"GeneDx"[submitter] AND "SERPINF2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 256836	NM_000934.4(SERPINF2):c.5C>T (p.Ala2Val)	SERPINF2 (A2V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1282784	NM_000934.4(SERPINF2):c.367+64A>G	SERPINF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237847	NM_000934.4(SERPINF2):c.368-145C>T	SERPINF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226374	NM_000934.4(SERPINF2):c.715+212C>T	SERPINF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281687	NM_000934.4(SERPINF2):c.716-112A>G	SERPINF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280069	NM_000934.4(SERPINF2):c.1063+131G>A	SERPINF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291982	NM_000934.4(SERPINF2):c.*71G>T	SERPINF2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253733	GRCh37/hg19 17p13.3(chr17:1409783-1857577)x1	INPP5K, MIR22 +12 more	Copy number loss	See cases	GUncertain significance
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253440	GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1	MIR212, SCARF1 +28 more	Copy number loss	See cases	GPathogenic