"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 246044	NM_000169.3(GLA):c.1255A>G (p.Asn419Asp)	GLA, RPL36A-HNRNPH2 (N419D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1329374	NM_000169.3(GLA):c.1234A>G (p.Thr412Ala)	GLA, RPL36A-HNRNPH2 (T412A +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy	GUncertain significance
Select item 222160	NM_000169.3(GLA):c.1207T>C (p.Leu403=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiomyopathy +2 more	GLikely benign
Select item 10738	NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	GLA, RPL36A-HNRNPH2 (D313Y +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity; other
Select item 42460	NM_000169.3(GLA):c.714T>C (p.Ser238=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +4 more	GConflicting classifications of pathogenicity
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)	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)	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)	Cardiomyopathy +4 more	GPathogenic
Select item 42458	NM_000169.3(GLA):c.640-854_640-853del	GLA, RPL36A-HNRNPH2	Microsatellite (intron variant)	Cardiomyopathy +3 more	GBenign
Select item 626561	NM_000169.3(GLA):c.639+3G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 42456	NM_000169.3(GLA):c.613C>A (p.Pro205Thr)	GLA, RPL36A-HNRNPH2 (P205T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 927590	NM_000169.3(GLA):c.601T>G (p.Ser201Ala)	GLA, RPL36A-HNRNPH2 (S201A +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1329375	NM_000169.3(GLA):c.486G>A (p.Trp162Ter)	GLA, RPL36A-HNRNPH2 (W162* +1 more)	Single nucleotide variant (nonsense +2 more)	Cardiomyopathy +1 more	GPathogenic/Likely pathogenic
Select item 10748	NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	GLA, RPL36A-HNRNPH2 (A143T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 163547	NM_000169.3(GLA):c.376A>G (p.Ser126Gly)	GLA, RPL36A-HNRNPH2 (S126G +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 42454	NM_000169.3(GLA):c.352C>T (p.Arg118Cys)	GLA, RPL36A-HNRNPH2 (R118C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 598463	NM_000169.3(GLA):c.295del (p.Gln99fs)	GLA, RPL36A-HNRNPH2 (Q99fs +1 more)	Deletion (frameshift variant +2 more)	Fabry disease +2 more	GPathogenic/Likely pathogenic
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 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 163549	NM_000169.3(GLA):c.28C>T (p.Leu10=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiomyopathy +2 more	GLikely benign
Select item 42464	NM_000169.3(GLA):c.8T>C (p.Leu3Pro)	GLA, RPL36A-HNRNPH2 (L3P)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 163550	NM_000169.3(GLA):c.-8C>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity

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Items: 22