4054[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152827	GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	LOC130006016, LOC130006017 +80 more	Copy number gain	See cases	GUncertain significance
Select item 152640	GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3	EHBP1L1, FAM89B +45 more	Copy number gain	See cases	GUncertain significance
Select item 1241986	NM_001130144.3(LTBP3):c.*195C>T	LTBP3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3043750	NM_001130144.3(LTBP3):c.3911GACGCCGCC[1] (p.Ter1304=)	LTBP3	Microsatellite (no sequence alteration)	LTBP3-related disorder	GLikely benign
Select item 422699	NM_001130144.3(LTBP3):c.3910_*6del (p.Ter1304del)	LTBP3 (:1140del +2 more)	Deletion (stop lost +1 more)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GConflicting classifications of pathogenicity
Select item 448912	NM_001130144.3(LTBP3):c.3912A>T (p.Ter1304Cys)	LTBP3	Single nucleotide variant (stop lost)	Geleophysic dysplasia 3	GPathogenic
Select item 1393598	NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup)	LTBP3	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2433537	NM_001130144.3(LTBP3):c.3908G>A (p.Arg1303His)	LTBP3 (R1139H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2062241	NM_001130144.3(LTBP3):c.3878_3907dup (p.Arg1302_Arg1303insProHisGlyAlaCysValProGlnArgArg)	LTBP3	Duplication (inframe_insertion)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1736066	NM_001130144.3(LTBP3):c.3907C>A (p.Arg1303Ser)	LTBP3 (R1256S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1224428	NM_001130144.3(LTBP3):c.3907C>T (p.Arg1303Cys)	LTBP3 (R1139C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787476	NM_001130144.3(LTBP3):c.3906C>T (p.Arg1302=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1973170	NM_001130144.3(LTBP3):c.3905G>A (p.Arg1302His)	LTBP3 (R1255H +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome +2 more	GUncertain significance
Select item 1717460	NM_001130144.3(LTBP3):c.3905G>T (p.Arg1302Leu)	LTBP3 (R1138L +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1736042	NM_001130144.3(LTBP3):c.3903C>G (p.Arg1301=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3233182	NM_001130144.3(LTBP3):c.3902G>A (p.Arg1301His)	LTBP3 (R1137H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182360	NM_001130144.3(LTBP3):c.3900G>C (p.Gln1300His)	LTBP3 (Q1136H +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GUncertain significance
Select item 1735947	NM_001130144.3(LTBP3):c.3897C>T (p.Pro1299=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1735941	NM_001130144.3(LTBP3):c.3896C>T (p.Pro1299Leu)	LTBP3 (P1299L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2447597	NM_001130144.3(LTBP3):c.3887C>T (p.Ala1296Val)	LTBP3 (A1249V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2994067	NM_001130144.3(LTBP3):c.3886G>A (p.Ala1296Thr)	LTBP3 (A1132T +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2997691	NM_001130144.3(LTBP3):c.3883G>C (p.Gly1295Arg)	LTBP3 (G1131R +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1735820	NM_001130144.3(LTBP3):c.3882C>T (p.His1294=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1735813	NM_001130144.3(LTBP3):c.3880C>A (p.His1294Asn)	LTBP3 (H1247N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2978661	NM_001130144.3(LTBP3):c.3878C>T (p.Pro1293Leu)	LTBP3 (P1293L +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1427542	NM_001130144.3(LTBP3):c.3875G>A (p.Arg1292His)	LTBP3 (R1245H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2062501	NM_001130144.3(LTBP3):c.3870C>T (p.Arg1290=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1735643	NM_001130144.3(LTBP3):c.3866C>T (p.Ala1289Val)	LTBP3 (A1289V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3292257	NM_001130144.3(LTBP3):c.3865G>T (p.Ala1289Ser)	LTBP3 (A1242S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2447584	NM_001130144.3(LTBP3):c.3865G>A (p.Ala1289Thr)	LTBP3 (A1289T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2717165	NM_001130144.3(LTBP3):c.3862T>C (p.Phe1288Leu)	LTBP3 (F1124L +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2992243	NM_001130144.3(LTBP3):c.3861C>T (p.Gly1287=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 863618	NM_001130144.3(LTBP3):c.3859G>A (p.Gly1287Ser)	LTBP3, SCYL1 (G1123S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1614101	NM_001130144.3(LTBP3):c.3858C>T (p.Ala1286=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GLikely benign
Select item 2105581	NM_001130144.3(LTBP3):c.3857C>T (p.Ala1286Val)	LTBP3 (A1239V +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1735485	NM_001130144.3(LTBP3):c.3849C>T (p.Val1283=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233181	NM_001130144.3(LTBP3):c.3846C>T (p.Cys1282=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2989223	NM_001130144.3(LTBP3):c.3842G>T (p.Arg1281Leu)	LTBP3 (R1281L +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1393990	NM_001130144.3(LTBP3):c.3841C>G (p.Arg1281Gly)	LTBP3 (R1281G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3292236	NM_001130144.3(LTBP3):c.3840C>A (p.Phe1280Leu)	LTBP3 (F1116L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1940858	NM_001130144.3(LTBP3):c.3839_3840delinsAA (p.Phe1280Ter)	LTBP3 (F1280* +2 more)	Indel (nonsense)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3292235	NM_001130144.3(LTBP3):c.3839T>A (p.Phe1280Tyr)	LTBP3 (F1116Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2955678	NM_001130144.3(LTBP3):c.3836C>T (p.Ser1279Phe)	LTBP3 (S1279F +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1574171	NM_001130144.3(LTBP3):c.3834C>T (p.Gly1278=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1735362	NM_001130144.3(LTBP3):c.3832G>A (p.Gly1278Ser)	LTBP3 (G1231S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1735291	NM_001130144.3(LTBP3):c.3825C>T (p.Asn1275=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1979706	NM_001130144.3(LTBP3):c.3824A>G (p.Asn1275Ser)	LTBP3 (N1275S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2143950	NM_001130144.3(LTBP3):c.3820G>A (p.Val1274Met)	LTBP3 (V1274M +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GUncertain significance
Select item 1555484	NM_001130144.3(LTBP3):c.3816C>T (p.Arg1272=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2120612	NM_001130144.3(LTBP3):c.3779_3813dup (p.Arg1272delinsSerTer)	LTBP3	Duplication (nonsense)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1735181	NM_001130144.3(LTBP3):c.3813G>A (p.Glu1271=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GLikely benign
Select item 2152505	NM_001130144.3(LTBP3):c.3810C>T (p.Ser1270=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2744965	NM_001130144.3(LTBP3):c.3801G>C (p.Leu1267=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2447588	NM_001130144.3(LTBP3):c.3799C>T (p.Leu1267=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3292247	NM_001130144.3(LTBP3):c.3796C>A (p.Leu1266Met)	LTBP3 (L1102M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2051236	NM_001130144.3(LTBP3):c.3796C>T (p.Leu1266=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1717074	NM_001130144.3(LTBP3):c.3793G>C (p.Gly1265Arg)	LTBP3 (G1101R +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1639066	NM_001130144.3(LTBP3):c.3792C>T (p.Arg1264=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1734898	NM_001130144.3(LTBP3):c.3788A>C (p.Gln1263Pro)	LTBP3 (Q1216P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2742463	NM_001130144.3(LTBP3):c.3786C>G (p.Asn1262Lys)	LTBP3 (N1098K +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1734885	NM_001130144.3(LTBP3):c.3786C>T (p.Asn1262=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233180	NM_001130144.3(LTBP3):c.3782T>C (p.Leu1261Pro)	LTBP3 (L1097P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1734798	NM_001130144.3(LTBP3):c.3776G>A (p.Arg1259Gln)	LTBP3 (R1212Q +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GUncertain significance
