"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MKKS"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 95921	NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn)	MKKS (D492N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +4 more	GUncertain significance
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 1586960	NM_170784.3(MKKS):c.1356T>C (p.Ser452=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 6 +2 more	GLikely benign
Select item 962475	NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu)	MKKS (Q440E)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +3 more	GUncertain significance
Select item 897429	NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)	MKKS (D436G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 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 337689	NM_170784.3(MKKS):c.1282G>A (p.Asp428Asn)	MKKS (D428N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +3 more	GUncertain significance
Select item 1059719	NM_170784.3(MKKS):c.1246C>A (p.His416Asn)	MKKS (H416N)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +2 more	GUncertain significance
Select item 1653855	NM_170784.3(MKKS):c.1162-12del	MKKS	Deletion (intron variant)	McKusick-Kaufman syndrome +2 more	GLikely benign
Select item 591935	NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe)	MKKS (C376F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 6 +2 more	GUncertain significance
Select item 958862	NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys)	MKKS (N366K)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1411748	NM_170784.3(MKKS):c.1085A>G (p.His362Arg)	MKKS (H362R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 1035427	NM_170784.3(MKKS):c.1067G>T (p.Gly356Val)	MKKS (G356V)	Single nucleotide variant (missense variant +1 more)	McKusick-Kaufman syndrome +3 more	GUncertain significance
Select item 1179069	NM_170784.3(MKKS):c.986-1G>A	MKKS	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 6 +1 more	GPathogenic
Select item 860979	NM_170784.3(MKKS):c.926G>A (p.Arg309His)	MKKS (R309H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 196491	NM_170784.3(MKKS):c.812C>T (p.Ala271Val)	MKKS (A271V)	Single nucleotide variant (missense variant)	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)	McKusick-Kaufman syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1148489	NM_170784.3(MKKS):c.717C>T (p.Leu239=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 969886	NM_170784.3(MKKS):c.629T>C (p.Ile210Thr)	MKKS (I210T)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +3 more	GUncertain significance
Select item 858772	NM_170784.3(MKKS):c.538A>G (p.Arg180Gly)	MKKS (R180G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 6 +2 more	GUncertain significance
Select item 1038618	NM_170784.3(MKKS):c.464G>A (p.Arg155His)	MKKS (R155H)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +4 more	GUncertain significance
Select item 1683700	NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs)	MKKS (F144fs)	Indel (frameshift variant)	McKusick-Kaufman syndrome +1 more	GPathogenic/Likely pathogenic
Select item 463178	NM_170784.3(MKKS):c.416G>A (p.Arg139Gln)	MKKS (R139Q)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +3 more	GBenign/Likely benign
Select item 985054	NM_170784.3(MKKS):c.415C>T (p.Arg139Ter)	MKKS (R139*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
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 1477984	NM_170784.3(MKKS):c.363A>C (p.Lys121Asn)	MKKS (K121N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 6 +2 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 1412591	NM_170784.3(MKKS):c.281T>G (p.Phe94Cys)	MKKS (F94C)	Single nucleotide variant (missense variant)	McKusick-Kaufman syndrome +2 more	GUncertain significance
Select item 985902	NM_170784.3(MKKS):c.251_252del (p.His84fs)	MKKS (H84fs)	Deletion (frameshift variant)	McKusick-Kaufman syndrome +3 more	GPathogenic/Likely pathogenic
Select item 696496	NM_170784.3(MKKS):c.231G>A (p.Leu77=)	MKKS	Single nucleotide variant (synonymous variant)	McKusick-Kaufman syndrome +2 more	GLikely benign
Select item 1572575	NM_170784.3(MKKS):c.210A>C (p.Thr70=)	MKKS	Single nucleotide variant (synonymous variant)	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)	McKusick-Kaufman syndrome +2 more	GLikely benign
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 841278	NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)	MKKS (G41R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 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 498858	NM_170784.3(MKKS):c.59A>G (p.Glu20Gly)	MKKS (E20G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 283347	NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr)	MKKS (C12Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 695968	NM_170784.3(MKKS):c.15A>G (p.Glu5=)	MKKS	Single nucleotide variant (synonymous variant)	McKusick-Kaufman syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 42