"GeneDx"[submitter] AND "ZBTB47"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369150	NM_145166.4(ZBTB47):c.206A>G (p.Gln69Arg)	ZBTB47 (Q69R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366083	NM_145166.4(ZBTB47):c.464A>C (p.Tyr155Ser)	ZBTB47 (Y155S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371470	NM_145166.4(ZBTB47):c.769G>A (p.Ala257Thr)	ZBTB47 (A257T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326515	NM_145166.4(ZBTB47):c.783A>G (p.Pro261=)	ZBTB47	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3369751	NM_145166.4(ZBTB47):c.818A>G (p.Gln273Arg)	ZBTB47 (Q273R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723211	NM_145166.4(ZBTB47):c.1429G>A (p.Glu477Lys)	ZBTB47 (E477K +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2581776	NM_145166.4(ZBTB47):c.1493C>T (p.Ala498Val)	ZBTB47 (A498V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365716	NM_145166.4(ZBTB47):c.2008C>G (p.Arg670Gly)	ZBTB47 (R670G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581778	NM_145166.4(ZBTB47):c.2232_2233insAACTAGCTGCCAACAACTAGCT (p.Ala745delinsAsnTer)	ZBTB47	Insertion (nonsense)	not provided	GUncertain significance
Select item 3367933	NM_145166.4(ZBTB47):c.2243A>G (p.Ter748Trp)	ZBTB47	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic