Trp --> stop - ClinVar

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Items: 98

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3401	NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)	NPHP4 (R682* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic
Select item 2406	NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter)	PINK1, PINK1-AS (W437*)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 12184	NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter)	HSD3B2 (W171*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3869	NM_006623.4(PHGDH):c.714del (p.Ile239fs)	PHGDH (I239fs)	Deletion (frameshift variant)	PHGDH deficiency	GPathogenic
Select item 2365	NM_213653.4(HJV):c.959G>T (p.Gly320Val)	HJV (G320V +2 more)	Single nucleotide variant (missense variant)	Juvenile hemochromatosis +2 more	GPathogenic
Select item 869407	NM_015909.4(NBAS):c.2617C>T (p.Arg873Trp)	NBAS (R873W)	Single nucleotide variant (missense variant +1 more)	Infantile liver failure syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 972257	NM_000312.4(PROC):c.41G>A (p.Trp14Ter)	PROC (W75* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 12041	NM_001018115.3(FANCD2):c.958C>T (p.Gln320Ter)	LOC107303338, FANCD2 (Q320*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D2 +1 more	GPathogenic
Select item 50962	NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)	NGLY1 (R401* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3386	NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)	EVC2 (Q1009* +1 more)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome +2 more	GPathogenic
Select item 13517	NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)	PKD2 (W380*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 4089	NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	SLC26A2 (R279W)	Single nucleotide variant (missense variant)	Diastrophic dysplasia +10 more	GPathogenic/Likely pathogenic
Select item 16537	NM_000129.4(F13A1):c.691-1G>A	F13A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 9296	NM_001024630.4(RUNX2):c.891G>A (p.Trp297Ter)	RUNX2 (W283* +1 more)	Single nucleotide variant (nonsense)	Cleidocranial dysostosis	GPathogenic
Select item 279703	NM_152743.4(BRAT1):c.294dup (p.Leu99fs)	BRAT1 (L99fs)	Duplication (frameshift variant +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +3 more	GPathogenic/Likely pathogenic
Select item 900	NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)	GUSB, LOC126860055 (W507* +3 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 7 +1 more	GPathogenic
Select item 7519	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	PEX1 (I643fs +2 more)	Duplication (frameshift variant)	Heimler syndrome 1 +8 more	GPathogenic
Select item 7179	NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)	LOC113664106, CFTR (W57*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 3338721	NM_004333.6(BRAF):c.2301A>G (p.Ter767Trp)	BRAF	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 14431	NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter)	KCNH2 (W1001* +2 more)	Single nucleotide variant (nonsense +1 more)	Long QT syndrome +1 more	GPathogenic
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +6 more	GPathogenic
Select item 6063	NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)	RECQL4 (Q757*)	Single nucleotide variant (nonsense)	Baller-Gerold syndrome +6 more	GPathogenic
Select item 697	NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter)	ADAMTSL2 (W862*)	Single nucleotide variant (nonsense)	Geleophysic dysplasia 1	GPathogenic
Select item 6175	NM_078470.6(COX15):c.649C>T (p.Arg217Trp)	COX15 (R217W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 15431	NM_000518.5(HBB):c.112del (p.Trp38fs)	HBB, LOC106099062 +1 more (W38fs)	Deletion (frameshift variant)	Hemoglobinopathy +11 more	GPathogenic
Select item 15076	NM_000519.4(HBD):c.113G>A (p.Trp38Ter)	HBD, LOC106099063 (W38*)	Single nucleotide variant (nonsense)	Delta-0-thalassemia	GPathogenic
Select item 30817	NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs)	BBS10 (P350fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1683875	NM_006346.4(PIBF1):c.2273A>G (p.Ter758Trp)	PIBF1	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 16635	NM_001122659.3(EDNRB):c.824G>A (p.Trp275Ter)	EDNRB, EDNRB-AS1 (W275* +1 more)	Single nucleotide variant (nonsense)	Hirschsprung disease, susceptibility to, 2	Grisk factor
Select item 1166312	NM_000814.6(GABRB3):c.241-7465G>A	GABRB3 (W2*)	Single nucleotide variant (nonsense +2 more)	Epilepsy, childhood absence, susceptibility to, 1 +1 more	GBenign
