counseling	Established
rs267606898	MT-ND5	Heteroplasmic missense variant in the mitochondrially encoded ND5 subunit of ...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Strong
rs371898076	MYH7 Arg663His (R663H)	Pathogenic missense variant in the myosin motor domain causing hypertrophic c...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs61748497	VWF C1060R	Pathogenic missense in the VWF D3 domain that abolishes factor VIII binding; ...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Established
rs200330818	GDF2	Rare missense variant in BMP9/GDF2 that impairs processing of the mature BMP9...	Vascular Inflammation & Remodeling	Genetic Counseling	Moderate
rs267606993	PYGM PYGM Met1Val (start-loss)	Pathogenic start-codon variant in muscle glycogen phosphorylase; homozygous o...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs375882485	MYBPC3 Arg502Trp	Pathogenic missense variant in the C3 domain of cardiac myosin-binding protei...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs61750579	VWF V1607D	Pathogenic missense variant in von Willebrand factor A2 domain adjacent to th...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Strong
rs61750581	VWF S1613P	A2 domain missense variant in von Willebrand factor associated with type 2A v...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Moderate
rs730882094	LDLR Asn316Ser (N316S)	Rare likely-pathogenic missense variant in the LDLR EGF-like repeat domain ca...	Atherogenic Lipoproteins	Genetic Counseling	Strong
rs28933978	OTC R141Q (Arg141Gln)	The most common OTC point mutation, abolishing ornithine transcarbamylase enz...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs396514912	OBSCN Protein-truncating variant	Protein-truncating frameshift deletion in obscurin; homozygous or compound he...	Cardiomyopathy & Structural Heart	Genetic Counseling	Moderate
rs397507172	BTD	Rare missense variant near the BTD active site (p.Val89Gly) that likely reduc...	Vitamins & Nutrient Absorption	Genetic Counseling	Emerging
rs61750584	VWF I1628T	Missense variant in the VWF A2 domain that destabilizes the protein and incre...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Established
rs28934568	TGFBR2	Pathogenic missense variant in TGFBR2 (Leu308Pro) causing Loeys-Dietz syndrom...	Vascular Inflammation & Remodeling	Genetic Counseling	Established
rs28936415	PMM2 R141H	The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficie...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs397514752	MYBPC3 Gly490Val	Ultra-rare autosomal recessive MYBPC3 missense variant; homozygotes develop s...	Cardiomyopathy & Structural Heart	Genetic Counseling	Emerging
rs763625913	LDLR Q770* (c.2308C>T)	Rare pathogenic nonsense variant in the LDL receptor gene that abolishes rece...	Atherogenic Lipoproteins	Genetic Counseling	Established
rs28936687	ACVRL1	Pathogenic missense variant in ALK1 kinase domain causing hereditary hemorrha...	Vascular Inflammation & Remodeling	Genetic Counseling	Established
rs367543005	ASL p.Gln354Ter (Q354X)	Nonsense mutation in argininosuccinate lyase introducing a premature stop cod...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs397507174	BTD BTD Tyr190Cys	Pathogenic missense variant in biotinidase that abolishes biotin recycling; h...	Vitamins & Nutrient Absorption	Genetic Counseling	Established
rs397515953	MYBPC3	Rare pathogenic/likely pathogenic missense variant in the C5 immunoglobulin-l...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs61750595	VWF R1659X	Nonsense mutation creating a premature stop codon in von Willebrand factor; h...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Established
rs370793608	ALDOB ALDOB Y204X	Nonsense variant in the aldolase B gene creating a premature stop codon at po...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs397516127	MYH7 Arg663Cys (R663C)	Pathogenic missense variant in the beta-myosin heavy chain motor domain causi...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs374304304	ASL ASL Arg94Cys	Pathogenic missense variant in argininosuccinate lyase that reduces urea cycl...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs397516394	TPM1 Met281Val	Ultra-rare TPM1 missense variant of uncertain significance found in hypertrop...	Cardiomyopathy & Structural Heart	Genetic Counseling	Emerging
rs398123138	BTD	Pathogenic 5-bp frameshift deletion in the biotinidase enzyme gene, eliminati...	Vitamins & Nutrient Absorption	Genetic Counseling	Established
rs61750630	VWF C2362F	Pathogenic missense variant in von Willebrand factor causing intracellular re...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Strong
rs397516406	MYL2 G162E (Gly162Glu)	Pathogenic missense variant in the ventricular regulatory myosin light chain ...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs61751290	VWF c.7437+1G>T	Splice donor variant in VWF intron 43 that destroys the canonical GT dinucleo...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Emerging
rs28937900	FKRP L276I	The most common pathogenic mutation in FKRP causing limb-girdle muscular dyst...	Fitness & Body	Genetic Counseling	Established
rs387906249	ACADVL c.343del (p.Glu115Lysfs*2)	Pathogenic ACADVL frameshift deletion causing premature protein truncation; h...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs397516407	MYL2 Glu163Ala	Pathogenic missense variant in the regulatory myosin light chain gene; hetero...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs61753993	VWF D141G	Missense variant in von Willebrand factor (p.Asp141Gly) associated with type ...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Moderate
