"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217414	NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	GLA, RPL36A-HNRNPH2 (W399S)	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)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 379288	NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)	GLA, RPL36A-HNRNPH2 (A368P)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 222141	NM_000169.3(GLA):c.1088G>A (p.Arg363His)	GLA, RPL36A-HNRNPH2 (R363H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198401	NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	GLA, RPL36A-HNRNPH2 (R363C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely 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 217410	NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)	GLA, RPL36A-HNRNPH2 (A352G)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 180828	NM_000169.3(GLA):c.991C>T (p.Leu331Phe)	GLA, RPL36A-HNRNPH2 (L331F)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 217409	NM_000169.3(GLA):c.989A>G (p.Gln330Arg)	GLA, RPL36A-HNRNPH2 (Q330R)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 42465	NM_000169.3(GLA):c.945C>T (p.Asp315=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +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 222434	NM_000169.3(GLA):c.868A>C (p.Met290Leu)	GLA, RPL36A-HNRNPH2 (M290L)	Single nucleotide variant (missense variant +2 more)	not provided +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 10730	NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	GLA, RPL36A-HNRNPH2 (N215S)	Single nucleotide variant (missense variant +2 more)	not provided +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 42457	NM_000169.3(GLA):c.639+6A>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 167141	NM_000169.3(GLA):c.619T>C (p.Tyr207His)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 246587	NM_000169.3(GLA):c.596T>C (p.Val199Ala)	GLA, RPL36A-HNRNPH2 (V199A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167142	NM_000169.3(GLA):c.593T>C (p.Ile198Thr)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 10748	NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	GLA, RPL36A-HNRNPH2 (A143T)	Single nucleotide variant (missense variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
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 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 217384	NM_000169.3(GLA):c.361G>A (p.Ala121Thr)	GLA, RPL36A-HNRNPH2 (A121T)	Single nucleotide variant (missense variant +2 more)	Fabry disease +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)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
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 217379	NM_000169.3(GLA):c.212A>G (p.Glu71Gly)	GLA, RPL36A-HNRNPH2 (E71G)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 42455	NM_000169.3(GLA):c.48T>G (p.Leu16=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 42464	NM_000169.3(GLA):c.8T>C (p.Leu3Pro)	GLA, RPL36A-HNRNPH2 (L3P)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity

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Items: 29