ClinVar for Gene (Select 27433) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31 +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3181318	NM_001085347.3(TOR2A):c.958T>C (p.Phe320Leu)	TOR2A (F320L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181317	NM_001085347.3(TOR2A):c.801C>T (p.His267=)	TOR2A (R63C +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3181315	NM_001085347.3(TOR2A):c.679C>G (p.Leu227Val)	TOR2A (L227V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181314	NM_001085347.3(TOR2A):c.608A>C (p.Lys203Thr)	TOR2A (K41T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181313	NM_001085347.3(TOR2A):c.376G>A (p.Val126Ile)	TOR2A (V126I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181312	NM_001085347.3(TOR2A):c.362A>G (p.His121Arg)	TOR2A (H121R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181311	NM_001085347.3(TOR2A):c.356G>A (p.Arg119His)	TOR2A (R119H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3181310	NM_001085347.3(TOR2A):c.193C>A (p.Leu65Met)	TOR2A (L65M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181309	NM_001085347.3(TOR2A):c.173A>G (p.Gln58Arg)	TOR2A (Q58R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2659512	NM_001085347.3(TOR2A):c.593+160G>A	TOR2A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2592214	NM_001085347.3(TOR2A):c.765C>T (p.Asp255=)	TOR2A (R213C +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2568799	NM_001085347.3(TOR2A):c.766G>A (p.Ala256Thr)	TOR2A (A256T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520688	NM_001085347.3(TOR2A):c.423T>A (p.Asp141Glu)	TOR2A (D141E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517156	NM_001085347.3(TOR2A):c.805C>T (p.Arg269Trp)	TOR2A (R269W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471104	NM_001085347.3(TOR2A):c.338G>A (p.Gly113Asp)	TOR2A (G113D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456206	NM_001085347.3(TOR2A):c.697C>T (p.Arg233Cys)	TOR2A (R233C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2409902	NM_001085347.3(TOR2A):c.463C>T (p.Arg155Cys)	TOR2A (P66L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366020	NM_001085347.3(TOR2A):c.785C>G (p.Pro262Arg)	TOR2A (P262R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350483	NM_001085347.3(TOR2A):c.646C>T (p.Arg216Trp)	TOR2A (R54W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338327	NM_001085347.3(TOR2A):c.194T>C (p.Leu65Pro)	TOR2A (L65P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323957	NM_001085347.3(TOR2A):c.553T>C (p.Tyr185His)	TOR2A (Y185H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276457	NM_001085347.3(TOR2A):c.737C>T (p.Ser246Leu)	TOR2A (S84L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239204	NM_001085347.3(TOR2A):c.734A>G (p.Asn245Ser)	TOR2A (N245S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226188	NM_001085347.3(TOR2A):c.247C>T (p.Pro83Ser)	TOR2A (P83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223199	NM_001085347.3(TOR2A):c.925G>A (p.Gly309Ser)	TOR2A (G309S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220445	NM_001085347.3(TOR2A):c.656G>C (p.Arg219Pro)	TOR2A (R219P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209955	NM_001085347.3(TOR2A):c.62T>C (p.Val21Ala)	LOC130002656, TOR2A (V21A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207923	NM_001085347.3(TOR2A):c.937G>A (p.Val313Met)	TOR2A (V151M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527563	GRCh37/hg19 9q34.11(chr9:130392953-130526044)	CFAP157, PTRH1 +4 more	Copy number loss	not specified	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527561	GRCh37/hg19 9q34.11(chr9:130306022-130522616)	CFAP157, NIBAN2 +5 more	Copy number loss	not specified	GPathogenic
Select item 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1457478	NC_000009.11:g.(?_130216807)_(130953136_?)del	AK1, BBLN +22 more	Deletion	Congenital muscular dystrophy with intellectual disability and severe epilepsy	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 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, EEIG1 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 984763	GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1	COQ4, DNM1 +33 more	Copy number loss	Infantile epilepsy syndrome	GPathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 723314	NM_001085347.3(TOR2A):c.907C>A (p.Gln303Lys)	TOR2A (Q141K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC130002656, LOC130002657 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002653, LOC130002654 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 625638	GRCh37/hg19 9q34.11(chr9:130335766-130517907)	CFAP157, NIBAN2 +5 more	Copy number loss	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +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	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 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 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 70