"Ambry Genetics"[submitter] AND "VAPB"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188147	NM_004738.5(VAPB):c.17A>G (p.Gln6Arg)	VAPB (Q6R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 338929	NM_004738.5(VAPB):c.30C>T (p.Leu10=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2530418	NM_004738.5(VAPB):c.43G>A (p.Glu15Lys)	VAPB (E15K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318077	NM_004738.5(VAPB):c.58+3A>G	VAPB	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 574276	NM_004738.5(VAPB):c.58+5G>A	VAPB	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 465876	NM_004738.5(VAPB):c.59-4A>G	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +3 more	GBenign/Likely benign
Select item 3188149	NM_004738.5(VAPB):c.77T>C (p.Val26Ala)	VAPB (V26A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1730942	NM_004738.5(VAPB):c.114_118del (p.Asn39fs)	VAPB (N39fs)	Deletion (frameshift variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +2 more	GUncertain significance
Select item 1777866	NM_004738.5(VAPB):c.167C>G (p.Pro56Arg)	VAPB (P56R)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +2 more	GUncertain significance
Select item 534274	NM_004738.5(VAPB):c.174C>T (p.Ser58=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 1781302	NM_004738.5(VAPB):c.184G>A (p.Asp62Asn)	VAPB (D62N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 534273	NM_004738.5(VAPB):c.195C>A (p.Ala65=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +2 more	GLikely benign
Select item 656346	NM_004738.5(VAPB):c.199A>G (p.Ile67Val)	VAPB (I67V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1425782	NM_004738.5(VAPB):c.233A>G (p.Tyr78Cys)	VAPB (Y78C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 951278	NM_004738.5(VAPB):c.315A>G (p.Val105=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 338930	NM_004738.5(VAPB):c.332C>T (p.Pro111Leu)	VAPB (P111L)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 465873	NM_004738.5(VAPB):c.348T>C (p.Asp116=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
Select item 2265976	NM_004738.5(VAPB):c.367T>C (p.Phe123Leu)	VAPB (F123L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 259538	NM_004738.5(VAPB):c.390T>G (p.Asp130Glu)	VAPB (D130E)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1737271	NM_004738.5(VAPB):c.403G>A (p.Val135Ile)	VAPB (V135I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2219651	NM_004738.5(VAPB):c.454A>G (p.Ile152Val)	VAPB (I152V)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 8 +2 more	GUncertain significance
Select item 1388758	NM_004738.5(VAPB):c.472A>C (p.Ser158Arg)	VAPB (S158R)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 8 +2 more	GUncertain significance
Select item 338931	NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del)	VAPB (S160del)	Microsatellite (inframe_deletion +2 more)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 465874	NM_004738.5(VAPB):c.492C>T (p.Thr164=)	VAPB	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 8 +3 more	GBenign/Likely benign
Select item 534268	NM_004738.5(VAPB):c.496G>A (p.Val166Ile)	VAPB (V166I)	Single nucleotide variant (missense variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +2 more	GLikely benign
Select item 465875	NM_004738.5(VAPB):c.510G>A (p.Met170Ile)	VAPB (M170I)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 8 +3 more	GBenign/Likely benign
Select item 1745465	NM_004738.5(VAPB):c.511G>A (p.Glu171Lys)	VAPB (E171K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1746080	NM_004738.5(VAPB):c.520A>G (p.Lys174Glu)	VAPB (K174E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1746348	NM_004738.5(VAPB):c.524G>A (p.Arg175Lys)	VAPB (R175K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1050243	NM_004738.5(VAPB):c.535G>A (p.Glu179Lys)	VAPB (E179K)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 8 +2 more	GUncertain significance
Select item 574815	NM_004738.5(VAPB):c.545G>A (p.Arg182Lys)	VAPB (R182K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1386746	NM_004738.5(VAPB):c.550C>T (p.Arg184Trp)	VAPB (R184W)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 8 +2 more	GConflicting classifications of pathogenicity
Select item 448852	NM_004738.5(VAPB):c.551G>A (p.Arg184Gln)	VAPB (R184Q)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 783195	NM_004738.5(VAPB):c.574-5C>T	VAPB	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 338932	NM_004738.5(VAPB):c.574-4G>A	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 338933	NM_004738.5(VAPB):c.618C>T (p.Ser206=)	VAPB (P86S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1753544	NM_004738.5(VAPB):c.643G>C (p.Gly215Arg)	VAPB (G215R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1314423	NM_004738.5(VAPB):c.643G>A (p.Gly215Arg)	VAPB (G215R +1 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1753946	NM_004738.5(VAPB):c.650A>G (p.Glu217Gly)	VAPB (E217G)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 448853	NM_004738.5(VAPB):c.667C>T (p.Arg223Trp)	VAPB (R223W)	Single nucleotide variant (3 prime UTR variant +2 more)	Amyotrophic lateral sclerosis type 8 +3 more	GConflicting classifications of pathogenicity
Select item 3188148	NM_004738.5(VAPB):c.668G>A (p.Arg223Gln)	VAPB (R223Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1755089	NM_004738.5(VAPB):c.671T>C (p.Leu224Pro)	VAPB (L224P)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1756676	NM_004738.5(VAPB):c.700G>A (p.Val234Ile)	VAPB (V234I)	Single nucleotide variant (3 prime UTR variant +2 more)	Amyotrophic lateral sclerosis type 8 +2 more	GConflicting classifications of pathogenicity
Select item 2337557	NM_004738.5(VAPB):c.727T>G (p.Leu243Val)	VAPB (L243V)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 44