"GeneDx"[submitter] AND "GK-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224923	NM_001205019.2(GK):c.748-22T>C	GK, GK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1240842	NM_001205019.2(GK):c.784-79_784-78insTAAA	GK, GK-AS1	Insertion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1287528	NM_001205019.2(GK):c.784-78_784-75dup	GK, GK-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1205628	NM_001205019.2(GK):c.851+1G>A	GK, GK-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 1284077	NM_001205019.2(GK):c.894+79C>T	GK, GK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1281823	NM_001205019.2(GK):c.894+208C>T	GK, GK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 426447	NM_001205019.2(GK):c.907_908insC (p.Asp303fs)	GK, GK-AS1 (D303fs +1 more)	Insertion (non-coding transcript variant +1 more)	not provided	GPathogenic

ClinVar