ZBTB34[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 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 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 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 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +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 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 2267464	NM_001099270.4(ZBTB34):c.416A>C (p.Asp139Ala)	ZBTB34 (D139A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591209	NM_001099270.4(ZBTB34):c.479T>C (p.Phe160Ser)	ZBTB34 (F160S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224196	NM_001099270.4(ZBTB34):c.526C>T (p.Arg176Trp)	ZBTB34 (R176W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192015	NM_001099270.4(ZBTB34):c.563C>T (p.Thr188Met)	ZBTB34 (T198M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325197	NM_001099270.4(ZBTB34):c.593T>C (p.Leu198Ser)	ZBTB34 (L208S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340612	NM_001099270.4(ZBTB34):c.821T>C (p.Val274Ala)	ZBTB34 (V284A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398210	NM_001099270.4(ZBTB34):c.886C>T (p.Pro296Ser)	ZBTB34 (P296S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329576	NM_001099270.4(ZBTB34):c.967C>T (p.Arg323Cys)	ZBTB34 (R323C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192016	NM_001099270.4(ZBTB34):c.968G>A (p.Arg323His)	ZBTB34 (R323H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192017	NM_001099270.4(ZBTB34):c.970G>T (p.Ala324Ser)	ZBTB34 (A324S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192018	NM_001099270.4(ZBTB34):c.974G>A (p.Arg325His)	ZBTB34 (R325H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192008	NM_001099270.4(ZBTB34):c.1042G>A (p.Glu348Lys)	ZBTB34 (E348K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192009	NM_001099270.4(ZBTB34):c.1060C>T (p.Pro354Ser)	ZBTB34 (P354S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532740	NM_001099270.4(ZBTB34):c.1087A>G (p.Arg363Gly)	ZBTB34 (R373G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192010	NM_001099270.4(ZBTB34):c.1088G>A (p.Arg363Lys)	ZBTB34 (R363K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480318	NM_001099270.4(ZBTB34):c.1090A>C (p.Ser364Arg)	ZBTB34 (S364R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216394	NM_001099270.4(ZBTB34):c.1094C>G (p.Ala365Gly)	ZBTB34 (A365G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192012	NM_001099270.4(ZBTB34):c.1112C>A (p.Pro371Gln)	ZBTB34 (P381Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617325	NM_001099270.4(ZBTB34):c.1180C>T (p.His394Tyr)	ZBTB34 (H394Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247039	NM_001099270.4(ZBTB34):c.1208C>A (p.Pro403His)	ZBTB34 (P403H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312652	NM_001099270.4(ZBTB34):c.1211T>A (p.Phe404Tyr)	ZBTB34 (F404Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192013	NM_001099270.4(ZBTB34):c.1423G>A (p.Val475Met)	ZBTB34 (V485M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192014	NM_001099270.4(ZBTB34):c.1484A>G (p.Glu495Gly)	ZBTB34 (E495G +1 more)	Single nucleotide variant (missense variant)	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 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 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 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 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	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 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)	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

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Items: 56