THOC5[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 59075	GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1	AP1B1, C22orf31 +34 more	Copy number loss	See cases	GPathogenic
Select item 57489	GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3	AP1B1, ASCC2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2365172	NM_003678.5(THOC5):c.1997G>A (p.Ser666Asn)	THOC5 (S666N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790774	NM_003678.5(THOC5):c.1782C>T (p.Asn594=)	THOC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3177093	NM_003678.5(THOC5):c.1770A>T (p.Lys590Asn)	THOC5 (K590N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539011	NM_003678.5(THOC5):c.1642A>G (p.Thr548Ala)	THOC5 (T548A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782635	NM_003678.5(THOC5):c.1567G>A (p.Val523Met)	THOC5 (V523M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3177092	NM_003678.5(THOC5):c.1456C>T (p.Arg486Cys)	THOC5 (R486C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177091	NM_003678.5(THOC5):c.1426A>G (p.Met476Val)	THOC5 (M476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265317	NM_003678.5(THOC5):c.1409G>T (p.Ser470Ile)	THOC5 (S470I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341291	NM_003678.5(THOC5):c.1397C>T (p.Ser466Leu)	THOC5 (S466L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591390	NM_003678.5(THOC5):c.1324T>A (p.Leu442Met)	THOC5 (L442M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406644	NM_003678.5(THOC5):c.1172C>T (p.Ala391Val)	THOC5 (A391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508837	NM_003678.5(THOC5):c.1154T>C (p.Leu385Pro)	THOC5 (L385P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308319	NM_003678.5(THOC5):c.1116C>G (p.Ile372Met)	THOC5 (I372M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509756	NM_003678.5(THOC5):c.1054C>G (p.Leu352Val)	THOC5 (L352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522536	NM_003678.5(THOC5):c.1015G>C (p.Glu339Gln)	THOC5 (E339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616025	NM_003678.5(THOC5):c.946G>C (p.Ala316Pro)	THOC5 (A316P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403373	NM_003678.5(THOC5):c.871G>A (p.Glu291Lys)	THOC5 (E291K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177094	NM_003678.5(THOC5):c.800C>T (p.Pro267Leu)	THOC5 (P267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508339	NM_003678.5(THOC5):c.764A>G (p.His255Arg)	THOC5 (H255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491075	NM_003678.5(THOC5):c.760G>A (p.Ala254Thr)	THOC5 (A254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520195	NM_003678.5(THOC5):c.538A>G (p.Met180Val)	THOC5 (M180V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541690	NM_003678.5(THOC5):c.474T>A (p.Asp158Glu)	THOC5 (D158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247149	NC_000022.10:g.(?_29621477)_(30035211_?)del	AP1B1, EMID1 +10 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 3247093	NC_000022.10:g.(?_29083885)_(30090791_?)del	AP1B1, C22orf31 +17 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	KREMEN1, NEFH +71 more	Duplication	not provided	GUncertain significance
Select item 1076756	NC_000022.10:g.(?_29105984)_(30337586_?)del	AP1B1, ASCC2 +22 more	Deletion	Familial cancer of breast	GPathogenic
Select item 1076222	NC_000022.10:g.(?_29083885)_(30337586_?)del	CABP7, CCDC117 +22 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979602	GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1	AP1B1, ASCC2 +24 more	Copy number loss	not provided	GPathogenic
Select item 832675	NC_000022.10:g.(?_29083875)_(30090801_?)del	ZNRF3, CCDC117 +17 more	Deletion	Familial cancer of breast	GPathogenic
Select item 685732	GRCh37/hg19 22q12.2(chr22:29865041-29959633)x3	NEFH, NIPSNAP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 52