Select item 4064	NM_001363711.2(DUOX2):c.2524C>T (p.Arg842Ter)	DUOX2 (R842*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 811820	NM_000558.5(HBA1):c.45G>A (p.Trp15Ter)	HBA1, LOC106804613 (W15*)	Single nucleotide variant (nonsense)	Erythrocytosis, familial, 7 +1 more	GPathogenic
Select item 6564	NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp)	ABCC6 (R1314W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 18357	NM_000080.4(CHRNE):c.614_620del (p.Trp205fs)	C17orf107, CHRNE (W205fs)	Deletion (frameshift variant +1 more)	Congenital myasthenic syndrome 4B +4 more	GPathogenic
Select item 3343776	NM_000937.5(POLR2A):c.5913A>G (p.Ter1971Trp)	POLR2A	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 30995	NM_025099.6(CTC1):c.724_727del (p.Lys242fs)	CTC1 (K242fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 827574	NM_001369369.1(FOXN1):c.933_936dup (p.Asp313fs)	FOXN1 (D313fs)	Duplication (frameshift variant)	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	GPathogenic
Select item 410552	NM_002878.4(RAD51D):c.803G>A (p.Trp268Ter)	RAD51D, RAD51L3-RFFL (W268* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GPathogenic
Select item 2428	NM_153006.3(NAGS):c.971G>A (p.Trp324Ter)	NAGS (W324*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GPathogenic
Select item 992583	NM_001267727.2(ARSG):c.1326del (p.Ser443fs)	ARSG, PRKAR1A (S442fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 4250	NM_001080467.3(MYO5B):c.1125G>A (p.Trp375Ter)	MYO5B (W375*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 550237	NM_020533.3(MCOLN1):c.38_41dup (p.Leu15fs)	MCOLN1 (L15fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 370580	NM_020533.3(MCOLN1):c.54dup (p.Asn19fs)	MCOLN1 (N19fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 1402137	NM_020533.3(MCOLN1):c.66T>G (p.Tyr22Ter)	MCOLN1 (Y22*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 1452230	NM_020533.3(MCOLN1):c.95dup (p.Pro33fs)	MCOLN1 (P33fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 1072052	NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter)	MCOLN1 (C53*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 1414260	NM_020533.3(MCOLN1):c.165del (p.Lys55fs)	MCOLN1 (K55fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 951639	NM_020533.3(MCOLN1):c.166_182del (p.Phe56fs)	MCOLN1 (F56fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 1072635	NM_020533.3(MCOLN1):c.169C>T (p.Arg57Ter)	MCOLN1 (R57*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 836263	NM_020533.3(MCOLN1):c.192C>A (p.Cys64Ter)	MCOLN1 (C64*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 1451357	NM_020533.3(MCOLN1):c.230del (p.Thr77fs)	MCOLN1 (T77fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 5136	NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter)	MCOLN1 (R102*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 817247	NM_020533.3(MCOLN1):c.321_328del (p.Tyr109fs)	MCOLN1 (Y109fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2107563	NM_020533.3(MCOLN1):c.327C>G (p.Tyr109Ter)	MCOLN1 (Y109*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 1377765	NM_020533.3(MCOLN1):c.419del (p.Pro140fs)	MCOLN1 (P140fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 661439	NM_020533.3(MCOLN1):c.445dup (p.Tyr149fs)	MCOLN1 (Y149fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 1074644	NM_020533.3(MCOLN1):c.499C>T (p.Gln167Ter)	MCOLN1 (Q167*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 1453483	NM_020533.3(MCOLN1):c.504del (p.Tyr169fs)	MCOLN1 (Y169fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 2710117	NM_020533.3(MCOLN1):c.507del (p.Tyr170fs)	MCOLN1 (Y170fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 1460387	NM_020533.3(MCOLN1):c.507C>G (p.Tyr169Ter)	MCOLN1 (Y169*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 208030	NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter)	MCOLN1 (R172*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 1068939	NM_020533.3(MCOLN1):c.594del (p.Glu199fs)	MCOLN1 (E199fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 1725915	NM_020533.3(MCOLN1):c.608del (p.Pro203fs)	MCOLN1 (P203fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 280304	NM_020533.3(MCOLN1):c.615dup (p.Ser206fs)	MCOLN1 (S206fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 3124442	NM_020533.3(MCOLN1):c.641dup (p.Ser214fs)	MCOLN1 (S214fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1452538	NM_020533.3(MCOLN1):c.654C>A (p.Tyr218Ter)	MCOLN1 (Y218*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 1072781	NM_020533.3(MCOLN1):c.724del (p.Leu242fs)	MCOLN1 (L242fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 2102536	NM_020533.3(MCOLN1):c.762T>G (p.Tyr254Ter)	MCOLN1 (Y254*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 2200282	NM_020533.3(MCOLN1):c.832C>T (p.Gln278Ter)	MCOLN1 (Q278*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 1455180	NM_020533.3(MCOLN1):c.844C>T (p.Gln282Ter)	MCOLN1 (Q282*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 2199422	NM_020533.3(MCOLN1):c.871C>T (p.Gln291Ter)	MCOLN1 (Q291*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 970981	NM_020533.3(MCOLN1):c.874_877delinsTACT (p.His292_Gly293delinsTyrTer)	MCOLN1	Indel (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 860465	NM_020533.3(MCOLN1):c.880_881del (p.Asp294fs)	MCOLN1 (D294fs)	Microsatellite (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 208039	NM_020533.3(MCOLN1):c.920del (p.Leu307fs)	MCOLN1 (L307fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2841265	NM_020533.3(MCOLN1):c.940del (p.Leu314fs)	MCOLN1 (L314fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 1386426	NM_020533.3(MCOLN1):c.948dup (p.Ala317fs)	MCOLN1 (A317fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 5133	NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)	MCOLN1 (R322*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV +2 more	GPathogenic/Likely pathogenic
Select item 1997684	NM_020533.3(MCOLN1):c.1005G>A (p.Trp335Ter)	MCOLN1 (W335*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 2704857	NM_020533.3(MCOLN1):c.1036del (p.Glu346fs)	MCOLN1 (E346fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 370970	NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs)	MCOLN1 (F350fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2055678	NM_020533.3(MCOLN1):c.1208_1218del (p.Arg403fs)	MCOLN1 (R403fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 5137	NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)	MCOLN1 (R403C)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GPathogenic/Likely pathogenic
Select item 208028	NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs)	MCOLN1 (Y404fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 2718988	NM_020533.3(MCOLN1):c.1212C>A (p.Tyr404Ter)	MCOLN1 (Y404*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 208029	NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)	MCOLN1 (S488fs)	Duplication (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 1335968	NM_020533.3(MCOLN1):c.1538del (p.Phe513fs)	MCOLN1 (F513fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2005775	NM_020533.3(MCOLN1):c.1569del (p.Ile524fs)	MCOLN1 (I524fs)	Deletion (frameshift variant)	Mucolipidosis type IV	GPathogenic
Select item 1454517	NM_020533.3(MCOLN1):c.1627C>T (p.Gln543Ter)	MCOLN1 (Q543*)	Single nucleotide variant (nonsense)	Mucolipidosis type IV	GPathogenic
Select item 250973	NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)	LDLR, LDLR-AS1 (W4*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 66067	NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)	LOC117038795, RNASEH2A	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 4 +2 more	GPathogenic/Likely pathogenic
Select item 12952	NM_000687.4(AHCY):c.336G>A (p.Trp112Ter)	AHCY (W112* +2 more)	Single nucleotide variant (nonsense)	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	GPathogenic
Select item 225546	NM_015937.6(PIGT):c.250G>T (p.Glu84Ter)	PIGT (E84*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 504870	NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter)	TSPEAR (R510* +1 more)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis +3 more	GConflicting classifications of pathogenicity
Select item 2158	NM_001127649.3(PEX26):c.254dup (p.Cys86fs)	PEX26 (C86fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 7A (Zellweger) +1 more	GPathogenic
Select item 11163	NM_000074.3(CD40LG):c.419G>A (p.Trp140Ter)	CD40LG (W140*)	Single nucleotide variant (nonsense)	Hyper-IgM syndrome type 1	GPathogenic
Select item 2138742	NM_000133.4(F9):c.1067G>A (p.Trp356Ter)	F9 (W318* +1 more)	Single nucleotide variant (nonsense)	Thrombophilia, X-linked, due to factor 9 defect +1 more	GPathogenic
Select item 10495	NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)	IDS (W475* +1 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 9655	NC_012920.1(MT-CO3):m.9952G>A	MT-CO3	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic

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Items: 98