ClinVar for MedGen (Select 340120) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248276	NC_000020.10:g.(?_57013981)_(57019291_?)dup	VAPB	Duplication	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 3248275	NC_000020.10:g.(?_56993257)_(57967907_?)dup	APCDD1L, ATP5F1E +14 more	Duplication	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 3248274	NC_000020.10:g.(?_56964516)_(57019291_?)del	VAPB	Deletion	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2953470	NM_004738.5(VAPB):c.354A>C (p.Lys118Asn)	VAPB (K118N)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2952408	NM_004738.5(VAPB):c.63C>G (p.Pro21=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 2950778	NM_004738.5(VAPB):c.207A>G (p.Val69=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2949846	NM_004738.5(VAPB):c.159del (p.Cys53fs)	VAPB (C53fs)	Deletion (frameshift variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2949460	NM_004738.5(VAPB):c.315+14G>T	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2946787	NM_004738.5(VAPB):c.460T>A (p.Ser154Thr)	VAPB (S154T)	Single nucleotide variant (missense variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2945916	NM_004738.5(VAPB):c.376C>G (p.Pro126Ala)	VAPB (P126A)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2945280	NM_004738.5(VAPB):c.704G>T (p.Gly235Val)	VAPB (G235V)	Single nucleotide variant (3 prime UTR variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2944536	NM_004738.5(VAPB):c.396+6T>C	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2943309	NM_004738.5(VAPB):c.258C>A (p.His86Gln)	VAPB (H86Q)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2942488	NM_004738.5(VAPB):c.122_123del (p.Cys41fs)	VAPB (C41fs)	Microsatellite (frameshift variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2941986	NM_004738.5(VAPB):c.283G>C (p.Ala95Pro)	VAPB (A95P)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2941298	NM_004738.5(VAPB):c.59-11T>C	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2941058	NM_004738.5(VAPB):c.16C>G (p.Gln6Glu)	VAPB (Q6E)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2940632	NM_004738.5(VAPB):c.283G>T (p.Ala95Ser)	VAPB (A95S)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2940464	NM_004738.5(VAPB):c.121T>C (p.Cys41Arg)	VAPB (C41R)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2938861	NM_004738.5(VAPB):c.188C>T (p.Ala63Val)	VAPB (A63V)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2937226	NM_004738.5(VAPB):c.438A>G (p.Ser146=)	VAPB	Single nucleotide variant (synonymous variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2935194	NM_004738.5(VAPB):c.24G>A (p.Leu8=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2934872	NM_004738.5(VAPB):c.373T>A (p.Leu125Met)	VAPB (L125M)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2934656	NM_004738.5(VAPB):c.574-7C>T	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2934287	NM_004738.5(VAPB):c.344T>C (p.Met115Thr)	VAPB (M115T)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2933998	NM_004738.5(VAPB):c.385A>T (p.Asn129Tyr)	VAPB (N129Y)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2932772	NM_004738.5(VAPB):c.58+8C>G	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2932572	NM_004738.5(VAPB):c.246G>A (p.Glu82=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2932500	NM_004738.5(VAPB):c.396+21_396+23del	VAPB	Deletion (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2929963	NM_004738.5(VAPB):c.592A>T (p.Met198Leu)	VAPB (D77V +1 more)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2929534	NM_004738.5(VAPB):c.397-12G>T	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2929362	NM_004738.5(VAPB):c.396+9A>G	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2928614	NM_004738.5(VAPB):c.512A>T (p.Glu171Val)	VAPB (E171V)	Single nucleotide variant (missense variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2928353	NM_004738.5(VAPB):c.211+11A>T	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2927552	NM_004738.5(VAPB):c.397-17C>T	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2927551	NM_004738.5(VAPB):c.691T>C (p.Phe231Leu)	VAPB (F231L)	Single nucleotide variant (3 prime UTR variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2926941	NM_004738.5(VAPB):c.315+14G>A	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2925473	NM_004738.5(VAPB):c.58+10A>G	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2924892	NM_004738.5(VAPB):c.396+16G>A	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2923514	NM_004738.5(VAPB):c.69C>T (p.Thr23=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2923072	NM_004738.5(VAPB):c.70G>A (p.Asp24Asn)	VAPB (D24N)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2922955	NM_004738.5(VAPB):c.574-15C>T	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2922249	NM_004738.5(VAPB):c.59-16_59-15del	VAPB	Microsatellite (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2921819	NM_004738.5(VAPB):c.316-3del	VAPB	Deletion (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
