ClinVar for MedGen (Select 347182) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25022511.	NM_198428.3(BBS9):c.886+7A>G GRCh37: Chr7:33312814 GRCh38: Chr7:33273202	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 25022442.	NM_198428.3(BBS9):c.794A>G (p.Glu265Gly) GRCh37: Chr7:33312715 GRCh38: Chr7:33273103	BBS9	E143G, E174G, E220G, E265G	Bardet-Biedl syndrome 9	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 25022173.	NM_198428.3(BBS9):c.443-37371A>G GRCh37: Chr7:33259477 GRCh38: Chr7:33219865	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 24394824.	NM_198428.3(BBS9):c.2527T>C (p.Cys843Arg) GRCh37: Chr7:33644482 GRCh38: Chr7:33604870	BBS9	C660R, C686R, C717R, C721R, C752R, C798R, C803R, C808R, C838R, C843R	Bardet-Biedl syndrome 9	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 24131865.	NM_198428.3(BBS9):c.2113C>T (p.Gln705Ter) GRCh37: Chr7:33427754 GRCh38: Chr7:33388142	BBS9	Q548, Q579, Q583, Q614, Q660, Q665, Q670, Q700, Q705*	Bardet-Biedl syndrome 9	Likely pathogenic (Jan 10, 2023)	criteria provided, single submitter
Select item 18050286.	NM_198428.3(BBS9):c.328G>A (p.Gly110Arg) GRCh37: Chr7:33195314 GRCh38: Chr7:33155702	BBS9	G110R, G19R, G65R	Bardet-Biedl syndrome 9	Uncertain significance (May 6, 2021)	criteria provided, single submitter
Select item 18039177.	NM_198428.2:c.2115+21712_2521+234del	BBS9		Bardet-Biedl syndrome 9	Likely pathogenic (Jan 25, 2021)	criteria provided, single submitter
Select item 18038718.	NM_198428.3(BBS9):c.2521+951G>T GRCh37: Chr7:33574739 GRCh38: Chr7:33535127	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 18038709.	NM_198428.3(BBS9):c.1790-1091A>G GRCh37: Chr7:33422187 GRCh38: Chr7:33382575	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Oct 19, 2021)	criteria provided, single submitter
Select item 168556510.	NM_198428.3(BBS9):c.702+1G>A GRCh37: Chr7:33303987 GRCh38: Chr7:33264375	BBS9		Bardet-Biedl syndrome 9	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 166435911.	NM_198428.3(BBS9):c.531C>T (p.Gly177=) GRCh37: Chr7:33296936 GRCh38: Chr7:33257324	BBS9		Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165804412.	NM_198428.3(BBS9):c.2633-15T>C GRCh37: Chr7:33644792 GRCh38: Chr7:33605180	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Likely benign (Nov 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 165098113.	NM_198428.3(BBS9):c.886+14T>G GRCh37: Chr7:33312821 GRCh38: Chr7:33273209	BBS9		Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Likely benign (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163691414.	NM_198428.3(BBS9):c.2115+17dup GRCh37: Chr7:33427772-33427773 GRCh38: Chr7:33388160-33388161	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Likely benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162028715.	NM_198428.3(BBS9):c.2115+20C>T GRCh37: Chr7:33427776 GRCh38: Chr7:33388164	BBS9		Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161720516.	NM_198428.3(BBS9):c.1790-7C>T GRCh37: Chr7:33423271 GRCh38: Chr7:33383659	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Likely benign (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159783717.	NM_198428.3(BBS9):c.2487C>T (p.Thr829=) GRCh37: Chr7:33573754 GRCh38: Chr7:33534142	BBS9		Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Likely benign (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157607818.	NM_198428.3(BBS9):c.2115+19A>G GRCh37: Chr7:33427775 GRCh38: Chr7:33388163	BBS9		Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153420519.	NM_198428.3(BBS9):c.1377C>T (p.Val459=) GRCh37: Chr7:33388727 GRCh38: Chr7:33349115	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Likely benign (Jul 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150196320.	NM_198428.3(BBS9):c.20G>A (p.Arg7His) GRCh37: Chr7:33185884 GRCh38: Chr7:33146272	BBS9	R7H	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149604121.	NM_198428.3(BBS9):c.2294_2296del (p.Glu765_Leu766delinsVal) GRCh37: Chr7:33545253-33545255 GRCh38: Chr7:33505641-33505643	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149010322.	NM_198428.3(BBS9):c.1111G>A (p.Val371Ile) GRCh37: Chr7:33376147 GRCh38: Chr7:33336535	BBS9	V371I, V326I, V249I, V280I	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148671723.	NM_198428.3(BBS9):c.1033A>G (p.Ile345Val) GRCh37: Chr7:33376069 GRCh38: Chr7:33336457	BBS9	I300V, I345V, I254V, I223V	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148549224.	NM_198428.3(BBS9):c.833G>A (p.Arg278Gln) GRCh37: Chr7:33312754 GRCh38: Chr7:33273142	BBS9	R278Q, R187Q, R156Q, R233Q	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148341225.	NM_198428.3(BBS9):c.1245C>A (p.Val415=) GRCh37: Chr7:33380555 GRCh38: Chr7:33340943	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146555126.	NM_198428.3(BBS9):c.1855C>T (p.Arg619Cys) GRCh37: Chr7:33423343 GRCh38: Chr7:33383731	BBS9	R493C, R497C, R528C, R584C, R614C, R574C, R619C, R462C, R579C	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143402227.	NM_198428.3(BBS9):c.1798C>T (p.Arg600Cys) GRCh37: Chr7:33423286 GRCh38: Chr7:33383674	BBS9	R509C, R600C, R478C, R560C, R443C, R474C, R555C, R565C, R595C	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141214128.	NM_198428.3(BBS9):c.1801A>G (p.Ile601Val) GRCh37: Chr7:33423289 GRCh38: Chr7:33383677	BBS9	I444V, I475V, I479V, I566V, I601V, I510V, I556V, I561V, I596V	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139940729.	NM_198428.3(BBS9):c.2533A>G (p.Thr845Ala) GRCh37: Chr7:33644488 GRCh38: Chr7:33604876	BBS9	T723A, T688A, T800A, T805A, T810A, T845A, T719A, T754A, T662A, T840A	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139901430.	NM_198428.3(BBS9):c.563C>T (p.Ser188Phe) GRCh37: Chr7:33296968 GRCh38: Chr7:33257356	BBS9	S188F, S97F, S143F, S66F	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Dec 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 139818731.	NM_198428.3(BBS9):c.2080C>T (p.His694Tyr) GRCh37: Chr7:33427721 GRCh38: Chr7:33388109	BBS9	H568Y, H654Y, H572Y, H603Y, H689Y, H537Y, H659Y, H649Y, H694Y	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 139718732.	NM_198428.3(BBS9):c.559A>G (p.Ser187Gly) GRCh37: Chr7:33296964 GRCh38: Chr7:33257352	BBS9	S142G, S187G, S96G, S65G	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Apr 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139585033.	NM_198428.3(BBS9):c.335T>C (p.Leu112Ser) GRCh37: Chr7:33217096 GRCh38: Chr7:33177484	BBS9	L67S, L112S, L21S	Inborn genetic diseases, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Apr 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 139250234.	NM_198428.3(BBS9):c.529G>T (p.Gly177Cys) GRCh37: Chr7:33296934 GRCh38: Chr7:33257322	BBS9	G132C, G55C, G177C, G86C	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138173435.	NM_198428.3(BBS9):c.702+6G>A GRCh37: Chr7:33303992 GRCh38: Chr7:33264380	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Oct 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134465336.	NM_198428.3(BBS9):c.542C>G (p.Pro181Arg) GRCh37: Chr7:33296947 GRCh38: Chr7:33257335	BBS9	P136R, P181R, P59R, P90R	Bardet-Biedl syndrome 9	Pathogenic (Feb 14, 2019)	no assertion criteria provided
Select item 134259337.	NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter) GRCh37: Chr7:33392473 GRCh38: Chr7:33352861	BBS9	R357, R388, R392, R423, R469, R479, R514*	Bardet-Biedl syndrome 9	Likely pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 119238138.	NM_198428.3(BBS9):c.1330-62C>T GRCh37: Chr7:33388618 GRCh38: Chr7:33349006	BBS9		not provided, Bardet-Biedl syndrome 9	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117500939.	NM_198428.3(BBS9):c.1468del (p.Tyr490fs) GRCh37: Chr7:33390864 GRCh38: Chr7:33351252	BBS9	Y368fs, Y399fs, Y445fs, Y490fs	Bardet-Biedl syndrome 9	Likely pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 116883640.	NM_198428.3(BBS9):c.1276-17C>T GRCh37: Chr7:33384176 GRCh38: Chr7:33344564	BBS9		Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Benign/Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116762241.	NM_198428.3(BBS9):c.702+15dup GRCh37: Chr7:33303994-33303995 GRCh38: Chr7:33264382-33264383	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Benign/Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113597942.	NM_198428.3(BBS9):c.195C>A (p.Ala65=) GRCh37: Chr7:33192395 GRCh38: Chr7:33152783	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Likely benign (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112908943.	NM_198428.3(BBS9):c.2022G>T (p.Arg674=) GRCh37: Chr7:33427663 GRCh38: Chr7:33388051	BBS9		Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111866644.	NM_198428.3(BBS9):c.1198+13C>T GRCh37: Chr7:33376247 GRCh38: Chr7:33336635	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111374245.	NM_198428.3(BBS9):c.1464T>C (p.Ser488=) GRCh37: Chr7:33390862 GRCh38: Chr7:33351250	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Likely benign (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111048746.	NM_198428.3(BBS9):c.2313G>A (p.Thr771=) GRCh37: Chr7:33573580 GRCh38: Chr7:33533968	BBS9		Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109325947.	NM_198428.3(BBS9):c.1790-17T>C GRCh37: Chr7:33423261 GRCh38: Chr7:33383649	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Likely benign (Aug 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107483048.	NM_198428.3(BBS9):c.1789C>T (p.Gln597Ter) GRCh37: Chr7:33407474 GRCh38: Chr7:33367862	BBS9	Q440, Q471, Q475, Q506, Q552, Q557, Q562, Q592, Q597*	Abnormality of the eye, Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Pathogenic (Dec 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107468049.	NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs) GRCh37: Chr7:33427642-33427643 GRCh38: Chr7:33388030-33388031	BBS9	A513fs, A544fs, A548fs, A579fs, A625fs, A630fs, A635fs, A665fs, A670fs	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Pathogenic/Likely pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107336750.	NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter) GRCh37: Chr7:33390872 GRCh38: Chr7:33351260	BBS9	K370, K401, K447, K492	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Pathogenic/Likely pathogenic (Dec 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106408251.	NM_198428.3(BBS9):c.122T>G (p.Ile41Ser) GRCh37: Chr7:33192322 GRCh38: Chr7:33152710	BBS9	I41S	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106275452.	NM_198428.3(BBS9):c.2033G>A (p.Arg678His) GRCh37: Chr7:33427674 GRCh38: Chr7:33388062	BBS9	R521H, R552H, R556H, R587H, R633H, R638H, R643H, R673H, R678H	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106024753.	NM_198428.3(BBS9):c.894A>C (p.Glu298Asp) GRCh37: Chr7:33313446 GRCh38: Chr7:33273834	BBS9	E176D, E207D, E253D, E298D	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105187354.	NM_198428.3(BBS9):c.862A>G (p.Ser288Gly) GRCh37: Chr7:33312783 GRCh38: Chr7:33273171	BBS9	S166G, S197G, S243G, S288G	Bardet-Biedl syndrome 9, Inborn genetic diseases, Bardet-Biedl syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104909755.	NM_198428.3(BBS9):c.1352T>C (p.Ile451Thr) GRCh37: Chr7:33388702 GRCh38: Chr7:33349090	BBS9	I329T, I360T, I406T, I451T	Inborn genetic diseases, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (May 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 104497556.	NM_198428.3(BBS9):c.1844A>G (p.Glu615Gly) GRCh37: Chr7:33423332 GRCh38: Chr7:33383720	BBS9	E524G, E575G, E489G, E493G, E580G, E610G, E458G, E570G, E615G	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Nov 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103677557.	NM_198428.3(BBS9):c.2449G>A (p.Asp817Asn) GRCh37: Chr7:33573716 GRCh38: Chr7:33534104	BBS9	D817N, D660N, D726N, D772N, D634N, D691N, D695N, D777N, D782N, D812N	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103098258.	NM_198428.3(BBS9):c.1016+5G>T GRCh37: Chr7:33313573 GRCh38: Chr7:33273961	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Jun 3, 2020)	criteria provided, single submitter
