"Invitae"[submitter] AND "CHAT"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 646404	NC_000010.11:g.(?_49458805)_(49665056_?)del	LOC113939916, LOC126860933 +10 more	Deletion	not provided	GPathogenic
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)	SLC18A3, CHAT (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)	CHAT, SLC18A3 (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)	CHAT, SLC18A3 (A14D)	Single nucleotide variant (missense variant +1 more)	not provided +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)	SLC18A3, CHAT (R29W)	Single nucleotide variant (missense variant +1 more)	SLC18A3-related condition +2 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)	CHAT-related condition +1 more	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)	SLC18A3, CHAT (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 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)	CHAT, SLC18A3 (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 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=)	SLC18A3, CHAT	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=)	SLC18A3, CHAT	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 1505812	NM_003055.3(SLC18A3):c.302C>T (p.Pro101Leu)	CHAT, SLC18A3 (P101L)	Single nucleotide variant (missense variant +1 more)	not provided	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 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)	not provided +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=)	CHAT, SLC18A3	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	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)	CHAT, SLC18A3 (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 1575586	NM_003055.3(SLC18A3):c.543G>T (p.Ala181=)	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 1438021	NM_003055.3(SLC18A3):c.591A>G (p.Ile197Met)	CHAT, SLC18A3 (I197M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1491532	NM_003055.3(SLC18A3):c.595A>C (p.Met199Leu)	CHAT, SLC18A3 (M199L)	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 1543950	NM_003055.3(SLC18A3):c.603C>G (p.Ala201=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2121337	NM_003055.3(SLC18A3):c.604G>T (p.Asp202Tyr)	SLC18A3, CHAT (D202Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 717240	NM_003055.3(SLC18A3):c.615G>C (p.Pro205=)	SLC18A3, CHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 1448132	NM_003055.3(SLC18A3):c.623C>T (p.Pro208Leu)	CHAT, SLC18A3 (P208L)	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1897293	NM_003055.3(SLC18A3):c.634C>A (p.Arg212Ser)	CHAT, SLC18A3 (R212S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 790628	NM_003055.3(SLC18A3):c.636T>C (p.Arg212=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1670378	NM_003055.3(SLC18A3):c.642G>A (p.Leu214=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1413308	NM_003055.3(SLC18A3):c.646G>T (p.Val216Leu)	CHAT, SLC18A3 (V216L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1528906	NM_003055.3(SLC18A3):c.651G>A (p.Ala217=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1353496	NM_003055.3(SLC18A3):c.656C>A (p.Ala219Asp)	CHAT, SLC18A3 (A219D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1918732	NM_003055.3(SLC18A3):c.669C>T (p.Phe223=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1395685	NM_003055.3(SLC18A3):c.680T>C (p.Val227Ala)	SLC18A3, CHAT (V227A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1358954	NM_003055.3(SLC18A3):c.682G>T (p.Ala228Ser)	SLC18A3, CHAT (A228S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1546549	NM_003055.3(SLC18A3):c.687G>T (p.Pro229=)	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 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 747140	NM_003055.3(SLC18A3):c.708T>C (p.Tyr236=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1408448	NM_003055.3(SLC18A3):c.715G>T (p.Ala239Ser)	CHAT, SLC18A3 (A239S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2786734	NM_003055.3(SLC18A3):c.717C>T (p.Ala239=)	SLC18A3, CHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1349264	NM_003055.3(SLC18A3):c.718G>C (p.Gly240Arg)	CHAT, SLC18A3 (G240R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1926996	NM_003055.3(SLC18A3):c.727G>T (p.Val243Leu)	CHAT, SLC18A3 (V243L)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 2090890	NM_003055.3(SLC18A3):c.769C>T (p.Leu257=)	SLC18A3, CHAT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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