ClinVar for MedGen (Select 318659) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Inborn genetic diseases +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 +1 more	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
Select item 2995277	NM_001130144.3(LTBP3):c.4C>T (p.Pro2Ser)	LTBP3 (P2S)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2995002	NM_001130144.3(LTBP3):c.2266C>T (p.Pro756Ser)	LOC130006029, LTBP3 (P756S +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2994540	NM_001130144.3(LTBP3):c.2342G>A (p.Arg781His)	LOC130006029, LTBP3 (R781H +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	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 2993997	NM_001130144.3(LTBP3):c.3159del (p.Asn1053fs)	LOC121832793, LTBP3 (N936fs +1 more)	Deletion (frameshift variant)	Brachyolmia-amelogenesis imperfecta syndrome	GPathogenic
Select item 2993957	NM_001130144.3(LTBP3):c.3386-15A>G	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2993144	NM_001130144.3(LTBP3):c.2809G>T (p.Val937Leu)	LTBP3 (V820L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2992736	NM_001130144.3(LTBP3):c.2748G>A (p.Lys916=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
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 2991229	NM_001130144.3(LTBP3):c.616G>A (p.Ala206Thr)	LTBP3 (A89T +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2990731	NM_001130144.3(LTBP3):c.2473G>C (p.Glu825Gln)	LTBP3 (E708Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2989801	NM_001130144.3(LTBP3):c.3684C>T (p.Cys1228=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	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 2987207	NM_001130144.3(LTBP3):c.3386-12T>C	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2986680	NM_001130144.3(LTBP3):c.2726-14C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2984909	NM_001130144.3(LTBP3):c.1419G>A (p.Gln473=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2982554	NM_001130144.3(LTBP3):c.2090G>A (p.Arg697Gln)	LTBP3 (R697Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2980026	NM_001130144.3(LTBP3):c.2894-6C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
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 2977137	NM_001130144.3(LTBP3):c.15A>G (p.Arg5=)	LTBP3	Single nucleotide variant (synonymous variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2976802	NM_001130144.3(LTBP3):c.1924C>G (p.His642Asp)	LOC130006032, LTBP3 (H642D +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2975992	NM_001130144.3(LTBP3):c.1345+17C>G	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2971665	NM_001130144.3(LTBP3):c.2417C>T (p.Ser806Phe)	LTBP3 (S689F +1 more)	Single nucleotide variant (missense variant)	Geleophysic dysplasia +1 more	GUncertain significance
Select item 2971620	NM_001130144.3(LTBP3):c.3565T>G (p.Ser1189Ala)	LTBP3 (S1189A +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2970002	NM_001130144.3(LTBP3):c.3084C>T (p.Asp1028=)	LTBP3, LOC121832793	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2969849	NM_001130144.3(LTBP3):c.2549G>A (p.Cys850Tyr)	LTBP3 (C850Y +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2969269	NM_001130144.3(LTBP3):c.750C>G (p.Ala250=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2967087	NM_001130144.3(LTBP3):c.1999C>A (p.Pro667Thr)	LTBP3 (P667T +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2966282	NM_001130144.3(LTBP3):c.2108-8C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2964303	NM_001130144.3(LTBP3):c.3106+17G>A	LOC121832793, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2960450	NM_001130144.3(LTBP3):c.3414C>T (p.Cys1138=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2960025	NM_001130144.3(LTBP3):c.812C>T (p.Pro271Leu)	LTBP3 (P271L +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2958295	NM_001130144.3(LTBP3):c.2259C>T (p.Pro753=)	LOC130006029, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2957656	NM_001130144.3(LTBP3):c.331+13G>A	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2957239	NM_001130144.3(LTBP3):c.3578G>A (p.Ser1193Asn)	LTBP3 (S1146N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2955226	NM_001130144.3(LTBP3):c.2209del (p.Gln737fs)	LOC130006030, LTBP3 (Q620fs +1 more)	Deletion (frameshift variant)	Brachyolmia-amelogenesis imperfecta syndrome	GPathogenic
Select item 2918676	NM_001130144.3(LTBP3):c.1662C>A (p.Phe554Leu)	LTBP3 (F437L +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2918514	NM_001130144.3(LTBP3):c.1549-16C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2918049	NM_001130144.3(LTBP3):c.1936G>C (p.Gly646Arg)	LOC130006032, LTBP3 (G529R +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2917903	NM_001130144.3(LTBP3):c.3242T>G (p.Met1081Arg)	LOC121832793, LTBP3 (M964R +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2917577	NM_001130144.3(LTBP3):c.865-15C>T	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2917371	NM_001130144.3(LTBP3):c.2462G>A (p.Arg821Gln)	LTBP3 (R704Q +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2916119	NM_001130144.3(LTBP3):c.3386-5C>T	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2916098	NM_001130144.3(LTBP3):c.2917G>A (p.Asp973Asn)	LTBP3 (D973N +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2910869	NM_001130144.3(LTBP3):c.1846+20C>A	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2909359	NM_001130144.3(LTBP3):c.2471G>A (p.Cys824Tyr)	LTBP3 (C824Y +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2908631	NM_001130144.3(LTBP3):c.3561G>A (p.Pro1187=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2908627	NM_001130144.3(LTBP3):c.1422C>T (p.Gly474=)	LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2906796	NM_001130144.3(LTBP3):c.3166G>A (p.Gly1056Ser)	LOC121832793, LTBP3 (G1056S +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2906187	NM_001130144.3(LTBP3):c.3602C>T (p.Pro1201Leu)	LTBP3 (P1037L +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2905845	NM_001130144.3(LTBP3):c.529G>A (p.Asp177Asn)	LTBP3 (D177N +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2904259	NM_001130144.3(LTBP3):c.2337C>T (p.Asp779=)	LOC130006029, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2903395	NM_001130144.3(LTBP3):c.1498G>T (p.Ala500Ser)	LTBP3 (A500S +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
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 2901999	NM_001130144.3(LTBP3):c.1979-14T>C	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2901394	NM_001130144.3(LTBP3):c.971-13C>G	LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign

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