"PreventionGenetics, part of Exact Sciences"[submitter] AND "UNC50"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060880	NM_014044.7(UNC50):c.-4-46T>A	UNC50 (M1K)	Single nucleotide variant (missense variant +2 more)	UNC50-related disorder	GBenign
Select item 3052492	NM_014044.7(UNC50):c.640A>G (p.Ser214Gly)	UNC50 (S214G +1 more)	Single nucleotide variant (missense variant)	UNC50-related disorder	GBenign
Select item 3060568	NM_014044.7(UNC50):c.644-27dup	UNC50	Duplication (intron variant)	UNC50-related disorder	GBenign
Select item 3056460	NM_014044.7(UNC50):c.644-30T>A	UNC50	Single nucleotide variant (intron variant)	UNC50-related disorder	GBenign
Select item 3056380	NM_014044.7(UNC50):c.644-28_644-27dup	UNC50	Duplication (intron variant)	UNC50-related disorder	GBenign
Select item 3049710	NM_014044.7(UNC50):c.696G>A (p.Leu232=)	UNC50 (D240N)	Single nucleotide variant (missense variant +1 more)	UNC50-related disorder	GLikely benign

ClinVar