ClinVar for Gene (Select 7415) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251039	NM_007126.5(VCP):c.782A>C (p.Glu261Ala)	VCP (E216A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3188357	NM_007126.5(VCP):c.1394G>A (p.Arg465Gln)	VCP (R420Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068549	NM_007126.5(VCP):c.563C>T (p.Pro188Leu)	VCP (P143L +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3049753	NM_007126.5(VCP):c.1359+10A>C	VCP	Single nucleotide variant (intron variant)	VCP-related disorder	GLikely benign
Select item 3029510	NM_007126.5(VCP):c.2148C>T (p.Asn716=)	VCP	Single nucleotide variant (synonymous variant)	VCP-related disorder	GLikely benign
Select item 2954479	NM_007126.5(VCP):c.283C>A (p.Arg95Ser)	VCP (R50S +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely pathogenic
Select item 2954262	NM_007126.5(VCP):c.759G>C (p.Leu253=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2954125	NM_007126.5(VCP):c.1637A>G (p.Glu546Gly)	VCP (E501G +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2953705	NM_007126.5(VCP):c.2205C>T (p.His735=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2953472	NM_007126.5(VCP):c.446-19G>T	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2953403	NM_007126.5(VCP):c.1731T>C (p.Asp577=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2953121	NM_007126.5(VCP):c.2190G>T (p.Glu730Asp)	VCP (E685D +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2953112	NM_007126.5(VCP):c.168A>G (p.Thr56=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2952889	NM_007126.5(VCP):c.672G>C (p.Leu224=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2952307	NM_007126.5(VCP):c.411G>A (p.Pro137=)	VCP	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2951566	NM_007126.5(VCP):c.1359+11C>T	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2951449	NM_007126.5(VCP):c.1465C>T (p.Leu489=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2950014	NM_007126.5(VCP):c.487T>A (p.Phe163Ile)	VCP (F118I +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2948650	NM_007126.5(VCP):c.811+17A>G	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2948646	NM_007126.5(VCP):c.1115C>T (p.Pro372Leu)	VCP (P327L +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2948334	NM_007126.5(VCP):c.576+10C>T	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2947501	NM_007126.5(VCP):c.367G>C (p.Val123Leu)	VCP (V78L +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2947014	NM_007126.5(VCP):c.811+8A>G	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2944863	NM_007126.5(VCP):c.2161-20T>A	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2944592	NM_007126.5(VCP):c.1341T>C (p.Val447=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2944585	NM_007126.5(VCP):c.605G>A (p.Gly202Glu)	VCP (G157E +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2943913	NM_007126.5(VCP):c.467G>T (p.Gly156Val)	VCP (G156V +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2942975	NM_007126.5(VCP):c.1309A>G (p.Ile437Val)	VCP (I392V +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2942520	NM_007126.5(VCP):c.255T>C (p.Asn85=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2941904	NM_007126.5(VCP):c.2315+10T>C	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2941572	NM_007126.5(VCP):c.2420A>G (p.Ter807=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2941213	NM_007126.5(VCP):c.1972A>C (p.Lys658Gln)	VCP (K658Q +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2940228	NM_007126.5(VCP):c.2005-14G>A	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2939983	NM_007126.5(VCP):c.1287C>T (p.Leu429=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2939684	NM_007126.5(VCP):c.627C>T (p.Cys209=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2939485	NM_007126.5(VCP):c.2370C>T (p.Gly790=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2939293	NM_007126.5(VCP):c.1743G>T (p.Ser581=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2938877	NM_007126.5(VCP):c.130-20C>T	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2938750	NM_007126.5(VCP):c.1095G>A (p.Arg365=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2938309	NM_007126.5(VCP):c.399A>G (p.Val133=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2937349	NM_007126.5(VCP):c.1031T>C (p.Met344Thr)	VCP (M299T +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2937241	NM_007126.5(VCP):c.811+13G>T	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2937170	NM_007126.5(VCP):c.812-19C>G	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2936575	NM_007126.5(VCP):c.401A>T (p.Tyr134Phe)	VCP (Y134F +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2936557	NM_007126.5(VCP):c.555A>G (p.Glu185=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2935921	NM_007126.5(VCP):c.288A>G (p.Leu96=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2935546	NM_007126.5(VCP):c.666G>A (p.Leu222=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2934845	NM_007126.5(VCP):c.811+9T>C	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2934749	NM_007126.5(VCP):c.244A>C (p.Ile82Leu)	VCP (I82L +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2933056	NM_007126.5(VCP):c.1528C>T (p.Pro510Ser)	VCP (P465S +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2932855	NM_007126.5(VCP):c.1383A>G (p.Pro461=)	VCP	Single nucleotide variant (synonymous variant)	VCP-related disorder +2 more	GLikely benign
