ClinVar for MedGen (Select 1780242) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393428	NM_013245.3(VPS4A):c.538G>A (p.Val180Met)	VPS4A (V180M)	Single nucleotide variant (missense variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	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 2671748	NM_013245.3(VPS4A):c.944C>T (p.Thr315Met)	VPS4A (T315M)	Single nucleotide variant (missense variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	GUncertain significance
Select item 1709093	NM_013245.3(VPS4A):c.605T>C (p.Leu202Pro)	VPS4A (L202P)	Single nucleotide variant (missense variant)	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	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 996555	NM_013245.3(VPS4A):c.608G>A (p.Gly203Glu)	VPS4A (G203E)	Single nucleotide variant (missense variant)	Syndromic congenital hemolytic and dyserythropoietic anemia	GPathogenic
Select item 976852	NM_013245.3(VPS4A):c.616G>A (p.Glu206Lys)	VPS4A (E206K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 976851	NM_013245.3(VPS4A):c.850A>G (p.Arg284Gly)	VPS4A (R284G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 976850	NM_013245.3(VPS4A):c.850A>T (p.Arg284Trp)	VPS4A (R284W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic