"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1157680	NM_000169.3(GLA):c.1266G>A (p.Gln422=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 515170	NM_000169.3(GLA):c.1261A>G (p.Met421Val)	GLA, RPL36A-HNRNPH2 (M421V +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 222160	NM_000169.3(GLA):c.1207T>C (p.Leu403=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 217414	NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	GLA, RPL36A-HNRNPH2 (W399S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +4 more	GUncertain significance
Select item 405511	NM_000169.3(GLA):c.1184G>C (p.Gly395Ala)	GLA, RPL36A-HNRNPH2 (G395A +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 281678	NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)	GLA, RPL36A-HNRNPH2 (L394P +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3074904	NM_000169.3(GLA):c.1165C>G (p.Pro389Ala)	GLA, RPL36A-HNRNPH2 (P389A +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 3071842	NM_000169.3(GLA):c.1164C>T (p.Leu388=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GUncertain significance
Select item 450427	NM_000169.3(GLA):c.1127T>A (p.Val376Glu)	GLA, RPL36A-HNRNPH2 (V376E +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 1098158	NM_000169.3(GLA):c.1101C>T (p.Ile367=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 222143	NM_000169.3(GLA):c.1095T>C (p.Tyr365=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +1 more	GLikely benign
Select item 992454	NM_000169.3(GLA):c.1061T>A (p.Ile354Lys)	GLA, RPL36A-HNRNPH2 (I354K +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic
Select item 547092	NM_000169.3(GLA):c.1048G>A (p.Ala350Thr)	GLA, RPL36A-HNRNPH2 (A350T +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 566012	NM_000169.3(GLA):c.1007A>C (p.Asn336Thr)	GLA, RPL36A-HNRNPH2 (N336T +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3073744	NM_000169.3(GLA):c.1001G>A (p.Gly334Glu)	GLA, RPL36A-HNRNPH2 (G334E +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 1116655	NM_000169.3(GLA):c.1000-9G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GConflicting classifications of pathogenicity
Select item 2573377	NM_000169.3(GLA):c.1000-14dup	GLA, RPL36A-HNRNPH2	Duplication (intron variant)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 386764	NM_000169.3(GLA):c.984G>T (p.Gly328=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +2 more	GLikely benign
Select item 3071623	NM_000169.3(GLA):c.972G>A (p.Leu324=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 217406	NM_000169.3(GLA):c.968C>G (p.Pro323Arg)	GLA, RPL36A-HNRNPH2 (P323R +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 3073449	NM_000169.3(GLA):c.913C>T (p.Pro305Ser)	GLA, RPL36A-HNRNPH2 (P305S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 703448	NM_000169.3(GLA):c.891T>C (p.Ser297=)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 222435	NM_000169.3(GLA):c.870G>A (p.Met290Ile)	GLA, RPL36A-HNRNPH2 (M290I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 222434	NM_000169.3(GLA):c.868A>C (p.Met290Leu)	GLA, RPL36A-HNRNPH2 (M290L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GPathogenic/Likely pathogenic
Select item 3074000	NM_000169.3(GLA):c.852G>A (p.Met284Ile)	GLA, RPL36A-HNRNPH2 (M284I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3069453	NM_000169.3(GLA):c.848A>G (p.Gln283Arg)	GLA, RPL36A-HNRNPH2 (Q283R +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 524211	NM_000169.3(GLA):c.831G>C (p.Trp277Cys)	GLA, RPL36A-HNRNPH2 (W277C +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 177871	NM_000169.3(GLA):c.829T>G (p.Trp277Gly)	GLA, RPL36A-HNRNPH2 (W277G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 2748478	NM_000169.3(GLA):c.819T>C (p.Phe273=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 3074042	NM_000169.3(GLA):c.802-14A>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GUncertain significance
Select item 2154757	NM_000169.3(GLA):c.790G>A (p.Asp264Asn)	GLA, RPL36A-HNRNPH2 (D305N +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 288307	NM_000169.3(GLA):c.781G>A (p.Gly261Ser)	GLA, RPL36A-HNRNPH2 (G261S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2757207	NM_000169.3(GLA):c.752A>G (p.Glu251Gly)	GLA, RPL36A-HNRNPH2 (E251G +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 92565	NM_000169.3(GLA):c.734G>T (p.Trp245Leu)	GLA, RPL36A-HNRNPH2 (W286L)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 10730	NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	GLA, RPL36A-HNRNPH2 (N215S +1 more)	Single nucleotide variant (missense variant +2 more)	Hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 237124	NM_000169.3(GLA):c.640-11T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 10768	NM_000169.3(GLA):c.640-801G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy +4 more	GPathogenic
Select item 167141	NM_000169.3(GLA):c.619T>C (p.Tyr207His)	GLA, RPL36A-HNRNPH2 (Y248H)	Single nucleotide variant (missense variant +2 more)	Fabry disease +4 more	GConflicting classifications of pathogenicity
