ClinVar for Gene (Select 23511) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355905	NM_015354.3(NUP188):c.3429+5G>A	NUP188	Single nucleotide variant (intron variant)	NUP188-related disorder	GUncertain significance
Select item 3349458	NM_015354.3(NUP188):c.2573dup (p.Tyr858Ter)	NUP188 (Y858*)	Duplication (nonsense)	NUP188-related disorder	GLikely pathogenic
Select item 3342121	NM_015354.3(NUP188):c.4605C>G (p.Pro1535=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3301503	NM_015354.3(NUP188):c.4424G>A (p.Arg1475His)	NUP188 (R1475H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301502	NM_015354.3(NUP188):c.4856A>G (p.Asn1619Ser)	NUP188 (N1619S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301501	NM_015354.3(NUP188):c.4997C>T (p.Ala1666Val)	NUP188 (A1666V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301500	NM_015354.3(NUP188):c.3547C>A (p.Pro1183Thr)	NUP188 (P1183T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301499	NM_015354.3(NUP188):c.2639C>T (p.Thr880Met)	NUP188 (T880M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301498	NM_015354.3(NUP188):c.4154G>A (p.Arg1385Gln)	NUP188 (R1385Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301497	NM_015354.3(NUP188):c.5125T>C (p.Ser1709Pro)	NUP188 (S1709P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301496	NM_015354.3(NUP188):c.4448A>G (p.Tyr1483Cys)	NUP188 (Y1483C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301495	NM_015354.3(NUP188):c.2516A>G (p.Gln839Arg)	NUP188 (Q839R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301494	NM_015354.3(NUP188):c.1795C>T (p.Arg599Trp)	NUP188 (R599W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301492	NM_015354.3(NUP188):c.1172C>T (p.Ser391Leu)	NUP188 (S391L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301491	NM_015354.3(NUP188):c.4252G>A (p.Glu1418Lys)	NUP188 (E1418K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301490	NM_015354.3(NUP188):c.5234G>A (p.Arg1745Gln)	LOC130002730, NUP188 (R1745Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301489	NM_015354.3(NUP188):c.458C>T (p.Pro153Leu)	NUP188 (P153L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301488	NM_015354.3(NUP188):c.5213A>G (p.Gln1738Arg)	LOC130002730, NUP188 (Q1738R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257464	NM_015354.3(NUP188):c.1541C>T (p.Pro514Leu)	NUP188 (P514L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257268	NM_015354.3(NUP188):c.2072T>C (p.Val691Ala)	NUP188 (V691A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257016	NM_015354.3(NUP188):c.4431C>T (p.Ile1477=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254833	NM_015354.3(NUP188):c.3030G>C (p.Trp1010Cys)	NUP188 (W1010C)	Single nucleotide variant (missense variant)	Sandestig-stefanova syndrome	GUncertain significance
Select item 3254588	NM_015354.3(NUP188):c.5153C>T (p.Pro1718Leu)	NUP188 (P1718L)	Single nucleotide variant (missense variant)	Sandestig-stefanova syndrome	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3203060	NM_015354.3(NUP188):c.5233C>T (p.Arg1745Trp)	LOC130002730, NUP188 (R1745W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203059	NM_015354.3(NUP188):c.5147C>T (p.Pro1716Leu)	NUP188 (P1716L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203058	NM_015354.3(NUP188):c.4840G>A (p.Val1614Met)	NUP188 (V1614M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203057	NM_015354.3(NUP188):c.4606G>A (p.Ala1536Thr)	NUP188 (A1536T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3203056	NM_015354.3(NUP188):c.4397G>T (p.Trp1466Leu)	NUP188 (W1466L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203055	NM_015354.3(NUP188):c.4091T>C (p.Leu1364Ser)	NUP188 (L1364S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203054	NM_015354.3(NUP188):c.3892G>A (p.Glu1298Lys)	NUP188 (E1298K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203053	NM_015354.3(NUP188):c.3836G>A (p.Arg1279His)	NUP188 (R1279H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203052	NM_015354.3(NUP188):c.3451A>G (p.Asn1151Asp)	NUP188 (N1151D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203051	NM_015354.3(NUP188):c.3377C>A (p.Ser1126Tyr)	NUP188 (S1126Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203049	NM_015354.3(NUP188):c.3183T>A (p.Asp1061Glu)	NUP188 (D1061E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203048	NM_015354.3(NUP188):c.3065C>T (p.Ser1022Phe)	NUP188 (S1022F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203047	NM_015354.3(NUP188):c.2905C>A (p.Gln969Lys)	NUP188 (Q969K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203046	NM_015354.3(NUP188):c.26G>A (p.Cys9Tyr)	NUP188 (C9Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203045	NM_015354.3(NUP188):c.2473A>G (p.Ile825Val)	NUP188 (I825V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203044	NM_015354.3(NUP188):c.2353G>A (p.Val785Met)	NUP188 (V785M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203043	NM_015354.3(NUP188):c.2210T>C (p.Leu737Ser)	NUP188 (L737S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203042	NM_015354.3(NUP188):c.2003T>C (p.Met668Thr)	NUP188 (M668T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203041	NM_015354.3(NUP188):c.1988A>T (p.Tyr663Phe)	NUP188 (Y663F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203040	NM_015354.3(NUP188):c.1833T>G (p.Ile611Met)	NUP188 (I611M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203038	NM_015354.3(NUP188):c.1424A>G (p.Asn475Ser)	NUP188 (N475S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203037	NM_015354.3(NUP188):c.1396A>G (p.Ser466Gly)	NUP188 (S466G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203036	NM_015354.3(NUP188):c.1325A>G (p.His442Arg)	NUP188 (H442R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203035	NM_015354.3(NUP188):c.121C>T (p.Arg41Trp)	NUP188 (R41W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203034	NM_015354.3(NUP188):c.1214A>G (p.Asp405Gly)	NUP188 (D405G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203033	NM_015354.3(NUP188):c.1169C>G (p.Thr390Ser)	NUP188 (T390S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203032	NM_015354.3(NUP188):c.1136T>C (p.Met379Thr)	NUP188 (M379T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067513	NM_015354.3(NUP188):c.5109C>T (p.Arg1703=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3059193	NM_015354.3(NUP188):c.2580C>T (p.Tyr860=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GBenign
Select item 3058733	NM_015354.3(NUP188):c.2264+5T>C	NUP188	Single nucleotide variant (intron variant)	NUP188-related disorder	GLikely benign
Select item 3058551	NM_015354.3(NUP188):c.5226G>A (p.Ala1742=)	LOC130002730, NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 3057981	NM_015354.3(NUP188):c.4737+4C>T	NUP188	Single nucleotide variant (intron variant)	NUP188-related disorder	GLikely benign
Select item 3057487	NM_015354.3(NUP188):c.1567T>C (p.Leu523=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 3055278	NM_015354.3(NUP188):c.1231T>C (p.Leu411=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 3053658	NM_015354.3(NUP188):c.4125C>T (p.Asn1375=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 3052988	NM_015354.3(NUP188):c.5094C>G (p.Leu1698=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 3051816	NM_015354.3(NUP188):c.4738-3C>T	NUP188	Single nucleotide variant (intron variant)	NUP188-related disorder	GLikely benign
Select item 3051611	NM_015354.3(NUP188):c.614T>C (p.Val205Ala)	NUP188 (V205A)	Single nucleotide variant (missense variant)	NUP188-related disorder	GLikely benign
Select item 3050588	NM_015354.3(NUP188):c.4077C>T (p.Thr1359=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 3047375	NM_015354.3(NUP188):c.2094C>T (p.Thr698=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 3046084	NM_015354.3(NUP188):c.456C>T (p.His152=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GBenign
Select item 3045850	NM_015354.3(NUP188):c.3624A>G (p.Ser1208=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 3045752	NM_015354.3(NUP188):c.2640+10T>C	NUP188	Single nucleotide variant (intron variant)	NUP188-related disorder	GBenign
Select item 3045199	NM_015354.3(NUP188):c.4369C>T (p.Leu1457=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 3044776	NM_015354.3(NUP188):c.3204C>T (p.Ile1068=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 3043649	NM_015354.3(NUP188):c.4914C>T (p.Ser1638=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GBenign
Select item 3042188	NM_015354.3(NUP188):c.4036A>G (p.Thr1346Ala)	NUP188 (T1346A)	Single nucleotide variant (missense variant)	NUP188-related disorder	GBenign
Select item 3041397	NM_015354.3(NUP188):c.784G>A (p.Val262Ile)	NUP188 (V262I)	Single nucleotide variant (missense variant)	NUP188-related disorder	GLikely benign
Select item 3040580	NM_015354.3(NUP188):c.1759C>T (p.Leu587=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GLikely benign
Select item 3040531	NM_015354.3(NUP188):c.837C>T (p.Ile279=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GBenign
Select item 3040446	NM_015354.3(NUP188):c.5074-5T>C	NUP188	Single nucleotide variant (intron variant)	NUP188-related disorder	GBenign
Select item 3039492	NM_015354.3(NUP188):c.3386G>A (p.Arg1129His)	NUP188 (R1129H)	Single nucleotide variant (missense variant)	NUP188-related disorder	GBenign
Select item 3039117	NM_015354.3(NUP188):c.3088-10A>G	NUP188	Single nucleotide variant (intron variant)	NUP188-related disorder	GBenign
Select item 3038547	NM_015354.3(NUP188):c.592C>A (p.Arg198Ser)	NUP188 (R198S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3037943	NM_015354.3(NUP188):c.2935C>T (p.Leu979=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GBenign
Select item 3037702	NM_015354.3(NUP188):c.4509+7G>A	NUP188	Single nucleotide variant (intron variant)	NUP188-related disorder	GBenign
Select item 3037146	NM_015354.3(NUP188):c.5079G>A (p.Thr1693=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GBenign
Select item 3033125	NM_015354.3(NUP188):c.2223T>C (p.His741=)	NUP188	Single nucleotide variant (synonymous variant)	NUP188-related disorder	GBenign
Select item 3027238	NM_015354.3(NUP188):c.1005A>G (p.Pro335=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027134	NM_015354.3(NUP188):c.3133T>C (p.Leu1045=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026045	NM_015354.3(NUP188):c.1563A>G (p.Val521=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025877	NM_015354.3(NUP188):c.4347G>A (p.Ala1449=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025649	NM_015354.3(NUP188):c.825G>A (p.Glu275=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025487	NM_015354.3(NUP188):c.1743G>A (p.Ser581=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2682548	NM_015354.3(NUP188):c.2640+19C>A	NUP188	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2682547	NM_015354.3(NUP188):c.2347A>G (p.Ile783Val)	NUP188 (I783V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2662431	NM_015354.3(NUP188):c.1075A>T (p.Thr359Ser)	NUP188 (T359S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2659570	NM_015354.3(NUP188):c.5215T>C (p.Leu1739=)	LOC130002730, NUP188	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659569	NM_015354.3(NUP188):c.4902A>C (p.Ala1634=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659568	NM_015354.3(NUP188):c.4761C>G (p.Asn1587Lys)	NUP188 (N1587K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659567	NM_015354.3(NUP188):c.4638C>G (p.Ala1546=)	NUP188	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659566	NM_015354.3(NUP188):c.4574C>T (p.Ala1525Val)	NUP188 (A1525V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659565	NM_015354.3(NUP188):c.4510-1G>T	NUP188	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance

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