"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GLA"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198402	NM_000169.3(GLA):c.1235_1236del (p.Thr412fs)	GLA, RPL36A-HNRNPH2 (T412fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
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 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 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 449838	NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn)	GLA, RPL36A-HNRNPH2 (Y365N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 222141	NM_000169.3(GLA):c.1088G>A (p.Arg363His)	GLA, RPL36A-HNRNPH2 (R363H +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
Select item 198401	NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	GLA, RPL36A-HNRNPH2 (R363C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324474	NM_000169.3(GLA):c.1068dup (p.Gln357fs)	GLA, RPL36A-HNRNPH2 (Q357fs +1 more)	Duplication (frameshift variant +2 more)	Fabry disease +1 more	GLikely pathogenic
Select item 10742	NM_000169.3(GLA):c.1025G>A (p.Arg342Gln)	GLA, RPL36A-HNRNPH2 (R383Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 42450	NM_000169.3(GLA):c.1000-14T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +2 more	GLikely benign
Select item 217404	NM_000169.3(GLA):c.947T>C (p.Val316Ala)	GLA, RPL36A-HNRNPH2 (V316A +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
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 1396452	NM_000169.3(GLA):c.888G>T (p.Met296Ile)	GLA, RPL36A-HNRNPH2 (M296I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic
Select item 10717	NM_000169.3(GLA):c.886A>G (p.Met296Val)	GLA, RPL36A-HNRNPH2 (M296V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 10774	NM_000169.3(GLA):c.815A>G (p.Asn272Ser)	GLA, RPL36A-HNRNPH2 (N272S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic/Likely pathogenic
Select item 180842	NM_000169.3(GLA):c.801G>A (p.Met267Ile)	GLA, RPL36A-HNRNPH2 (M267I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
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 562436	NM_000169.3(GLA):c.730G>C (p.Asp244His)	GLA, RPL36A-HNRNPH2 (D244H +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 217396	NM_000169.3(GLA):c.724A>G (p.Ile242Val)	GLA, RPL36A-HNRNPH2 (I242V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GUncertain significance
Select item 222371	NM_000169.3(GLA):c.718_719del (p.Lys240fs)	GLA, RPL36A-HNRNPH2 (K240fs +1 more)	Deletion (frameshift variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 10733	NM_000169.3(GLA):c.679C>T (p.Arg227Ter)	GLA, RPL36A-HNRNPH2 (R227* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic
Select item 222364	NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)	GLA, RPL36A-HNRNPH2 (C223Y +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 222360	NM_000169.3(GLA):c.659G>A (p.Arg220Gln)	GLA, RPL36A-HNRNPH2 (R220Q +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 167140	NM_000169.3(GLA):c.658C>T (p.Arg220Ter)	GLA, RPL36A-HNRNPH2 (R220* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic
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)	Cardiomyopathy +4 more	GPathogenic
Select item 597544	NM_000169.3(GLA):c.640-1G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant +1 more)	Fabry disease +1 more	GPathogenic
Select item 1284295	NM_000169.3(GLA):c.639+18G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +1 more	GBenign
Select item 92558	NM_000169.3(GLA):c.639+4A>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	GLA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 520522	NM_000169.3(GLA):c.616C>T (p.Leu206Phe)	GLA, RPL36A-HNRNPH2 (L206F +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 562419	NM_000169.3(GLA):c.548G>A (p.Gly183Asp)	RPL36A-HNRNPH2, GLA (G183D +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GLikely pathogenic
Select item 835100	NM_000169.3(GLA):c.525C>A (p.Asp175Glu)	GLA, RPL36A-HNRNPH2 (D175E +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GUncertain significance
Select item 1323002	NM_000169.3(GLA):c.515G>A (p.Cys172Tyr)	GLA, RPL36A-HNRNPH2 (C172Y +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 1329375	NM_000169.3(GLA):c.486G>A (p.Trp162Ter)	GLA, RPL36A-HNRNPH2 (W162* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
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 195028	NM_000169.3(GLA):c.335G>A (p.Arg112His)	GLA, HNRNPH2 +1 more (R112H +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 92550	NM_000169.3(GLA):c.334C>T (p.Arg112Cys)	GLA, RPL36A-HNRNPH2 (R153C)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GPathogenic
Select item 923554	NM_000169.3(GLA):c.259G>A (p.Glu87Lys)	RPL36A-HNRNPH2, GLA (E87K +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
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 289868	NM_000169.3(GLA):c.195-1G>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant +1 more)	Fabry disease +1 more	GPathogenic
Select item 92541	NM_000169.3(GLA):c.125T>C (p.Met42Thr)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
Select item 222168	NM_000169.3(GLA):c.122C>G (p.Thr41Ser)	GLA, RPL36A-HNRNPH2 (T41S)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 10719	NM_000169.3(GLA):c.118C>T (p.Pro40Ser)	GLA, RPL36A-HNRNPH2 (P40S)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
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 217373	NM_000169.3(GLA):c.59C>A (p.Ala20Asp)	GLA, RPL36A-HNRNPH2 (A20D)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic/Likely pathogenic
Select item 453315	NM_000169.3(GLA):c.33C>T (p.Gly11=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +1 more	GLikely benign
Select item 923043	NM_000169.3(GLA):c.32G>T (p.Gly11Val)	GLA, RPL36A-HNRNPH2 (G11V)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 92547	NM_000169.3(GLA):c.19G>T (p.Glu7Ter)	GLA, RPL36A-HNRNPH2 (E7*)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic
Select item 453320	NM_000169.3(GLA):c.6G>A (p.Gln2=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 218430	NC_000023.11:g.101407933C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +1 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50