ClinVar for MedGen (Select 184924) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248264	NC_000020.10:g.(?_10385895)_(10394162_?)del	MKKS	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
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 2954280	NM_170784.3(MKKS):c.372_373insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAACATCTTTTG (p.Ser125delinsAlaGlyArgGlyGlySerArgLeuTer)	MKKS	Insertion (nonsense)	McKusick-Kaufman syndrome +1 more	GPathogenic
Select item 2954152	NM_170784.3(MKKS):c.594G>A (p.Lys198=)	MKKS	Single nucleotide variant (synonymous variant)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 2953958	NM_170784.3(MKKS):c.843G>A (p.Arg281=)	MKKS	Single nucleotide variant (synonymous variant)	McKusick-Kaufman syndrome +1 more	GLikely benign
Select item 2953585	NM_170784.3(MKKS):c.1222T>C (p.Leu408=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2952089	NM_170784.3(MKKS):c.66C>A (p.Val22=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2951944	NM_170784.3(MKKS):c.738A>G (p.Thr246=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2951896	NM_170784.3(MKKS):c.972G>T (p.Leu324=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2950868	NM_170784.3(MKKS):c.405C>T (p.Thr135=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2950698	NM_170784.3(MKKS):c.783G>A (p.Val261=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2950573	NM_170784.3(MKKS):c.435T>C (p.Ser145=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2950548	NM_170784.3(MKKS):c.255G>T (p.Val85=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2949739	NM_170784.3(MKKS):c.120A>C (p.Ser40=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2949513	NM_170784.3(MKKS):c.591A>G (p.Gly197=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2949240	NM_170784.3(MKKS):c.1548_1549delinsCT (p.Arg517Cys)	MKKS (R517C)	Indel (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2949157	NM_170784.3(MKKS):c.986-13C>T	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2949029	NM_170784.3(MKKS):c.1545C>T (p.Ser515=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2948664	NM_170784.3(MKKS):c.411T>C (p.Gly137=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2948378	NM_170784.3(MKKS):c.985+9C>T	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2948295	NM_170784.3(MKKS):c.6T>C (p.Ser2=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2947670	NM_170784.3(MKKS):c.540A>G (p.Arg180=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2947485	NM_170784.3(MKKS):c.1272+20T>C	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2947336	NM_170784.3(MKKS):c.986-9A>G	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2947100	NM_170784.3(MKKS):c.1437A>G (p.Ser479=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2947004	NM_170784.3(MKKS):c.986-19T>C	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2946683	NM_170784.3(MKKS):c.1380T>C (p.Ser460=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2946321	NM_170784.3(MKKS):c.708A>G (p.Ser236=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2945991	NM_170784.3(MKKS):c.1704T>C (p.Asp568=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2945882	NM_170784.3(MKKS):c.33G>A (p.Leu11=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2945509	NM_170784.3(MKKS):c.1190del (p.Leu397fs)	MKKS (L397fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 2945482	NM_170784.3(MKKS):c.9T>G (p.Arg3=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2944583	NM_170784.3(MKKS):c.1161+16del	MKKS	Deletion (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2944463	NM_170784.3(MKKS):c.327A>G (p.Leu109=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2944451	NM_170784.3(MKKS):c.393C>T (p.Leu131=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2944144	NM_170784.3(MKKS):c.1011C>T (p.Gly337=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2943752	NM_170784.3(MKKS):c.1162-5C>G	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2943453	NM_170784.3(MKKS):c.1410T>G (p.Thr470=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2943336	NM_170784.3(MKKS):c.765T>C (p.Thr255=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2943076	NM_170784.3(MKKS):c.1170T>C (p.Cys390=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2943015	NM_170784.3(MKKS):c.522C>G (p.Val174=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2942070	NM_170784.3(MKKS):c.1161+17G>C	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2941956	NM_170784.3(MKKS):c.529T>C (p.Leu177=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2941765	NM_170784.3(MKKS):c.66C>G (p.Val22=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2941564	NM_170784.3(MKKS):c.1608C>T (p.Asn536=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2941475	NM_170784.3(MKKS):c.1377C>T (p.Gly459=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2940780	NM_170784.3(MKKS):c.1162-7T>C	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2939803	NM_170784.3(MKKS):c.1272+16C>G	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2939787	NM_170784.3(MKKS):c.213T>C (p.His71=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2939754	NM_170784.3(MKKS):c.1203C>T (p.Leu401=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2939588	NM_170784.3(MKKS):c.987A>G (p.Gly329=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2938844	NM_170784.3(MKKS):c.1299C>G (p.Leu433=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2938510	NM_170784.3(MKKS):c.690A>G (p.Leu230=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2938508	NM_170784.3(MKKS):c.162G>T (p.Val54=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2938184	NM_170784.3(MKKS):c.1047T>C (p.Asp349=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2937836	NM_170784.3(MKKS):c.1167G>C (p.Thr389=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2937832	NM_170784.3(MKKS):c.657C>T (p.Leu219=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2937513	NM_170784.3(MKKS):c.27A>C (p.Pro9=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2937251	NM_170784.3(MKKS):c.357A>G (p.Leu119=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2937237	NM_170784.3(MKKS):c.1125C>T (p.Leu375=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2936994	NM_170784.3(MKKS):c.81T>C (p.Ser27=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2936057	NM_170784.3(MKKS):c.303C>T (p.Asn101=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2935960	NM_170784.3(MKKS):c.198C>T (p.His66=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2935777	NM_170784.3(MKKS):c.783G>T (p.Val261=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2935645	NM_170784.3(MKKS):c.985+20T>C	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2935609	NM_170784.3(MKKS):c.415C>A (p.Arg139=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2935352	NM_170784.3(MKKS):c.993G>A (p.Gln331=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2935173	NM_170784.3(MKKS):c.105A>T (p.Ser35=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2935125	NM_170784.3(MKKS):c.663A>G (p.Glu221=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2935094	NM_170784.3(MKKS):c.1110C>T (p.Ile370=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2934974	NM_170784.3(MKKS):c.547T>C (p.Leu183=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2934899	NM_170784.3(MKKS):c.897A>G (p.Pro299=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2934781	NM_170784.3(MKKS):c.513A>G (p.Thr171=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2934366	NM_170784.3(MKKS):c.288T>C (p.Ala96=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2933474	NM_170784.3(MKKS):c.1257A>G (p.Ala419=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2932815	NM_170784.3(MKKS):c.1410T>C (p.Thr470=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2932715	NM_170784.3(MKKS):c.648T>A (p.Pro216=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2932475	NM_170784.3(MKKS):c.1605C>T (p.Ser535=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2932095	NM_170784.3(MKKS):c.30A>G (p.Ser10=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2930201	NM_170784.3(MKKS):c.861C>T (p.His287=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2929764	NM_170784.3(MKKS):c.336A>G (p.Thr112=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2929689	NM_170784.3(MKKS):c.1032T>C (p.Tyr344=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2929581	NM_170784.3(MKKS):c.504A>G (p.Arg168=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2929530	NM_170784.3(MKKS):c.1692T>C (p.Tyr564=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2929495	NM_170784.3(MKKS):c.729C>T (p.Leu243=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2929494	NM_170784.3(MKKS):c.621A>G (p.Gln207=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2929354	NM_170784.3(MKKS):c.678A>G (p.Gln226=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2929177	NM_170784.3(MKKS):c.1095T>C (p.Pro365=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2929038	NM_170784.3(MKKS):c.189G>A (p.Leu63=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2928798	NM_170784.3(MKKS):c.1162-15T>G	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2928686	NM_170784.3(MKKS):c.1278C>T (p.His426=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2928552	NM_170784.3(MKKS):c.1162-10T>G	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2928518	NM_170784.3(MKKS):c.801T>G (p.Ser267=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
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 2928344	NM_170784.3(MKKS):c.985+13C>G	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2928333	NM_170784.3(MKKS):c.732T>C (p.Phe244=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2928235	NM_170784.3(MKKS):c.985+7A>G	MKKS	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2927665	NM_170784.3(MKKS):c.1044A>G (p.Lys348=)	MKKS	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2927565	NM_170784.3(MKKS):c.147C>T (p.Gly49=)	MKKS	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign

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