Select item 2932486	NM_007126.5(VCP):c.576+14_576+15del	VCP	Deletion (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2931579	NM_007126.5(VCP):c.303-4T>G	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2931374	NM_007126.5(VCP):c.1842A>G (p.Lys614=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2931163	NM_007126.5(VCP):c.1696-3C>T	VCP	Single nucleotide variant (intron variant)	VCP-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2930813	NM_007126.5(VCP):c.709-19_709-18del	VCP	Microsatellite (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2930746	NM_007126.5(VCP):c.9T>C (p.Ser3=)	VCP	Single nucleotide variant (5 prime UTR variant +1 more)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2930335	NM_007126.5(VCP):c.2004+8C>T	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2930293	NM_007126.5(VCP):c.17+8_17+9del	LOC130001690, VCP	Microsatellite (5 prime UTR variant +1 more)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2930112	NM_007126.5(VCP):c.2391A>G (p.Thr797=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2928580	NM_007126.5(VCP):c.1333C>T (p.Leu445=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2928269	NM_007126.5(VCP):c.2298G>A (p.Arg766=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2928063	NM_007126.5(VCP):c.230G>A (p.Cys77Tyr)	VCP (C77Y +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2927785	NM_007126.5(VCP):c.1722A>G (p.Leu574=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2927511	NM_007126.5(VCP):c.446-4G>T	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2927491	NM_007126.5(VCP):c.1359+16G>A	VCP	Single nucleotide variant (intron variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2926620	NM_007126.5(VCP):c.951T>C (p.His317=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2926569	NM_007126.5(VCP):c.2373A>G (p.Thr791=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2925944	NM_007126.5(VCP):c.1307C>T (p.Thr436Ile)	VCP (T391I +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2925445	NM_007126.5(VCP):c.2234G>A (p.Arg745His)	VCP (R745H +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2925195	NM_007126.5(VCP):c.1743G>A (p.Ser581=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2925170	NM_007126.5(VCP):c.2367C>T (p.Gly789=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2925104	NM_007126.5(VCP):c.291G>A (p.Gly97=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +2 more	GLikely benign
Select item 2924884	NM_007126.5(VCP):c.1699C>T (p.Arg567Cys)	VCP (R567C +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2923783	NM_007126.5(VCP):c.1569G>T (p.Gly523=)	VCP	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GLikely benign
Select item 2922663	NM_007126.5(VCP):c.735A>G (p.Gly245=)	VCP	Single nucleotide variant (synonymous variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GLikely benign
Select item 2921716	NM_007126.5(VCP):c.382G>C (p.Gly128Arg)	VCP (G128R +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2921507	NM_007126.5(VCP):c.2111A>C (p.Glu704Ala)	VCP (E704A +1 more)	Single nucleotide variant (missense variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2921393	NM_007126.5(VCP):c.2315+6T>C	VCP	Single nucleotide variant (intron variant)	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more	GUncertain significance
Select item 2690438	NM_007126.5(VCP):c.722T>G (p.Ile241Ser)	VCP (I196S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2662302	NM_007126.5(VCP):c.2179C>A (p.Pro727Thr)	VCP (P682T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662020	NM_007126.5(VCP):c.124T>C (p.Ser42Pro)	VCP (S42P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2659168	NM_007126.5(VCP):c.166A>G (p.Thr56Ala)	VCP (T11A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2584478	NM_007126.5(VCP):c.742G>A (p.Gly248Arg)	VCP (G203R +1 more)	Single nucleotide variant (missense variant)	VCP-related disorder	GLikely pathogenic
Select item 2582682	NM_007126.5(VCP):c.1622C>A (p.Ser541Tyr)	VCP (S496Y +1 more)	Single nucleotide variant (missense variant)	Childhood Onset VCP-related Neurodevelopmental Disorder	GLikely pathogenic
Select item 2582681	NM_007126.5(VCP):c.1084C>T (p.Arg362Cys)	VCP (R317C +1 more)	Single nucleotide variant (missense variant)	Childhood Onset VCP-related Neurodevelopmental Disorder	GLikely pathogenic
Select item 2582680	NM_007126.5(VCP):c.898ATC[1] (p.Ile301del)	VCP (I256del +1 more)	Microsatellite (inframe_deletion)	Childhood Onset VCP-related Neurodevelopmental Disorder	GUncertain significance
Select item 2582679	NM_007126.5(VCP):c.766C>G (p.Arg256Gly)	VCP (R211G +1 more)	Single nucleotide variant (missense variant)	Childhood Onset VCP-related Neurodevelopmental Disorder +3 more	GLikely pathogenic
Select item 2582678	NM_007126.5(VCP):c.753G>T (p.Lys251Asn)	VCP (K206N +1 more)	Single nucleotide variant (missense variant)	Childhood Onset VCP-related Neurodevelopmental Disorder	GLikely pathogenic
Select item 2582677	NM_007126.5(VCP):c.685C>T (p.Leu229Phe)	VCP (L184F +1 more)	Single nucleotide variant (missense variant)	Childhood Onset VCP-related Neurodevelopmental Disorder	GUncertain significance
Select item 2579447	NM_007126.5(VCP):c.1550A>G (p.Tyr517Cys)	VCP (Y472C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575609	NM_007126.5(VCP):c.892C>T (p.Pro298Ser)	VCP (P253S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556908	NM_007126.5(VCP):c.2352T>G (p.Ser784Arg)	VCP (S739R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504538	NM_007126.5(VCP):c.146T>C (p.Leu49Ser)	VCP (L49S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504537	NM_007126.5(VCP):c.230G>T (p.Cys77Phe)	VCP (C32F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499091	NM_007126.5(VCP):c.-233GCTGCC[5]	VCP	Microsatellite (5 prime UTR variant)	not provided	GLikely benign

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