"Ambry Genetics"[submitter] AND "GLA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1768801	NM_000169.3(GLA):c.1285_1289del (p.Leu429fs)	GLA, RPL36A-HNRNPH2 (L429fs)	Deletion (frameshift variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 515170	NM_000169.3(GLA):c.1261A>G (p.Met421Val)	GLA, RPL36A-HNRNPH2 (M421V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 246044	NM_000169.3(GLA):c.1255A>G (p.Asn419Asp)	GLA, RPL36A-HNRNPH2 (N419D)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1757464	NM_000169.3(GLA):c.1238T>C (p.Val413Ala)	GLA, RPL36A-HNRNPH2 (V413A +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1750330	NM_000169.3(GLA):c.1210dup (p.Arg404fs)	GLA, RPL36A-HNRNPH2 (R404fs)	Duplication (frameshift variant +2 more)	Cardiovascular phenotype	GPathogenic
Select item 222160	NM_000169.3(GLA):c.1207T>C (p.Leu403=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	GLA-related condition +3 more	GLikely benign
Select item 281678	NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)	GLA, RPL36A-HNRNPH2 (L394P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 42452	NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)	GLA, RPL36A-HNRNPH2 (T385A)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 42451	NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)	GLA, RPL36A-HNRNPH2 (A368T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
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 449838	NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn)	RPL36A-HNRNPH2, GLA (Y365N)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1785008	NM_000169.3(GLA):c.1077_1086del (p.Gly360fs)	GLA, RPL36A-HNRNPH2 (G360fs)	Deletion (frameshift variant +2 more)	Cardiovascular phenotype	GLikely pathogenic
Select item 222135	NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)	GLA, RPL36A-HNRNPH2 (R356Q)	Single nucleotide variant (missense variant +2 more)	Fabry disease +3 more	GConflicting classifications of pathogenicity
Select item 2587899	NM_000169.3(GLA):c.1059G>A (p.Met353Ile)	RPL36A-HNRNPH2, GLA (M353I +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 222130	NM_000169.3(GLA):c.1046G>C (p.Trp349Ser)	GLA, RPL36A-HNRNPH2 (W349S)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GUncertain significance
Select item 1763194	NM_000169.3(GLA):c.1022A>C (p.Glu341Ala)	GLA, RPL36A-HNRNPH2 (E341A +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 516472	NM_000169.3(GLA):c.1008C>T (p.Asn336=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 373666	NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu)	GLA, RPL36A-HNRNPH2 (R332E)	Indel (missense variant +2 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 180828	NM_000169.3(GLA):c.991C>T (p.Leu331Phe)	GLA, RPL36A-HNRNPH2 (L331F)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 386764	NM_000169.3(GLA):c.984G>T (p.Gly328=)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 42466	NM_000169.3(GLA):c.978G>A (p.Lys326=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 928722	NM_000169.3(GLA):c.962A>G (p.Gln321Arg)	GLA, RPL36A-HNRNPH2 (Q321R)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 217404	NM_000169.3(GLA):c.947T>C (p.Val316Ala)	GLA, RPL36A-HNRNPH2 (V316A)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 42465	NM_000169.3(GLA):c.945C>T (p.Asp315=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	GLA-related condition +4 more	GConflicting classifications of pathogenicity
Select item 217402	NM_000169.3(GLA):c.937G>A (p.Asp313Asn)	GLA, RPL36A-HNRNPH2 (D313N)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GConflicting classifications of pathogenicity
Select item 10738	NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	GLA, RPL36A-HNRNPH2 (D313Y)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity; other
Select item 10715	NM_000169.3(GLA):c.902G>A (p.Arg301Gln)	GLA, RPL36A-HNRNPH2 (R301Q)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 179546	NM_000169.3(GLA):c.901C>G (p.Arg301Gly)	GLA, RPL36A-HNRNPH2 (R301G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 222434	NM_000169.3(GLA):c.868A>C (p.Met290Leu)	GLA, RPL36A-HNRNPH2 (M290L)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 217400	NM_000169.3(GLA):c.865A>G (p.Ile289Val)	GLA, RPL36A-HNRNPH2 (I289V)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 177871	NM_000169.3(GLA):c.829T>G (p.Trp277Gly)	GLA, RPL36A-HNRNPH2 (W277G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1507609	NM_000169.3(GLA):c.812G>T (p.Gly271Val)	GLA, RPL36A-HNRNPH2 (G271V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 2561481	NM_000169.3(GLA):c.796G>C (p.Asp266His)	GLA, RPL36A-HNRNPH2 (D307H +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 222380	NM_000169.3(GLA):c.755G>C (p.Arg252Thr)	GLA, RPL36A-HNRNPH2 (R252T)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GConflicting classifications of pathogenicity
