CHAT[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328608	NC_000010.11:g.49608962C>A	CHAT	Single nucleotide variant	not provided	GBenign
Select item 1255202	NM_020984.4(CHAT):c.-68-3357G>T	CHAT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1273713	NM_020984.4(CHAT):c.-68-2714T>G	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681266	NM_020549.4(CHAT):c.-220C>G	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261325	NM_020549.5(CHAT):c.-44G>C	CHAT	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 657906	NC_000010.11:g.(?_49614170)_(49665066_?)del	CHAT	Deletion	Familial infantile myasthenia	GPathogenic
Select item 193434	NM_020549.5(CHAT):c.-17G>A	CHAT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 652976	NC_000010.10:g.(?_50822226)_(50873102_?)dup	CHAT	Duplication	Familial infantile myasthenia	GUncertain significance
Select item 193433	NM_020549.5(CHAT):c.-10T>G	CHAT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 1331451	NM_020549.5(CHAT):c.6del (p.Gly2_Leu3insTer)	CHAT	Deletion (5 prime UTR variant +3 more)	Familial infantile myasthenia +1 more	GUncertain significance
Select item 1104697	NM_020549.5(CHAT):c.18G>A (p.Ala6=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1391936	NM_020549.5(CHAT):c.24G>T (p.Lys8Asn)	CHAT (K8N)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 764684	NM_020549.5(CHAT):c.24G>A (p.Lys8=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 128723	NM_020549.5(CHAT):c.25A>G (p.Arg9Gly)	CHAT (R9G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1046326	NM_020549.5(CHAT):c.26G>A (p.Arg9Lys)	CHAT (R9K)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2201513	NM_020549.5(CHAT):c.27G>A (p.Arg9=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2847294	NM_020549.5(CHAT):c.30G>C (p.Gly10=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1925790	NM_020549.5(CHAT):c.30G>T (p.Gly10=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1654008	NM_020549.5(CHAT):c.30G>A (p.Gly10=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2964134	NM_020549.5(CHAT):c.33T>C (p.Leu11=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2212998	NM_020549.5(CHAT):c.35G>T (p.Gly12Val)	CHAT (G12V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 935529	NM_020549.5(CHAT):c.35G>A (p.Gly12Glu)	CHAT (G12E)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 949501	NM_020549.5(CHAT):c.45del (p.Lys16fs)	CHAT (K16fs)	Deletion (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 1501841	NM_020549.5(CHAT):c.43G>A (p.Gly15Arg)	CHAT (G15R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2974125	NM_020549.5(CHAT):c.45G>C (p.Gly15=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2914249	NM_020549.5(CHAT):c.45G>A (p.Gly15=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 575316	NM_020549.5(CHAT):c.59_60del (p.Glu20fs)	CHAT (E20fs)	Microsatellite (5 prime UTR variant +2 more)	Familial infantile myasthenia +2 more	GConflicting classifications of pathogenicity
Select item 1664635	NM_020549.5(CHAT):c.54G>A (p.Lys18=)	CHAT	Single nucleotide variant (synonymous variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2997667	NM_020549.5(CHAT):c.55A>G (p.Arg19Gly)	CHAT (R19G)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2627271	NM_020549.5(CHAT):c.58del (p.Glu20fs)	CHAT (E20fs)	Deletion (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1934713	NM_020549.5(CHAT):c.82A>G (p.Arg28Gly)	CHAT (R28G)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2911036	NM_020549.5(CHAT):c.84G>A (p.Arg28=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1449205	NM_020549.5(CHAT):c.84G>T (p.Arg28Ser)	CHAT (R28S)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia +1 more	GUncertain significance
Select item 772954	NM_020549.5(CHAT):c.85A>C (p.Arg29=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 286608	NM_020549.5(CHAT):c.85A>T (p.Arg29Ter)	CHAT (R29*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1043323	NM_020549.5(CHAT):c.86G>A (p.Arg29Lys)	CHAT (R29K)	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 1370502	NM_020549.5(CHAT):c.92T>G (p.Val31Gly)	CHAT (V31G)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia +1 more	GUncertain significance
Select item 935587	NM_020549.5(CHAT):c.92T>A (p.Val31Glu)	CHAT (V31E)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2729082	NM_020549.5(CHAT):c.93G>T (p.Val31=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 735981	NM_020549.5(CHAT):c.93G>C (p.Val31=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 937531	NM_020549.5(CHAT):c.94C>T (p.Arg32Trp)	CHAT (R32W)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 1011983	NM_020549.5(CHAT):c.104G>A (p.Cys35Tyr)	CHAT (C35Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 3012390	NM_020549.5(CHAT):c.111C>T (p.Leu37=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1558588	NM_020549.5(CHAT):c.114G>C (p.Gln38His)	CHAT (Q38H)	Single nucleotide variant (5 prime UTR variant +3 more)	Familial infantile myasthenia	GLikely benign
