17170[HGNC] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 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	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 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 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
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 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 150008	GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1	CERCAM, COQ4 +70 more	Copy number loss	See cases	GPathogenic
Select item 2246833	NM_015679.3(TRUB2):c.946T>A (p.Ser316Thr)	TRUB2 (S316T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597708	NM_015679.3(TRUB2):c.929C>T (p.Pro310Leu)	TRUB2 (P310L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776767	NM_015679.3(TRUB2):c.903G>A (p.Gly301=)	TRUB2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2537479	NM_015679.3(TRUB2):c.818A>T (p.Gln273Leu)	TRUB2 (Q273L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337435	NM_015679.3(TRUB2):c.719A>G (p.His240Arg)	TRUB2 (H136R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325769	NM_015679.3(TRUB2):c.719A>C (p.His240Pro)	TRUB2 (H136P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407328	NM_015679.3(TRUB2):c.706C>T (p.Arg236Trp)	TRUB2 (R192W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620947	NM_015679.3(TRUB2):c.607A>G (p.Lys203Glu)	TRUB2 (K147E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537990	NM_015679.3(TRUB2):c.596G>A (p.Arg199Gln)	TRUB2 (R143Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262278	NM_015679.3(TRUB2):c.595C>T (p.Arg199Trp)	TRUB2 (R155W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489755	NM_015679.3(TRUB2):c.497C>T (p.Ala166Val)	TRUB2 (A110V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600372	NM_015679.3(TRUB2):c.452C>A (p.Thr151Lys)	TRUB2 (T107K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600824	NM_015679.3(TRUB2):c.332A>G (p.His111Arg)	TRUB2 (H7R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311628	NM_015679.3(TRUB2):c.284A>G (p.His95Arg)	TRUB2 (H51R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494136	NM_015679.3(TRUB2):c.269A>G (p.Lys90Arg)	TRUB2 (K90R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334388	NM_015679.3(TRUB2):c.258C>G (p.Phe86Leu)	TRUB2 (F86L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375345	NM_015679.3(TRUB2):c.230A>G (p.Asn77Ser)	TRUB2 (N21S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2294761	NM_015679.3(TRUB2):c.152G>A (p.Arg51His)	TRUB2 (R51H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2323188	NM_015679.3(TRUB2):c.151C>T (p.Arg51Cys)	TRUB2 (R51C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2264343	NM_015679.3(TRUB2):c.112C>T (p.Leu38Phe)	TRUB2 (L38F)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1194820	NM_015679.3(TRUB2):c.60G>A (p.Gly20=)	COQ4, LOC130002703 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 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 1341013	GRCh37/hg19 9q34.11(chr9:130948822-131227396)x3	CERCAM, CIZ1 +9 more	Copy number gain	not provided	GUncertain significance
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 984763	GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1	COQ4, DNM1 +33 more	Copy number loss	Infantile epilepsy syndrome	GPathogenic
Select item 831938	NC_000009.12:g.(?_127815672)_(128541180_?)del	AK1, BBLN +22 more	Deletion	not provided	GPathogenic
Select item 815297	GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1	ENDOG, SET +31 more	Copy number loss	not provided	GPathogenic
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 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)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +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 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 57