ClinVar for MedGen (Select 934786) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688649	NM_001183.6(ATP6AP1):c.319G>A (p.Gly107Ser)	ATP6AP1 (G107S)	Single nucleotide variant (missense variant)	Immunodeficiency 47 +1 more	GConflicting classifications of pathogenicity
Select item 2687781	NM_001183.6(ATP6AP1):c.289-289G>A	ATP6AP1	Single nucleotide variant (intron variant)	Immunodeficiency 47	GPathogenic
Select item 2687780	NM_001183.6(ATP6AP1):c.289-233C>T	ATP6AP1	Single nucleotide variant (intron variant)	Immunodeficiency 47	GLikely pathogenic
Select item 2584995	NM_001183.6(ATP6AP1):c.473A>T (p.His158Leu)	ATP6AP1 (H158L)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GUncertain significance
Select item 2580152	NM_001183.6(ATP6AP1):c.560C>T (p.Ser187Phe)	ATP6AP1 (S187F)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GUncertain significance
Select item 2571385	NM_001183.6(ATP6AP1):c.220C>G (p.Leu74Val)	ATP6AP1 (L74V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2444113	NM_001183.6(ATP6AP1):c.385T>C (p.Ser129Pro)	ATP6AP1 (S129P)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GUncertain significance
Select item 2442381	NM_001183.6(ATP6AP1):c.530T>C (p.Leu177Pro)	ATP6AP1 (L177P)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GLikely pathogenic
Select item 2439383	NM_001183.6(ATP6AP1):c.515G>C (p.Ser172Thr)	ATP6AP1 (S172T)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GUncertain significance
Select item 2439382	NM_001183.6(ATP6AP1):c.301G>A (p.Asp101Asn)	ATP6AP1 (D101N)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GUncertain significance
Select item 2016125	NM_001183.6(ATP6AP1):c.971+10G>A	ATP6AP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1914019	NM_001183.6(ATP6AP1):c.216G>A (p.Leu72=)	ATP6AP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1686802	NM_001183.6(ATP6AP1):c.230_232del (p.Tyr77del)	ATP6AP1 (Y77del)	Deletion (inframe_deletion)	Immunodeficiency 47	GLikely pathogenic
Select item 1684654	Single allele	IDH3G, PDZD4 +200 more	Deletion	Immunodeficiency 33 +5 more	GPathogenic
Select item 1339117	NM_001183.6(ATP6AP1):c.1031G>A (p.Arg344His)	ATP6AP1 (R344H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 973847	NM_001183.6(ATP6AP1):c.649T>A (p.Tyr217Asn)	ATP6AP1 (Y217N)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GPathogenic
Select item 930248	NM_001183.6(ATP6AP1):c.674G>A (p.Arg225His)	ATP6AP1 (R225H)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GUncertain significance
Select item 915879	NM_001183.6(ATP6AP1):c.221T>C (p.Leu74Pro)	ATP6AP1 (L74P)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GPathogenic
Select item 804234	NM_001183.6(ATP6AP1):c.932T>A (p.Leu311Gln)	ATP6AP1 (L311Q)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GUncertain significance
Select item 683341	NM_001183.6(ATP6AP1):c.289-135=	ATP6AP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 437913	NM_001183.6(ATP6AP1):c.542T>G (p.Leu181Arg)	ATP6AP1 (L181R)	Single nucleotide variant (missense variant)	Immunodeficiency 47 +1 more	GConflicting classifications of pathogenicity
Select item 236242	NM_001183.6(ATP6AP1):c.938A>G (p.Tyr313Cys)	ATP6AP1 (Y313C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 236241	NM_001183.6(ATP6AP1):c.1036G>A (p.Glu346Lys)	ATP6AP1 (E346K)	Single nucleotide variant (missense variant)	Immunodeficiency 47 +1 more	GPathogenic/Likely pathogenic
Select item 236240	NM_001183.6(ATP6AP1):c.431T>C (p.Leu144Pro)	ATP6AP1 (L144P)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GPathogenic
Select item 236239	NM_001183.6(ATP6AP1):c.1284G>A (p.Met428Ile)	ATP6AP1 (M428I)	Single nucleotide variant (missense variant)	Immunodeficiency 47	GPathogenic

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Items: 25