"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SKIC2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683782	NM_006929.5(SKIC2):c.126+4A>G	SKIC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1163850	NM_006929.5(SKIC2):c.673G>A (p.Glu225Lys)	SKIC2 (E225K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360671	NM_006929.5(SKIC2):c.1172C>T (p.Pro391Leu)	LOC126859653, SKIC2 (P391L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1040396	NM_006929.5(SKIC2):c.1613C>G (p.Ala538Gly)	SKIC2 (A538G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163263	NM_006929.5(SKIC2):c.1860+29A>G	SKIC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1163264	NM_006929.5(SKIC2):c.3139C>G (p.Gln1047Glu)	SKIC2 (Q1047E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar