ZBTB7A[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 2388271	NM_015898.4(ZBTB7A):c.1706G>T (p.Gly569Val)	ZBTB7A (G569V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284983	NM_015898.4(ZBTB7A):c.1663C>T (p.Arg555Trp)	ZBTB7A (R555W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879002	NM_015898.4(ZBTB7A):c.1648C>T (p.Pro550Ser)	ZBTB7A (P550S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3192186	NM_015898.4(ZBTB7A):c.1646G>T (p.Ser549Ile)	ZBTB7A (S549I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192185	NM_015898.4(ZBTB7A):c.1645A>T (p.Ser549Cys)	ZBTB7A (S549C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518837	NM_015898.4(ZBTB7A):c.1611C>A (p.His537Gln)	ZBTB7A (H537Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192184	NM_015898.4(ZBTB7A):c.1597G>A (p.Gly533Ser)	ZBTB7A (G533S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342835	NM_015898.4(ZBTB7A):c.1588del (p.Arg530fs)	ZBTB7A (R530fs)	Deletion (frameshift variant)	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	GPathogenic
Select item 1329684	NM_015898.4(ZBTB7A):c.1551_1584del (p.Pro521fs)	ZBTB7A (P521fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1697042	NM_015898.4(ZBTB7A):c.1555G>A (p.Gly519Ser)	ZBTB7A (G519S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1627039	NM_015898.4(ZBTB7A):c.1536G>A (p.Pro512=)	ZBTB7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2394446	NM_015898.4(ZBTB7A):c.1531A>C (p.Ser511Arg)	ZBTB7A (S511R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192183	NM_015898.4(ZBTB7A):c.1528C>G (p.Pro510Ala)	ZBTB7A (P510A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225243	NM_015898.4(ZBTB7A):c.1526A>C (p.Asp509Ala)	ZBTB7A (D509A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210986	NM_015898.4(ZBTB7A):c.1525G>A (p.Asp509Asn)	ZBTB7A (D509N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249773	NM_015898.4(ZBTB7A):c.1508T>G (p.Val503Gly)	ZBTB7A (V503G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1700180	NM_015898.4(ZBTB7A):c.1466_1496del (p.Gly489fs)	ZBTB7A (G489fs)	Deletion (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1702679	NM_015898.4(ZBTB7A):c.1354G>A (p.Asp452Asn)	ZBTB7A (D452N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2475779	NM_015898.4(ZBTB7A):c.1325A>G (p.Gln442Arg)	ZBTB7A (Q442R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630230	NM_015898.4(ZBTB7A):c.1288del (p.Arg430fs)	ZBTB7A (R430fs)	Deletion (frameshift variant)	ZBTB7A-related disorder	GUncertain significance
Select item 2649026	NM_015898.4(ZBTB7A):c.1257C>T (p.Phe419=)	ZBTB7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1329634	NM_015898.4(ZBTB7A):c.1249G>T (p.Val417Phe)	ZBTB7A (V417F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329745	NM_015898.4(ZBTB7A):c.1183G>C (p.Gly395Arg)	ZBTB7A (G395R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342832	NM_015898.4(ZBTB7A):c.1152C>G (p.Cys384Trp)	ZBTB7A (C384W)	Single nucleotide variant (missense variant)	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	GPathogenic
Select item 1342837	NM_015898.4(ZBTB7A):c.1108C>T (p.Gln370Ter)	ZBTB7A (Q370*)	Single nucleotide variant (nonsense)	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	GPathogenic
Select item 3234353	NM_015898.4(ZBTB7A):c.1066T>C (p.Phe356Leu)	ZBTB7A (F356L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2329143	NM_015898.4(ZBTB7A):c.940C>A (p.Leu314Met)	ZBTB7A (L314M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251608	NM_015898.4(ZBTB7A):c.919G>T (p.Asp307Tyr)	ZBTB7A (D307Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192189	NM_015898.4(ZBTB7A):c.908G>C (p.Gly303Ala)	ZBTB7A (G303A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405908	NM_015898.4(ZBTB7A):c.895G>A (p.Gly299Arg)	ZBTB7A (G299R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229465	NM_015898.4(ZBTB7A):c.850T>G (p.Ser284Ala)	ZBTB7A (S284A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406411	NM_015898.4(ZBTB7A):c.844T>G (p.Ser282Ala)	ZBTB7A (S282A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3192188	NM_015898.4(ZBTB7A):c.841G>A (p.Ala281Thr)	ZBTB7A (A281T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2572225	NM_015898.4(ZBTB7A):c.808G>A (p.Gly270Ser)	ZBTB7A (G270S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691639	NM_015898.4(ZBTB7A):c.807del (p.Asn269fs)	ZBTB7A (N269fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2242277	NM_015898.4(ZBTB7A):c.721C>T (p.Pro241Ser)	ZBTB7A (P241S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2571911	NM_015898.4(ZBTB7A):c.692del (p.Thr231fs)	ZBTB7A (T231fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2232327	NM_015898.4(ZBTB7A):c.692C>T (p.Thr231Met)	ZBTB7A (T231M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405601	NM_015898.4(ZBTB7A):c.691A>C (p.Thr231Pro)	ZBTB7A (T231P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1693512	NM_015898.4(ZBTB7A):c.642dup (p.Asn215fs)	ZBTB7A (N215fs)	Duplication (frameshift variant)	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	GPathogenic
Select item 3029859	NM_015898.4(ZBTB7A):c.582C>G (p.Asp194Glu)	ZBTB7A (D194E)	Single nucleotide variant (missense variant)	ZBTB7A-related disorder	GUncertain significance
Select item 3233603	NM_015898.4(ZBTB7A):c.568G>T (p.Ala190Ser)	ZBTB7A (A190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444215	NM_015898.4(ZBTB7A):c.522dup (p.Ala175fs)	ZBTB7A (A175fs)	Duplication (frameshift variant)	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	GLikely pathogenic
Select item 3192187	NM_015898.4(ZBTB7A):c.522del (p.Ala175fs)	ZBTB7A (A175fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1699801	NM_015898.4(ZBTB7A):c.499A>G (p.Asn167Asp)	ZBTB7A (N167D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554222	NM_015898.4(ZBTB7A):c.498C>A (p.Ser166Arg)	ZBTB7A (S166R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396283	NM_015898.4(ZBTB7A):c.421G>A (p.Gly141Arg)	ZBTB7A (G141R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2570285	NM_015898.4(ZBTB7A):c.406G>C (p.Ala136Pro)	ZBTB7A (A136P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2288063	NM_015898.4(ZBTB7A):c.390G>C (p.Gln130His)	ZBTB7A (Q130H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497784	NM_015898.4(ZBTB7A):c.373G>A (p.Asp125Asn)	ZBTB7A (D125N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871903	NM_015898.4(ZBTB7A):c.338T>A (p.Leu113Gln)	ZBTB7A (L113Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580495	NM_015898.4(ZBTB7A):c.299G>A (p.Ser100Asn)	ZBTB7A (S100N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342771	NM_015898.4(ZBTB7A):c.273_281delinsA (p.Phe91fs)	ZBTB7A (F91fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1342836	NM_015898.4(ZBTB7A):c.167_168delinsTT (p.Ser56Ile)	ZBTB7A (S56I)	Indel (missense variant)	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	GPathogenic
Select item 2632285	NM_015898.4(ZBTB7A):c.26T>G (p.Ile9Ser)	ZBTB7A (I9S)	Single nucleotide variant (missense variant)	ZBTB7A-related disorder	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ARID3A, ARRDC5 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340292	GRCh37/hg19 19p13.3(chr19:3788725-4225547)x1	ANKRD24, ATCAY +10 more	Copy number loss	not provided	GUncertain significance
Select item 1047892	GRCh37/hg19 19p13.3(chr19:3976203-4345430)	ANKRD24, CREB3L3 +12 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395655	GRCh37/hg19 19p13.3(chr19:4012916-4047248)x3	PIAS4, ZBTB7A	Copy number gain	See cases	GUncertain significance

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Items: 82