"PreventionGenetics, part of Exact Sciences"[submitter] AND "HELLS"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 776529	NM_018063.5(HELLS):c.270A>G (p.Gln90=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 790454	NM_018063.5(HELLS):c.334G>A (p.Gly112Ser)	HELLS (G112S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1560107	NM_018063.5(HELLS):c.371-5dup	HELLS	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 739088	NM_018063.5(HELLS):c.913A>G (p.Thr305Ala)	HELLS (T167A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 752928	NM_018063.5(HELLS):c.1033-9G>A	HELLS	Single nucleotide variant (intron variant)	HELLS-related disorder +1 more	GLikely benign
Select item 1899235	NM_018063.5(HELLS):c.1194C>T (p.Asn398=)	HELLS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 708084	NM_018063.5(HELLS):c.1488+6G>A	HELLS	Single nucleotide variant (intron variant)	HELLS-related disorder +1 more	GBenign
Select item 1592198	NM_018063.5(HELLS):c.2249-3dup	HELLS	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign

ClinVar