51112[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 237

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	LOC126806099, LOC126806100 +104 more	Copy number gain	See cases	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	LOC129933180, LOC129933181 +498 more	Copy number gain	See cases	GPathogenic
Select item 152440	GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GLikely pathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 154668	GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3	LOC132088842, LOC132088843 +107 more	Copy number gain	See cases	GPathogenic
Select item 146223	GRCh38/hg38 2p25.3(chr2:30341-3449132)x1	ACP1, ALKAL2 +75 more	Copy number loss	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 144454	GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC126806115, LOC126806116 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 more	Copy number gain	See cases	GPathogenic
Select item 149083	GRCh38/hg38 2p25.3(chr2:1844295-3488792)x3	EIPR1, LINC01250 +30 more	Copy number gain	See cases	GUncertain significance
Select item 58810	GRCh38/hg38 2p25.3(chr2:2542162-3678127)x3	ADI1, ALLC +44 more	Copy number gain	See cases	GUncertain significance
Select item 149319	GRCh38/hg38 2p25.3-25.2(chr2:2797196-4697562)x3	ADI1, ALLC +55 more	Copy number gain	See cases	GUncertain significance
Select item 151427	GRCh38/hg38 2p25.3(chr2:3288311-3410171)x3	EIPR1, LOC129932993 +5 more	Copy number gain	See cases	GLikely benign
Select item 58836	GRCh38/hg38 2p25.3(chr2:3293776-3858635)x3	ADI1, ALLC +29 more	Copy number gain	See cases	GUncertain significance
Select item 2401189	NM_016030.6(TRAPPC12):c.19G>A (p.Gly7Ser)	TRAPPC12 (G7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221667	NM_016030.6(TRAPPC12):c.25G>C (p.Glu9Gln)	TRAPPC12 (E9Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2229824	NM_016030.6(TRAPPC12):c.29C>T (p.Thr10Ile)	TRAPPC12 (T10I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2902792	NM_016030.6(TRAPPC12):c.38C>T (p.Pro13Leu)	TRAPPC12 (P13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2197518	NM_016030.6(TRAPPC12):c.41A>T (p.Glu14Val)	TRAPPC12 (E14V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2584443	NM_016030.6(TRAPPC12):c.56del (p.Pro19fs)	TRAPPC12 (P19fs)	Deletion (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2236089	NM_016030.6(TRAPPC12):c.55C>T (p.Pro19Ser)	TRAPPC12 (P19S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1614588	NM_016030.6(TRAPPC12):c.64G>A (p.Ala22Thr)	TRAPPC12 (A22T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3053837	NM_016030.6(TRAPPC12):c.69T>A (p.Pro23=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related condition	GLikely benign
Select item 2901969	NM_016030.6(TRAPPC12):c.73_74delinsTT (p.Glu25Leu)	TRAPPC12 (E25L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2064918	NM_016030.6(TRAPPC12):c.88C>G (p.Leu30Val)	TRAPPC12 (L30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052743	NM_016030.6(TRAPPC12):c.108C>T (p.Ile36=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related condition	GLikely benign
Select item 1530005	NM_016030.6(TRAPPC12):c.145G>A (p.Glu49Lys)	TRAPPC12 (E49K)	Single nucleotide variant (missense variant)	TRAPPC12-related condition +1 more	GBenign/Likely benign
Select item 438738	NM_016030.6(TRAPPC12):c.145del (p.Glu49fs)	TRAPPC12 (E49fs)	Deletion (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2892735	NM_016030.6(TRAPPC12):c.156G>A (p.Ser52=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671030	NM_016030.6(TRAPPC12):c.175G>A (p.Ala59Thr)	TRAPPC12 (A59T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2488328	NM_016030.6(TRAPPC12):c.176C>T (p.Ala59Val)	TRAPPC12 (A59V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2585068	NM_016030.6(TRAPPC12):c.195_196del (p.Met66fs)	TRAPPC12 (M66fs)	Microsatellite (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2221208	