ClinVar for MedGen (Select 347610) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676549	NM_170784.3(MKKS):c.871G>T (p.Val291Phe)	MKKS (V291F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676548	NM_170784.3(MKKS):c.383_391delinsG (p.Ile128fs)	MKKS (I128fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676547	NM_170784.3(MKKS):c.182C>G (p.Ser61Ter)	MKKS (S61*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676546	NM_170784.3(MKKS):c.619C>T (p.Gln207Ter)	MKKS (Q207*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676545	NM_170784.3(MKKS):c.1353del (p.Phe450_Cys451insTer)	MKKS	Deletion (nonsense +1 more)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676544	NM_170784.3(MKKS):c.40_41del (p.Lys13_Ser14insTer)	MKKS	Microsatellite (nonsense)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676543	NM_170784.3(MKKS):c.432del (p.Phe144fs)	MKKS (F144fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676542	NM_170784.3(MKKS):c.187_188dup (p.Leu64fs)	MKKS (L64fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676541	NM_170784.3(MKKS):c.1486C>T (p.Gln496Ter)	MKKS (Q496*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676540	NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)	MKKS (W478*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2676539	NM_170784.3(MKKS):c.966del (p.Glu322fs)	MKKS (E322fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2676538	NM_170784.3(MKKS):c.61A>T (p.Arg21Ter)	MKKS (R21*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676537	NM_170784.3(MKKS):c.886del (p.Val296fs)	MKKS (V296fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676536	NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)	MKKS	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2676535	NM_170784.3(MKKS):c.668C>A (p.Ser223Ter)	MKKS (S223*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676534	NM_170784.3(MKKS):c.732_733del (p.Phe244fs)	MKKS (F244fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6 +2 more	GPathogenic/Likely pathogenic
Select item 2676533	NM_170784.3(MKKS):c.221T>G (p.Leu74Ter)	MKKS (L74*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2676531	NM_170784.3(MKKS):c.611del (p.Pro203_Leu204insTer)	MKKS	Deletion (nonsense)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2158742	NM_170784.3(MKKS):c.942_945del (p.Asp314fs)	MKKS (D314fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2056365	NM_170784.3(MKKS):c.432dup (p.Ser145Ter)	MKKS (S145*)	Duplication (nonsense)	Bardet-Biedl syndrome 6 +2 more	GPathogenic/Likely pathogenic
Select item 1803890	NM_170784.3(MKKS):c.14A>C (p.Glu5Ala)	MKKS (E5A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 1803835	NM_170784.3(MKKS):c.109T>C (p.Tyr37His)	MKKS (Y37H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 1712273	NM_170784.3(MKKS):c.950_960del (p.Gly317fs)	MKKS (G317fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
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 1683700	NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)	MKKS (F144fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 6 +1 more	GPathogenic/Likely pathogenic
Select item 1653855	NM_170784.3(MKKS):c.1162-12del	MKKS	Deletion (intron variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1586960	NM_170784.3(MKKS):c.1356T>C (p.Ser452=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	MKKS-related condition +3 more	GLikely benign
Select item 1572575	NM_170784.3(MKKS):c.210A>C (p.Thr70=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 6 +2 more	GLikely benign
Select item 1560863	NM_170784.3(MKKS):c.1360C>T (p.Leu454=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	McKusick-Kaufman syndrome +2 more	GLikely benign
Select item 1477984	NM_170784.3(MKKS):c.363A>C (p.Lys121Asn)	MKKS (K121N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1457941	NM_170784.3(MKKS):c.515_516del (p.Glu172fs)	MKKS (E172fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1432275	NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn)	MKKS (S343N)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +2 more	GUncertain significance
Select item 1431638	NM_170784.3(MKKS):c.940_941del (p.Asp314fs)	MKKS (D314fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6 +2 more	GPathogenic/Likely pathogenic
Select item 1412591	NM_170784.3(MKKS):c.281T>G (p.Phe94Cys)	MKKS (F94C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 6 +2 more	GUncertain significance
Select item 1411748	NM_170784.3(MKKS):c.1085A>G (p.His362Arg)	MKKS (H362R)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +3 more	GUncertain significance
Select item 1371285	NM_170784.3(MKKS):c.302A>T (p.Asn101Ile)	MKKS (N101I)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +2 more	GUncertain significance
Select item 1359956	NM_170784.3(MKKS):c.1075C>T (p.His359Tyr)	MKKS (H359Y)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +2 more	GUncertain significance
Select item 1297700	NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter)	MKKS (S479*)	Single nucleotide variant (non-coding transcript variant +1 more)	McKusick-Kaufman syndrome +2 more	GPathogenic
Select item 1179069	NM_170784.3(MKKS):c.986-1G>A	MKKS	Single nucleotide variant (splice acceptor variant)	McKusick-Kaufman syndrome +1 more	GPathogenic
Select item 1148489	NM_170784.3(MKKS):c.717C>T (p.Leu239=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 6 +2 more	GLikely benign
Select item 1105656	NM_170784.3(MKKS):c.1695T>C (p.Val565=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 1094742	NM_170784.3(MKKS):c.207C>T (p.Val69=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 6 +2 more	GLikely benign
Select item 1074439	NM_170784.3(MKKS):c.63_64del (p.Arg21fs)	MKKS (R21fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 6 +2 more	GPathogenic/Likely pathogenic
Select item 1066030	NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)	MKKS (G345E)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1061951	NM_170784.3(MKKS):c.146G>T (p.Gly49Val)	MKKS (G49V)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +2 more	GUncertain significance
Select item 1059719	NM_170784.3(MKKS):c.1246C>A (p.His416Asn)	MKKS (H416N)	Single nucleotide variant (missense variant +1 more)	MKKS-related condition +3 more	GUncertain significance
Select item 1038618	NM_170784.3(MKKS):c.464G>A (p.Arg155His)	MKKS (R155H)	Single nucleotide variant (missense variant)	MKKS-related condition +3 more	GUncertain significance
Select item 1035427	NM_170784.3(MKKS):c.1067G>T (p.Gly356Val)	MKKS (G356V)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +2 more	GUncertain significance
Select item 1030676	NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp)	MKKS (L542W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GUncertain significance
Select item 992464	NM_170784.3(MKKS):c.-41_985+60del	MKKS	Deletion (splice donor variant +1 more)	Bardet-Biedl syndrome 6	GPathogenic
Select item 985902	NM_170784.3(MKKS):c.251_252del (p.His84fs)	MKKS (H84fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 985054	NM_170784.3(MKKS):c.415C>T (p.Arg139Ter)	MKKS (R139*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 971909	NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)	MKKS (Q59*)	Single nucleotide variant (nonsense)	McKusick-Kaufman syndrome +2 more	GPathogenic/Likely pathogenic
Select item 970291	NM_170784.3(MKKS):c.29C>A (p.Ser10Ter)	MKKS (S10*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +3 more	GPathogenic/Likely pathogenic
Select item 969886	NM_170784.3(MKKS):c.629T>C (p.Ile210Thr)	MKKS (I210T)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +2 more	GUncertain significance
Select item 964478	NM_170784.3(MKKS):c.1294A>T (p.Ile432Phe)	MKKS (I432F)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +2 more	GUncertain significance
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 962475	NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu)	MKKS (Q440E)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +3 more	GUncertain significance
Select item 958862	NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys)	MKKS (N366K)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 939663	NM_170784.3(MKKS):c.380del (p.Cys127fs)	MKKS (C127fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6 +2 more	GPathogenic/Likely pathogenic
Select item 898647	NM_170784.3(MKKS):c.-159A>C	MKKS	Single nucleotide variant (5 prime UTR variant)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 898521	NM_170784.3(MKKS):c.1645C>T (p.Leu549=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 898520	NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser)	MKKS (N557S)	Single nucleotide variant (missense variant +1 more)	MKKS-related condition +3 more	GUncertain significance
Select item 897557	NM_170784.3(MKKS):c.-618C>T	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GBenign
Select item 897430	NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr)	MKKS (A353T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 897429	NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)	MKKS (D436G)	Single nucleotide variant (missense variant +1 more)	MKKS-related condition +4 more	GUncertain significance
Select item 897365	NM_170784.3(MKKS):c.*103A>G	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 897364	NM_170784.3(MKKS):c.*112C>T	MKKS	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 896932	NM_170784.3(MKKS):c.1307A>T (p.Asp436Val)	MKKS (D436V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 895668	NM_170784.3(MKKS):c.-388A>G	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (5 prime UTR variant)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 895667	NM_170784.3(MKKS):c.-384C>T	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 895606	NM_170784.3(MKKS):c.180C>T (p.Ser60=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 895605	NM_170784.3(MKKS):c.329G>T (p.Gly110Val)	MKKS (G110V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 895531	NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu)	MKKS (S533L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 866319	NM_170784.3(MKKS):c.775del (p.Thr259fs)	MKKS (T259fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 860979	NM_170784.3(MKKS):c.926G>A (p.Arg309His)	MKKS (R309H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 860468	NM_170784.3(MKKS):c.1161+3A>G	MKKS	Single nucleotide variant (intron variant)	MKKS-related condition +3 more	GConflicting classifications of pathogenicity
Select item 858772	NM_170784.3(MKKS):c.538A>G (p.Arg180Gly)	MKKS (R180G)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +2 more	GUncertain significance
Select item 852022	NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys)	MKKS (E455K)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +3 more	GUncertain significance
Select item 841278	NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)	MKKS (G41R)	Single nucleotide variant (missense variant)	MKKS-related condition +5 more	GConflicting classifications of pathogenicity
Select item 800851	NM_170784.3(MKKS):c.116C>T (p.Pro39Leu)	MKKS (P39L)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome	GPathogenic
Select item 699076	NM_170784.3(MKKS):c.822C>T (p.Asp274=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 696496	NM_170784.3(MKKS):c.231G>A (p.Leu77=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 695968	NM_170784.3(MKKS):c.15A>G (p.Glu5=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 636042	NM_170784.3(MKKS):c.890T>C (p.Ile297Thr)	MKKS (I297T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 6 +2 more	GConflicting classifications of pathogenicity
Select item 636041	NM_170784.3(MKKS):c.837del (p.Gly280fs)	MKKS (G280fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6 +3 more	GPathogenic
Select item 591935	NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe)	MKKS (C376F)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +2 more	GUncertain significance
Select item 585168	NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter)	MKKS (Y264*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6	GPathogenic
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 522402	NM_170784.3(MKKS):c.613A>T (p.Lys205Ter)	MKKS (K205*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6	GPathogenic
Select item 521251	NM_170784.3(MKKS):c.845dup (p.Leu283fs)	MKKS (L283fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 6 +1 more	GPathogenic/Likely pathogenic
Select item 498858	NM_170784.3(MKKS):c.59A>G (p.Glu20Gly)	MKKS (E20G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 6 +4 more	GUncertain significance
Select item 497476	NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)	MKKS (R23G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +5 more	GConflicting classifications of pathogenicity
Select item 478890	NM_170784.3(MKKS):c.250C>T (p.His84Tyr)	MKKS (H84Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 463179	NM_170784.3(MKKS):c.757T>C (p.Ser253Pro)	MKKS (S253P)	Single nucleotide variant (missense variant)	MKKS-related condition +4 more	GConflicting classifications of pathogenicity
Select item 463178	NM_170784.3(MKKS):c.416G>A (p.Arg139Gln)	MKKS (R139Q)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +2 more	GBenign/Likely benign
Select item 448914	NM_170784.2(MKKS):c.[250C>T;724G>T]	MKKS (A242S +1 more)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome	GPathogenic
Select item 414069	NM_170784.3(MKKS):c.16G>A (p.Ala6Thr)	MKKS (A6T)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +3 more	GBenign/Likely benign
Select item 337712	NM_170784.3(MKKS):c.-649+2238A>T	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 337710	NM_170784.3(MKKS):c.-649+2366C>T	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance

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