"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SKIC3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430077	NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)	SKIC3 (P1270A)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 827751	NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter)	SKIC3 (R1209*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1484654	NM_014639.4(SKIC3):c.3253C>G (p.Gln1085Glu)	SKIC3 (Q1085E)	Single nucleotide variant (missense variant)	Trichohepatoenteric syndrome 1 +1 more	GUncertain significance
Select item 827750	NM_014639.4(SKIC3):c.1757+1G>A	SKIC3	Single nucleotide variant (splice donor variant)	Trichohepatoenteric syndrome 1 +1 more	GLikely pathogenic
Select item 194654	NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg)	SKIC3 (T476R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 702041	NM_014639.4(SKIC3):c.1392C>T (p.Tyr464=)	SKIC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1455116	NM_014639.4(SKIC3):c.1374C>G (p.Tyr458Ter)	SKIC3 (Y458*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 199132	NM_014639.4(SKIC3):c.585G>A (p.Lys195=)	SKIC3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign

ClinVar