Related gene-specific medical variations for Gene (Select 4054) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 3029638	NM_001130144.3(LTBP3):c.2313C>T (p.Ala771=)	LOC130006029, LTBP3	Single nucleotide variant (synonymous variant)	LTBP3-related disorder	GLikely benign
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 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 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 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 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 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 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 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 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 2987207	NM_001130144.3(LTBP3):c.3386-12T>C	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	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 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 2964303	NM_001130144.3(LTBP3):c.3106+17G>A	LOC121832793, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
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 2955226	NM_001130144.3(LTBP3):c.2209del (p.Gln737fs)	LOC130006030, LTBP3 (Q620fs +1 more)	Deletion (frameshift variant)	Brachyolmia-amelogenesis imperfecta syndrome	GPathogenic
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 2916119	NM_001130144.3(LTBP3):c.3386-5C>T	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
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 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 2899473	NM_001130144.3(LTBP3):c.3386-4G>T	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2896036	NM_001130144.3(LTBP3):c.3087G>A (p.Gly1029=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2894173	NM_001130144.3(LTBP3):c.3106+16dup	LOC121832793, LTBP3	Duplication (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GBenign
Select item 2890797	NM_001130144.3(LTBP3):c.2847C>T (p.Gly949=)	LOC130006028, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2886319	NM_001130144.3(LTBP3):c.3385G>A (p.Glu1129Lys)	LOC130006027, LTBP3 (E1129K)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2886031	NM_001130144.3(LTBP3):c.3039G>A (p.Thr1013=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2879541	NM_001130144.3(LTBP3):c.2231-6C>T	LOC130006029, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2879219	NM_001130144.3(LTBP3):c.1941C>T (p.Tyr647=)	LOC130006032, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2877199	NM_001130144.3(LTBP3):c.2339G>T (p.Gly780Val)	LOC130006029, LTBP3 (G663V +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2871653	NM_001130144.3(LTBP3):c.3107-6C>T	LOC121832793, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2869542	NM_001130144.3(LTBP3):c.2325G>T (p.Ala775=)	LOC130006029, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2867221	NM_001130144.3(LTBP3):c.2345G>A (p.Ser782Asn)	LOC130006029, LTBP3 (S782N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2859291	NM_001130144.3(LTBP3):c.2979C>A (p.Asp993Glu)	LOC121832793, LTBP3 (D876E +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2853838	NM_001130144.3(LTBP3):c.3367C>T (p.Leu1123Phe)	LOC130006027, LTBP3 (L1123F)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2849956	NM_001130144.3(LTBP3):c.2328del (p.Ala777fs)	LOC130006029, LTBP3 (A660fs +1 more)	Deletion (frameshift variant)	Brachyolmia-amelogenesis imperfecta syndrome	GPathogenic
Select item 2847925	NM_001130144.3(LTBP3):c.3085G>A (p.Gly1029Arg)	LOC121832793, LTBP3 (G1029R +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2847485	NM_001130144.3(LTBP3):c.1965dup (p.Arg656fs)	LOC130006032, LTBP3 (R539fs +1 more)	Duplication (frameshift variant)	Brachyolmia-amelogenesis imperfecta syndrome	GPathogenic
Select item 2841847	NM_001130144.3(LTBP3):c.2974C>A (p.Arg992Ser)	LOC121832793, LTBP3 (R875S +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2830179	NM_001130144.3(LTBP3):c.2973_2974del (p.His991fs)	LOC121832793, LTBP3 (H874fs +1 more)	Deletion (frameshift variant)	Brachyolmia-amelogenesis imperfecta syndrome	GPathogenic
Select item 2824078	NM_001130144.3(LTBP3):c.2322C>T (p.Tyr774=)	LOC130006029, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2822515	NM_001130144.3(LTBP3):c.3383C>T (p.Ala1128Val)	LOC130006027, LTBP3 (A1128V)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2820241	NM_001130144.3(LTBP3):c.2155G>A (p.Glu719Lys)	LOC130006030, LTBP3 (E602K +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2813940	NM_001130144.3(LTBP3):c.3003G>A (p.Gly1001=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2812301	NM_001130144.3(LTBP3):c.3106+4A>G	LOC121832793, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2810722	NM_001130144.3(LTBP3):c.3107-15T>C	LOC121832793, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2807974	NM_001130144.3(LTBP3):c.3244+9C>G	LOC121832793, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2806309	NM_001130144.3(LTBP3):c.3107-10C>T	LOC121832793, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2806011	NM_001130144.3(LTBP3):c.2978-16_2995dup	LOC121832793, LTBP3	Duplication (splice acceptor variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2794293	NM_001130144.3(LTBP3):c.3183C>T (p.Ala1061=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2792919	NM_001130144.3(LTBP3):c.3330G>A (p.Pro1110=)	LOC130006027, LTBP3	Single nucleotide variant (synonymous variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2777584	NM_001130144.3(LTBP3):c.2978-11T>C	LOC121832793, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2771800	NM_001130144.3(LTBP3):c.3245-19_3245-10dup	LOC121832793, LTBP3	Duplication (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2771237	NM_001130144.3(LTBP3):c.3173A>G (p.Tyr1058Cys)	LOC121832793, LTBP3 (Y941C +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2770799	NM_001130144.3(LTBP3):c.2252G>A (p.Gly751Asp)	LOC130006029, LTBP3 (G751D +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2767752	NM_001130144.3(LTBP3):c.3228G>C (p.Leu1076=)	LOC121832793, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2760520	NM_001130144.3(LTBP3):c.2978-17T>G	LOC121832793, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2758917	NM_001130144.3(LTBP3):c.2846G>A (p.Gly949Asp)	LOC130006028, LTBP3 (G832D +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2757508	NM_001130144.3(LTBP3):c.2181C>T (p.Cys727=)	LOC130006030, LTBP3	Single nucleotide variant (synonymous variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2749602	NM_001130144.3(LTBP3):c.3385+6G>C	LOC130006027, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2744717	NM_001130144.3(LTBP3):c.2231-1G>C	LOC130006029, LTBP3	Single nucleotide variant (splice acceptor variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely pathogenic
Select item 2740803	NM_001130144.3(LTBP3):c.2206A>G (p.Ser736Gly)	LOC130006030, LTBP3 (S736G +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GUncertain significance
Select item 2733774	NM_001130144.3(LTBP3):c.2978-18G>T	LOC121832793, LTBP3	Single nucleotide variant (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2732378	NM_001130144.3(LTBP3):c.2232C>G (p.Asp744Glu)	LOC130006029, LTBP3 (D627E +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2728738	NM_001130144.3(LTBP3):c.3245-17_3245-14dup	LOC121832793, LTBP3	Duplication (intron variant)	Brachyolmia-amelogenesis imperfecta syndrome	GLikely benign
Select item 2727680	NM_001130144.3(LTBP3):c.3359A>T (p.Asp1120Val)	LOC130006027, LTBP3 (D1120V)	Single nucleotide variant (missense variant +1 more)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2727232	NM_001130144.3(LTBP3):c.2947A>G (p.Ile983Val)	LOC121832793, LTBP3 (I866V +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2725936	NM_001130144.3(LTBP3):c.2218G>A (p.Gly740Arg)	LOC130006030, LTBP3 (G623R +1 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance
Select item 2725363	NM_001130144.3(LTBP3):c.2324CGCCCG[3] (p.Pro778_Asp779insAlaPro)	LOC130006029, LTBP3	Microsatellite (inframe_insertion)	Brachyolmia-amelogenesis imperfecta syndrome	GUncertain significance

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