Select item 217396	NM_000169.3(GLA):c.724A>G (p.Ile242Val)	GLA, RPL36A-HNRNPH2 (I242V)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GUncertain significance
Select item 42460	NM_000169.3(GLA):c.714T>C (p.Ser238=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	GLA-related condition +5 more	GConflicting classifications of pathogenicity
Select item 180841	NM_000169.3(GLA):c.713G>A (p.Ser238Asn)	GLA, RPL36A-HNRNPH2 (S238N)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 197637	NM_000169.3(GLA):c.704C>G (p.Ser235Cys)	GLA, RPL36A-HNRNPH2 (S235C)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 659973	NM_000169.3(GLA):c.695T>C (p.Ile232Thr)	GLA, RPL36A-HNRNPH2 (I232T)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GPathogenic/Likely pathogenic
Select item 92563	NM_000169.3(GLA):c.677G>A (p.Trp226Ter)	GLA, RPL36A-HNRNPH2 (W226*)	Single nucleotide variant (nonsense +2 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 222364	NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)	GLA, RPL36A-HNRNPH2 (C223Y)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 520264	NM_000169.3(GLA):c.667T>C (p.Cys223Arg)	GLA, RPL36A-HNRNPH2 (C223R)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 2568397	NM_000169.3(GLA):c.662A>G (p.Gln221Arg)	GLA, RPL36A-HNRNPH2 (Q221R +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 10730	NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	GLA, RPL36A-HNRNPH2 (N215S)	Single nucleotide variant (missense variant +2 more)	Fabry disease +4 more	GPathogenic
Select item 10768	NM_000169.3(GLA):c.640-801G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1752437	NM_000169.3(GLA):c.624G>A (p.Met208Ile)	GLA, RPL36A-HNRNPH2 (M249I +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 167141	NM_000169.3(GLA):c.619T>C (p.Tyr207His)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (missense variant +2 more)	GLA-related condition +3 more	GConflicting classifications of pathogenicity
Select item 520522	NM_000169.3(GLA):c.616C>T (p.Leu206Phe)	RPL36A-HNRNPH2, GLA (L206F)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 180839	NM_000169.3(GLA):c.616C>G (p.Leu206Val)	GLA, RPL36A-HNRNPH2 (L206V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 42456	NM_000169.3(GLA):c.613C>A (p.Pro205Thr)	GLA, RPL36A-HNRNPH2 (P205T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 919354	NM_000169.3(GLA):c.597G>A (p.Val199=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +1 more	GLikely benign
Select item 167142	NM_000169.3(GLA):c.593T>C (p.Ile198Thr)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 520318	NM_000169.3(GLA):c.574A>T (p.Asn192Tyr)	GLA, RPL36A-HNRNPH2 (N192Y)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1171867	NM_000169.3(GLA):c.566T>G (p.Leu189Trp)	GLA, RPL36A-HNRNPH2 (L189W)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 222281	NM_000169.3(GLA):c.547G>A (p.Gly183Ser)	GLA, RPL36A-HNRNPH2 (G183S)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GPathogenic
Select item 1747366	NM_000169.3(GLA):c.540G>C (p.Leu180Phe)	GLA, RPL36A-HNRNPH2 (L180F +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 217387	NM_000169.3(GLA):c.540G>T (p.Leu180Phe)	GLA, RPL36A-HNRNPH2 (L180F)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 835100	NM_000169.3(GLA):c.525C>A (p.Asp175Glu)	GLA, RPL36A-HNRNPH2 (D175E)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 573833	NM_000169.3(GLA):c.525C>G (p.Asp175Glu)	GLA, RPL36A-HNRNPH2 (D175E)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1745537	NM_000169.3(GLA):c.512G>A (p.Gly171Asp)	GLA, RPL36A-HNRNPH2 (G212D +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 1744116	NM_000169.3(GLA):c.491T>C (p.Val164Ala)	GLA, RPL36A-HNRNPH2 (V164A +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1021395	NM_000169.3(GLA):c.481G>A (p.Asp161Asn)	RPL36A-HNRNPH2, GLA (D161N)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 2568395	NM_000169.3(GLA):c.476T>A (p.Phe159Tyr)	GLA, RPL36A-HNRNPH2 (F159Y +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 924167	NM_000169.3(GLA):c.475T>C (p.Phe159Leu)	GLA, RPL36A-HNRNPH2 (F159L)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 196225	NM_000169.3(GLA):c.469C>T (p.Gln157Ter)	GLA, RPL36A-HNRNPH2 (Q157*)	Single nucleotide variant (nonsense +2 more)	Cardiovascular phenotype +2 more	GPathogenic
Select item 633251	NM_000169.3(GLA):c.444T>G (p.Ser148Arg)	GLA, RPL36A-HNRNPH2 (S148R)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
Select item 10748	NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	GLA, RPL36A-HNRNPH2 (A143T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1115175	NM_000169.3(GLA):c.426C>T (p.Cys142=)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 222254	NM_000169.3(GLA):c.419A>C (p.Lys140Thr)	GLA, RPL36A-HNRNPH2 (K140T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 222253	NM_000169.3(GLA):c.416A>G (p.Asn139Ser)	GLA, RPL36A-HNRNPH2 (N139S)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GLikely benign
Select item 1737193	NM_000169.3(GLA):c.402T>A (p.Tyr134Ter)	GLA, RPL36A-HNRNPH2 (Y175* +1 more)	Single nucleotide variant (nonsense +2 more)	Cardiovascular phenotype	GPathogenic
Select item 453316	NM_000169.3(GLA):c.402T>C (p.Tyr134=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 163547	NM_000169.3(GLA):c.376A>G (p.Ser126Gly)	GLA, RPL36A-HNRNPH2 (S126G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1733957	NM_000169.3(GLA):c.369+4A>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 520251	NM_000169.3(GLA):c.369+3G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 42454	NM_000169.3(GLA):c.352C>T (p.Arg118Cys)	GLA, RPL36A-HNRNPH2 (R118C)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 946909	NM_000169.3(GLA):c.344A>C (p.His115Pro)	GLA, RPL36A-HNRNPH2 (H115P)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 222218	NM_000169.3(GLA):c.337T>C (p.Phe113Leu)	GLA, RPL36A-HNRNPH2 (F113L)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GPathogenic
Select item 195028	NM_000169.3(GLA):c.335G>A (p.Arg112His)	GLA, HNRNPH2 +1 more (R112H)	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	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1729715	NM_000169.3(GLA):c.327C>T (p.Asp109=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
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)	Fabry disease +1 more	GUncertain significance
Select item 854523	NM_000169.3(GLA):c.313A>G (p.Arg105Gly)	GLA, RPL36A-HNRNPH2 (R105G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 264377	NM_000169.3(GLA):c.295dup (p.Gln99fs)	GLA, RPL36A-HNRNPH2 (Q99fs)	Duplication (frameshift variant +2 more)	Cardiovascular phenotype +2 more	GPathogenic
Select item 917640	NM_000169.3(GLA):c.295C>T (p.Gln99Ter)	GLA, RPL36A-HNRNPH2 (Q99*)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic
Select item 594665	NM_000169.3(GLA):c.254G>A (p.Gly85Asp)	GLA, RPL36A-HNRNPH2 (G85D)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GPathogenic/Likely pathogenic
Select item 1102718	NM_000169.3(GLA):c.249T>C (p.Asp83=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 222202	NM_000169.3(GLA):c.247G>A (p.Asp83Asn)	GLA, RPL36A-HNRNPH2 (D83N)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GConflicting classifications of pathogenicity
Select item 217380	NM_000169.3(GLA):c.239G>A (p.Gly80Asp)	RPL36A-HNRNPH2, GLA (G80D)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 264386	NM_000169.3(GLA):c.213G>A (p.Glu71=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 855220	NM_000169.3(GLA):c.202C>T (p.Leu68Phe)	GLA, RPL36A-HNRNPH2 (L68F)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 163548	NM_000169.3(GLA):c.196G>C (p.Glu66Gln)	RPL36A-HNRNPH2, GLA (E66Q)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1137628	NM_000169.3(GLA):c.192C>T (p.Ile64=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 512829	NM_000169.3(GLA):c.133C>T (p.Leu45=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 42453	NM_000169.3(GLA):c.129C>T (p.Gly43=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 222170	NM_000169.3(GLA):c.123C>T (p.Thr41=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +4 more	GConflicting classifications of pathogenicity
Select item 222168	NM_000169.3(GLA):c.122C>G (p.Thr41Ser)	GLA, RPL36A-HNRNPH2 (T41S)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GUncertain significance
Select item 1770904	NM_000169.3(GLA):c.102T>C (p.Asn34=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 180845	NM_000169.3(GLA):c.80del (p.Pro27fs)	GLA, RPL36A-HNRNPH2 (P27fs)	Deletion (frameshift variant +2 more)	Cardiovascular phenotype +2 more	GPathogenic
Select item 1759200	NM_000169.3(GLA):c.74A>T (p.Asp25Val)	GLA, RPL36A-HNRNPH2 (D25V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance

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