"GeneDx"[submitter] AND "FOXA2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 1300560	NM_021784.5(FOXA2):c.1206A>G (p.Gln402=)	FOXA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 453119	NM_021784.5(FOXA2):c.859del (p.Gln287fs)	FOXA2 (Q287fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1710896	NM_021784.5(FOXA2):c.829G>A (p.Gly277Ser)	FOXA2 (G271S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810106	NM_021784.5(FOXA2):c.124G>C (p.Gly42Arg)	FOXA2 (G36R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446099	NM_021784.5(FOXA2):c.96del (p.Ser33fs)	FOXA2 (S27fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2443405	NM_021784.5(FOXA2):c.86_87dup (p.Gly30fs)	FOXA2 (G24fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic
Select item 3360090	NM_021784.5(FOXA2):c.191T>C (p.Met64Thr)	FOXA2 (M58T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance