11595[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 168

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	LOC129996748, LOC129996749 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	LOC121740658, LOC123775380 +247 more	Copy number loss	See cases	GPathogenic
Select item 58829	GRCh38/hg38 6q14.3(chr6:84511090-85008210)x1	LOC121132696, LOC129996771 +2 more	Copy number loss	See cases	GUncertain significance
Select item 2656731	NC_000006.12:g.84667701T>C	TBX18	Single nucleotide variant	not provided	GLikely benign
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 2335626	NM_001080508.3(TBX18):c.1816A>G (p.Met606Val)	TBX18 (M606V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1344613	NM_001080508.3(TBX18):c.1802A>G (p.Gln601Arg)	TBX18 (Q601R)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 2719817	NM_001080508.3(TBX18):c.1774C>T (p.Leu592=)	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 2459942	NM_001080508.3(TBX18):c.1739G>C (p.Ser580Thr)	TBX18 (S580T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2656732	NM_001080508.3(TBX18):c.1701G>C (p.Gln567His)	TBX18 (Q567H)	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 728287	NM_001080508.3(TBX18):c.1677G>A (p.Pro559=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435081	NM_001080508.3(TBX18):c.1661T>C (p.Phe554Ser)	TBX18 (F554S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2601938	NM_001080508.3(TBX18):c.1610C>G (p.Ser537Cys)	TBX18 (S537C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2051316	NM_001080508.3(TBX18):c.1593A>T (p.Gly531=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192026	NM_001080508.3(TBX18):c.1578C>A (p.Pro526=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208528	NM_001080508.3(TBX18):c.1570C>T (p.His524Tyr)	TBX18 (H524Y)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 2	GPathogenic
Select item 2064043	NM_001080508.3(TBX18):c.1558A>G (p.Thr520Ala)	TBX18 (T520A)	Single nucleotide variant (missense variant)	not provided +1 more	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 2962253	NM_001080508.3(TBX18):c.1546G>A (p.Gly516Ser)	TBX18 (G516S)	Single nucleotide variant (missense variant)	not provided	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 2894708	NM_001080508.3(TBX18):c.1524C>T (p.Phe508=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427122	NM_001080508.3(TBX18):c.1483C>A (p.Gln495Lys)	TBX18 (Q495K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744992	NM_001080508.3(TBX18):c.1479C>T (p.Ser493=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 503861	NM_001080508.3(TBX18):c.1477del (p.Ser493fs)	TBX18 (S493fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 724063	NM_001080508.3(TBX18):c.1470G>A (p.Ser490=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2915238	NM_001080508.3(TBX18):c.1395C>T (p.Ser465=)	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)	TBX18-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1448017	NM_001080508.3(TBX18):c.1387A>G (p.Ser463Gly)	TBX18 (S463G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3030690	NM_001080508.3(TBX18):c.1377C>T (p.Gly459=)	TBX18	Single nucleotide variant (synonymous variant)	TBX18-related disorder	GLikely benign
Select item 734823	NM_001080508.3(TBX18):c.1368C>T (p.Ser456=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3057498	NM_001080508.3(TBX18):c.1353G>A (p.Pro451=)	TBX18	Single nucleotide variant (synonymous variant)	TBX18-related disorder	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 1690464	NM_001080508.3(TBX18):c.1319G>C (p.Arg440Thr)	TBX18 (R440T)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 747936	NM_001080508.3(TBX18):c.1308G>A (p.Glu436=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678408	NM_001080508.3(TBX18):c.1289A>G (p.Tyr430Cys)	TBX18 (Y430C)	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 280531	NM_001080508.3(TBX18):c.1285C>T (p.Arg429Ter)	TBX18 (R429*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 730682	NM_001080508.3(TBX18):c.1265G>A (p.Arg422His)	TBX18 (R422H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2324900	NM_001080508.3(TBX18):c.1208G>C (p.Gly403Ala)	TBX18 (G403A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1928628	NM_001080508.3(TBX18):c.1202A>G (p.His401Arg)	TBX18 (H401R)	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 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 2682942	NM_001080508.3(TBX18):c.1144G>A (p.Val382Ile)	TBX18 (V382I)	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 730862	NM_001080508.3(TBX18):c.1118C>T (p.Thr373Ile)	TBX18 (T373I)	Single nucleotide variant (missense 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 2060483	NM_001080508.3(TBX18):c.1103A>G (p.Asn368Ser)	TBX18 (N368S)	Single nucleotide variant (missense variant)	TBX18-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 712637	NM_001080508.3(TBX18):c.1102A>C (p.Asn368His)	TBX18 (N368H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2842119	NM_001080508.3(TBX18):c.1100-20del	TBX18	Deletion (intron variant)	not provided	GLikely benign
