Related gene-specific medical variations for Gene (Select 8195) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064969	NM_170784.3(MKKS):c.466A>C (p.Ser156Arg)	MKKS (S156R)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome	GUncertain significance
Select item 3064189	NM_170784.3(MKKS):c.1646T>C (p.Leu549Pro)	MKKS (L549P)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome	GLikely pathogenic
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 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 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 2676535	NM_170784.3(MKKS):c.668C>A (p.Ser223Ter)	MKKS (S223*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 6	GLikely 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 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 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 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 1324722	NM_170784.3(MKKS):c.478del (p.Ser160fs)	MKKS (S160fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 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 866207	NM_170784.3(MKKS):c.1268_1272delinsC (p.His423fs)	MKKS (H423fs)	Indel (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 591147	NM_170784.3(MKKS):c.1462_1463delinsAT (p.Ala488Ile)	MKKS (A488I)	Indel (missense variant +1 more)	not provided	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 585167	NM_170784.3(MKKS):c.492T>A (p.Cys164Ter)	MKKS (C164*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome	GPathogenic
Select item 585165	NM_170784.3(MKKS):c.1478del (p.Leu493fs)	MKKS (L493fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 337713	NM_170784.3(MKKS):c.-649+2202_-649+2204dup	LOC128706665, LOC128706666 +1 more	Duplication (5 prime UTR variant +1 more)	McKusick-Kaufman syndrome +1 more	GLikely 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 337711	NM_170784.3(MKKS):c.-649+2292del	LOC128706665, LOC128706666 +1 more	Deletion (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
Select item 337709	NM_001394148.2(LOC128706665):c.-22+2430T>G	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 6 +1 more	GLikely benign
Select item 337708	NM_170784.3(MKKS):c.-562C>T	LOC128706665, LOC128706666 +1 more	Single nucleotide variant (synonymous variant +2 more)	McKusick-Kaufman syndrome +1 more	GUncertain significance
Select item 337707	NM_001394148.2(LOC128706665):c.71A>G (p.His24Arg)	LOC128706665, LOC128706666 +1 more (H24R)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337706	NM_001394148.2(LOC128706665):c.132T>G (p.Ile44Met)	LOC128706665, LOC128706666 +1 more (I44M)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337705	NM_001394148.2(LOC128706665):c.133C>A (p.Pro45Thr)	LOC128706665, LOC128706666 +1 more (P45T)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337704	NM_170784.3(MKKS):c.-481T>A	LOC128706665, LOC128706666 +1 more (S49R)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337703	NM_170784.3(MKKS):c.-477G>T	LOC128706665, LOC128706666 +1 more (G51*)	Single nucleotide variant (nonsense +2 more)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337702	NM_170784.3(MKKS):c.-417-13dup	LOC128706665, LOC128706666 +1 more	Duplication (intron variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 337701	NM_170784.3(MKKS):c.-406G>C	LOC128706666, MKKS +1 more	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 6 +1 more	GUncertain significance
Select item 337700	NM_001394148.2(LOC128706665):c.*87A>G	LOC128706665, LOC128706666 +1 more (K9E)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GLikely benign
Select item 337699	NM_001394148.2(LOC128706665):c.*130A>G	LOC128706665, LOC128706666 +1 more (H23R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +1 more	GConflicting classifications of pathogenicity
Select item 21672	NM_170784.3(MKKS):c.873_876dup (p.Cys293fs)	MKKS (C293fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 21670	NM_170784.3(MKKS):c.431_441del (p.Phe144fs)	MKKS (F144fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 21668	NM_170784.3(MKKS):c.-74G>A	MKKS	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome	GBenign
Select item 21667	NM_001394148.2(LOC128706665):c.-56_-47dup	LOC128706665, LOC128706666 +1 more	Duplication (5 prime UTR variant +1 more)	Bardet-Biedl syndrome	GBenign

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Links from Gene

Items: 49