ClinVar for Gene (Select 5090) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2604744	NM_006195.6(PBX3):c.1286A>G (p.His429Arg)	PBX3 (H354R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2590815	NM_006195.6(PBX3):c.406G>A (p.Ala136Thr)	PBX3 (A136T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556464	NM_006195.6(PBX3):c.166A>G (p.Ile56Val)	LOC130002608, PBX3 (I56V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539603	NM_006195.6(PBX3):c.1139A>G (p.His380Arg)	PBX3 (H380R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2538579	NM_006195.6(PBX3):c.221A>G (p.His74Arg)	PBX3 (H74R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2488748	NM_006195.6(PBX3):c.236C>T (p.Ala79Val)	PBX3 (A4V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2430149	NM_006195.6(PBX3):c.273del (p.Gly92fs)	PBX3 (G17fs +1 more)	Deletion (frameshift variant +1 more)	X-linked cone-rod dystrophy	GLikely pathogenic
Select item 2430148	NM_006195.6(PBX3):c.946_947insTA (p.Ala316fs)	PBX3 (A241fs +1 more)	Insertion (frameshift variant +1 more)	X-linked cone-rod dystrophy	GLikely pathogenic
Select item 2430147	NM_006195.6(PBX3):c.945dup (p.Ala316fs)	PBX3 (A241fs +1 more)	Duplication (frameshift variant +1 more)	X-linked cone-rod dystrophy	GLikely pathogenic
Select item 2430143	NM_006195.6(PBX3):c.797A>C (p.Glu266Ala)	PBX3 (E191A +1 more)	Single nucleotide variant (missense variant +1 more)	X-linked cone-rod dystrophy	GUncertain significance
Select item 2390990	NM_006195.6(PBX3):c.236C>G (p.Ala79Gly)	PBX3 (A4G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370763	NM_006195.6(PBX3):c.389C>T (p.Ala130Val)	PBX3 (A130V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276270	NM_006195.6(PBX3):c.1289C>T (p.Ser430Leu)	PBX3 (S430L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2258315	NM_006195.6(PBX3):c.572C>T (p.Thr191Ile)	PBX3 (T116I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255037	NM_006195.6(PBX3):c.1102G>A (p.Gly368Arg)	PBX3 (G293R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2215890	NM_006195.6(PBX3):c.1064A>G (p.Gln355Arg)	PBX3 (Q376R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2215765	NM_006195.6(PBX3):c.1136G>A (p.Arg379His)	PBX3 (R379H +2 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	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 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 1340239	GRCh37/hg19 9q33.3(chr9:128294099-128534814)x3	MAPKAP1, PBX3	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 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 748247	NM_006195.6(PBX3):c.1123-7C>A	PBX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +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 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	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 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	ABCA2, ABL1 +1272 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 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 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 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

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Links from Gene

Items: 48