Tag

Congenital

48 genetic variants with this tag.

RSID	Gene	Description	Category
rs104894085	STAR Q258X (c.772C>T)	Nonsense mutation in STAR that abolishes steroidogenic acute regulatory prote...	Reproductive Hormones	Congenital	Established
rs104894135	CYP17A1 Ser106Pro	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Congenital	Established
rs104894369	MYL2 Arg58Gln	Pathogenic missense variant in the cardiac regulatory myosin light chain caus...	Cardiomyopathy & Structural Heart	Congenital	Established
rs104894136	CYP17A1 Arg239*	Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at ...	Reproductive Hormones	Congenital	Established
rs118204015	ACADVL	Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier...	Liver Fat	Congenital	Strong
rs121434289	SLC39A4 Gly374Arg	Missense variant in ZIP4 zinc transporter causing total loss of intestinal zi...	Iron & Mineral Transport	Congenital	Established
rs104894654	DTNA P121L	Missense variant in alpha-dystrobrevin disrupting the EF-hand calcium-binding...	Cardiomyopathy & Structural Heart	Congenital	Emerging
rs104894141	CYP17A1 W17X	Rare pathogenic nonsense variant in CYP17A1 causing complete abolition of 17α...	Reproductive Hormones	Congenital	Established
rs104894142	CYP17A1 R362C (Arg362Cys)	Pathogenic CYP17A1 missense variant causing combined 17α-hydroxylase/17,20-ly...	Reproductive Hormones	Congenital	Established
rs2235373	IRF6	Intronic IRF6 variant associated with non-syndromic cleft lip with or without...	Dental & Oral Health	Congenital	Moderate
rs104894143	CYP17A1 W406R (Trp406Arg)	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Congenital	Established
rs104894396	GJB2 W24X	Stop-gain mutation eliminating connexin 26 function; the most common GJB2 dea...	Neurology & Cognition	Congenital	Established
rs104894805	EMD Pro183His (P183H)	Pathogenic missense variant in emerin that weakens nuclear lamina interaction...	Cardiomyopathy & Structural Heart	Congenital	Established
rs121434293	SLC39A4 SLC39A4 Gln278His	Pathogenic missense variant in the ZIP4 intestinal zinc transporter causing a...	Iron & Mineral Transport	Congenital	Established
rs10514168	TSHZ1	Intergenic variant downstream of TSHZ1, a transcription factor essential for ...	Neurology & Cognition	Congenital	Strong
rs137852690	STAR A218V	STAR missense variant abolishing steroidogenic activity; homozygous carriers ...	Reproductive Hormones	Congenital	Established
rs1421405659	MYBPC1 Leu259Pro	Ultra-rare dominant missense variant in slow skeletal myosin-binding protein ...	Fitness & Body	Congenital	Strong
rs397508075	KCNQ1 KCNQ1 Long QT Type 1 Variant 3	Pathogenic nonsense variant (Q359X) in KCNQ1 that truncates the IKs potassium...	Arrhythmia & Heart Rhythm	Congenital	Established
rs193922680	ACTC1 ACTC1 p.Glu101Lys	Pathogenic missense variant in cardiac alpha-actin that causes hypertrophic c...	Cardiomyopathy & Structural Heart	Congenital	Established
rs28934880	HSD3B2 Ala10Glu	Missense variant abolishing 3β-hydroxysteroid dehydrogenase type 2 activity; ...	Reproductive Hormones	Congenital	Strong
rs11627387	MTHFD1	Intronic variant in the cytoplasmic trifunctional folate enzyme MTHFD1, assoc...	Methylation & Detox	Congenital	Moderate
rs199474703	MYL3 Arg94His (R94H)	Rare pathogenic missense variant in the myosin essential light chain causing ...	Cardiomyopathy & Structural Heart	Congenital	Strong
rs36211723	MYBPC3 Asp770Asn (c.2308G>A)	Rare pathogenic missense variant at the last nucleotide of MYBPC3 exon 23, ca...	Cardiomyopathy & Structural Heart	Congenital	Strong
rs28933978	OTC R141Q (Arg141Gln)	The most common OTC point mutation, abolishing ornithine transcarbamylase enz...	Metabolic Enzymes & Rare Disorders	Congenital	Established
rs397507172	BTD	Rare missense variant near the BTD active site (p.Val89Gly) that likely reduc...	Vitamins & Nutrient Absorption	Congenital	Emerging
rs72551348	UGT1A1 Q331R	Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bil...	Uric Acid & Kidney Function	Congenital	Strong
rs28934568	TGFBR2	Pathogenic missense variant in TGFBR2 (Leu308Pro) causing Loeys-Dietz syndrom...	Vascular Inflammation & Remodeling	Congenital	Established
rs28936415	PMM2 R141H	The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficie...	Metabolic Enzymes & Rare Disorders	Congenital	Established
rs397514752	MYBPC3 Gly490Val	Ultra-rare autosomal recessive MYBPC3 missense variant; homozygotes develop s...	Cardiomyopathy & Structural Heart	Congenital	Emerging
rs367543005	ASL p.Gln354Ter (Q354X)	Nonsense mutation in argininosuccinate lyase introducing a premature stop cod...	Metabolic Enzymes & Rare Disorders	Congenital	Established
rs397515953	MYBPC3	Rare pathogenic/likely pathogenic missense variant in the C5 immunoglobulin-l...	Cardiomyopathy & Structural Heart	Congenital	Strong
rs760695410	CYP17A1 p.His373Leu	Pathogenic missense variant in CYP17A1 disrupting the heme-binding region of ...	Reproductive Hormones	Congenital	Established
rs374304304	ASL ASL Arg94Cys	Pathogenic missense variant in argininosuccinate lyase that reduces urea cycl...	Metabolic Enzymes & Rare Disorders	Congenital	Established
rs80358216	HSD3B2 Trp171X	Pathogenic nonsense variant introducing a premature stop codon at position 17...	Reproductive Hormones	Congenital	Established
rs397516406	MYL2 G162E (Gly162Glu)	Pathogenic missense variant in the ventricular regulatory myosin light chain ...	Cardiomyopathy & Structural Heart	Congenital	Strong
rs28937900	FKRP L276I	The most common pathogenic mutation in FKRP causing limb-girdle muscular dyst...	Fitness & Body	Congenital	Established
rs387906249	ACADVL c.343del (p.Glu115Lysfs*2)	Pathogenic ACADVL frameshift deletion causing premature protein truncation; h...	Metabolic Enzymes & Rare Disorders	Congenital	Established
rs397516407	MYL2 Glu163Ala	Pathogenic missense variant in the regulatory myosin light chain gene; hetero...	Cardiomyopathy & Structural Heart	Congenital	Strong
rs72552297	OTC Asn10fs (c.29_32del)	Frameshift deletion in the OTC gene that eliminates ornithine transcarbamylas...	Metabolic Enzymes & Rare Disorders	Congenital	Established
rs397516933	DSP DSP Gln1277Ter	Nonsense variant in desmoplakin that truncates the protein at codon 1277, cau...	Cardiomyopathy & Structural Heart	Congenital	Strong
rs181949335	TMPRSS3 p.Ala306Thr (A306T)	Hypomorphic missense variant in the TMPRSS3 serine protease catalytic domain;...	Neurology & Cognition	Congenital	Strong
rs80338701	PMM2 F119L	Second most common pathogenic PMM2 allele (p.Phe119Leu); in compound heterozy...	Metabolic Enzymes & Rare Disorders	Congenital	Established
rs41309766	NOTCH1 c.4512del (p.Cys1505fs)	Pathogenic frameshift deletion in NOTCH1 causing haploinsufficiency; carriers...	Cardiomyopathy & Structural Heart	Congenital	Strong
rs72474224	GJB2 V37I	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Neurology & Cognition	Congenital	Established
rs727503493	TMPRSS3 c.208delC (p.His70Thrfs*19)	Frameshift deletion in TMPRSS3 causing premature stop at codon 88; a severe p...	Neurology & Cognition	Congenital	Strong
rs80338939	GJB2 35delG	The most common cause of autosomal recessive nonsyndromic hearing loss in Eur...	Neurology & Cognition	Congenital	Established
rs80338942	GJB2 167delT	The most common GJB2 deafness allele in the Ashkenazi Jewish population (~4% ...	Neurology & Cognition	Congenital	Established
rs80338943	GJB2 c.235delC	Frameshift deletion eliminating connexin 26 function; the most common GJB2 de...	Neurology & Cognition	Congenital	Established