NM_016030.6(TRAPPC12):c.198G>T (p.Met66Ile)	TRAPPC12 (M66I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265728	NM_016030.6(TRAPPC12):c.200T>C (p.Met67Thr)	TRAPPC12 (M67T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065808	NM_016030.6(TRAPPC12):c.249_268del (p.Asp84fs)	TRAPPC12 (D84fs)	Deletion (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2356601	NM_016030.6(TRAPPC12):c.244G>A (p.Ala82Thr)	TRAPPC12 (A82T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2437251	NM_016030.6(TRAPPC12):c.250_258dup (p.Gly86_Arg87insAspLeuGly)	TRAPPC12	Duplication (inframe_insertion)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 3013852	NM_016030.6(TRAPPC12):c.249C>T (p.Gly83=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1430336	NM_016030.6(TRAPPC12):c.250G>T (p.Asp84Tyr)	TRAPPC12 (D84Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2334793	NM_016030.6(TRAPPC12):c.266G>C (p.Arg89Pro)	TRAPPC12 (R89P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2903266	NM_016030.6(TRAPPC12):c.336C>A (p.Gly112=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057990	NM_016030.6(TRAPPC12):c.339G>A (p.Glu113=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related condition +1 more	GLikely benign
Select item 2368720	NM_016030.6(TRAPPC12):c.341C>A (p.Ala114Asp)	TRAPPC12 (A114D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 430822	NM_016030.6(TRAPPC12):c.360dup (p.Glu121fs)	TRAPPC12 (E121fs)	Duplication (frameshift variant)	Progressive childhood encephalopathy +1 more	GPathogenic/Likely pathogenic
Select item 2611470	NM_016030.6(TRAPPC12):c.361G>C (p.Glu121Gln)	TRAPPC12 (E121Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805705	NM_016030.6(TRAPPC12):c.361G>A (p.Glu121Lys)	TRAPPC12 (E121K)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1027666	NM_016030.6(TRAPPC12):c.361G>T (p.Glu121Ter)	TRAPPC12 (E121*)	Single nucleotide variant (nonsense)	Severe hydrocephalus	GLikely pathogenic
Select item 2551076	NM_016030.6(TRAPPC12):c.367G>A (p.Ala123Thr)	TRAPPC12 (A123T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2985493	NM_016030.6(TRAPPC12):c.385G>A (p.Gly129Arg)	TRAPPC12 (G129R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923862	NM_016030.6(TRAPPC12):c.401A>C (p.Asp134Ala)	TRAPPC12 (D134A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3033106	NM_016030.6(TRAPPC12):c.426C>T (p.Ser142=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related condition	GLikely benign
Select item 1273981	NM_016030.6(TRAPPC12):c.432C>T (p.Ala144=)	TRAPPC12	Single nucleotide variant (synonymous variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +2 more	GBenign
Select item 2364583	NM_016030.6(TRAPPC12):c.433G>A (p.Ala145Thr)	TRAPPC12 (A145T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467995	NM_016030.6(TRAPPC12):c.445C>T (p.Gln149Ter)	TRAPPC12 (Q149*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1690675	NM_016030.6(TRAPPC12):c.473C>T (p.Pro158Leu)	TRAPPC12 (P158L)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1029570	NM_016030.6(TRAPPC12):c.496C>A (p.Arg166Ser)	TRAPPC12 (R166S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2074565	NM_016030.6(TRAPPC12):c.514G>A (p.Gly172Arg)	TRAPPC12 (G172R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 767779	NM_016030.6(TRAPPC12):c.519C>T (p.Asp173=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2650633	NM_016030.6(TRAPPC12):c.562G>A (p.Ala188Thr)	TRAPPC12 (A188T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2269582	NM_016030.6(TRAPPC12):c.577G>T (p.Ala193Ser)	TRAPPC12 (A193S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1380282	NM_016030.6(TRAPPC12):c.609C>A (p.Ser203Arg)	TRAPPC12 (S203R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2352719	NM_016030.6(TRAPPC12):c.611C>T (p.Pro204Leu)	TRAPPC12 (P204L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1932640	NM_016030.6(TRAPPC12):c.624G>T (p.Thr208=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671899	NM_016030.6(TRAPPC12):c.627C>T (p.Phe209=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1563174	NM_016030.6(TRAPPC12):c.633A>G (p.Gly211=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358105	NM_016030.6(TRAPPC12):c.636C>G (p.Asp212Glu)	TRAPPC12 (D212E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1386514	NM_016030.6(TRAPPC12):c.638C>T (p.Thr213Met)	TRAPPC12 (T213M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033387	NM_016030.6(TRAPPC12):c.641C>T (p.Ala214Val)	TRAPPC12 (A214V)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 1588324	NM_016030.6(TRAPPC12):c.663G>A (p.Ser221=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3068100	NM_016030.6(TRAPPC12):c.664G>T (p.Asp222Tyr)	TRAPPC12 (D222Y)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 2340793	NM_016030.6(TRAPPC12):c.678dup (p.Phe227fs)	TRAPPC12 (F227fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1574934	NM_016030.6(TRAPPC12):c.678C>A (p.Ser226=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1282559	NM_016030.6(TRAPPC12):c.681T>C (p.Phe227=)	TRAPPC12	Single nucleotide variant (synonymous variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +2 more	GBenign
Select item 1670508	NM_016030.6(TRAPPC12):c.733C>T (p.Pro245Ser)	TRAPPC12 (P245S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2310822	NM_016030.6(TRAPPC12):c.737C>A (p.Ala246Asp)	TRAPPC12 (A246D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369904	NM_016030.6(TRAPPC12):c.742C>T (p.Pro248Ser)	TRAPPC12 (P248S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601199	NM_016030.6(TRAPPC12):c.784C>T (p.Pro262Ser)	TRAPPC12 (P262S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2761934	NM_016030.6(TRAPPC12):c.789G>A (p.Val263=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883326	NM_016030.6(TRAPPC12):c.796C>A (p.Arg266=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168442	NM_016030.6(TRAPPC12):c.803C>T (p.Pro268Leu)	TRAPPC12 (P268L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2715684	NM_016030.6(TRAPPC12):c.804C>T (p.Pro268=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549289	NM_016030.6(TRAPPC12):c.807G>C (p.Gln269His)	TRAPPC12 (Q269H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335374	NM_016030.6(TRAPPC12):c.822G>A (p.Pro274=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636361	NM_016030.6(TRAPPC12):c.850C>T (p.Gln284Ter)	TRAPPC12 (Q284*)	Single nucleotide variant (nonsense)	TRAPPC12-related condition	GLikely pathogenic
Select item 2650634	NM_016030.6(TRAPPC12):c.879C>G (p.Pro293=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related condition +1 more	GLikely benign
Select item 2338443	NM_016030.6(TRAPPC12):c.889G>A (p.Ala297Thr)	TRAPPC12 (A297T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507501	NM_016030.6(TRAPPC12):c.898A>G (p.Met300Val)	TRAPPC12 (M300V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1252377	NM_016030.6(TRAPPC12):c.901A>G (p.Ser301Gly)	TRAPPC12 (S301G)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome +2 more	GBenign
Select item 1995629	NM_016030.6(TRAPPC12):c.903C>T (p.Ser301=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911808	NM_016030.6(TRAPPC12):c.926C>T (p.Ala309Val)	TRAPPC12 (A309V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598900	NM_016030.6(TRAPPC12):c.936C>T (p.Pro312=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3069113	NM_016030.6(TRAPPC12):c.979C>T (p.Gln327Ter)	TRAPPC12 (Q327*)	Single nucleotide variant (nonsense)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GPathogenic
Select item 3034223	NM_016030.6(TRAPPC12):c.990C>T (p.Ala330=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related condition	GLikely benign
Select item 2052049	NM_016030.6(TRAPPC12):c.993G>A (p.Val331=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related condition +1 more	GBenign/Likely benign

<< First< Prev

Page of 3