"GeneDx"[submitter] AND "KPNA3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57643	GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1	LOC126861771, LOC126861772 +215 more	Copy number loss	See cases	GPathogenic
Select item 2507340	NM_002267.4(KPNA3):c.1081G>A (p.Val361Ile)	KPNA3 (V361I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371166	NM_002267.4(KPNA3):c.832C>G (p.Gln278Glu)	KPNA3 (Q278E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371463	NM_002267.4(KPNA3):c.469+1G>A	KPNA3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3369044	NM_002267.4(KPNA3):c.217C>G (p.Leu73Val)	KPNA3 (L73V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365501	NM_002267.4(KPNA3):c.180del (p.Asp61fs)	KPNA3 (D61fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

ClinVar