"Illumina Laboratory Services, Illumina"[submitter] AND "NELFE"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356299	NM_002904.6(NELFE):c.-9+69G>A	NELFE, SKIC2	Single nucleotide variant (intron variant)	Trichohepatoenteric syndrome	GLikely benign
Select item 356300	NM_002904.6(NELFE):c.-30C>A	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 356301	NM_002904.6(NELFE):c.-37C>T	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 356302	NM_002904.6(NELFE):c.-41A>G	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 356303	NM_002904.6(NELFE):c.-61G>C	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance
Select item 356304	NM_002904.6(NELFE):c.-86C>T	NELFE, SKIC2	Single nucleotide variant (5 prime UTR variant)	Trichohepatoenteric syndrome	GUncertain significance

ClinVar