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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1328608	NC_000010.11:g.49608962C>A	CHAT	Single nucleotide variant	not provided	GBenign
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 1279739	NM_003055.3(SLC18A3):c.396T>C (p.Ala132=)	CHAT, SLC18A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 451787	NM_003055.3(SLC18A3):c.599T>A (p.Ile200Asn)	CHAT, SLC18A3 (I200N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1305707	NM_020984.4(CHAT):c.-69+2202A>G	CHAT, SLC18A3 (I221V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303172	NM_020984.4(CHAT):c.-69+2320T>A	CHAT, SLC18A3 (L260Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 451786	NM_003055.3(SLC18A3):c.945G>A (p.Trp315Ter)	CHAT, SLC18A3 (W315*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1303981	NM_003055.3(SLC18A3):c.1445G>A (p.Arg482His)	CHAT, SLC18A3 (R482H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 802572	NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)	CHAT, SLC18A3 (A520E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1175691	NM_003055.3(SLC18A3):c.*39G>T	CHAT, SLC18A3	Single nucleotide variant (3 prime UTR variant +1 more)	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 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 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 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 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 1217544	NM_020549.5(CHAT):c.286+79C>T	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681268	NM_020549.5(CHAT):c.287-718G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681270	NM_020549.5(CHAT):c.287-567C>T	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681271	NM_020549.5(CHAT):c.287-510C>T	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190222	NM_020549.5(CHAT):c.287-442C>T	CHAT (P3L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 402536	NM_020549.5(CHAT):c.287-431G>A	CHAT (D7N)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 681272	NM_020549.5(CHAT):c.287-304C>A	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817424	NM_020549.5(CHAT):c.349del (p.Arg117fs)	CHAT (R117fs +1 more)	Deletion (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 844096	NM_020549.5(CHAT):c.350G>A (p.Arg117His)	CHAT (R117H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 128724	NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)	CHAT (A120T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 390992	NM_020549.5(CHAT):c.387T>C (p.Ser129=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia +1 more	GConflicting classifications of pathogenicity
Select item 1232442	NM_020549.5(CHAT):c.388-68G>C	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261335	NM_020549.5(CHAT):c.388-50C>T	CHAT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 279754	NM_020549.5(CHAT):c.406G>A (p.Val136Met)	CHAT (V136M +2 more)	Single nucleotide variant (missense variant)	Familial infantile myasthenia +2 more	GPathogenic/Likely pathogenic
Select item 969440	NM_020549.5(CHAT):c.452G>A (p.Arg151Gln)	CHAT (R151Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1099987	NM_020549.5(CHAT):c.494T>C (p.Ile165Thr)	CHAT (I165T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1253991	NM_020549.5(CHAT):c.579+37C>T	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681273	NM_020549.5(CHAT):c.579+102A>C	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214619	NM_020549.5(CHAT):c.579+240T>A	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243069	NM_020549.5(CHAT):c.580-248G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261337	NM_020549.5(CHAT):c.580-35G>A	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia +2 more	GBenign/Likely benign
Select item 570119	NM_020549.5(CHAT):c.580-5G>A	CHAT	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 430062	NM_020549.5(CHAT):c.605T>G (p.Met202Arg)	CHAT (M202R +2 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +2 more	GPathogenic/Likely pathogenic
Select item 421843	NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)	CHAT (R104P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1201397	NM_020549.5(CHAT):c.698+60C>T	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198390	NM_020549.5(CHAT):c.698+137C>T	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215632	NM_020549.5(CHAT):c.698+196A>G	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218716	NM_020549.5(CHAT):c.698+289G>T	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194265	NM_020549.5(CHAT):c.698+303C>A	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668072	NM_020549.5(CHAT):c.699-315A>G	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292444	NM_020549.5(CHAT):c.699-250G>T	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233096	NM_020549.5(CHAT):c.699-214_699-193del	CHAT	Deletion (intron variant)	not provided	GBenign
Select item 1249020	NM_020549.5(CHAT):c.699-190C>T	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526315	NM_020549.5(CHAT):c.699-169G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211979	NM_020549.5(CHAT):c.699-169G>T	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128725	NM_020549.5(CHAT):c.711C>G (p.Ser237Arg)	CHAT (S119R +2 more)	Single nucleotide variant (missense variant)	Familial infantile myasthenia +2 more	GBenign
Select item 128726	NM_020549.5(CHAT):c.727C>T (p.Leu243Phe)	CHAT (L125F +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 210707	NM_020549.5(CHAT):c.745C>G (p.Leu249Val)	CHAT (L131V +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1211226	NM_020549.5(CHAT):c.752+55T>A	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678346	NM_020549.5(CHAT):c.753-135A>C	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261338	NM_020549.5(CHAT):c.753-26C>T	CHAT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 461463	NM_020549.5(CHAT):c.789G>A (p.Leu263=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia +2 more	GBenign/Likely benign
Select item 261339	NM_020549.5(CHAT):c.896C>T (p.Pro299Leu)	CHAT (P181L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 128727	NM_020549.5(CHAT):c.903T>C (p.Pro301=)	CHAT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1194349	NM_020549.5(CHAT):c.933+61G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680208	NM_020549.5(CHAT):c.933+140G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309034	NM_020549.5(CHAT):c.933+195G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204063	NM_020549.5(CHAT):c.934-181C>T	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254796	NM_020549.5(CHAT):c.934-156C>T	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678349	NM_020549.5(CHAT):c.934-43G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369837	NM_020549.5(CHAT):c.944T>C (p.Leu315Ser)	CHAT (L197S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 461445	NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg)	CHAT (G357R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 422447	NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys)	CHAT (E245K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 261326	NM_020549.5(CHAT):c.1111+45G>A	CHAT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 678934	NM_020549.5(CHAT):c.1111+136C>A	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224920	NM_020549.5(CHAT):c.1112-83G>T	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681277	NM_020549.5(CHAT):c.1112-68G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218308	NM_020549.5(CHAT):c.1112-54G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128715	NM_020549.5(CHAT):c.1122C>T (p.Asn374=)	CHAT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 128716	NM_020549.5(CHAT):c.1131G>A (p.Ser377=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia +2 more	GBenign
Select item 261327	NM_020549.5(CHAT):c.1135G>C (p.Asp379His)	CHAT (D261H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 128717	NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn)	CHAT (D282N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 198893	NM_020549.5(CHAT):c.1248C>T (p.Asn416=)	CHAT	Single nucleotide variant (synonymous variant)	Familial infantile myasthenia +1 more	GConflicting classifications of pathogenicity
Select item 261328	NM_020549.5(CHAT):c.1281+16G>A	CHAT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 261329	NM_020549.5(CHAT):c.1281+47G>A	CHAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1262684	NM_020549.5(CHAT):c.1281+87G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242041	NM_020549.5(CHAT):c.1282-25G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252002	NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser)	CHAT (G316S +2 more)	Single nucleotide variant (missense variant)	Familial infantile myasthenia +2 more	GUncertain significance
Select item 1274784	NM_020549.5(CHAT):c.1382+109dup	CHAT	Duplication (intron variant)	not provided	GBenign
Select item 1175511	NM_020549.5(CHAT):c.1382+120AC[18]	CHAT	Microsatellite (intron variant)	not provided	GBenign
Select item 1327177	NM_020549.5(CHAT):c.1382+120AC[12]	CHAT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1293287	NM_020549.5(CHAT):c.1382+120AC[15]	CHAT	Microsatellite (intron variant)	not provided	GBenign
Select item 1253907	NM_020549.5(CHAT):c.1382+120AC[14]	CHAT	Microsatellite (intron variant)	not provided	GBenign
Select item 1228996	NM_020549.5(CHAT):c.1382+120AC[13]	CHAT	Microsatellite (intron variant)	not provided	GBenign
Select item 1216238	NM_020549.5(CHAT):c.1383-252C>G	CHAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175542	NM_020549.5(CHAT):c.1383-205G>A	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261330	NM_020549.5(CHAT):c.1383-42G>C	CHAT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 507792	NM_020549.5(CHAT):c.1511+11C>T	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia +1 more	GLikely benign
Select item 678350	NM_020549.5(CHAT):c.1511+153T>C	CHAT	Single nucleotide variant (intron variant)	not provided	GBenign

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