ZBTB7A[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +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	LOC130063254, LOC130063255 +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 3350755	NM_015898.4(ZBTB7A):c.1686T>G (p.Gly562=)	ZBTB7A	Single nucleotide variant (synonymous variant)	ZBTB7A-related disorder	GLikely benign
Select item 3333995	NM_015898.4(ZBTB7A):c.1685G>A (p.Gly562Asp)	ZBTB7A (G562D)	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 3333994	NM_015898.4(ZBTB7A):c.1571C>G (p.Pro524Arg)	ZBTB7A (P524R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3251310	NM_015898.4(ZBTB7A):c.1545C>A (p.Thr515=)	ZBTB7A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1627039	NM_015898.4(ZBTB7A):c.1536G>A (p.Pro512=)	ZBTB7A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely 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 3251151	NM_015898.4(ZBTB7A):c.1477G>T (p.Val493Phe)	ZBTB7A (V493F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3333993	NM_015898.4(ZBTB7A):c.1415G>C (p.Cys472Ser)	ZBTB7A (C472S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3371002	NM_015898.4(ZBTB7A):c.1385del (p.Gly462fs)	ZBTB7A (G462fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1702679	NM_015898.4(ZBTB7A):c.1354G>A (p.Asp452Asn)	ZBTB7A (D452N)	Single nucleotide variant (missense variant)	not provided +1 more	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 3366079	NM_015898.4(ZBTB7A):c.1129C>T (p.Arg377Ter)	ZBTB7A (R377*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 3376455	NM_015898.4(ZBTB7A):c.826G>A (p.Gly276Arg)	ZBTB7A (G276R)	Single nucleotide variant (missense variant)	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	GUncertain significance
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	GLikely pathogenic
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 3255094	NM_015898.4(ZBTB7A):c.674dup (p.Ala226fs)	ZBTB7A (A226fs)	Duplication (frameshift variant)	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	GPathogenic
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 3257478	NM_015898.4(ZBTB7A):c.459C>A (p.Asn153Lys)	ZBTB7A (N153K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242446	NM_015898.4(ZBTB7A):c.424C>T (p.Gln142Ter)	ZBTB7A (Q142*)	Single nucleotide variant (nonsense)	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	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 3373612	NM_015898.4(ZBTB7A):c.325A>G (p.Ser109Gly)	ZBTB7A (S109G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3374812	NM_015898.4(ZBTB7A):c.313G>A (p.Gly105Ser)	ZBTB7A (G105S)	Single nucleotide variant (missense variant)	not specified	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 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3242666	NC_000019.9:g.(?_3917720)_(4818389_?)dup	ANKRD24, ATCAY +27 more	Duplication	not provided	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	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +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)	PIAS4, SHD +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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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
Select item 3359129	NM_015898.4(ZBTB7A):c.98del (p.Leu33fs)	ZBTB7A (L33fs)	Deletion (frameshift variant)	Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 99