TOR1B[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 3328115	NM_014506.3(TOR1B):c.7C>T (p.Arg3Trp)	TOR1B (R3W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181306	NM_014506.3(TOR1B):c.64G>C (p.Val22Leu)	LOC130002768, TOR1B (V22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328114	NM_014506.3(TOR1B):c.134C>T (p.Ser45Phe)	LOC130002768, TOR1B (S45F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181301	NM_014506.3(TOR1B):c.142G>A (p.Asp48Asn)	LOC130002768, TOR1B (D48N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591985	NM_014506.3(TOR1B):c.185C>T (p.Pro62Leu)	TOR1B (P62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181302	NM_014506.3(TOR1B):c.193G>A (p.Ala65Thr)	TOR1B (A65T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325096	NM_014506.3(TOR1B):c.311C>T (p.Thr104Ile)	TOR1B (T104I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328116	NM_014506.3(TOR1B):c.341G>A (p.Gly114Asp)	TOR1B (G114D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227978	NM_014506.3(TOR1B):c.450G>T (p.Lys150Asn)	TOR1B (K150N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181303	NM_014506.3(TOR1B):c.476A>G (p.Gln159Arg)	TOR1B (Q159R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 770585	NM_014506.3(TOR1B):c.531C>T (p.Asp177=)	TOR1B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3181304	NM_014506.3(TOR1B):c.542A>C (p.Lys181Thr)	TOR1B (K181T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611835	NM_014506.3(TOR1B):c.551C>T (p.Pro184Leu)	TOR1B (P184L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181305	NM_014506.3(TOR1B):c.560T>C (p.Ile187Thr)	TOR1B (I187T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597148	NM_014506.3(TOR1B):c.580C>A (p.Leu194Ile)	TOR1B (L194I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2252507	NM_014506.3(TOR1B):c.592G>A (p.Glu198Lys)	TOR1B (E198K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361314	NM_014506.3(TOR1B):c.604G>A (p.Gly202Arg)	TOR1B (G202R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328112	NM_014506.3(TOR1B):c.671C>T (p.Thr224Met)	TOR1B (T224M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325492	NM_014506.3(TOR1B):c.679G>T (p.Asp227Tyr)	TOR1B (D227Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328113	NM_014506.3(TOR1B):c.757A>G (p.Asn253Asp)	TOR1B (N253D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2353824	NM_014506.3(TOR1B):c.758A>G (p.Asn253Ser)	TOR1B (N253S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181307	NM_014506.3(TOR1B):c.903A>T (p.Glu301Asp)	TOR1B (E301D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181308	NM_014506.3(TOR1B):c.916A>G (p.Arg306Gly)	TOR1B (R306G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491251	NM_014506.3(TOR1B):c.994C>T (p.Arg332Trp)	TOR1B (R332W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 1808280	GRCh37/hg19 9q34.11(chr9:132449937-132807448)x3	C9orf78, FNBP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 979879	GRCh37/hg19 9q34.11(chr9:132448018-132581300)x3	TOR1B, PTGES +2 more	Copy number gain	not provided	GUncertain significance
Select item 979878	GRCh37/hg19 9q34.11(chr9:132470092-133044256)x3	PRRX2, PTGES +7 more	Copy number gain	not provided	GUncertain significance
Select item 815299	GRCh37/hg19 9q34.11(chr9:132449936-132795093)x3	FNBP1, TOR1A +5 more	Copy number gain	not provided	GUncertain significance
Select item 687422	GRCh37/hg19 9q34.11(chr9:132183626-133431092)x3	ASB6, ASS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685514	GRCh37/hg19 9q34.11(chr9:132449921-132793004)x3	C9orf78, FNBP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 394945	GRCh37/hg19 9q34.11(chr9:132483021-132581179)x3	PRRX2, PTGES +2 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 68