ClinVar for Gene (Select 4054) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358503	NM_001130144.3(LTBP3):c.-8G>A	LTBP3	Single nucleotide variant (5 prime UTR variant)	LTBP3-related disorder	GLikely benign
Select item 3354306	NM_001130144.3(LTBP3):c.2976T>C (p.Arg992=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	LTBP3-related disorder	GLikely benign
Select item 3354282	NM_001130144.3(LTBP3):c.2188del (p.Cys730fs)	LOC130006030, LTBP3 (C613fs +1 more)	Deletion (frameshift variant)	LTBP3-related disorder	GLikely pathogenic
Select item 3347918	NM_001130144.3(LTBP3):c.2977G>A (p.Asp993Asn)	LOC121832793, LTBP3 (D876N +1 more)	Single nucleotide variant (missense variant)	LTBP3-related disorder	GUncertain significance
Select item 3344354	NM_001130144.3(LTBP3):c.863C>G (p.Pro288Arg)	LTBP3 (P171R +1 more)	Single nucleotide variant (missense variant)	LTBP3-related disorder	GUncertain significance
Select item 3337256	NM_001130144.3(LTBP3):c.1693dup (p.Val565fs)	LTBP3 (V448fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3292259	NM_001130144.3(LTBP3):c.3361T>C (p.Cys1121Arg)	LOC130006027, LTBP3 (C1121R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292258	NM_001130144.3(LTBP3):c.1571T>A (p.Val524Glu)	LTBP3 (V407E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3292256	NM_001130144.3(LTBP3):c.3301C>T (p.Pro1101Ser)	LTBP3 (P1101S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292255	NM_001130144.3(LTBP3):c.2269G>A (p.Gly757Ser)	LOC130006029, LTBP3 (G640S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292254	NM_001130144.3(LTBP3):c.2337C>G (p.Asp779Glu)	LOC130006029, LTBP3 (D662E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292253	NM_001130144.3(LTBP3):c.222C>G (p.Thr74=)	LTBP3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3292252	NM_001130144.3(LTBP3):c.2912G>A (p.Cys971Tyr)	LTBP3 (C854Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292251	NM_001130144.3(LTBP3):c.3419G>A (p.Ser1140Asn)	LTBP3 (S1140N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292250	NM_001130144.3(LTBP3):c.1386C>T (p.His462=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3292249	NM_001130144.3(LTBP3):c.310A>T (p.Thr104Ser)	LTBP3 (T104S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292248	NM_001130144.3(LTBP3):c.2956T>C (p.Tyr986His)	LOC121832793, LTBP3 (Y869H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3292246	NM_001130144.3(LTBP3):c.1461A>G (p.Pro487=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3292245	NM_001130144.3(LTBP3):c.3358G>A (p.Asp1120Asn)	LOC130006027, LTBP3 (D1120N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292244	NM_001130144.3(LTBP3):c.1807C>T (p.Pro603Ser)	LTBP3 (P486S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292243	NM_001130144.3(LTBP3):c.2605G>A (p.Glu869Lys)	LTBP3 (E752K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292242	NM_001130144.3(LTBP3):c.2252G>T (p.Gly751Val)	LOC130006029, LTBP3 (G634V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292241	NM_001130144.3(LTBP3):c.2581G>A (p.Gly861Ser)	LTBP3 (G744S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292240	NM_001130144.3(LTBP3):c.334G>A (p.Val112Met)	LTBP3 (V112M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3292238	NM_001130144.3(LTBP3):c.525G>C (p.Glu175Asp)	LTBP3 (E175D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292237	NM_001130144.3(LTBP3):c.604C>T (p.Pro202Ser)	LTBP3 (P85S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3244616	NC_000011.9:g.(?_65319447)_(65320635_?)del	LTBP3	Deletion	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3244615	NC_000011.9:g.(?_65320311)_(65325430_?)dup	LTBP3	Duplication	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3244614	NC_000011.9:g.(?