"GeneDx"[submitter] AND "VPS4A"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 1246081	NM_013245.3(VPS4A):c.133+13A>C	LOC126862382, VPS4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372810	NM_013245.3(VPS4A):c.292G>T (p.Asp98Tyr)	VPS4A (D98Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368966	NM_013245.3(VPS4A):c.346G>A (p.Ala116Thr)	VPS4A (A116T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2505936	NM_013245.3(VPS4A):c.475C>T (p.Pro159Ser)	VPS4A (P159S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580661	NM_013245.3(VPS4A):c.499G>C (p.Gly167Arg)	VPS4A (G167R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375862	NM_013245.3(VPS4A):c.716A>G (p.Asn239Ser)	VPS4A (N239S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370899	NM_013245.3(VPS4A):c.862C>T (p.Arg288Ter)	VPS4A (R288*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1806543	NM_013245.3(VPS4A):c.901C>T (p.Gln301Ter)	VPS4A (Q301*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2443496	NM_013245.3(VPS4A):c.943A>G (p.Thr315Ala)	VPS4A (T315A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573854	NM_013245.3(VPS4A):c.997G>A (p.Asp333Asn)	VPS4A (D333N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506797	NM_013245.3(VPS4A):c.1070A>T (p.Lys357Met)	VPS4A (K357M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582201	NM_013245.3(VPS4A):c.1226G>T (p.Arg409Leu)	VPS4A (R409L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662376	NM_013245.3(VPS4A):c.1261G>C (p.Asp421His)	VPS4A (D421H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361620	NM_013245.3(VPS4A):c.117C>A (p.Phe39Leu)	VPS4A (F39L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361312	NM_013245.3(VPS4A):c.980A>G (p.Glu327Gly)	VPS4A (E327G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance