ClinVar for MedGen (Select 184924) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24204251.	NM_170784.3(MKKS):c.393C>G (p.Leu131=) GRCh37: Chr20:10393770 GRCh38: Chr20:10413122	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 24177152.	NM_170784.3(MKKS):c.65T>A (p.Val22Asp) GRCh37: Chr20:10394098 GRCh38: Chr20:10413450	MKKS	V22D	Inborn genetic diseases, Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Mar 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24159523.	NM_170784.3(MKKS):c.1118del (p.Leu373fs) GRCh37: Chr20:10389319 GRCh38: Chr20:10408671	MKKS	L373fs	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 22020824.	NM_170784.3(MKKS):c.676C>G (p.Gln226Glu) GRCh37: Chr20:10393487 GRCh38: Chr20:10412839	MKKS	Q226E	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 22018005.	NM_170784.3(MKKS):c.462G>A (p.Val154=) GRCh37: Chr20:10393701 GRCh38: Chr20:10413053	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 21924206.	NM_170784.3(MKKS):c.334A>T (p.Thr112Ser) GRCh37: Chr20:10393829 GRCh38: Chr20:10413181	MKKS	T112S	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 21906137.	NM_170784.3(MKKS):c.1299C>T (p.Leu433=) GRCh37: Chr20:10386309 GRCh38: Chr20:10405661	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 21894868.	NM_170784.3(MKKS):c.875T>G (p.Leu292Arg) GRCh37: Chr20:10393288 GRCh38: Chr20:10412640	MKKS	L292R	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 21791679.	NM_170784.3(MKKS):c.687G>A (p.Arg229=) GRCh37: Chr20:10393476 GRCh38: Chr20:10412828	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 217678210.	NM_170784.3(MKKS):c.1432T>A (p.Trp478Arg) GRCh37: Chr20:10386176 GRCh38: Chr20:10405528	MKKS	W478R	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 215987511.	NM_170784.3(MKKS):c.864A>C (p.Val288=) GRCh37: Chr20:10393299 GRCh38: Chr20:10412651	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 215874212.	NM_170784.3(MKKS):c.942_945del (p.Asp314fs) GRCh37: Chr20:10393218-10393221 GRCh38: Chr20:10412570-10412573	MKKS	D314fs	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Pathogenic (Apr 5, 2021)	criteria provided, single submitter
Select item 215764413.	NM_170784.3(MKKS):c.763A>G (p.Thr255Ala) GRCh37: Chr20:10393400 GRCh38: Chr20:10412752	MKKS	T255A	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 215492614.	NM_170784.3(MKKS):c.1272+2T>C GRCh37: Chr20:10388262 GRCh38: Chr20:10407614	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 214958615.	NM_170784.3(MKKS):c.729C>G (p.Leu243=) GRCh37: Chr20:10393434 GRCh38: Chr20:10412786	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 214884316.	NM_170784.3(MKKS):c.123T>A (p.Gly41=) GRCh37: Chr20:10394040 GRCh38: Chr20:10413392	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 214687417.	NM_170784.3(MKKS):c.69G>C (p.Arg23Ser) GRCh37: Chr20:10394094 GRCh38: Chr20:10413446	MKKS	R23S	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 214667218.	NM_170784.3(MKKS):c.1213T>C (p.Trp405Arg) GRCh37: Chr20:10388323 GRCh38: Chr20:10407675	MKKS	W405R	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 214569319.	NM_170784.3(MKKS):c.1332A>G (p.Gln444=) GRCh37: Chr20:10386276 GRCh38: Chr20:10405628	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 214307920.	NM_170784.3(MKKS):c.411T>A (p.Gly137=) GRCh37: Chr20:10393752 GRCh38: Chr20:10413104	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 213891821.	NM_170784.3(MKKS):c.302A>G (p.Asn101Ser) GRCh37: Chr20:10393861 GRCh38: Chr20:10413213	MKKS	N101S	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 213132722.	NM_170784.3(MKKS):c.76C>G (p.Leu26Val) GRCh37: Chr20:10394087 GRCh38: Chr20:10413439	MKKS	L26V	McKusick-Kaufman syndrome, Bardet-Biedl syndrome	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 213067423.	NM_170784.3(MKKS):c.47C>T (p.Pro16Leu) GRCh37: Chr20:10394116 GRCh38: Chr20:10413468	MKKS	P16L	McKusick-Kaufman syndrome, Bardet-Biedl syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 212662524.	NM_170784.3(MKKS):c.561A>C (p.Pro187=) GRCh37: Chr20:10393602 GRCh38: Chr20:10412954	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 212435325.	NM_170784.3(MKKS):c.1272+14T>A GRCh37: Chr20:10388250 GRCh38: Chr20:10407602	MKKS		McKusick-Kaufman syndrome, Bardet-Biedl syndrome	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 211961026.	NM_170784.3(MKKS):c.1149G>A (p.Trp383Ter) GRCh37: Chr20:10389288 GRCh38: Chr20:10408640	MKKS	W383*	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 211664727.	NM_170784.3(MKKS):c.573A>C (p.Glu191Asp) GRCh37: Chr20:10393590 GRCh38: Chr20:10412942	MKKS	E191D	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 211627828.	NM_170784.3(MKKS):c.955A>T (p.Thr319Ser) GRCh37: Chr20:10393208 GRCh38: Chr20:10412560	MKKS	T319S	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 211627729.	NM_170784.3(MKKS):c.957_958insATGGCA (p.Thr319_Leu320insMetAla) GRCh37: Chr20:10393205-10393206 GRCh38: Chr20:10412557-10412558	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 211132830.	NM_170784.3(MKKS):c.1583A>G (p.His528Arg) GRCh37: Chr20:10386025 GRCh38: Chr20:10405377	MKKS	H528R	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 209220231.	NM_170784.3(MKKS):c.1445C>A (p.Ala482Glu) GRCh37: Chr20:10386163 GRCh38: Chr20:10405515	MKKS	A482E	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 208824132.	NM_170784.3(MKKS):c.842G>C (p.Arg281Thr) GRCh37: Chr20:10393321 GRCh38: Chr20:10412673	MKKS	R281T	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 208457133.	NM_170784.3(MKKS):c.191T>C (p.Leu64Pro) GRCh37: Chr20:10393972 GRCh38: Chr20:10413324	MKKS	L64P	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 208358134.	NM_170784.3(MKKS):c.174A>C (p.Ser58=) GRCh37: Chr20:10393989 GRCh38: Chr20:10413341	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 208301035.	NM_170784.3(MKKS):c.1304A>T (p.Asp435Val) GRCh37: Chr20:10386304 GRCh38: Chr20:10405656	MKKS	D435V	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 207942536.	NM_170784.3(MKKS):c.1550G>A (p.Arg517His) GRCh37: Chr20:10386058 GRCh38: Chr20:10405410	MKKS	R517H	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 207886437.	NM_170784.3(MKKS):c.64G>A (p.Val22Ile) GRCh37: Chr20:10394099 GRCh38: Chr20:10413451	MKKS	V22I	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 207649138.	NM_170784.3(MKKS):c.259A>G (p.Ser87Gly) GRCh37: Chr20:10393904 GRCh38: Chr20:10413256	MKKS	S87G	McKusick-Kaufman syndrome, Bardet-Biedl syndrome	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 207547639.	NM_170784.3(MKKS):c.659T>C (p.Ile220Thr) GRCh37: Chr20:10393504 GRCh38: Chr20:10412856	MKKS	I220T	McKusick-Kaufman syndrome, Bardet-Biedl syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 207545140.	NM_170784.3(MKKS):c.1649A>C (p.Gln550Pro) GRCh37: Chr20:10385959 GRCh38: Chr20:10405311	MKKS	Q550P	McKusick-Kaufman syndrome, Bardet-Biedl syndrome	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 207158441.	NM_170784.3(MKKS):c.889A>G (p.Ile297Val) GRCh37: Chr20:10393274 GRCh38: Chr20:10412626	MKKS	I297V	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 206810142.	NM_170784.3(MKKS):c.834C>T (p.Asn278=) GRCh37: Chr20:10393329 GRCh38: Chr20:10412681	MKKS		McKusick-Kaufman syndrome, Bardet-Biedl syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 206806243.	NM_170784.3(MKKS):c.1037G>A (p.Ser346Asn) GRCh37: Chr20:10389400 GRCh38: Chr20:10408752	MKKS	S346N	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 206695644.	NM_170784.3(MKKS):c.1402A>G (p.Ile468Val) GRCh37: Chr20:10386206 GRCh38: Chr20:10405558	MKKS	I468V	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 206501145.	NM_170784.3(MKKS):c.607C>T (p.Pro203Ser) GRCh37: Chr20:10393556 GRCh38: Chr20:10412908	MKKS	P203S	McKusick-Kaufman syndrome, Bardet-Biedl syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 205981346.	NM_170784.3(MKKS):c.53C>T (p.Thr18Ile) GRCh37: Chr20:10394110 GRCh38: Chr20:10413462	MKKS	T18I	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 205852647.	NM_170784.3(MKKS):c.469A>G (p.Ile157Val) GRCh37: Chr20:10393694 GRCh38: Chr20:10413046	MKKS	I157V	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 205680448.	NM_170784.3(MKKS):c.1311A>G (p.Glu437=) GRCh37: Chr20:10386297 GRCh38: Chr20:10405649	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 205636549.	NM_170784.3(MKKS):c.432dup (p.Ser145Ter) GRCh37: Chr20:10393730-10393731 GRCh38: Chr20:10413082-10413083	MKKS	S145*	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 205588450.	NM_170784.3(MKKS):c.1183C>T (p.His395Tyr) GRCh37: Chr20:10388353 GRCh38: Chr20:10407705	MKKS	H395Y	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 204788951.	NM_170784.3(MKKS):c.1191G>A (p.Leu397=) GRCh37: Chr20:10388345 GRCh38: Chr20:10407697	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 203754152.	NM_170784.3(MKKS):c.111T>C (p.Tyr37=) GRCh37: Chr20:10394052 GRCh38: Chr20:10413404	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 203179153.	NM_170784.3(MKKS):c.221del (p.Ile73_Leu74insTer) GRCh37: Chr20:10393942 GRCh38: Chr20:10413294	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 202890254.	NM_170784.3(MKKS):c.1272+9G>A GRCh37: Chr20:10388255 GRCh38: Chr20:10407607	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 202075055.	NM_170784.3(MKKS):c.1272+14T>C GRCh37: Chr20:10388250 GRCh38: Chr20:10407602	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 202073956.	NM_170784.3(MKKS):c.390T>C (p.Tyr130=) GRCh37: Chr20:10393773 GRCh38: Chr20:10413125	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 201900557.	NM_170784.3(MKKS):c.859C>A (p.His287Asn) GRCh37: Chr20:10393304 GRCh38: Chr20:10412656	MKKS	H287N	McKusick-Kaufman syndrome, Bardet-Biedl syndrome	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 201650158.	NM_170784.3(MKKS):c.1404T>C (p.Ile468=) GRCh37: Chr20:10386204 GRCh38: Chr20:10405556	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 201340159.	NM_170784.3(MKKS):c.511A>G (p.Thr171Ala) GRCh37: Chr20:10393652 GRCh38: Chr20:10413004	MKKS	T171A	McKusick-Kaufman syndrome, Bardet-Biedl syndrome	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 200058760.	NM_170784.3(MKKS):c.1189C>G (p.Leu397Val) GRCh37: Chr20:10388347 GRCh38: Chr20:10407699	MKKS	L397V	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 199160961.	NM_170784.3(MKKS):c.1604G>A (p.Ser535Asn) GRCh37: Chr20:10386004 GRCh38: Chr20:10405356	MKKS	S535N	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 199119662.	NM_170784.3(MKKS):c.628A>G (p.Ile210Val) GRCh37: Chr20:10393535 GRCh38: Chr20:10412887	MKKS	I210V	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 198098163.	NM_170784.3(MKKS):c.602T>C (p.Ile201Thr) GRCh37: Chr20:10393561 GRCh38: Chr20:10412913	MKKS	I201T	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 197898364.	NM_170784.3(MKKS):c.825G>T (p.Gln275His) GRCh37: Chr20:10393338 GRCh38: Chr20:10412690	MKKS	Q275H	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 196908065.	NM_170784.3(MKKS):c.937A>G (p.Ile313Val) GRCh37: Chr20:10393226 GRCh38: Chr20:10412578	MKKS	I313V	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 196122266.	NM_170784.3(MKKS):c.164G>C (p.Cys55Ser) GRCh37: Chr20:10393999 GRCh38: Chr20:10413351	MKKS	C55S	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 193008567.	NM_170784.3(MKKS):c.1161+13_1161+19dup GRCh37: Chr20:10389256-10389257 GRCh38: Chr20:10408608-10408609	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 191514868.	NM_170784.3(MKKS):c.192C>T (p.Leu64=) GRCh37: Chr20:10393971 GRCh38: Chr20:10413323	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 189821869.	NM_170784.3(MKKS):c.335C>G (p.Thr112Arg) GRCh37: Chr20:10393828 GRCh38: Chr20:10413180	MKKS	T112R	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 189688970.	NM_170784.3(MKKS):c.1689A>G (p.Ser563=) GRCh37: Chr20:10385919 GRCh38: Chr20:10405271	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Aug 14, 2022)	criteria provided, single submitter
Select item 180389071.	NM_170784.3(MKKS):c.14A>C (p.Glu5Ala) GRCh37: Chr20:10394149 GRCh38: Chr20:10413501	MKKS	E5A	Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 180383572.	NM_170784.3(MKKS):c.109T>C (p.Tyr37His) GRCh37: Chr20:10394054 GRCh38: Chr20:10413406	MKKS	Y37H	Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome	Uncertain significance (Nov 10, 2020)	criteria provided, single submitter
Select item 171797273.	NM_170784.3(MKKS):c.746C>T (p.Ser249Phe) GRCh37: Chr20:10393417 GRCh38: Chr20:10412769	MKKS	S249F	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 171760074.	NM_170784.3(MKKS):c.1312T>G (p.Cys438Gly) GRCh37: Chr20:10386296 GRCh38: Chr20:10405648	MKKS	C438G	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 171573875.	NM_170784.3(MKKS):c.1447G>T (p.Asp483Tyr) GRCh37: Chr20:10386161 GRCh38: Chr20:10405513	MKKS	D483Y	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 171537776.	NM_170784.3(MKKS):c.1438G>A (p.Val480Ile) GRCh37: Chr20:10386170 GRCh38: Chr20:10405522	MKKS	V480I	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 169131477.	NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr) GRCh37: Chr20:10386118 GRCh38: Chr20:10405470	MKKS	C497Y	Bardet-Biedl syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome	Uncertain significance (Jun 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 168370078.	NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) GRCh37: Chr20:10393729-10393734 GRCh38: Chr20:10413081-10413086	MKKS	F144fs	McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6	Pathogenic/Likely pathogenic (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 165385579.	NM_170784.3(MKKS):c.1162-12del GRCh37: Chr20:10388386 GRCh38: Chr20:10407738	MKKS		McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 164994880.	NM_170784.3(MKKS):c.747C>T (p.Ser249=) GRCh37: Chr20:10393416 GRCh38: Chr20:10412768	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Jan 27, 2021)	criteria provided, single submitter
Select item 164816081.	NM_170784.3(MKKS):c.1578T>G (p.Leu526=) GRCh37: Chr20:10386030 GRCh38: Chr20:10405382	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 163948882.	NM_170784.3(MKKS):c.1164C>T (p.Leu388=) GRCh37: Chr20:10388372 GRCh38: Chr20:10407724	MKKS		McKusick-Kaufman syndrome, Bardet-Biedl syndrome	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 162457983.	NM_170784.3(MKKS):c.1272+18C>T GRCh37: Chr20:10388246 GRCh38: Chr20:10407598	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Nov 15, 2021)	criteria provided, single submitter
Select item 161339184.	NM_170784.3(MKKS):c.1464T>C (p.Ala488=) GRCh37: Chr20:10386144 GRCh38: Chr20:10405496	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 160320385.	NM_170784.3(MKKS):c.525T>C (p.Ser175=) GRCh37: Chr20:10393638 GRCh38: Chr20:10412990	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 159727986.	NM_170784.3(MKKS):c.783G>C (p.Val261=) GRCh37: Chr20:10393380 GRCh38: Chr20:10412732	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 158696087.	NM_170784.3(MKKS):c.1356T>C (p.Ser452=) GRCh37: Chr20:10386252 GRCh38: Chr20:10405604	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158087588.	NM_170784.3(MKKS):c.1272+17T>G GRCh37: Chr20:10388247 GRCh38: Chr20:10407599	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 157257589.	NM_170784.3(MKKS):c.210A>C (p.Thr70=) GRCh37: Chr20:10393953 GRCh38: Chr20:10413305	MKKS		Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156784690.	NM_170784.3(MKKS):c.985+13_985+14del GRCh37: Chr20:10393164-10393165 GRCh38: Chr20:10412516-10412517	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 156086391.	NM_170784.3(MKKS):c.1360C>T (p.Leu454=) GRCh37: Chr20:10386248 GRCh38: Chr20:10405600	MKKS		Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155956392.	NM_170784.3(MKKS):c.498C>T (p.Leu166=) GRCh37: Chr20:10393665 GRCh38: Chr20:10413017	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Jul 28, 2021)	criteria provided, single submitter
Select item 155700393.	NM_170784.3(MKKS):c.1599A>T (p.Ser533=) GRCh37: Chr20:10386009 GRCh38: Chr20:10405361	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 155692294.	NM_170784.3(MKKS):c.1008A>G (p.Leu336=) GRCh37: Chr20:10389429 GRCh38: Chr20:10408781	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 154561895.	NM_170784.3(MKKS):c.1572C>T (p.Ser524=) GRCh37: Chr20:10386036 GRCh38: Chr20:10405388	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 154511696.	NM_170784.3(MKKS):c.1104A>G (p.Ala368=) GRCh37: Chr20:10389333 GRCh38: Chr20:10408685	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (Mar 27, 2021)	criteria provided, single submitter
Select item 153897197.	NM_170784.3(MKKS):c.135G>A (p.Gln45=) GRCh37: Chr20:10394028 GRCh38: Chr20:10413380	MKKS		Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 152094198.	NM_170784.3(MKKS):c.1573dup (p.Cys525fs) GRCh37: Chr20:10386034-10386035 GRCh38: Chr20:10405386-10405387	MKKS	C525fs	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 152088499.	NM_170784.3(MKKS):c.251A>C (p.His84Pro) GRCh37: Chr20:10393912 GRCh38: Chr20:10413264	MKKS	H84P	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 1515123100.	NM_170784.3(MKKS):c.1470G>T (p.Trp490Cys) GRCh37: Chr20:10386138 GRCh38: Chr20:10405490	MKKS	W490C	Bardet-Biedl syndrome, McKusick-Kaufman syndrome	Uncertain significance (Aug 5, 2021)	criteria provided, single submitter

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