"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "SKIC3"[gen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664221	NM_014639.4(SKIC3):c.3301C>T (p.Gln1101Ter)	SKIC3 (Q1101*)	Single nucleotide variant (nonsense)	Trichohepatoenteric syndrome 1	GLikely pathogenic
Select item 3236455	NM_014639.4(SKIC3):c.2387del (p.Thr796fs)	SKIC3 (T796fs)	Deletion (frameshift variant)	Trichohepatoenteric syndrome 1	GLikely pathogenic
Select item 1311355	NM_014639.4(SKIC3):c.642+1G>A	SKIC3	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity

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