"Revvity Omics, Revvity"[submitter] AND "MKKS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689428	NM_170784.3(MKKS):c.1516GAA[3] (p.Glu507_Leu508insGlu)	MKKS	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 499577	NM_170784.3(MKKS):c.1161+4G>A	MKKS	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 962801	NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)	MKKS (G250R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 6 +3 more	GConflicting classifications of pathogenicity
Select item 1324722	NM_170784.3(MKKS):c.478del (p.Ser160fs)	MKKS (S160fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 5316	NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)	MKKS (T57A)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +3 more	GPathogenic/Likely pathogenic
Select item 841278	NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)	MKKS (G41R)	Single nucleotide variant (missense variant)	MKKS-related disorder +5 more	GConflicting classifications of pathogenicity

ClinVar