Tag

Congenital

28 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
rs118204015	ACADVL	Likely-pathogenic VLCAD missense variant abolishing enzyme activity — carrier...	Liver Fat	Congenital	Strong
rs104894135	CYP17A1 Ser106Pro	Pathogenic missense variant in CYP17A1 causing complete loss of 17α-hydroxyla...	Reproductive Hormones	Congenital	Established
rs104894136	CYP17A1 Arg239*	Pathogenic nonsense variant in CYP17A1 introducing a premature stop codon at ...	Reproductive Hormones	Congenital	Established
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
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
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
rs193922680	ACTC1 ACTC1 p.Glu101Lys	Pathogenic missense variant in cardiac alpha-actin that causes hypertrophic c...	Cardiomyopathy & Structural Heart	Congenital	Established
rs199474703	MYL3 Arg94His (R94H)	Rare pathogenic missense variant in the myosin essential light chain causing ...	Cardiomyopathy & Structural Heart	Congenital	Strong
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
rs72551348	UGT1A1 Q331R	Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bil...	Uric Acid & Kidney Function	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
rs28936415	PMM2 R141H	The most common pathogenic PMM2 variant, causing phosphomannomutase 2 deficie...	Metabolic Enzymes & Rare Disorders	Congenital	Established
rs367543005	ASL p.Gln354Ter (Q354X)	Nonsense mutation in argininosuccinate lyase introducing a premature stop cod...	Metabolic Enzymes & Rare Disorders	Congenital	Established
rs28937900	FKRP L276I	The most common pathogenic mutation in FKRP causing limb-girdle muscular dyst...	Fitness & Body	Congenital	Established
rs397507172	BTD	Rare missense variant near the BTD active site (p.Val89Gly) that likely reduc...	Vitamins & Nutrient Absorption	Congenital	Emerging
rs374304304	ASL ASL Arg94Cys	Pathogenic missense variant in argininosuccinate lyase that reduces urea cycl...	Metabolic Enzymes & Rare Disorders	Congenital	Established
rs397514752	MYBPC3 Gly490Val	Ultra-rare autosomal recessive MYBPC3 missense variant; homozygotes develop s...	Cardiomyopathy & Structural Heart	Congenital	Emerging
rs397516406	MYL2 G162E (Gly162Glu)	Pathogenic missense variant in the ventricular regulatory myosin light chain ...	Cardiomyopathy & Structural Heart	Congenital	Strong
rs80338701	PMM2 F119L	Second most common pathogenic PMM2 allele (p.Phe119Leu); in compound heterozy...	Metabolic Enzymes & Rare Disorders	Congenital	Established
rs181949335	TMPRSS3 p.Ala306Thr (A306T)	Hypomorphic missense variant in the TMPRSS3 serine protease catalytic domain;...	Neurology & Cognition	Congenital	Strong
rs72474224	GJB2 V37I	Connexin 26 missense variant causing partial loss of cochlear gap junction fu...	Neurology & Cognition	Congenital	Established