Related gene-specific medical variations for Gene (Select 1103) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358480	NM_003055.3(SLC18A3):c.842C>T (p.Pro281Leu)	CHAT, SLC18A3 (P281L)	Single nucleotide variant (missense variant +1 more)	SLC18A3-related disorder	GUncertain significance
Select item 3319008	NM_003055.3(SLC18A3):c.701T>G (p.Ile234Ser)	CHAT, SLC18A3 (I234S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319007	NM_003055.3(SLC18A3):c.1409G>T (p.Arg470Leu)	CHAT, SLC18A3 (R470L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319006	NM_003055.3(SLC18A3):c.1269C>G (p.Ile423Met)	CHAT, SLC18A3 (I423M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3244829	NC_000010.10:g.(?_50854637)_(50864625_?)del	CHAT	Deletion	Familial infantile myasthenia	GPathogenic
Select item 3244827	NC_000010.10:g.(?_50872803)_(50873092_?)del	CHAT	Deletion	Familial infantile myasthenia	GPathogenic
Select item 3241155	NM_020549.5(CHAT):c.921del (p.Cys308fs)	CHAT (C190fs +2 more)	Deletion (frameshift variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241154	NM_020549.5(CHAT):c.1112-1G>C	CHAT	Single nucleotide variant (splice acceptor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241153	NM_020549.5(CHAT):c.1511+2T>A	CHAT	Single nucleotide variant (splice donor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241152	NM_020549.5(CHAT):c.753-1G>C	CHAT	Single nucleotide variant (splice acceptor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241151	NM_020549.5(CHAT):c.1687C>T (p.Gln563Ter)	CHAT (Q445* +2 more)	Single nucleotide variant (nonsense)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241150	NM_020549.5(CHAT):c.1511+1G>A	CHAT	Single nucleotide variant (splice donor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241149	NM_020549.5(CHAT):c.1419del (p.Val474fs)	CHAT (V356fs +2 more)	Deletion (frameshift variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3241148	NM_020549.5(CHAT):c.1383-2A>G	CHAT	Single nucleotide variant (splice acceptor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3163238	NM_003055.3(SLC18A3):c.985A>T (p.Met329Leu)	CHAT, SLC18A3 (M329L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163236	NM_003055.3(SLC18A3):c.680T>G (p.Val227Gly)	CHAT, SLC18A3 (V227G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163234	NM_003055.3(SLC18A3):c.350C>T (p.Thr117Met)	CHAT, SLC18A3 (T117M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163233	NM_003055.3(SLC18A3):c.1202T>C (p.Leu401Pro)	CHAT, SLC18A3 (L401P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163232	NM_003055.3(SLC18A3):c.1084C>G (p.Leu362Val)	CHAT, SLC18A3 (L362V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065921	NM_003055.3(SLC18A3):c.539C>G (p.Ala180Gly)	CHAT, SLC18A3 (A180G)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 21	GUncertain significance
Select item 3065253	NM_020549.5(CHAT):c.1978-1G>A	CHAT	Single nucleotide variant (splice acceptor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 3058335	NM_003055.3(SLC18A3):c.1542G>A (p.Pro514=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	SLC18A3-related disorder	GLikely benign
Select item 3020228	NM_003055.3(SLC18A3):c.864C>T (p.Asp288=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010690	NM_003055.3(SLC18A3):c.1122G>C (p.Val374=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006105	NM_003055.3(SLC18A3):c.972G>A (p.Glu324=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000951	NM_003055.3(SLC18A3):c.183C>T (p.Ile61=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985423	NM_003055.3(SLC18A3):c.456C>A (p.Asp152Glu)	CHAT, SLC18A3 (D152E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973197	NM_003055.3(SLC18A3):c.1215C>T (p.Leu405=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972968	NM_003055.3(SLC18A3):c.768G>A (p.Ala256=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972422	NM_003055.3(SLC18A3):c.570C>T (p.Ala190=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967752	NM_003055.3(SLC18A3):c.318A>G (p.Pro106=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960029	NM_003055.3(SLC18A3):c.843C>G (p.Pro281=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957500	NM_003055.3(SLC18A3):c.1212G>T (p.Thr404=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955462	NM_003055.3(SLC18A3):c.39G>A (p.Ala13=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2910745	NM_003055.3(SLC18A3):c.623C>G (p.Pro208Arg)	CHAT, SLC18A3 (P208R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2907396	NM_003055.3(SLC18A3):c.1116C>A (p.Cys372Ter)	CHAT, SLC18A3 (C372*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2893721	NM_003055.3(SLC18A3):c.195C>T (p.Arg65=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2853005	NM_003055.3(SLC18A3):c.1392C>G (p.Pro464=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2786734	NM_003055.3(SLC18A3):c.717C>T (p.Ala239=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776520	NM_003055.3(SLC18A3):c.1155C>T (p.Val385=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2715993	NM_003055.3(SLC18A3):c.704T>A (p.Leu235His)	CHAT, SLC18A3 (L235H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2688767	NM_020549.5(CHAT):c.314G>T (p.Gly105Val)	CHAT (G105V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial infantile myasthenia	GUncertain significance
Select item 2680741	NM_020549.5(CHAT):c.2046C>G (p.Tyr682Ter)	CHAT (Y564* +2 more)	Single nucleotide variant (nonsense)	Familial infantile myasthenia	GLikely pathogenic
Select item 2680740	NM_020549.5(CHAT):c.1294C>T (p.Arg432Ter)	CHAT (R314* +2 more)	Single nucleotide variant (nonsense)	Familial infantile myasthenia	GLikely pathogenic
Select item 2680739	NM_020549.5(CHAT):c.287-2A>G	CHAT	Single nucleotide variant (splice acceptor variant)	Familial infantile myasthenia	GUncertain significance
Select item 2680738	NM_020549.5(CHAT):c.413del (p.Pro138fs)	CHAT (P138fs +2 more)	Deletion (frameshift variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 2680735	NM_020549.5(CHAT):c.1382+2_1382+3del	CHAT	Microsatellite (splice donor variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 2680734	NM_020549.5(CHAT):c.156_157insA (p.Gly53fs)	CHAT (G53fs)	Insertion (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2680733	NM_020549.5(CHAT):c.286+1G>T	CHAT	Single nucleotide variant (intron variant +1 more)	Familial infantile myasthenia	GUncertain significance
Select item 2680732	NM_020549.5(CHAT):c.1418_1419dup (p.Val474fs)	CHAT (V356fs +2 more)	Duplication (frameshift variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 2680731	NM_020549.5(CHAT):c.593G>A (p.Trp198Ter)	CHAT (W116* +2 more)	Single nucleotide variant (nonsense)	Familial infantile myasthenia	GLikely pathogenic
Select item 2680730	NM_020549.5(CHAT):c.1249G>A (p.Gly417Arg)	CHAT (G299R +2 more)	Single nucleotide variant (missense variant)	Familial infantile myasthenia	GLikely pathogenic
Select item 2623728	NM_003055.3(SLC18A3):c.869A>G (p.Tyr290Cys)	CHAT, SLC18A3 (Y290C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582879	NM_003055.3(SLC18A3):c.225C>T (p.Pro75=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2554983	NM_003055.3(SLC18A3):c.1210A>G (p.Thr404Ala)	CHAT, SLC18A3 (T404A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532904	NM_003055.3(SLC18A3):c.1232T>C (p.Val411Ala)	CHAT, SLC18A3 (V411A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523710	NM_003055.3(SLC18A3):c.916G>T (p.Ala306Ser)	CHAT, SLC18A3 (A306S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2439948	NM_020549.5(CHAT):c.178C>T (p.His60Tyr)	CHAT (H60Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2439946	NM_020549.5(CHAT):c.91G>A (p.Val31Met)	CHAT (V31M)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2439945	NM_020549.5(CHAT):c.1426G>A (p.Glu476Lys)	CHAT (E358K +2 more)	Single nucleotide variant (missense variant)	Familial infantile myasthenia	GUncertain significance
Select item 2439944	NM_020549.5(CHAT):c.335T>G (p.Leu112Arg)	CHAT (L112R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial infantile myasthenia	GUncertain significance