Select item 1220923	NM_001080508.3(TBX18):c.1099+112G>A	TBX18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2758857	NM_001080508.3(TBX18):c.1099+20G>C	TBX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999742	NM_001080508.3(TBX18):c.1080C>T (p.Ile360=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2793837	NM_001080508.3(TBX18):c.1030T>G (p.Ser344Ala)	TBX18 (S344A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 208527	NM_001080508.3(TBX18):c.1010del (p.Gly337fs)	TBX18 (G337fs)	Deletion (frameshift variant)	Congenital anomaly of kidney and urinary tract +1 more	GPathogenic/Likely pathogenic
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 1229931	NM_001080508.3(TBX18):c.1005-256T>C	TBX18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246059	NM_001080508.3(TBX18):c.1004+214C>G	TBX18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277344	NM_001080508.3(TBX18):c.1004+197G>A	TBX18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245298	NM_001080508.3(TBX18):c.1004+75dup	TBX18	Duplication (intron variant)	not provided	GBenign
Select item 2876330	NM_001080508.3(TBX18):c.1004+17_1004+26del	TBX18	Deletion (intron variant)	not provided	GLikely benign
Select item 2954819	NM_001080508.3(TBX18):c.1004+18C>T	TBX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2004594	NM_001080508.3(TBX18):c.1004+12T>C	TBX18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2154059	NM_001080508.3(TBX18):c.993C>T (p.Ser331=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426233	NM_001080508.3(TBX18):c.947G>A (p.Arg316His)	TBX18 (R316H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287801	NM_001080508.3(TBX18):c.940-228G>C	TBX18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221604	NM_001080508.3(TBX18):c.939+256_939+257insATG	TBX18	Insertion (intron variant)	not provided	GBenign
Select item 2076749	NM_001080508.3(TBX18):c.939+4T>C	TBX18	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 711945	NM_001080508.3(TBX18):c.868G>A (p.Gly290Arg)	TBX18 (G290R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 2055466	NM_001080508.3(TBX18):c.836A>G (p.Asp279Gly)	TBX18 (D279G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2723126	NM_001080508.3(TBX18):c.821G>A (p.Arg274His)	TBX18 (R274H)	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)	TBX18-related disorder +1 more	GLikely benign
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 2429545	NM_001080508.3(TBX18):c.788T>C (p.Met263Thr)	TBX18 (M263T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730131	NM_001080508.3(TBX18):c.772-4A>G	TBX18	Single nucleotide variant (intron variant)	TBX18-related disorder +1 more	GLikely benign
Select item 1178491	NM_001080508.3(TBX18):c.771+130T>G	TBX18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 764875	NM_001080508.3(TBX18):c.750T>C (p.Asn250=)	TBX18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1991068	NM_001080508.3(TBX18):c.738G>A (p.Lys246=)	TBX18	Single nucleotide variant (synonymous 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 1988828	NM_001080508.3(TBX18):c.726C>G (p.Phe242Leu)	TBX18 (F242L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1177415	NM_001080508.3(TBX18):c.692_693insT (p.Glu233fs)	TBX18 (E233fs)	Insertion (frameshift variant)	Congenital anomalies of kidney and urinary tract 2	GPathogenic
Select item 1704362	NM_001080508.3(TBX18):c.662G>A (p.Arg221His)	TBX18 (R221H)	Single nucleotide variant (missense variant)	Congenital anomalies of kidney and urinary tract 2	GUncertain significance
Select item 1395553	NM_001080508.3(TBX18):c.658C>A (p.Pro220Thr)	TBX18 (P220T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1800817	NM_001080508.3(TBX18):c.637A>C (p.Asn213His)	TBX18 (N213H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556093	NM_001080508.3(TBX18):c.600-20G>C	TBX18	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 2