"GeneDx"[submitter] AND "SIX2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 393288	NM_016932.5(SIX2):c.760G>A (p.Ala254Thr)	SIX2 (A254T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1318082	NM_016932.5(SIX2):c.722C>T (p.Pro241Leu)	SIX2 (P241L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1243191	NM_016932.5(SIX2):c.561-152G>C	SIX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221005	NM_016932.5(SIX2):c.561-178C>A	SIX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288376	NC_000002.12:g.45009664T>G	SIX2	Single nucleotide variant	not provided	GBenign

ClinVar