Select item 1132438	NM_020549.5(CHAT):c.117G>C (p.Ser39=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 650816	NM_020549.5(CHAT):c.119G>T (p.Gly40Val)	CHAT (G40V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2954637	NM_020549.5(CHAT):c.120T>C (p.Gly40=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1419236	NM_020549.5(CHAT):c.122G>C (p.Gly41Ala)	CHAT (G41A)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 1061660	NM_020549.5(CHAT):c.122G>A (p.Gly41Asp)	CHAT (G41D)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2899501	NM_020549.5(CHAT):c.126C>T (p.Arg42=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 498121	NM_020549.5(CHAT):c.127G>A (p.Gly43Arg)	CHAT (G43R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2886931	NM_020549.5(CHAT):c.135G>A (p.Pro45=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2175685	NM_020549.5(CHAT):c.135G>T (p.Pro45=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1655509	NM_020549.5(CHAT):c.135G>C (p.Pro45=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2701678	NM_020549.5(CHAT):c.138C>A (p.Gly46=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 128718	NM_020549.5(CHAT):c.141C>G (p.Asp47Glu)	CHAT (D47E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 848380	NM_020549.5(CHAT):c.146dup (p.Gly50fs)	CHAT (G50fs)	Duplication (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 1553304	NM_020549.5(CHAT):c.150C>A (p.Gly50=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2732622	NM_020549.5(CHAT):c.156C>G (p.Ala52=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
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 797193	NM_020549.5(CHAT):c.156C>T (p.Ala52=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1360666	NM_020549.5(CHAT):c.157G>C (p.Gly53Arg)	CHAT (G53R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 1026742	NM_020549.5(CHAT):c.157G>A (p.Gly53Arg)	CHAT (G53R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia +2 more	GUncertain significance
Select item 3022214	NM_020549.5(CHAT):c.159G>A (p.Gly53=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2043537	NM_020549.5(CHAT):c.166G>C (p.Gly56Arg)	CHAT (G56R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 3022303	NM_020549.5(CHAT):c.168C>A (p.Gly56=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 461453	NM_020549.5(CHAT):c.174C>A (p.Ser58Arg)	CHAT (S58R)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GBenign
Select item 646702	NM_020549.5(CHAT):c.176C>T (p.Pro59Leu)	CHAT (P59L)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2979516	NM_020549.5(CHAT):c.177C>T (p.Pro59=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
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 1594659	NM_020549.5(CHAT):c.180C>T (p.His60=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 649277	NM_020549.5(CHAT):c.181C>T (p.Pro61Ser)	CHAT (P61S)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 648295	NM_020549.5(CHAT):c.181C>A (p.Pro61Thr)	CHAT (P61T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2023329	NM_020549.5(CHAT):c.186C>T (p.Arg62=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2151849	NM_020549.5(CHAT):c.188C>T (p.Ala63Val)	CHAT (A63V)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2065461	NM_020549.5(CHAT):c.196C>A (p.Arg66Ser)	CHAT (R66S)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 1704591	NM_020549.5(CHAT):c.196_198delinsGG (p.Arg66fs)	CHAT (R66fs)	Indel (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1582439	NM_020549.5(CHAT):c.198C>T (p.Arg66=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2192479	NM_020549.5(CHAT):c.201C>A (p.Pro67=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1637288	NM_020549.5(CHAT):c.201C>T (p.Pro67=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1464520	NM_020549.5(CHAT):c.205C>A (p.Pro69Thr)	CHAT (P69T)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 954911	NM_020549.5(CHAT):c.208del (p.Leu70fs)	CHAT (L70fs)	Deletion (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 573329	NM_020549.5(CHAT):c.206C>A (p.Pro69His)	CHAT (P69H)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 1546546	NM_020549.5(CHAT):c.207C>T (p.Pro69=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1416235	NM_020549.5(CHAT):c.212C>A (p.Pro71Gln)	CHAT (P71Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 1942455	NM_020549.5(CHAT):c.219C>T (p.His73=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 461456	NM_020549.5(CHAT):c.220A>G (p.Thr74Ala)	CHAT (T74A)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 960118	NM_020549.5(CHAT):c.221C>T (p.Thr74Ile)	CHAT (T74I)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 461457	NM_020549.5(CHAT):c.222C>T (p.Thr74=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2421713	NM_020549.5(CHAT):c.224C>T (p.Pro75Leu)	CHAT (P75L)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia +1 more	GUncertain significance
Select item 2913656	NM_020549.5(CHAT):c.225C>A (p.Pro75=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 2796310	NM_020549.5(CHAT):c.228C>G (p.Ala76=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1385765	NM_020549.5(CHAT):c.230A>G (p.His77Arg)	CHAT (H77R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 850976	NM_020549.5(CHAT):c.232A>C (p.Thr78Pro)	CHAT (T78P)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 3266804	NM_020549.5(CHAT):c.236C>T (p.Pro79Leu)	CHAT (P79L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 845904	NM_020549.5(CHAT):c.238G>C (p.Glu80Gln)	CHAT (E80Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance
Select item 2865144	NM_020549.5(CHAT):c.240G>A (p.Glu80=)	CHAT	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GLikely benign
Select item 1321379	NM_020549.5(CHAT):c.243G>A (p.Trp81Ter)	CHAT (W81*)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1496819	NM_020549.5(CHAT):c.244T>G (p.Cys82Gly)	CHAT (C82G)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial infantile myasthenia	GUncertain significance

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