ClinVar for Gene (Select 4054) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	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 condition	GLikely pathogenic
Select item 3043750	NM_001130144.3(LTBP3):c.3911GACGCCGCC[1] (p.Ter1304=)	LTBP3	Microsatellite (no sequence alteration)	LTBP3-related condition	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 condition	GUncertain significance
Select item 3039692	NM_001130144.3(LTBP3):c.3760+7C>G	LTBP3	Single nucleotide variant (intron variant)	LTBP3-related condition	GLikely benign
Select item 3032620	NM_001130144.3(LTBP3):c.-6C>A	LTBP3	Single nucleotide variant (5 prime UTR variant)	LTBP3-related condition	GLikely benign
Select item 3029638	NM_001130144.3(LTBP3):c.2313C>T (p.Ala771=)	LOC130006029, LTBP3	Single nucleotide variant (synonymous variant)	LTBP3-related condition	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
Select item 3014393	NM_001130144.3(LTBP3):c.2164C>T (p.Pro722Ser)	LOC130006030, LTBP3 (P605S +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3014252	NM_001130144.3(LTBP3):c.3266C>T (p.Pro1089Leu)	LOC121832793, LTBP3 (P1089L)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GUncertain significance
Select item 3013640	NM_001130144.3(LTBP3):c.2762T>G (p.Leu921Arg)	LTBP3 (L921R +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3013021	NM_001130144.3(LTBP3):c.2001C>G (p.Pro667=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3012943	NM_001130144.3(LTBP3):c.1108T>G (p.Cys370Gly)	LTBP3 (C370G +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3012802	NM_001130144.3(LTBP3):c.1621+4A>C	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3012482	NM_001130144.3(LTBP3):c.44T>C (p.Met15Thr)	LTBP3 (M15T)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3011811	NM_001130144.3(LTBP3):c.825C>T (p.Pro275=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3011703	NM_001130144.3(LTBP3):c.3585C>T (p.Ser1195=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3010387	NM_001130144.3(LTBP3):c.2212G>T (p.Gly738Trp)	LOC130006030, LTBP3 (G738W +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3009702	NM_001130144.3(LTBP3):c.744G>A (p.Ser248=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3007268	NM_001130144.3(LTBP3):c.2597-5C>G	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3007220	NM_001130144.3(LTBP3):c.3373G>A (p.Glu1125Lys)	LOC130006027, LTBP3 (E1125K)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3007117	NM_001130144.3(LTBP3):c.2133C>T (p.Ser711=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3006085	NM_001130144.3(LTBP3):c.2477-11A>G	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3006065	NM_001130144.3(LTBP3):c.33G>C (p.Leu11=)	LTBP3	Single nucleotide variant (synonymous variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3005413	NM_001130144.3(LTBP3):c.3305G>C (p.Gly1102Ala)	LTBP3 (G1102A)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3005118	NM_001130144.3(LTBP3):c.3645G>A (p.Glu1215=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3004227	NM_001130144.3(LTBP3):c.1313_1314delinsTA (p.Ala438Val)	LTBP3 (A321V +1 more)	Indel (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3004138	NM_001130144.3(LTBP3):c.2108-6G>A	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3003470	NM_001130144.3(LTBP3):c.2477-17C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3003327	NM_001130144.3(LTBP3):c.2228G>T (p.Arg743Leu)	LOC130006030, LTBP3 (R626L +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3003247	NM_001130144.3(LTBP3):c.2991C>T (p.Cys997=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 3003222	NM_001130144.3(LTBP3):c.1102G>A (p.Gly368Ser)	LTBP3 (G251S +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3002695	NM_001130144.3(LTBP3):c.3344G>A (p.Gly1115Glu)	LOC130006027, LTBP3 (G1115E)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 3000365	NM_001130144.3(LTBP3):c.1345+7C>A	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2999337	NM_001130144.3(LTBP3):c.865-17C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2999132	NM_001130144.3(LTBP3):c.2339G>C (p.Gly780Ala)	LOC130006029, LTBP3 (G663A +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2998942	NM_001130144.3(LTBP3):c.1720+9C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2997841	NM_001130144.3(LTBP3):c.190G>A (p.Val64Met)	LTBP3 (V64M)	Single nucleotide variant (missense variant +1 more)	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 2997226	NM_001130144.3(LTBP3):c.2079C>T (p.Leu693=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2997191	NM_001130144.3(LTBP3):c.971-10C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign

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