C1858054[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030676	NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp)	MKKS (L542W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +3 more	GUncertain significance
Select item 3241934	NM_170784.3(MKKS):c.1529G>A (p.Trp510Ter)	MKKS (W510*)	Single nucleotide variant (nonsense +1 more)	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 3241931	NM_170784.3(MKKS):c.1470G>A (p.Trp490Ter)	MKKS (W490*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 1297700	NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter)	MKKS (S479*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 6 +2 more	GPathogenic
Select item 2676540	NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)	MKKS (W478*)	Single nucleotide variant (nonsense +1 more)	McKusick-Kaufman syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2676536	NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)	MKKS	Deletion (frameshift variant +1 more)	McKusick-Kaufman syndrome +2 more	GPathogenic/Likely pathogenic
Select item 3241928	NM_170784.3(MKKS):c.1354_1358del (p.Ser452fs)	MKKS (S452fs)	Deletion (frameshift variant +1 more)	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 3241927	NM_170784.3(MKKS):c.1192C>T (p.Gln398Ter)	MKKS (Q398*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 6	GPathogenic
Select item 860468	NM_170784.3(MKKS):c.1161+3A>G	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 6 +3 more	GConflicting classifications of pathogenicity
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 2676539	NM_170784.3(MKKS):c.966del (p.Glu322fs)	MKKS (E322fs)	Deletion (frameshift variant)	McKusick-Kaufman syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1712273	NM_170784.3(MKKS):c.950_960del (p.Gly317fs)	MKKS (G317fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6 +2 more	GPathogenic/Likely 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 1431638	NM_170784.3(MKKS):c.940_941del (p.Asp314fs)	MKKS (D314fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
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 2676537	NM_170784.3(MKKS):c.886del (p.Val296fs)	MKKS (V296fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 3241930	NM_170784.3(MKKS):c.883A>T (p.Lys295Ter)	MKKS (K295*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6	GLikely pathogenic
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 1406457	NM_170784.3(MKKS):c.867dup (p.Leu290fs)	MKKS (L290fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 6 +2 more	GPathogenic/Likely pathogenic
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 3241932	NM_170784.3(MKKS):c.844C>T (p.Gln282Ter)	MKKS (Q282*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6	GLikely pathogenic
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 5314	NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)	MKKS (L277P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GPathogenic/Likely pathogenic
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 866319	NM_170784.3(MKKS):c.775del (p.Thr259fs)	MKKS (T259fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6 +2 more	GPathogenic
Select item 962801	NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)	MKKS (G250R)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2676534	NM_170784.3(MKKS):c.732_733del (p.Phe244fs)	MKKS (F244fs)	Deletion (frameshift variant)	McKusick-Kaufman syndrome +2 more	GConflicting classifications of pathogenicity
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 3241929	NM_170784.3(MKKS):c.619del (p.Gln207fs)	MKKS (Q207fs)	Deletion (frameshift variant)	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 2676531	NM_170784.3(MKKS):c.611del (p.Pro203_Leu204insTer)	MKKS	Deletion (nonsense)	Bardet-Biedl syndrome 6	GLikely pathogenic
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 960365	NM_170784.3(MKKS):c.432_435del (p.Phe144fs)	MKKS (F144fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6 +2 more	GPathogenic
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 2676543	NM_170784.3(MKKS):c.432del (p.Phe144fs)	MKKS (F144fs)	Deletion (frameshift 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 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 3241933	NM_170784.3(MKKS):c.348del (p.Ile117fs)	MKKS (I117fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 2928460	NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)	MKKS (S86*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 3241926	NM_170784.3(MKKS):c.252del (p.His84fs)	MKKS (H84fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 478890	NM_170784.3(MKKS):c.250C>T (p.His84Tyr)	MKKS (H84Y)	Single nucleotide variant (missense variant)	not provided +3 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 2676542	NM_170784.3(MKKS):c.187_188dup (p.Leu64fs)	MKKS (L64fs)	Microsatellite (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 971909	NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)	MKKS (Q59*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely 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 5311	NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)	MKKS (G52D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 5309	NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)	MKKS (Y37C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1074439	NM_170784.3(MKKS):c.63_64del (p.Arg21fs)	MKKS (R21fs)	Microsatellite (frameshift variant)	McKusick-Kaufman 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 2676544	NM_170784.3(MKKS):c.40_41del (p.Lys13_Ser14insTer)	MKKS	Microsatellite (nonsense)	Bardet-Biedl syndrome 6	GLikely pathogenic
Select item 970291	NM_170784.3(MKKS):c.29C>A (p.Ser10Ter)	MKKS (S10*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6 +3 more	GPathogenic/Likely pathogenic

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Items: 54