Related gene-specific medical variations for Gene (Select 27183) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188982	NM_013245.3(VPS4A):c.122A>G (p.His41Arg)	LOC126862382, VPS4A (H41R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067885	NM_013245.3(VPS4A):c.282-1G>A	VPS4A	Single nucleotide variant (splice acceptor variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	GUncertain significance
Select item 2690442	NM_013245.3(VPS4A):c.1232T>C (p.Leu411Pro)	VPS4A (L411P)	Single nucleotide variant (missense variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	GUncertain significance
Select item 2464668	NM_013245.3(VPS4A):c.262A>G (p.Asn88Asp)	LOC126862382, VPS4A (N88D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2405498	NM_013245.3(VPS4A):c.181G>A (p.Val61Met)	LOC126862382, VPS4A (V61M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2263353	NM_013245.3(VPS4A):c.97C>G (p.Gln33Glu)	LOC126862382, VPS4A (Q33E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252901	NM_013245.3(VPS4A):c.145A>G (p.Ser49Gly)	LOC126862382, VPS4A (S49G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675630	NM_013245.3(VPS4A):c.133T>C (p.Tyr45His)	LOC126862382, VPS4A (Y45H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1246081	NM_013245.3(VPS4A):c.133+13A>C	LOC126862382, VPS4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213785	NM_013245.3(VPS4A):c.1107G>A (p.Met369Ile)	VPS4A (M369I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996556	NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)	LOC126862382, VPS4A (A28V)	Single nucleotide variant (missense variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome +1 more	GLikely pathogenic
Select item 808064	NM_013245.3(VPS4A):c.598A>G (p.Lys200Glu)	VPS4A (K200E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784625	NM_013245.3(VPS4A):c.105G>A (p.Ala35=)	LOC126862382, VPS4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 377332	NM_013245.3(VPS4A):c.719_722del (p.Glu240fs)	VPS4A (E240fs)	Deletion (frameshift variant)	not provided	GUncertain significance