Select item 2439943	NM_020549.5(CHAT):c.279G>C (p.Arg93Ser)	CHAT (R93S)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2417761	NM_003055.3(SLC18A3):c.741G>T (p.Val247=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2417669	NM_003055.3(SLC18A3):c.1074G>A (p.Leu358=)	SLC18A3, CHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2416828	NM_003055.3(SLC18A3):c.867C>T (p.Pro289=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2321548	NM_003055.3(SLC18A3):c.1033A>G (p.Thr345Ala)	CHAT, SLC18A3 (T345A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316590	NM_003055.3(SLC18A3):c.854T>C (p.Leu285Pro)	CHAT, SLC18A3 (L285P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2290072	NM_003055.3(SLC18A3):c.175G>A (p.Asp59Asn)	SLC18A3, CHAT (D59N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278886	NM_003055.3(SLC18A3):c.778C>A (p.Leu260Met)	CHAT, SLC18A3 (L260M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269766	NM_003055.3(SLC18A3):c.347C>T (p.Pro116Leu)	CHAT, SLC18A3 (P116L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253904	NM_003055.3(SLC18A3):c.856A>G (p.Met286Val)	SLC18A3, CHAT (M286V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208343	NM_003055.3(SLC18A3):c.296C>G (p.Ala99Gly)	CHAT, SLC18A3 (A99G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2192510	NM_003055.3(SLC18A3):c.1251T>C (p.Tyr417=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2188929	NM_003055.3(SLC18A3):c.841C>G (p.Pro281Ala)	CHAT, SLC18A3 (P281A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2186827	NM_003055.3(SLC18A3):c.1248C>G (p.Val416=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2186441	NM_003055.3(SLC18A3):c.1164C>T (p.Cys388=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2178305	NM_003055.3(SLC18A3):c.11C>G (p.Ala4Gly)	CHAT, SLC18A3 (A4G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2177140	NM_003055.3(SLC18A3):c.921C>G (p.Phe307Leu)	CHAT, SLC18A3 (F307L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175944	NM_003055.3(SLC18A3):c.114C>T (p.Ile38=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2171450	NM_003055.3(SLC18A3):c.1299G>C (p.Ala433=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2133513	NM_003055.3(SLC18A3):c.1510G>A (p.Val504Met)	CHAT, SLC18A3 (V504M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2126419	NM_003055.3(SLC18A3):c.949A>C (p.Lys317Gln)	CHAT, SLC18A3 (K317Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2121337	NM_003055.3(SLC18A3):c.604G>T (p.Asp202Tyr)	CHAT, SLC18A3 (D202Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120738	NM_003055.3(SLC18A3):c.600C>T (p.Ile200=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2117615	NM_003055.3(SLC18A3):c.238C>T (p.Pro80Ser)	CHAT, SLC18A3 (P80S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2117178	NM_003055.3(SLC18A3):c.108T>A (p.Leu36=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2109767	NM_003055.3(SLC18A3):c.803C>T (p.Ala268Val)	CHAT, SLC18A3 (A268V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2104563	NM_003055.3(SLC18A3):c.1344T>A (p.Phe448Leu)	CHAT, SLC18A3 (F448L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2103555	NM_003055.3(SLC18A3):c.288C>T (p.Asn96=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2100579	NM_003055.3(SLC18A3):c.1473A>C (p.Gln491His)	CHAT, SLC18A3 (Q491H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2090890	NM_003055.3(SLC18A3):c.769C>T (p.Leu257=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2080794	NM_003055.3(SLC18A3):c.1063C>G (p.Leu355Val)	CHAT, SLC18A3 (L355V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2074653	NM_003055.3(SLC18A3):c.956C>G (p.Thr319Arg)	CHAT, SLC18A3 (T319R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2059089	NM_003055.3(SLC18A3):c.988G>T (p.Ala330Ser)	CHAT, SLC18A3 (A330S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058813	NM_003055.3(SLC18A3):c.1299G>T (p.Ala433=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056335	NM_003055.3(SLC18A3):c.595A>G (p.Met199Val)	CHAT, SLC18A3 (M199V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2051278	NM_003055.3(SLC18A3):c.866C>T (p.Pro289Leu)	CHAT, SLC18A3 (P289L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2043391	NM_003055.3(SLC18A3):c.840T>A (p.Thr280=)	SLC18A3, CHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2030099	NM_003055.3(SLC18A3):c.819G>C (p.Arg273=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2024933	NM_003055.3(SLC18A3):c.1153G>A (p.Val385Ile)	CHAT, SLC18A3 (V385I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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