rs397516919	DSP DSP Trp550Ter	Nonsense variant in desmoplakin that truncates the protein at codon 550, caus...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs61754002	VWF Y357X	Nonsense mutation creating a premature stop codon in von Willebrand factor; n...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Established
rs61754010	VWF N528S	Pathogenic missense variant in the VWF propeptide D2 domain that introduces a...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Strong
rs397516929	DSP Ser987Pro	Rare missense variant in desmoplakin that likely disrupts desmosomal integrit...	Cardiomyopathy & Structural Heart	Genetic Counseling	Emerging
rs57035593	TC2N	Intronic variant in TC2N (tandem C2 domains, nuclear) robustly associated wit...	Coronary Artery Disease & Atherosclerosis	Genetic Counseling	Strong
rs61754011	VWF Gly550Arg	Pathogenic missense variant in the VWF propeptide D2 domain that prevents hig...	Von Willebrand & Anticoagulant Proteins	Genetic Counseling	Established
rs72552297	OTC Asn10fs (c.29_32del)	Frameshift deletion in the OTC gene that eliminates ornithine transcarbamylas...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs193922485	HNF1B	Rare HNF1B splice-region intronic variant of uncertain significance, found ne...	Blood Sugar & Diabetes	Genetic Counseling	Emerging
rs397516933	DSP DSP Gln1277Ter	Nonsense variant in desmoplakin that truncates the protein at codon 1277, cau...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs193929374	GCK GCK Ala378Val (MODY2)	Pathogenic missense variant in glucokinase that raises the glucose set-point ...	Blood Sugar & Diabetes	Genetic Counseling	Established
rs28933979	TTR Val30Met (V30M)	Most common pathogenic TTR variant causing hereditary transthyretin amyloidos...	Longevity & Aging	Genetic Counseling	Established
rs397516943	DSP	Pathogenic DSP nonsense variant creating a premature stop codon at position 1...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs397516946	DSP DSP Q1810X	Pathogenic stop-gain in desmoplakin's tail domain; one copy truncates the pro...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs80338701	PMM2 F119L	Second most common pathogenic PMM2 allele (p.Phe119Leu); in compound heterozy...	Metabolic Enzymes & Rare Disorders	Genetic Counseling	Established
rs193922916	APP A673V (Aβ A2V)	Recessive pathogenic APP missense variant causing early-onset Alzheimer's dis...	Neurology & Cognition	Genetic Counseling	Strong
rs41309766	NOTCH1 c.4512del (p.Cys1505fs)	Pathogenic frameshift deletion in NOTCH1 causing haploinsufficiency; carriers...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs587782951	JPH2 Thr161Lys	Pathogenic missense variant in junctophilin-2 that disrupts sarcoplasmic reti...	Cardiomyopathy & Structural Heart	Genetic Counseling	Strong
rs74315329	MYOC Gln368Ter (Q368X)	Pathogenic nonsense variant in myocilin causing autosomal dominant juvenile a...	Coronary Artery Disease & Atherosclerosis	Genetic Counseling	Established
rs71180793	OBSCN OBSCN c.23838del	Frameshift deletion in obscurin, a giant sarcomeric scaffold protein; heteroz...	Cardiomyopathy & Structural Heart	Genetic Counseling	Emerging
rs74315379	TNNT2 R141W / R151W	Rare pathogenic missense variant in cardiac troponin T causing calcium desens...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs767603	LOC105378189	Regulatory variant near LOC105378189 non-coding RNA locus on chromosome 14q23...	Coronary Artery Disease & Atherosclerosis	Genetic Counseling	Moderate
rs9298506	SOX17	Regulatory tag variant near SOX17 at chromosome 8q11.23 associated with intra...	Vascular Inflammation & Remodeling	Genetic Counseling	Strong
rs76992529	TTR Val142Ile (V142I)	Most common amyloidogenic TTR variant in African Americans, causing late-onse...	Cardiomyopathy & Structural Heart	Genetic Counseling	Established
rs587776949	NDUFS4	Frameshift deletion in NDUFS4 abolishing mitochondrial complex I function; ho...	Longevity & Aging	Genetic Counseling	Established
rs397514580	GCK GCK MODY2 E339K	Pathogenic glucokinase missense variant causing maturity-onset diabetes of th...	Blood Sugar & Diabetes	Genetic Counseling	Strong
rs61761208	PSEN2 N141Y	Missense mutation replacing asparagine with tyrosine at position 141 of prese...	Neurology & Cognition	Genetic Counseling	Strong
rs63749884	PSEN2 M239I	Pathogenic missense variant in PSEN2 (presenilin-2) causing autosomal dominan...	Neurology & Cognition	Genetic Counseling	Strong
rs63749885	PSEN1 H163Y	Pathogenic PSEN1 missense mutation (His163Tyr) that impairs gamma-secretase p...	Neurology & Cognition	Genetic Counseling	Established
rs63749891	PSEN1 R278I / R278T	Pathogenic PSEN1 missense variant at codon 278 that disrupts gamma-secretase ...	Neurology & Cognition	Genetic Counseling	Established
rs63749911	PSEN1 F177L	Rare pathogenic PSEN1 missense variant substituting leucine for phenylalanine...	Neurology & Cognition	Genetic Counseling	Strong
rs63750066	APP A713T (Calabrian)	Rare pathogenic missense variant in APP at the gamma-secretase cleavage site ...	Neurology & Cognition	Genetic Counseling	Strong
rs63751122	APP L723P (Australian)	Rare pathogenic missense variant in APP near the gamma-secretase cleavage sit...	Neurology & Cognition	Genetic Counseling	Strong
rs63751287	PSEN1 M233V	Pathogenic missense mutation in PSEN1 (presenilin-1) causing autosomal domina...	Neurology & Cognition	Genetic Counseling	Established