Select item 1734790	NM_001130144.3(LTBP3):c.3775C>A (p.Arg1259=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 771072	NM_001130144.3(LTBP3):c.3774C>T (p.Cys1258=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3022037	NM_001130144.3(LTBP3):c.3771G>C (p.Glu1257Asp)	LTBP3 (E1210D +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1928513	NM_001130144.3(LTBP3):c.3765CGA[1] (p.Asp1256del)	LTBP3 (D1092del +2 more)	Microsatellite (inframe_deletion)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2140058	NM_001130144.3(LTBP3):c.3769G>T (p.Glu1257Ter)	LTBP3 (E1093* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1640889	NM_001130144.3(LTBP3):c.3768C>T (p.Asp1256=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1734709	NM_001130144.3(LTBP3):c.3765C>T (p.Ile1255=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2751757	NM_001130144.3(LTBP3):c.3764T>C (p.Ile1255Thr)	LTBP3 (I1091T +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1879203	NM_001130144.3(LTBP3):c.3761-2A>G	LTBP3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 2885547	NM_001130144.3(LTBP3):c.3761-8dup	LTBP3	Duplication (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2885053	NM_001130144.3(LTBP3):c.3761-9C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2902687	NM_001130144.3(LTBP3):c.3761-12C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1947594	NM_001130144.3(LTBP3):c.3761-13C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1604922	NM_001130144.3(LTBP3):c.3761-14G>A	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1599609	NM_001130144.3(LTBP3):c.3761-15C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GBenign
Select item 1534573	NM_001130144.3(LTBP3):c.3761-15C>G	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1588021	NM_001130144.3(LTBP3):c.3761-19C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2882781	NM_001130144.3(LTBP3):c.3760+19G>A	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1558250	NM_001130144.3(LTBP3):c.3760+16G>A	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2723070	NM_001130144.3(LTBP3):c.3760+14C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1670740	NM_001130144.3(LTBP3):c.3760+12T>C	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2141865	NM_001130144.3(LTBP3):c.3760+10G>A	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 1674986	NM_001130144.3(LTBP3):c.3760+9G>C	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2718257	NM_001130144.3(LTBP3):c.3760+8G>A	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3039692	NM_001130144.3(LTBP3):c.3760+7C>G	LTBP3	Single nucleotide variant (intron variant)	LTBP3-related disorder	GLikely benign
Select item 2901380	NM_001130144.3(LTBP3):c.3757G>A (p.Val1253Met)	LTBP3 (V1206M +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2415484	NM_001130144.3(LTBP3):c.3756C>T (p.Cys1252=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2159502	NM_001130144.3(LTBP3):c.3749C>T (p.Ala1250Val)	LTBP3 (A1203V +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2447602	NM_001130144.3(LTBP3):c.3748G>C (p.Ala1250Pro)	LTBP3 (A1203P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1734515	NM_001130144.3(LTBP3):c.3747C>T (p.Arg1249=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1998599	NM_001130144.3(LTBP3):c.3744_3745inv (p.Arg1249Gly)	LTBP3 (R1085G +2 more)	Inversion (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 1536362	NM_001130144.3(LTBP3):c.3741C>T (p.Ala1247=)	LTBP3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2619277	NM_001130144.3(LTBP3):c.3739G>A (p.Ala1247Thr)	LTBP3 (A1247T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340226	NM_001130144.3(LTBP3):c.3736G>A (p.Asp1246Asn)	LTBP3 (D1199N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1734415	NM_001130144.3(LTBP3):c.3735C>T (p.Leu1245=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GLikely benign
Select item 1586614	NM_001130144.3(LTBP3):c.3723C>T (p.Gly1241=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GLikely benign
Select item 2854657	NM_001130144.3(LTBP3):c.3722G>C (p.Gly1241Ala)	LTBP3 (G1194A +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance

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