12649[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 1182367	NC_000020.11:g.58389041A>G	LOC130066253, VAPB	Single nucleotide variant	not provided	GBenign
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	Amyotrophic lateral sclerosis type 8 +1 more	GBenign
Select item 338919	NM_004738.4(VAPB):c.-283A>C	LOC130066253, VAPB	Single nucleotide variant	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 1291432	NC_000020.11:g.58389211GTGC[8]	LOC130066253, VAPB	Microsatellite (genic upstream transcript variant)	not provided	GBenign
Select item 338920	NM_004738.4(VAPB):c.-229_-226dupGTGC	LOC130066253, VAPB	Microsatellite	Amyotrophic Lateral Sclerosis, Dominant +2 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 1297397	NM_004738.5(VAPB):c.-150_-149dup	LOC130066253, VAPB	Duplication (5 prime UTR variant +1 more)	not provided	GBenign
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 1195499	NM_004738.5(VAPB):c.-149del	VAPB, LOC130066253	Deletion (5 prime UTR variant +1 more)	not provided	GLikely 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)	Amyotrophic lateral sclerosis type 8 +2 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 3354206	NM_004738.5(VAPB):c.-7A>G	VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	VAPB-related disorder	GLikely benign
Select item 3353298	NM_004738.5(VAPB):c.-5G>A	VAPB	Single nucleotide variant (5 prime UTR variant +1 more)	VAPB-related disorder	GLikely benign
Select item 1371919	NM_004738.5(VAPB):c.13G>A (p.Glu5Lys)	VAPB (E5K)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 834206	NM_004738.5(VAPB):c.14A>G (p.Glu5Gly)	VAPB (E5G)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
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 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 741738	NM_004738.5(VAPB):c.21C>G (p.Val7=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 8 +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 338929	NM_004738.5(VAPB):c.30C>T (p.Leu10=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 850683	NM_004738.5(VAPB):c.34C>T (p.Pro12Ser)	VAPB (P12S)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 1015007	NM_004738.5(VAPB):c.35C>T (p.Pro12Leu)	VAPB (P12L)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +2 more	GUncertain significance
Select item 1062695	NM_004738.5(VAPB):c.38A>C (p.Gln13Pro)	VAPB (Q13P)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
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)	Amyotrophic lateral sclerosis type 8 +2 more	GConflicting classifications of pathogenicity
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 755692	NM_004738.5(VAPB):c.58+9C>T	VAPB	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 8 +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 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 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 1269608	NM_004738.5(VAPB):c.58+285C>T	VAPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189398	NM_004738.5(VAPB):c.59-168G>A	VAPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204600	NM_004738.5(VAPB):c.59-49C>G	VAPB	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 465876	NM_004738.5(VAPB):c.59-4A>G	VAPB	Single nucleotide variant (intron variant)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +3 more	GBenign/Likely 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 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 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 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 1085974	NM_004738.5(VAPB):c.78C>T (p.Val26=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GLikely benign
Select item 1408648	NM_004738.5(VAPB):c.82A>G (p.Thr28Ala)	VAPB (T28A)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 1357097	NM_004738.5(VAPB):c.85A>G (p.Asn29Asp)	VAPB (N29D)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
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 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 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 534272	NM_004738.5(VAPB):c.104C>T (p.Pro35Leu)	VAPB (P35L)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 702264	NM_004738.5(VAPB):c.105G>A (p.Pro35=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GBenign
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 1409748	NM_004738.5(VAPB):c.110A>C (p.Asp37Ala)	VAPB (D37A)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 1139855	NM_004738.5(VAPB):c.111C>T (p.Asp37=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
Select item 579701	NM_004738.5(VAPB):c.111C>A (p.Asp37Glu)	VAPB (D37E)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 3354276	NM_004738.5(VAPB):c.113G>A (p.Arg38Gln)	VAPB (R38Q)	Single nucleotide variant (missense variant +1 more)	VAPB-related disorder	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 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 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 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 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 30510	NM_004738.5(VAPB):c.137C>T (p.Thr46Ile)	VAPB (T46I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8	GPathogenic
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 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 586924	NM_004738.5(VAPB):c.156C>T (p.Tyr52=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely 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 1105282	NM_004738.5(VAPB):c.163A>C (p.Arg55=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
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 4806	NM_004738.5(VAPB):c.166C>T (p.Pro56Ser)	VAPB (P56S)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +2 more	GPathogenic
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 1810152	NM_004738.5(VAPB):c.172del (p.Ser58fs)	VAPB (S58fs)	Deletion (frameshift variant +1 more)	not provided	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 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 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 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 1121358	NM_004738.5(VAPB):c.189A>C (p.Ala63=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GLikely benign
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 534269	NM_004738.5(VAPB):c.194C>T (p.Ala65Val)	VAPB (A65V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8 +1 more	GUncertain significance
Select item 534273	NM_004738.5(VAPB):c.195C>A (p.Ala65=)	VAPB	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +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 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 1470770	NM_004738.5(VAPB):c.209C>T (p.Ser70Phe)	VAPB (S70F)	Single nucleotide variant (missense variant +1 more)	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance

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