"Blueprint Genetics"[submitter] AND "MAK"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 444672	NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs)	MAK (N542fs +1 more)	Deletion (frameshift variant +2 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 866153	NM_001242957.3(MAK):c.1356_1357del (p.Glu454fs)	MAK (E420fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866374	NM_001242957.3(MAK):c.1316G>A (p.Arg439Gln)	MAK (R405Q +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 817732	NM_001242957.3(MAK):c.718_719del (p.Gln240fs)	MAK (Q206fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 867222	NM_001242957.3(MAK):c.485C>T (p.Thr162Ile)	MAK (T162I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 498012	NM_001242957.3(MAK):c.156+2T>C	MAK	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GLikely pathogenic

ClinVar