ClinVar (all) for Orgtrack (Select 505567) - ClinVar

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Items: 46

	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 217413	NM_000169.3(GLA):c.1176G>T (p.Arg392Ser)	GLA, RPL36A-HNRNPH2 (R392S)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GLikely pathogenic; drug response
Select item 217412	NM_000169.3(GLA):c.1124G>C (p.Gly375Ala)	GLA, RPL36A-HNRNPH2 (G375A)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 217411	NM_000169.3(GLA):c.1067G>C (p.Arg356Pro)	GLA, RPL36A-HNRNPH2 (R356P)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217410	NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)	RPL36A-HNRNPH2, GLA (A352G)	Single nucleotide variant (missense variant +2 more)	not provided +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 217408	NM_000169.3(GLA):c.980A>T (p.Gln327Leu)	GLA, RPL36A-HNRNPH2 (Q327L)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217407	NM_000169.3(GLA):c.980A>G (p.Gln327Arg)	GLA, RPL36A-HNRNPH2 (Q327R)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217406	NM_000169.3(GLA):c.968C>G (p.Pro323Arg)	GLA, RPL36A-HNRNPH2 (P323R)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 217405	NM_000169.3(GLA):c.950T>G (p.Ile317Ser)	GLA, RPL36A-HNRNPH2 (I317S)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
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 217403	NM_000169.3(GLA):c.943G>A (p.Asp315Asn)	GLA, RPL36A-HNRNPH2 (D315N)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance; drug response
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 217401	NM_000169.3(GLA):c.926C>T (p.Ala309Val)	GLA, RPL36A-HNRNPH2 (A309V)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 217400	NM_000169.3(GLA):c.865A>G (p.Ile289Val)	GLA, RPL36A-HNRNPH2 (I289V)	Single nucleotide variant (missense variant +2 more)	Fabry disease +3 more	GConflicting classifications of pathogenicity
Select item 217399	NM_000169.3(GLA):c.806T>G (p.Val269Gly)	GLA, RPL36A-HNRNPH2 (V269G)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217398	NM_000169.3(GLA):c.784T>C (p.Trp262Arg)	GLA, RPL36A-HNRNPH2 (W262R)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217397	NM_000169.3(GLA):c.761T>C (p.Val254Ala)	GLA, RPL36A-HNRNPH2 (V254A)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GLikely pathogenic; drug response
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 217395	NM_000169.3(GLA):c.683A>G (p.Asn228Ser)	GLA, RPL36A-HNRNPH2 (N228S)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 217394	NM_000169.3(GLA):c.680G>C (p.Arg227Pro)	GLA, RPL36A-HNRNPH2 (R227P)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217393	NM_000169.3(GLA):c.657C>G (p.Ile219Met)	GLA, RPL36A-HNRNPH2 (I219M)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GLikely pathogenic; drug response
Select item 217392	NM_000169.3(GLA):c.641C>T (p.Pro214Leu)	GLA, RPL36A-HNRNPH2 (P214L)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 217391	NM_000169.3(GLA):c.638A>G (p.Lys213Arg)	GLA, RPL36A-HNRNPH2 (K213R)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217390	NM_000169.3(GLA):c.610T>C (p.Trp204Arg)	GLA, RPL36A-HNRNPH2 (W204R)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GLikely pathogenic
Select item 217389	NM_000169.3(GLA):c.588A>C (p.Arg196Ser)	GLA, RPL36A-HNRNPH2 (R196S)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance; drug response
Select item 217388	NM_000169.3(GLA):c.561G>A (p.Met187Ile)	GLA, RPL36A-HNRNPH2 (M187I)	Single nucleotide variant (intron variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
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 217386	NM_000169.3(GLA):c.490G>T (p.Val164Leu)	GLA, RPL36A-HNRNPH2 (V164L)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 217385	NM_000169.3(GLA):c.461T>C (p.Ile154Thr)	GLA, RPL36A-HNRNPH2 (I154T)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance; drug response
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 217383	NM_000169.3(GLA):c.337T>A (p.Phe113Ile)	GLA, RPL36A-HNRNPH2 (F113I)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GLikely pathogenic; drug response
Select item 217382	NM_000169.3(GLA):c.272T>A (p.Ile91Asn)	GLA, RPL36A-HNRNPH2 (I91N)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217381	NM_000169.3(GLA):c.256T>C (p.Tyr86His)	GLA, RPL36A-HNRNPH2 (Y86H)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217380	NM_000169.3(GLA):c.239G>A (p.Gly80Asp)	GLA, RPL36A-HNRNPH2 (G80D)	Single nucleotide variant (intron variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
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 217378	NM_000169.3(GLA):c.190A>T (p.Ile64Phe)	GLA, RPL36A-HNRNPH2 (I64F)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217377	NM_000169.3(GLA):c.107T>G (p.Leu36Trp)	GLA, RPL36A-HNRNPH2 (L36W)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217376	NM_000169.3(GLA):c.104G>A (p.Gly35Glu)	GLA, RPL36A-HNRNPH2 (G35E)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217375	NM_000169.3(GLA):c.98A>G (p.Asp33Gly)	GLA, RPL36A-HNRNPH2 (D33G)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic; drug response
Select item 217374	NM_000169.3(GLA):c.62T>C (p.Leu21Pro)	RPL36A-HNRNPH2, GLA (L21P)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely pathogenic
Select item 217373	NM_000169.3(GLA):c.59C>A (p.Ala20Asp)	RPL36A-HNRNPH2, GLA (A20D)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic/Likely pathogenic
Select item 217372	NM_000169.3(GLA):c.7C>G (p.Leu3Val)	GLA, RPL36A-HNRNPH2 (L3V)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance; drug response
Select item 180021	NM_000169.3(GLA):c.758T>C (p.Ile253Thr)	GLA, RPL36A-HNRNPH2 (I253T)	Single nucleotide variant (missense variant +2 more)	not provided +2 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 42464	NM_000169.3(GLA):c.8T>C (p.Leu3Pro)	GLA, RPL36A-HNRNPH2 (L3P)	Single nucleotide variant (missense variant +2 more)	Fabry disease +3 more	GConflicting classifications of pathogenicity

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Items: 46