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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 58336	GRCh38/hg38 14q32.13-32.2(chr14:95787358-96453757)x3	AK7, ATG2B +20 more	Copy number gain	See cases	GUncertain significance
Select item 1278620	NC_000014.9:g.96363661G>A	ATG2B, GSKIP +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270285	NM_016472.5(GSKIP):c.-1-107T>C	GSKIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293844	NM_016472.5(GSKIP):c.-1-5dup	GSKIP	Duplication (intron variant)	not provided	GBenign
Select item 1238084	NM_016472.5(GSKIP):c.258+57A>G	GSKIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225936	NM_016472.5(GSKIP):c.*50T>C	GSKIP	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

ClinVar