"GeneDx"[submitter] AND "KCNJ13"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 1169670	NM_002242.4(KCNJ13):c.827A>C (p.Glu276Ala)	GIGYF2, KCNJ13 (E196A +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 335056	NM_002242.4(KCNJ13):c.524C>T (p.Thr175Ile)	GIGYF2, KCNJ13 (T175I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Leber congenital amaurosis 16 +1 more	GBenign
Select item 1238877	NM_001103146.3(GIGYF2):c.532+7590A>G	GIGYF2, KCNJ13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237662	NM_001103146.3(GIGYF2):c.532+9242A>C	GIGYF2, KCNJ13	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar