CHAT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
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 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	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 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148406	GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 57577	GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147898	GRCh38/hg38 10q11.23(chr10:49109413-49618870)x1	C10orf71, C10orf71-AS1 +24 more	Copy number loss	See cases	GUncertain significance
Select item 646404	NC_000010.11:g.(?_49458805)_(49665056_?)del	LOC130003804, LOC130003805 +10 more	Deletion	not provided	GPathogenic
Select item 1328608	NC_000010.11:g.49608962C>A	CHAT	Single nucleotide variant	not provided	GBenign
Select item 1902054	NM_003055.3(SLC18A3):c.9C>T (p.Ser3=)	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 1949458	NM_003055.3(SLC18A3):c.12G>A (p.Ala4=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1354149	NM_003055.3(SLC18A3):c.32G>T (p.Arg11Leu)	CHAT, SLC18A3 (R11L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 735895	NM_003055.3(SLC18A3):c.32G>A (p.Arg11Gln)	SLC18A3, CHAT (R11Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1947723	NM_003055.3(SLC18A3):c.34_35delinsAG (p.Ala12Arg)	SLC18A3, CHAT (A12R)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1948004	NM_003055.3(SLC18A3):c.36G>A (p.Ala12=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717239	NM_003055.3(SLC18A3):c.37G>C (p.Ala13Pro)	CHAT, SLC18A3 (A13P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 1582049	NM_003055.3(SLC18A3):c.41C>T (p.Ala14Val)	CHAT, SLC18A3 (A14V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1408631	NM_003055.3(SLC18A3):c.41C>A (p.Ala14Asp)	SLC18A3, CHAT (A14D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1509916	NM_003055.3(SLC18A3):c.46A>G (p.Lys16Glu)	CHAT, SLC18A3 (K16E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352516	NM_003055.3(SLC18A3):c.64G>A (p.Gly22Ser)	CHAT, SLC18A3 (G22S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 732977	NM_003055.3(SLC18A3):c.85C>T (p.Arg29Trp)	CHAT, SLC18A3 (R29W)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 21 +1 more	GConflicting classifications of pathogenicity
Select item 1599808	NM_003055.3(SLC18A3):c.88C>A (p.Arg30=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1032111	NM_003055.3(SLC18A3):c.88C>T (p.Arg30Trp)	CHAT, SLC18A3 (R30W)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 21 +1 more	GUncertain significance
Select item 1641101	NM_003055.3(SLC18A3):c.90G>A (p.Arg30=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1380855	NM_003055.3(SLC18A3):c.110T>C (p.Val37Ala)	CHAT, SLC18A3 (V37A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1415978	NM_003055.3(SLC18A3):c.112A>T (p.Ile38Phe)	CHAT, SLC18A3 (I38F)	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 1390102	NM_003055.3(SLC18A3):c.137A>G (p.Asp46Gly)	CHAT, SLC18A3 (D46G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1032110	NM_003055.3(SLC18A3):c.151A>G (p.Met51Val)	CHAT, SLC18A3 (M51V)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 21	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 1943535	NM_003055.3(SLC18A3):c.177C>G (p.Asp59Glu)	CHAT, SLC18A3 (D59E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1394695	NM_003055.3(SLC18A3):c.183C>G (p.Ile61Met)	SLC18A3, CHAT (I61M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1935460	NM_003055.3(SLC18A3):c.193C>G (p.Arg65Gly)	CHAT, SLC18A3 (R65G)	Single nucleotide variant (missense variant +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 1651616	NM_003055.3(SLC18A3):c.208G>A (p.Gly70Ser)	CHAT, SLC18A3 (G70S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1622145	NM_003055.3(SLC18A3):c.216C>A (p.Thr72=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1440143	NM_003055.3(SLC18A3):c.239C>T (p.Pro80Leu)	CHAT, SLC18A3 (P80L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1617613	NM_003055.3(SLC18A3):c.240C>T (p.Pro80=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1945253	NM_003055.3(SLC18A3):c.244C>T (p.Leu82=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1923210	NM_003055.3(SLC18A3):c.249G>A (p.Pro83=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1562931	NM_003055.3(SLC18A3):c.249G>T (p.Pro83=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1634640	NM_003055.3(SLC18A3):c.261G>A (p.Pro87=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1400025	NM_003055.3(SLC18A3):c.280A>G (p.Thr94Ala)	CHAT, SLC18A3 (T94A)	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 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 1505812	NM_003055.3(SLC18A3):c.302C>T (p.Pro101Leu)	CHAT, SLC18A3 (P101L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1391574	NM_003055.3(SLC18A3):c.323G>C (p.Gly108Ala)	CHAT, SLC18A3 (G108A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1521953	NM_003055.3(SLC18A3):c.329C>A (p.Ala110Asp)	CHAT, SLC18A3 (A110D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308564	NM_003055.3(SLC18A3):c.334C>T (p.Arg112Trp)	CHAT, SLC18A3 (R112W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451558	NM_003055.3(SLC18A3):c.347del (p.Pro116fs)	CHAT, SLC18A3 (P116fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
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 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 1542436	NM_003055.3(SLC18A3):c.351G>A (p.Thr117=)	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 1499228	NM_003055.3(SLC18A3):c.385G>T (p.Ala129Ser)	CHAT, SLC18A3 (A129S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1481751	NM_003055.3(SLC18A3):c.392A>G (p.Lys131Arg)	CHAT, SLC18A3 (K131R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1648246	NM_003055.3(SLC18A3):c.393G>A (p.Lys131=)	SLC18A3, CHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1279739	NM_003055.3(SLC18A3):c.396T>C (p.Ala132=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1510629	NM_003055.3(SLC18A3):c.428G>C (p.Gly143Ala)	CHAT, SLC18A3 (G143A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1442139	NM_003055.3(SLC18A3):c.442C>T (p.Arg148Cys)	CHAT, SLC18A3 (R148C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1416383	NM_003055.3(SLC18A3):c.443G>T (p.Arg148Leu)	CHAT, SLC18A3 (R148L)	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 2985423	NM_003055.3(SLC18A3):c.456C>A (p.Asp152Glu)	SLC18A3, CHAT (D152E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1392036	NM_003055.3(SLC18A3):c.479_480delinsTT (p.Gly160Val)	SLC18A3, CHAT (G160V)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1636036	NM_003055.3(SLC18A3):c.510C>A (p.Ala170=)	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 1515400	NM_003055.3(SLC18A3):c.515C>T (p.Ala172Val)	CHAT, SLC18A3 (A172V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1906656	NM_003055.3(SLC18A3):c.519G>A (p.Glu173=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1389007	NM_003055.3(SLC18A3):c.524A>G (p.Tyr175Cys)	CHAT, SLC18A3 (Y175C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 764636	NM_003055.3(SLC18A3):c.525C>T (p.Tyr175=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1945562	NM_003055.3(SLC18A3):c.530C>T (p.Thr177Met)	CHAT, SLC18A3 (T177M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1573020	NM_003055.3(SLC18A3):c.534G>C (p.Leu178=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1541112	NM_003055.3(SLC18A3):c.534G>A (p.Leu178=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1575586	NM_003055.3(SLC18A3):c.543G>T (p.Ala181=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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