ClinVar for Gene (Select 6572) - 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 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	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 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	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 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 2685374	GRCh37/hg19 10q11.23(chr10:50795114-51134640)x1	C10orf53, CHAT +3 more	Copy number loss	not provided	GUncertain significance
Select item 2684603	GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	C10orf71, CHAT +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
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 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 2426566	NC_000010.10:g.(?_50818787)_(50824668_?)dup	CHAT, SLC18A3	Duplication	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=)	CHAT, SLC18A3	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)	CHAT, SLC18A3 (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)	CHAT, SLC18A3 (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=)	SLC18A3, CHAT	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=)	SLC18A3, CHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2109767	NM_003055.3(SLC18A3):c.803C>T (p.Ala268Val)	SLC18A3, CHAT (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)	SLC18A3, CHAT (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=)	CHAT, SLC18A3	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
Select item 2018603	NM_003055.3(SLC18A3):c.279C>T (p.Tyr93=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1997347	NM_003055.3(SLC18A3):c.1475G>A (p.Gly492Asp)	CHAT, SLC18A3 (G492D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1995534	NM_003055.3(SLC18A3):c.454G>T (p.Asp152Tyr)	CHAT, SLC18A3 (D152Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1981513	NM_003055.3(SLC18A3):c.1092G>C (p.Leu364=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1979528	NM_003055.3(SLC18A3):c.379C>T (p.Leu127=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1977487	NM_003055.3(SLC18A3):c.811C>A (p.Arg271=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1977270	NM_003055.3(SLC18A3):c.765C>T (p.Asp255=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1967679	NM_003055.3(SLC18A3):c.707A>G (p.Tyr236Cys)	CHAT, SLC18A3 (Y236C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1966675	NM_003055.3(SLC18A3):c.1102G>A (p.Gly368Ser)	CHAT, SLC18A3 (G368S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1964470	NM_003055.3(SLC18A3):c.1063C>T (p.Leu355=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1964352	NM_003055.3(SLC18A3):c.1302C>A (p.Leu434=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1963799	NM_003055.3(SLC18A3):c.513C>T (p.Phe171=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1963766	NM_003055.3(SLC18A3):c.418C>T (p.Pro140Ser)	CHAT, SLC18A3 (P140S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1963479	NM_003055.3(SLC18A3):c.1034C>T (p.Thr345Ile)	CHAT, SLC18A3 (T345I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956900	NM_003055.3(SLC18A3):c.634C>T (p.Arg212Cys)	CHAT, SLC18A3 (R212C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1955826	NM_003055.3(SLC18A3):c.1524C>G (p.Asp508Glu)	CHAT, SLC18A3 (D508E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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