Select item 246587	NM_000169.3(GLA):c.596T>C (p.Val199Ala)	GLA, RPL36A-HNRNPH2 (V199A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3069626	NM_000169.3(GLA):c.595G>T (p.Val199Leu)	GLA, RPL36A-HNRNPH2 (V199L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 1505813	NM_000169.3(GLA):c.579G>C (p.Arg193Ser)	GLA, RPL36A-HNRNPH2 (R193S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3072446	NM_000169.3(GLA):c.543A>G (p.Ala181=)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 3071383	NM_000169.3(GLA):c.493G>A (p.Asp165Asn)	GLA, RPL36A-HNRNPH2 (D165N +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 196225	NM_000169.3(GLA):c.469C>T (p.Gln157Ter)	GLA, RPL36A-HNRNPH2 (Q157* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease +2 more	GPathogenic
Select item 3071747	NM_000169.3(GLA):c.455A>T (p.Tyr152Phe)	GLA, RPL36A-HNRNPH2 (Y152F +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 222254	NM_000169.3(GLA):c.419A>C (p.Lys140Thr)	GLA, RPL36A-HNRNPH2 (K140T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 3073767	NM_000169.3(GLA):c.388A>C (p.Lys130Gln)	GLA, RPL36A-HNRNPH2 (K130Q +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3074286	NM_000169.3(GLA):c.377G>T (p.Ser126Ile)	RPL36A-HNRNPH2, GLA (S126I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2848406	NM_000169.3(GLA):c.370-12C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 520251	NM_000169.3(GLA):c.369+3G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +1 more	GUncertain significance
Select item 217384	NM_000169.3(GLA):c.361G>A (p.Ala121Thr)	GLA, RPL36A-HNRNPH2 (A121T +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 3070692	NM_000169.3(GLA):c.357G>T (p.Gln119His)	GLA, RPL36A-HNRNPH2 (Q119H +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 92550	NM_000169.3(GLA):c.334C>T (p.Arg112Cys)	GLA, RPL36A-HNRNPH2 (R153C)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1728534	NM_000169.3(GLA):c.317T>C (p.Leu106Pro)	GLA, RPL36A-HNRNPH2 (L106P +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 854523	NM_000169.3(GLA):c.313A>G (p.Arg105Gly)	GLA, RPL36A-HNRNPH2 (R105G +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 3072553	NM_000169.3(GLA):c.305C>T (p.Ser102Leu)	GLA, RPL36A-HNRNPH2 (S102L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 3074035	NM_000169.3(GLA):c.260A>T (p.Glu87Val)	GLA, RPL36A-HNRNPH2 (E128V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 222202	NM_000169.3(GLA):c.247G>A (p.Asp83Asn)	GLA, RPL36A-HNRNPH2 (D83N +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 217380	NM_000169.3(GLA):c.239G>A (p.Gly80Asp)	GLA, RPL36A-HNRNPH2 (G80D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1620837	NM_000169.3(GLA):c.237A>G (p.Glu79=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 3075025	NM_000169.3(GLA):c.228G>A (p.Met76Ile)	GLA, RPL36A-HNRNPH2 (M117I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2773413	NM_000169.3(GLA):c.209T>C (p.Met70Thr)	GLA, RPL36A-HNRNPH2 (M70T +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 179177	NM_000169.3(GLA):c.178C>A (p.Pro60Thr)	GLA, RPL36A-HNRNPH2 (P60T)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 512829	NM_000169.3(GLA):c.133C>T (p.Leu45=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (non-coding transcript variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 92539	NM_000169.3(GLA):c.119C>G (p.Pro40Arg)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 3069897	NM_000169.3(GLA):c.78C>T (p.Ile26=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 3074947	NM_000169.3(GLA):c.74A>G (p.Asp25Gly)	GLA, RPL36A-HNRNPH2 (D25G)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 923075	NM_000169.3(GLA):c.73G>A (p.Asp25Asn)	GLA, RPL36A-HNRNPH2 (D25N)	Single nucleotide variant (missense variant +2 more)	Hypertrophic cardiomyopathy 1 +1 more	GUncertain significance
Select item 42459	NM_000169.3(GLA):c.70T>A (p.Trp24Arg)	GLA, RPL36A-HNRNPH2 (W24R)	Single nucleotide variant (missense variant +2 more)	Fabry disease +3 more	GConflicting classifications of pathogenicity
Select item 2721245	NM_000169.3(GLA):c.64G>A (p.Val22Ile)	GLA, RPL36A-HNRNPH2 (V22I)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 917704	NM_000169.3(GLA):c.56T>C (p.Leu19Pro)	GLA, RPL36A-HNRNPH2 (L19P)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GConflicting classifications of pathogenicity
Select item 3075068	NM_000169.3(GLA):c.44C>T (p.Ala15Val)	GLA, RPL36A-HNRNPH2 (A15V)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
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
Select item 3073446	NM_000169.3(GLA):c.19G>C (p.Glu7Gln)	GLA, RPL36A-HNRNPH2 (E7Q)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 2150470	NM_000169.3(GLA):c.18A>G (p.Pro6=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 3070228	NM_000169.3(GLA):c.-1A>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (5 prime UTR variant +2 more)	Fabry disease	GUncertain significance

ClinVar

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Items: 76