ClinVar for Gene (Select 9096) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364295	NM_001080508.3(TBX18):c.1774C>G (p.Leu592Val)	TBX18 (L592V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348438	NM_001080508.3(TBX18):c.498-1G>A	TBX18	Single nucleotide variant (splice acceptor variant)	TBX18-related disorder	GUncertain significance
Select item 3347085	NM_001080508.3(TBX18):c.288C>A (p.Ala96=)	TBX18	Single nucleotide variant (synonymous variant)	TBX18-related disorder	GLikely benign
Select item 3345677	NM_001080508.3(TBX18):c.1184G>A (p.Cys395Tyr)	TBX18 (C395Y)	Single nucleotide variant (missense variant)	TBX18-related disorder	GUncertain significance
Select item 3324848	NM_001080508.3(TBX18):c.881A>G (p.Lys294Arg)	TBX18 (K294R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324847	NM_001080508.3(TBX18):c.662G>T (p.Arg221Leu)	TBX18 (R221L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3324846	NM_001080508.3(TBX18):c.1396G>A (p.Val466Met)	TBX18 (V466M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246087	NC_000006.11:g.(?_85446403)_(85473899_?)dup	TBX18	Duplication	not provided	GUncertain significance
Select item 3174939	NM_001080508.3(TBX18):c.803C>T (p.Pro268Leu)	TBX18 (P268L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174938	NM_001080508.3(TBX18):c.499C>A (p.Arg167Ser)	TBX18 (R167S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174937	NM_001080508.3(TBX18):c.26C>G (p.Pro9Arg)	TBX18 (P9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174936	NM_001080508.3(TBX18):c.1817T>C (p.Met606Thr)	TBX18 (M606T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174935	NM_001080508.3(TBX18):c.125G>C (p.Gly42Ala)	TBX18 (G42A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3174933	NM_001080508.3(TBX18):c.1054C>G (p.Leu352Val)	TBX18 (L352V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068307	NM_001080508.3(TBX18):c.571A>G (p.Ile191Val)	TBX18 (I191V)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 2	GUncertain significance
Select item 3062915	GRCh37/hg19 6q14.3(chr6:85200683-85546042)x3	TBX18	Copy number gain	not specified	GUncertain significance
Select item 3061212	NM_001080508.3(TBX18):c.1008G>A (p.Met336Ile)	TBX18 (M336I)	Single nucleotide variant (missense variant)	TBX18-related disorder	GUncertain significance
Select item 3057498	NM_001080508.3(TBX18):c.1353G>A (p.Pro451=)	TBX18	Single nucleotide variant (synonymous variant)	TBX18-related disorder	GLikely benign
Select item 3052898	NM_001080508.3(TBX18):c.64G>A (p.Val22Met)	TBX18 (V22M)	Single nucleotide variant (missense variant)	TBX18-related disorder	GUncertain significance
Select item 3040490	NM_001080508.3(TBX18):c.-60C>A	TBX18	Single nucleotide variant (5 prime UTR variant)	TBX18-related disorder	GLikely benign
Select item 3030690	NM_001080508.3(TBX18):c.1377C>T (p.Gly459=)	TBX18	Single nucleotide variant (synonymous variant)	TBX18-related disorder	GLikely benign
Select item 3026043	NC_000006.12:g.84764703G>A	LOC121132696, TBX18	Single nucleotide variant	not provided	GLikely benign
Select item 3022467	NM_001080508.3(TBX18):c.438C>A (p.Ala146=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021224	NM_001080508.3(TBX18):c.1351C>T (p.Pro451Ser)	TBX18 (P451S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006882	NM_001080508.3(TBX18):c.1286G>A (p.Arg429Gln)	TBX18 (R429Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999742	NM_001080508.3(TBX18):c.1080C>T (p.Ile360=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998688	NM_001080508.3(TBX18):c.292+13C>T	TBX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987314	NM_001080508.3(TBX18):c.726C>T (p.Phe242=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976762	NM_001080508.3(TBX18):c.98A>G (p.Gln33Arg)	TBX18 (Q33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972340	NM_001080508.3(TBX18):c.1708C>T (p.Pro570Ser)	TBX18 (P570S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964334	NM_001080508.3(TBX18):c.515T>C (p.Met172Thr)	TBX18 (M172T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962253	NM_001080508.3(TBX18):c.1546G>A (p.Gly516Ser)	TBX18 (G516S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954819	NM_001080508.3(TBX18):c.1004+18C>T	TBX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954733	NM_001080508.3(TBX18):c.498-14G>A	TBX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915238	NM_001080508.3(TBX18):c.1395C>T (p.Ser465=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894708	NM_001080508.3(TBX18):c.1524C>T (p.Phe508=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893104	NM_001080508.3(TBX18):c.838G>A (p.Asp280Asn)	TBX18 (D280N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2886379	NM_001080508.3(TBX18):c.821G>T (p.Arg274Leu)	TBX18 (R274L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885475	NM_001080508.3(TBX18):c.1697G>A (p.Arg566Gln)	TBX18 (R566Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876330	NM_001080508.3(TBX18):c.1004+17_1004+26del	TBX18	Deletion (intron variant)	not provided	GLikely benign
Select item 2874288	NM_001080508.3(TBX18):c.1109G>C (p.Ser370Thr)	TBX18 (S370T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868910	NM_001080508.3(TBX18):c.1154CTCACC[1] (p.Pro387_His388del)	TBX18	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2844605	NM_001080508.3(TBX18):c.338C>T (p.Ser113Leu)	TBX18 (S113L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842119	NM_001080508.3(TBX18):c.1100-20del	TBX18	Deletion (intron variant)	not provided	GLikely benign
Select item 2803415	NM_001080508.3(TBX18):c.174C>T (p.Gly58=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793837	NM_001080508.3(TBX18):c.1030T>G (p.Ser344Ala)	TBX18 (S344A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788664	NM_001080508.3(TBX18):c.579A>T (p.Pro193=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786244	NM_001080508.3(TBX18):c.1019C>T (p.Ala340Val)	TBX18 (A340V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768143	NM_001080508.3(TBX18):c.498-3T>C	TBX18	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2758857	NM_001080508.3(TBX18):c.1099+20G>C	TBX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730131	NM_001080508.3(TBX18):c.772-4A>G	TBX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2723126	NM_001080508.3(TBX18):c.821G>A (p.Arg274His)	TBX18 (R274H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719817	NM_001080508.3(TBX18):c.1774C>T (p.Leu592=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719536	NM_001080508.3(TBX18):c.293-13C>A	TBX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715448	NM_001080508.3(TBX18):c.452G>T (p.Arg151Leu)	TBX18 (R151L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714459	NM_001080508.3(TBX18):c.814G>A (p.Val272Ile)	TBX18 (V272I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2711877	NM_001080508.3(TBX18):c.1378G>A (p.Val460Met)	TBX18 (V460M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682942	NM_001080508.3(TBX18):c.1144G>A (p.Val382Ile)	TBX18 (V382I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656732	NM_001080508.3(TBX18):c.1701G>C (p.Gln567His)	TBX18 (Q567H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656731	NC_000006.12:g.84667701T>C	TBX18	Single nucleotide variant	not provided	GLikely benign
Select item 2637085	NM_001080508.3(TBX18):c.1625C>T (p.Ala542Val)	TBX18 (A542V)	Single nucleotide variant (missense variant)	TBX18-related disorder	GUncertain significance
Select item 2636703	NM_001080508.3(TBX18):c.1364C>G (p.Pro455Arg)	TBX18 (P455R)	Single nucleotide variant (missense variant)	TBX18-related disorder	GUncertain significance
