389792[Gene ID] - 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 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	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 149067	GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1	CRAT, DOLK +72 more	Copy number loss	See cases	GUncertain significance
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	MIR3621, MIR3689A +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 2260800	NM_203434.3(IER5L):c.1139C>A (p.Pro380Gln)	IER5L (P380Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393922	NM_203434.3(IER5L):c.1133C>T (p.Pro378Leu)	IER5L (P378L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609921	NM_203434.3(IER5L):c.961C>G (p.Leu321Val)	IER5L (L321V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395760	NM_203434.3(IER5L):c.959G>A (p.Gly320Glu)	IER5L (G320E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2408838	NM_203434.3(IER5L):c.942C>G (p.Asp314Glu)	IER5L (D314E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377167	NM_203434.3(IER5L):c.847C>T (p.Pro283Ser)	IER5L (P283S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774207	NM_203434.3(IER5L):c.780C>T (p.Asp260=)	IER5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2380966	NM_203434.3(IER5L):c.745C>T (p.His249Tyr)	IER5L (H249Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303197	NM_203434.3(IER5L):c.728C>T (p.Pro243Leu)	IER5L (P243L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555803	NM_203434.3(IER5L):c.698C>A (p.Pro233His)	IER5L (P233H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778454	NM_203434.3(IER5L):c.681G>T (p.Pro227=)	IER5L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2512536	NM_203434.3(IER5L):c.665C>A (p.Ser222Tyr)	IER5L (S222Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332881	NM_203434.3(IER5L):c.635C>G (p.Pro212Arg)	IER5L (P212R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495050	NM_203434.3(IER5L):c.623G>A (p.Cys208Tyr)	IER5L (C208Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363881	NM_203434.3(IER5L):c.529C>T (p.Pro177Ser)	IER5L, LOC130002744 (P177S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515111	NM_203434.3(IER5L):c.512G>T (p.Arg171Leu)	IER5L, LOC130002744 (R171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391108	NM_203434.3(IER5L):c.395C>T (p.Pro132Leu)	IER5L, LOC130002744 (P132L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321084	NM_203434.3(IER5L):c.26G>A (p.Ser9Asn)	IER5L (S9N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337004	NM_203434.3(IER5L):c.10G>A (p.Ala4Thr)	IER5L (A4T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684588	GRCh37/hg19 9q34.11(chr9:131883676-132328024)x3	IER5L, LINC02913 +1 more	Copy number gain	not provided	GUncertain significance
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 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)	OR1L4, PTRH1 +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 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 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)	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