"SN ONGC Dept of Genetics and Molecular biology Vision Research Founda - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500158	NM_170784.3(MKKS):c.1526A>T (p.Asn509Ile)	MKKS (N509I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1691314	NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr)	MKKS (C497Y)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +2 more	GUncertain significance
Select item 2498303	NM_170784.3(MKKS):c.1184A>G (p.His395Arg)	MKKS (H395R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1066030	NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)	MKKS (G345E)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
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 549478	NM_170784.3(MKKS):c.119C>G (p.Ser40Ter)	MKKS (S40*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6 +1 more	GPathogenic/Likely pathogenic
Select item 955812	NM_170784.3(MKKS):c.7C>T (p.Arg3Cys)	MKKS (R3C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GUncertain significance

ClinVar