Select item 2609533	NM_001080508.3(TBX18):c.551A>G (p.Gln184Arg)	TBX18 (Q184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601938	NM_001080508.3(TBX18):c.1610C>G (p.Ser537Cys)	TBX18 (S537C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579547	NM_001080508.3(TBX18):c.350C>A (p.Ser117Tyr)	TBX18 (S117Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2526010	NM_001080508.3(TBX18):c.1556A>G (p.Asn519Ser)	TBX18 (N519S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514089	NM_001080508.3(TBX18):c.217G>C (p.Ala73Pro)	TBX18 (A73P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 2486448	NM_001080508.3(TBX18):c.88A>G (p.Lys30Glu)	TBX18 (K30E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459942	NM_001080508.3(TBX18):c.1739G>C (p.Ser580Thr)	TBX18 (S580T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441800	NM_001080508.3(TBX18):c.1045C>T (p.Arg349Ter)	TBX18 (R349*)	Single nucleotide variant (nonsense)	Congenital anomalies of kidney and urinary tract 2	GPathogenic
Select item 2436987	NM_001080508.3(TBX18):c.14G>A (p.Arg5Gln)	TBX18 (R5Q)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 2	GUncertain significance
Select item 2429545	NM_001080508.3(TBX18):c.788T>C (p.Met263Thr)	TBX18 (M263T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427237	NC_000006.11:g.(?_84765038)_(86267798_?)del	CEP162, MRAP2 +3 more	Deletion	not provided	GUncertain significance
Select item 2393434	NM_001080508.3(TBX18):c.1243G>A (p.Ala415Thr)	TBX18 (A415T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2364752	NM_001080508.3(TBX18):c.1526C>T (p.Ala509Val)	TBX18 (A509V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338617	NM_001080508.3(TBX18):c.217G>A (p.Ala73Thr)	TBX18 (A73T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2335626	NM_001080508.3(TBX18):c.1816A>G (p.Met606Val)	TBX18 (M606V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324900	NM_001080508.3(TBX18):c.1208G>C (p.Gly403Ala)	TBX18 (G403A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282744	NM_001080508.3(TBX18):c.1150G>T (p.Ala384Ser)	TBX18 (A384S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2276652	NM_001080508.3(TBX18):c.122T>C (p.Leu41Pro)	TBX18 (L41P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229876	NM_001080508.3(TBX18):c.467G>T (p.Gly156Val)	TBX18 (G156V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192026	NM_001080508.3(TBX18):c.1578C>A (p.Pro526=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183211	NM_001080508.3(TBX18):c.205G>A (p.Gly69Arg)	TBX18 (G69R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177028	NM_001080508.3(TBX18):c.392C>T (p.Thr131Ile)	TBX18 (T131I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172571	NM_001080508.3(TBX18):c.1143C>T (p.Gly381=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168730	NM_001080508.3(TBX18):c.1046G>A (p.Arg349Gln)	TBX18 (R349Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2154059	NM_001080508.3(TBX18):c.993C>T (p.Ser331=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145547	NM_001080508.3(TBX18):c.1741G>T (p.Gly581Trp)	TBX18 (G581W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103228	NM_001080508.3(TBX18):c.368C>A (p.Ala123Glu)	TBX18 (A123E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086753	NM_001080508.3(TBX18):c.500G>A (p.Arg167His)	TBX18 (R167H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085356	NM_001080508.3(TBX18):c.1813C>T (p.His605Tyr)	TBX18 (H605Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076749	NM_001080508.3(TBX18):c.939+4T>C	TBX18	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2064043	NM_001080508.3(TBX18):c.1558A>G (p.Thr520Ala)	TBX18 (T520A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2060483	NM_001080508.3(TBX18):c.1103A>G (p.Asn368Ser)	TBX18 (N368S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055466	NM_001080508.3(TBX18):c.836A>G (p.Asp279Gly)	TBX18 (D279G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054198	NM_001080508.3(TBX18):c.178G>A (p.Gly60Ser)	TBX18 (G60S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2053466	NM_001080508.3(TBX18):c.348C>A (p.Gly116=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052428	NM_001080508.3(TBX18):c.1390A>C (p.Thr464Pro)	TBX18 (T464P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051316	NM_001080508.3(TBX18):c.1593A>T (p.Gly531=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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