_65318577)_(65321871_?)del	LTBP3	Deletion	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3233193	NM_001130144.3(LTBP3):c.994C>T (p.Pro332Ser)	LTBP3 (P215S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233192	NM_001130144.3(LTBP3):c.938A>G (p.Gln313Arg)	LTBP3 (Q196R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233191	NM_001130144.3(LTBP3):c.929C>G (p.Ala310Gly)	LTBP3 (A193G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233190	NM_001130144.3(LTBP3):c.852G>A (p.Leu284=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233189	NM_001130144.3(LTBP3):c.834C>A (p.Arg278=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233188	NM_001130144.3(LTBP3):c.806G>A (p.Arg269Gln)	LTBP3 (R152Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233187	NM_001130144.3(LTBP3):c.801C>A (p.His267Gln)	LTBP3 (H150Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233186	NM_001130144.3(LTBP3):c.757G>A (p.Ala253Thr)	LTBP3 (A136T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233185	NM_001130144.3(LTBP3):c.602C>T (p.Pro201Leu)	LTBP3 (P201L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233183	NM_001130144.3(LTBP3):c.505C>G (p.Leu169Val)	LTBP3 (L169V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3233181	NM_001130144.3(LTBP3):c.3846C>T (p.Cys1282=)	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 3233179	NM_001130144.3(LTBP3):c.3695C>T (p.Pro1232Leu)	LTBP3 (P1068L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233178	NM_001130144.3(LTBP3):c.3594C>T (p.Asp1198=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233177	NM_001130144.3(LTBP3):c.3563C>T (p.Thr1188Ile)	LTBP3 (T1024I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233176	NM_001130144.3(LTBP3):c.3563C>G (p.Thr1188Arg)	LTBP3 (T1024R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233175	NM_001130144.3(LTBP3):c.3423G>T (p.Gln1141His)	LTBP3 (Q1094H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233174	NM_001130144.3(LTBP3):c.3398A>C (p.Glu1133Ala)	LOC130006027, LTBP3 (E1086A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233173	NM_001130144.3(LTBP3):c.3384C>T (p.Ala1128=)	LOC130006027, LTBP3	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3233172	NM_001130144.3(LTBP3):c.3358G>T (p.Asp1120Tyr)	LOC130006027, LTBP3 (D1120Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3233171	NM_001130144.3(LTBP3):c.3321G>C (p.Glu1107Asp)	LTBP3 (E1107D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3233170	NM_001130144.3(LTBP3):c.3296A>G (p.Asn1099Ser)	LTBP3 (N1099S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3233169	NM_001130144.3(LTBP3):c.3226C>T (p.Leu1076=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233168	NM_001130144.3(LTBP3):c.3192C>G (p.Pro1064=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233167	NM_001130144.3(LTBP3):c.3094C>T (p.Leu1032=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233166	NM_001130144.3(LTBP3):c.3051C>T (p.Tyr1017=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233165	NM_001130144.3(LTBP3):c.2973C>G (p.His991Gln)	LOC121832793, LTBP3 (H874Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233164	NM_001130144.3(LTBP3):c.2936A>T (p.Gln979Leu)	LOC121832793, LTBP3 (Q862L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233163	NM_001130144.3(LTBP3):c.2877C>G (p.Cys959Trp)	LOC130006028, LTBP3 (C842W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233162	NM_001130144.3(LTBP3):c.2852G>A (p.Gly951Asp)	LOC130006028, LTBP3 (G834D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233161	NM_001130144.3(LTBP3):c.2775C>T (p.Asp925=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233159	NM_001130144.3(LTBP3):c.2643G>A (p.Gly881=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233158	NM_001130144.3(LTBP3):c.2480T>C (p.Ile827Thr)	LTBP3 (I710T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233157	NM_001130144.3(LTBP3):c.2457G>C (p.Arg819Ser)	LTBP3 (R702S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233156	NM_001130144.3(LTBP3):c.2315A>G (p.Gln772Arg)	LOC130006029, LTBP3 (Q655R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3233155	NM_001130144.3(LTBP3):c.2244C>T (p.Cys748=)	LOC130006029, LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233154	NM_001130144.3(LTBP3):c.2195C>G (p.Pro732Arg)	LOC130006030, LTBP3 (P615R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233153	NM_001130144.3(LTBP3):c.2061C>T (p.Cys687=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233152	NM_001130144.3(LTBP3):c.1843G>A (p.Val615Met)	LTBP3 (V498M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233151	NM_001130144.3(LTBP3):c.1783C>G (p.Pro595Ala)	LTBP3 (P478A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233150	NM_001130144.3(LTBP3):c.1779C>T (p.Gly593=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233149	NM_001130144.3(LTBP3):c.1776G>A (p.Pro592=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233148	NM_001130144.3(LTBP3):c.1686C>T (p.Arg562=)	LTBP3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3233147	NM_001130144.3(LTBP3):c.1431C>A (p.Asp477Glu)	LTBP3 (D360E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233146	NM_001130144.3(LTBP3):c.1294G>A (p.Val432Ile)	LTBP3 (V315I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233145	NM_001130144.3(LTBP3):c.126G>T (p.Glu42Asp)	LTBP3 (E42D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3121449	NM_001130144.3(LTBP3):c.905A>C (p.Asp302Ala)	LTBP3 (D185A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121448	NM_001130144.3(LTBP3):c.2771A>G (p.Asp924Gly)	LTBP3 (D924G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121447	NM_001130144.3(LTBP3):c.2675G>T (p.Cys892Phe)	LTBP3 (C892F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121446	NM_001130144.3(LTBP3):c.1835G>A (p.Arg612His)	LTBP3 (R495H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121445	NM_001130144.3(LTBP3):c.1652T>C (p.Met551Thr)	LTBP3 (M434T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121444	NM_001130144.3(LTBP3):c.1357G>A (p.Glu453Lys)	LTBP3 (E453K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3061366	NM_001130144.3(LTBP3):c.3393_3403dup (p.Arg1135fs)	LTBP3 (R1088fs +2 more)	Duplication (frameshift variant)	LTBP3-related disorder	GLikely pathogenic
Select item 3043750	NM_001130144.3(LTBP3):c.3911GACGCCGCC[1] (p.Ter1304=)	LTBP3	Microsatellite (no sequence alteration)	LTBP3-related disorder	GLikely benign
Select item 3041938	NM_001130144.3(LTBP3):c.1130A>G (p.Tyr377Cys)	LTBP3 (Y260C +1 more)	Single nucleotide variant (missense variant)	LTBP3-related disorder	GUncertain significance
Select item 3039692	NM_001130144.3(LTBP3):c.3760+7C>G	LTBP3	Single nucleotide variant (intron variant)	LTBP3-related disorder	GLikely benign
Select item 3032620	NM_001130144.3(LTBP3):c.-6C>A	LTBP3	Single nucleotide variant (5 prime UTR variant)	LTBP3-related disorder	GLikely benign
Select item 3029638	NM_001130144.3(LTBP3):c.2313C>T (p.Ala771=)	LOC130006029, LTBP3	Single nucleotide variant (synonymous variant)	LTBP3-related disorder	GLikely benign
Select item 3023513	NM_001130144.3(LTBP3):c.3280C>T (p.Pro1094Ser)	LTBP3 (P1094S)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
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 3019700	NM_001130144.3(LTBP3):c.1817G>A (p.Arg606Gln)	LTBP3 (R606Q +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3018063	NM_001130144.3(LTBP3):c.3376_3377del (p.Ser1126fs)	LOC130006027, LTBP3 (S1126fs)	Microsatellite (frameshift variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GPathogenic
Select item 3017931	NM_001130144.3(LTBP3):c.3006G>A (p.Ser1002=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3015923	NM_001130144.3(LTBP3):c.2514G>A (p.Gly838=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3014618	NM_001130144.3(LTBP3):c.1441T>C (p.Phe481Leu)	LTBP3 (F364L +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance

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