"3billion"[submitter] AND "GLA"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687493	NM_000169.3(GLA):c.1190A>G (p.Tyr397Cys)	GLA, RPL36A-HNRNPH2 (Y397C +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3235259	NM_000169.3(GLA):c.1145G>C (p.Cys382Ser)	GLA, RPL36A-HNRNPH2 (C382S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 2444386	NM_000169.3(GLA):c.1049C>T (p.Ala350Val)	GLA, RPL36A-HNRNPH2 (A350V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 92572	NM_000169.3(GLA):c.966C>G (p.Asp322Glu)	GLA, RPL36A-HNRNPH2 (D363E)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 1308629	NM_000169.3(GLA):c.946_947insACGACACATCAGCCCTCAAGCCAAAGCTCTCCTTCAGGATAAGGACG (p.Val316fs)	GLA, RPL36A-HNRNPH2 (V316fs +1 more)	Insertion (frameshift variant +2 more)	Fabry disease	GPathogenic
Select item 1712255	NM_000169.3(GLA):c.936G>C (p.Gln312His)	RPL36A-HNRNPH2, GLA (Q312H +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic
Select item 10715	NM_000169.3(GLA):c.902G>A (p.Arg301Gln)	RPL36A-HNRNPH2, GLA (R301Q +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +3 more	GPathogenic
Select item 2444391	NM_000169.3(GLA):c.796G>A (p.Asp266Asn)	GLA, RPL36A-HNRNPH2 (D266N +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic
Select item 3248613	NM_000169.3(GLA):c.781G>T (p.Gly261Cys)	GLA, RPL36A-HNRNPH2 (G261C +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 2444327	NM_000169.3(GLA):c.779G>T (p.Gly260Val)	GLA, RPL36A-HNRNPH2 (G260V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 925251	NM_000169.3(GLA):c.717A>G (p.Ile239Met)	GLA, RPL36A-HNRNPH2 (I239M +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GConflicting classifications of pathogenicity
Select item 3024127	NM_000169.3(GLA):c.195-89_712del	RPL36A-HNRNPH2, GLA	Deletion (intron variant +2 more)	Fabry disease	GLikely pathogenic
Select item 1687101	NM_000169.3(GLA):c.708G>A (p.Trp236Ter)	GLA, RPL36A-HNRNPH2 (W236* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease	GLikely pathogenic
Select item 10732	NM_000169.3(GLA):c.680G>A (p.Arg227Gln)	GLA, RPL36A-HNRNPH2 (R268Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 1327541	NM_000169.3(GLA):c.656T>C (p.Ile219Thr)	GLA, RPL36A-HNRNPH2 (I219T +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 1324466	NM_000169.3(GLA):c.559A>G (p.Met187Val)	GLA, RPL36A-HNRNPH2 (M187V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GLikely pathogenic
Select item 1333104	NM_000169.3(GLA):c.553A>G (p.Lys185Glu)	GLA, RPL36A-HNRNPH2 (K185E +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 1199178	NM_000169.3(GLA):c.239G>C (p.Gly80Ala)	RPL36A-HNRNPH2, GLA (G80A +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely benign
Select item 163548	NM_000169.3(GLA):c.196G>C (p.Glu66Gln)	GLA, RPL36A-HNRNPH2 (E66Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1334875	NM_000169.3(GLA):c.195-2A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant +1 more)	Fabry disease	GLikely pathogenic
Select item 2507390	NM_000169.3(GLA):c.181G>C (p.Asp61His)	GLA, RPL36A-HNRNPH2 (D61H)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 1325409	NM_000169.3(GLA):c.178C>T (p.Pro60Ser)	RPL36A-HNRNPH2, GLA (P60S)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 1199177	NM_000169.3(GLA):c.170A>C (p.Gln57Pro)	GLA, RPL36A-HNRNPH2 (Q57P)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 1308628	NM_000169.3(GLA):c.135_142del (p.His46fs)	GLA, RPL36A-HNRNPH2 (H46fs)	Deletion (frameshift variant +2 more)	Fabry disease	GLikely pathogenic
Select item 1327540	NM_000169.3(GLA):c.61C>T (p.Leu21Phe)	GLA, RPL36A-HNRNPH2 (L21F)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely benign
Select item 918786	NM_000169.3(GLA):c.43G>A (p.Ala15Thr)	GLA, RPL36A-HNRNPH2 (A15T)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance

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Items: 26