Select item 2425222	NC_000020.10:g.(?_57009638)_(57019291_?)dup	VAPB	Duplication	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2414294	NM_004738.5(VAPB):c.93G>T (p.Lys31Asn)	VAPB (K31N)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	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 2195595	NM_004738.5(VAPB):c.99C>T (p.Gly33=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 2194950	NM_004738.5(VAPB):c.434C>T (p.Ala145Val)	VAPB (A145V)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2187546	NM_004738.5(VAPB):c.455T>C (p.Ile152Thr)	VAPB (I152T)	Single nucleotide variant (missense variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2176064	NM_004738.5(VAPB):c.542A>G (p.Gln181Arg)	VAPB (Q181R)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2170300	NM_004738.5(VAPB):c.59-11_59-10del	VAPB	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 2164468	NM_004738.5(VAPB):c.563A>G (p.Lys188Arg)	VAPB (K188R)	Single nucleotide variant (missense variant +2 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2160896	NM_004738.5(VAPB):c.384G>A (p.Glu128=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2158249	NM_004738.5(VAPB):c.59-3C>T	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2154502	NM_004738.5(VAPB):c.573+16C>A	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 2152649	NM_004738.5(VAPB):c.242A>G (p.Asn81Ser)	VAPB (N81S)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2148963	NM_004738.5(VAPB):c.547C>T (p.Leu183=)	VAPB	Single nucleotide variant (synonymous variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2122306	NM_004738.5(VAPB):c.256C>G (p.His86Asp)	VAPB (H86D)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2112456	NM_004738.5(VAPB):c.31G>C (p.Glu11Gln)	VAPB (E11Q)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2098792	NM_004738.5(VAPB):c.151A>G (p.Arg51Gly)	VAPB (R51G)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2079652	NM_004738.5(VAPB):c.402T>C (p.Asp134=)	VAPB	Single nucleotide variant (synonymous variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 2071490	NM_004738.5(VAPB):c.563dup (p.Gln189fs)	VAPB (Q189fs)	Duplication (frameshift variant +2 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2066497	NM_004738.5(VAPB):c.59-20G>A	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +1 more	GBenign
Select item 2062172	NM_004738.5(VAPB):c.178A>G (p.Ile60Val)	VAPB (I60V)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2054745	NM_004738.5(VAPB):c.58+18C>T	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 2051565	NM_004738.5(VAPB):c.149G>T (p.Arg50Leu)	VAPB (R50L)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2049675	NM_004738.5(VAPB):c.640A>G (p.Thr214Ala)	VAPB (N93S +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2047468	NM_004738.5(VAPB):c.301G>C (p.Asp101His)	VAPB (D101H)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2040674	NM_004738.5(VAPB):c.340C>G (p.Leu114Val)	VAPB (L114V)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2039625	NM_004738.5(VAPB):c.680T>C (p.Leu227Pro)	VAPB (L227P)	Single nucleotide variant (3 prime UTR variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2037620	NM_004738.5(VAPB):c.305T>C (p.Met102Thr)	VAPB (M102T)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2027924	NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT	VAPB	Insertion (intron variant)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 2023336	NM_004738.5(VAPB):c.166_167delinsGA (p.Pro56Asp)	VAPB (P56D)	Indel (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 2016800	NM_004738.5(VAPB):c.602C>T (p.Thr201Ile)	VAPB (T201I)	Single nucleotide variant (synonymous variant +2 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 1983198	NM_004738.5(VAPB):c.193G>A (p.Ala65Thr)	VAPB (A65T)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 1982406	NM_004738.5(VAPB):c.309A>G (p.Glu103=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 1963426	NM_004738.5(VAPB):c.229G>A (p.Asp77Asn)	VAPB (D77N)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 1960849	NM_004738.5(VAPB):c.719A>G (p.Lys240Arg)	VAPB (K240R)	Single nucleotide variant (3 prime UTR variant +2 more)	Amyotrophic lateral sclerosis type 8 +1 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 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 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 1720078	NM_004738.5(VAPB):c.116A>T (p.Asn39Ile)	VAPB (N39I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 1718163	NM_004738.5(VAPB):c.610A>G (p.Ser204Gly)	VAPB (E83G +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 1713640	NM_004738.5(VAPB):c.109G>C (p.Asp37His)	VAPB (D37H)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 1671583	NM_004738.5(VAPB):c.378A>G (p.Pro126=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 1670872	NM_004738.5(VAPB):c.211+19G>A	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 1666450	NM_004738.5(VAPB):c.315+15C>A	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 1630088	NM_004738.5(VAPB):c.573+18G>A	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 1622994	NM_004738.5(VAPB):c.564G>A (p.Lys188=)	VAPB	Single nucleotide variant (synonymous variant +2 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 1621351	NM_004738.5(VAPB):c.574-14G>A	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 1588682	NM_004738.5(VAPB):c.397-16A>G	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 1556606	NM_004738.5(VAPB):c.117T>C (p.Asn39=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 1545304	NM_004738.5(VAPB):c.58+13G>A	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 1543877	NM_004738.5(VAPB):c.316-17A>T	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 1539617	NM_004738.5(VAPB):c.699C>T (p.Ile233=)	VAPB	Single nucleotide variant (3 prime UTR variant +2 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 1530664	NM_004738.5(VAPB):c.316-17A>C	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +2 more	GBenign
Select item 1525281	NM_004738.5(VAPB):c.86A>G (p.Asn29Ser)	VAPB (N29S)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 1514067	NM_004738.5(VAPB):c.601A>T (p.Thr201Ser)	VAPB (T201S +1 more)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 1470770	NM_004738.5(VAPB):c.209C>T (p.Ser70Phe)	VAPB (S70F)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance

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