ClinVar for Gene (Select 23099) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333957	NM_014007.4(ZBTB43):c.1085C>A (p.Ser362Tyr)	ZBTB43 (S362Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333956	NM_014007.4(ZBTB43):c.133C>T (p.Arg45Trp)	ZBTB43 (R45W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192094	NM_014007.4(ZBTB43):c.986G>A (p.Arg329Lys)	ZBTB43 (R329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192093	NM_014007.4(ZBTB43):c.799C>T (p.His267Tyr)	ZBTB43 (H267Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192092	NM_014007.4(ZBTB43):c.777T>G (p.Asp259Glu)	ZBTB43 (D259E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192091	NM_014007.4(ZBTB43):c.685C>T (p.Arg229Trp)	ZBTB43 (R229W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192090	NM_014007.4(ZBTB43):c.275G>A (p.Arg92His)	ZBTB43 (R92H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2568671	NM_014007.4(ZBTB43):c.800A>G (p.His267Arg)	ZBTB43 (H267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545979	NM_014007.4(ZBTB43):c.854C>T (p.Ser285Leu)	ZBTB43 (S285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536394	NM_014007.4(ZBTB43):c.1060G>C (p.Val354Leu)	ZBTB43 (V354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533690	NM_014007.4(ZBTB43):c.166C>T (p.Pro56Ser)	ZBTB43 (P56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529541	NM_014007.4(ZBTB43):c.223G>A (p.Val75Met)	ZBTB43 (V75M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495193	NM_014007.4(ZBTB43):c.880G>A (p.Gly294Arg)	ZBTB43 (G294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470352	NM_014007.4(ZBTB43):c.113T>C (p.Val38Ala)	ZBTB43 (V38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461243	NM_014007.4(ZBTB43):c.793G>A (p.Asp265Asn)	ZBTB43 (D265N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393801	NM_014007.4(ZBTB43):c.1004T>C (p.Ile335Thr)	ZBTB43 (I335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372500	NM_014007.4(ZBTB43):c.745G>A (p.Glu249Lys)	ZBTB43 (E249K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357901	NM_014007.4(ZBTB43):c.274C>T (p.Arg92Cys)	ZBTB43 (R92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351739	NM_014007.4(ZBTB43):c.613C>T (p.Arg205Cys)	ZBTB43 (R205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330750	NM_014007.4(ZBTB43):c.661G>A (p.Asp221Asn)	ZBTB43 (D221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312757	NM_014007.4(ZBTB43):c.688C>A (p.Pro230Thr)	ZBTB43 (P230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308717	NM_014007.4(ZBTB43):c.692T>C (p.Met231Thr)	ZBTB43 (M231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261895	NM_014007.4(ZBTB43):c.1030G>A (p.Ala344Thr)	ZBTB43 (A344T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246355	NM_014007.4(ZBTB43):c.539G>A (p.Ser180Asn)	ZBTB43 (S180N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245762	NM_014007.4(ZBTB43):c.583C>G (p.Leu195Val)	ZBTB43 (L195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224823	NM_014007.4(ZBTB43):c.317C>T (p.Ala106Val)	ZBTB43 (A106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210905	NM_014007.4(ZBTB43):c.823A>C (p.Thr275Pro)	ZBTB43 (T275P)	Single nucleotide variant (missense variant)	not specified	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	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	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)	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 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, ANGPTL2 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	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 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
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 563611	GRCh37/hg19 9q33.3(chr9:129416212-129644627)x3	ZBTB34, ZBTB43 +1 more	Copy number gain	not provided	GUncertain significance
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 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +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 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 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)	LOC130002189, LOC130002190 +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 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	LOC130003132, LOC130003133 +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	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 7012	NC_000009.12:g.(126507040_126613928)_(126701032_126804072)del	LOC130002616, LMX1B +13 more	Deletion	Nail-patella syndrome	GPathogenic

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Links from Gene

Items: 61