"Illumina Laboratory Services, Illumina"[submitter] AND "VAPB"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 897764	NM_004738.4(VAPB):c.-349G>T	LOC130066253, VAPB	Single nucleotide variant	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 897765	NM_004738.4(VAPB):c.-322G>C	LOC130066253, VAPB	Single nucleotide variant	Amyotrophic lateral sclerosis type 8 +1 more	GBenign
Select item 338918	NM_004738.4(VAPB):c.-292G>C	LOC130066253, VAPB	Single nucleotide variant	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 338919	NM_004738.4(VAPB):c.-283A>C	LOC130066253, VAPB	Single nucleotide variant	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338920	NM_004738.4(VAPB):c.-229_-226dupGTGC	LOC130066253, VAPB	Microsatellite	Spinal Muscular Atrophy, Dominant +1 more	GUncertain significance
Select item 338921	NM_004738.5(VAPB):c.-198GCCCTC[3]	LOC130066253, VAPB	Microsatellite (5 prime UTR variant +1 more)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 338922	NM_004738.5(VAPB):c.-189C>T	VAPB, LOC130066253	Single nucleotide variant (5 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 898907	NM_004738.5(VAPB):c.-166G>A	LOC130066253, VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 338924	NM_004738.5(VAPB):c.-159_-158insCC	LOC130066253, VAPB	Insertion (5 prime UTR variant +1 more)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 338923	NM_004738.5(VAPB):c.-159_-158insC	LOC130066253, VAPB	Insertion (non-coding transcript variant +1 more)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 338925	NM_004738.5(VAPB):c.-149dup	LOC130066253, VAPB	Duplication (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 338926	NM_004738.5(VAPB):c.-152C>A	LOC130066253, VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 895951	NM_004738.5(VAPB):c.-150C>G	LOC130066253, VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 895952	NM_004738.5(VAPB):c.-137C>T	LOC130066253, VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 338927	NM_004738.5(VAPB):c.-33C>G	VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign/Likely benign
Select item 338928	NM_004738.5(VAPB):c.-12C>T	VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	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 465876	NM_004738.5(VAPB):c.59-4A>G	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +4 more	GBenign/Likely benign
Select item 896231	NM_004738.5(VAPB):c.212-12T>C	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 534270	NM_004738.5(VAPB):c.289A>G (p.Thr97Ala)	VAPB (T97A)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 897834	NM_004738.5(VAPB):c.310G>A (p.Ala104Thr)	VAPB (A104T)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
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 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 338931	NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del)	VAPB (S160del)	Microsatellite (inframe_deletion +2 more)	not provided +7 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)	not provided +4 more	GBenign/Likely benign
Select item 465875	NM_004738.5(VAPB):c.510G>A (p.Met170Ile)	VAPB (M170I)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 338932	NM_004738.5(VAPB):c.574-4G>A	VAPB	Single nucleotide variant (intron variant)	VAPB-related condition +4 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 448853	NM_004738.5(VAPB):c.667C>T (p.Arg223Trp)	VAPB (R223W)	Single nucleotide variant (3 prime UTR variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 338934	NM_004738.5(VAPB):c.*75G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 894852	NM_004738.5(VAPB):c.*172A>C	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338935	NM_004738.5(VAPB):c.200_214delinsGTTGAGGGGGAAACATTAAAAG	VAPB	Indel (3 prime UTR variant +1 more)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 338936	NM_004738.5(VAPB):c.*348C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338937	NM_004738.5(VAPB):c.*375C>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 896298	NM_004738.5(VAPB):c.*382G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 896299	NM_004738.5(VAPB):c.*436C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 896300	NM_004738.5(VAPB):c.*467G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 896301	NM_004738.5(VAPB):c.*480T>C	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 897918	NM_004738.5(VAPB):c.*574G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338938	NM_004738.5(VAPB):c.*596C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 338939	NM_004738.5(VAPB):c.*602G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 897919	NM_004738.5(VAPB):c.*624C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 338940	NM_004738.5(VAPB):c.*726A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 338941	NM_004738.5(VAPB):c.*753C>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 899057	NM_004738.5(VAPB):c.*774G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 899058	NM_004738.5(VAPB):c.*861T>C	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338942	NM_004738.5(VAPB):c.*884A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 338943	NM_004738.5(VAPB):c.*937G>C	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 894924	NM_004738.5(VAPB):c.*995T>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GBenign
