"GeneDx"[submitter] AND "ZBTB7A"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
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 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 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 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 3366079	NM_015898.4(ZBTB7A):c.1129C>T (p.Arg377Ter)	ZBTB7A (R377*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2571911	NM_015898.4(ZBTB7A):c.692del (p.Thr231fs)	ZBTB7A (T231fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 2497784	NM_015898.4(ZBTB7A):c.373G>A (p.Asp125Asn)	ZBTB7A (D125N)	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 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