Select item 894925	NM_004738.5(VAPB):c.*1022C>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338944	NM_004738.5(VAPB):c.*1050G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338945	NM_004738.5(VAPB):c.*1168G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338946	NM_004738.5(VAPB):c.*1265G>C	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 338947	NM_004738.5(VAPB):c.*1282A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 897995	NM_004738.5(VAPB):c.*1295T>C	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 338948	NM_004738.5(VAPB):c.*1335C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 897996	NM_004738.5(VAPB):c.*1347A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 338949	NM_004738.5(VAPB):c.*1413C>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GBenign
Select item 338950	NM_004738.5(VAPB):c.*1431G>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338952	NM_004738.5(VAPB):c.*1451GT[20]	VAPB	Microsatellite (3 prime UTR variant +1 more)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 338951	NM_004738.5(VAPB):c.*1451GT[19]	VAPB	Microsatellite (3 prime UTR variant +1 more)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 338954	NM_004738.5(VAPB):c.*1451GT[16]	VAPB	Microsatellite (3 prime UTR variant +1 more)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 338953	NM_004738.5(VAPB):c.*1451GT[17]	VAPB	Microsatellite (3 prime UTR variant +1 more)	Amyotrophic Lateral Sclerosis, Dominant +1 more	GUncertain significance
Select item 899119	NM_004738.5(VAPB):c.*1563G>C	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 899120	NM_004738.5(VAPB):c.*1641G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 338955	NM_004738.5(VAPB):c.*1773G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GBenign
Select item 338956	NM_004738.5(VAPB):c.*1800A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 894986	NM_004738.5(VAPB):c.*1905C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338957	NM_004738.5(VAPB):c.*1919A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 894987	NM_004738.5(VAPB):c.*1951A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 896430	NM_004738.5(VAPB):c.*2012G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338958	NM_004738.5(VAPB):c.*2224C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 338959	NM_004738.5(VAPB):c.*2320T>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign/Likely benign
Select item 896431	NM_004738.5(VAPB):c.*2350A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 898058	NM_004738.5(VAPB):c.*2571G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 898059	NM_004738.5(VAPB):c.*2592G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GBenign/Likely benign
Select item 338960	NM_004738.5(VAPB):c.*2671A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 338961	NM_004738.5(VAPB):c.*2676A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 899179	NM_004738.5(VAPB):c.*2733G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338962	NM_004738.5(VAPB):c.*2748A>C	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 338963	NM_004738.5(VAPB):c.*2766C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GBenign
Select item 338964	NM_004738.5(VAPB):c.*2819A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GBenign
Select item 895061	NM_004738.5(VAPB):c.*2850T>C	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 895062	NM_004738.5(VAPB):c.*2876A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 895063	NM_004738.5(VAPB):c.*2885G>C	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 895064	NM_004738.5(VAPB):c.*3001T>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 896506	NM_004738.5(VAPB):c.*3014C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338965	NM_004738.5(VAPB):c.*3020A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GBenign/Likely benign
Select item 338966	NM_004738.5(VAPB):c.*3027A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 338968	NM_004738.5(VAPB):c.*3118C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely benign
Select item 338967	NM_004738.5(VAPB):c.*3118C>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338969	NM_004738.5(VAPB):c.*3134G>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 338970	NM_004738.5(VAPB):c.*3192T>C	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 338971	NM_004738.5(VAPB):c.*3260C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 338972	NM_004738.5(VAPB):c.*3274C>T	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 899238	NM_004738.5(VAPB):c.*3305C>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338973	NM_004738.5(VAPB):c.*3315A>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 338974	NM_004738.5(VAPB):c.*3428CATGTGTG[2]	VAPB	Microsatellite (3 prime UTR variant +1 more)	Spinal Muscular Atrophy, Dominant +1 more	GBenign
Select item 338975	NM_004738.5(VAPB):c.*3493G>A	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 338976	NM_004738.5(VAPB):c.*3516C>G	VAPB	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance

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