Select item 101729759.	NM_198428.3(BBS9):c.1431G>A (p.Met477Ile) GRCh37: Chr7:33388781 GRCh38: Chr7:33349169	BBS9	M355I, M386I, M432I, M477I	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101592560.	NM_198428.3(BBS9):c.2186G>A (p.Ser729Asn) GRCh37: Chr7:33545145 GRCh38: Chr7:33505533	BBS9	S572N, S603N, S607N, S638N, S684N, S689N, S694N, S724N, S729N	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101551061.	NM_198428.3(BBS9):c.2174C>T (p.Thr725Ile) GRCh37: Chr7:33545133 GRCh38: Chr7:33505521	BBS9	T568I, T599I, T603I, T634I, T680I, T685I, T690I, T720I, T725I	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100787262.	NM_198428.3(BBS9):c.1370T>C (p.Leu457Ser) GRCh37: Chr7:33388720 GRCh38: Chr7:33349108	BBS9	L335S, L366S, L412S, L457S	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Oct 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98310563.	NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter) GRCh37: Chr7:33376174 GRCh38: Chr7:33336562	BBS9	E258, E289, E335, E380	Bardet-Biedl syndrome 9	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 98309464.	NM_198428.3(BBS9):c.190C>T (p.Gln64Ter) GRCh37: Chr7:33192390 GRCh38: Chr7:33152778	BBS9	Q19, Q64	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Pathogenic (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97506065.	NM_198428.3(BBS9):c.214del (p.Val72fs) GRCh37: Chr7:33192414 GRCh38: Chr7:33152802	BBS9	V27fs, V72fs	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Pathogenic/Likely pathogenic (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97161466.	NM_198428.3(BBS9):c.761A>G (p.Asn254Ser) GRCh37: Chr7:33312682 GRCh38: Chr7:33273070	BBS9	N132S, N163S, N209S, N254S	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, not provided	Uncertain significance (Jan 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 97112067.	NM_198428.3(BBS9):c.2365A>G (p.Lys789Glu) GRCh37: Chr7:33573632 GRCh38: Chr7:33534020	BBS9	K606E, K632E, K754E, K784E, K663E, K744E, K698E, K749E, K789E, K667E	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9, Inborn genetic diseases	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96823268.	NM_198428.3(BBS9):c.1836A>G (p.Ile612Met) GRCh37: Chr7:33423324 GRCh38: Chr7:33383712	BBS9	I490M, I567M, I607M, I577M, I612M, I572M, I455M, I486M, I521M	Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome 9	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 96815569.	NM_198428.3(BBS9):c.928A>G (p.Asn310Asp) GRCh37: Chr7:33313480 GRCh38: Chr7:33273868	BBS9	N219D, N265D, N310D, N188D	not provided, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96727970.	NM_198428.3(BBS9):c.1199G>A (p.Gly400Asp) GRCh37: Chr7:33380509 GRCh38: Chr7:33340897	BBS9	G400D, G278D, G309D, G355D	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96727371.	NM_198428.3(BBS9):c.1147G>A (p.Val383Ile) GRCh37: Chr7:33376183 GRCh38: Chr7:33336571	BBS9	V261I, V338I, V292I, V383I	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95838972.	NM_198428.3(BBS9):c.2434A>T (p.Ile812Phe) GRCh37: Chr7:33573701 GRCh38: Chr7:33534089	BBS9	I690F, I721F, I655F, I686F, I767F, I777F, I807F, I629F, I772F, I812F	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94797273.	NM_198428.3(BBS9):c.1741C>T (p.His581Tyr) GRCh37: Chr7:33407426 GRCh38: Chr7:33367814	BBS9	H536Y, H541Y, H576Y, H459Y, H490Y, H455Y, H546Y, H424Y, H581Y	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93506974.	NM_198428.3(BBS9):c.2098G>A (p.Asp700Asn) GRCh37: Chr7:33427739 GRCh38: Chr7:33388127	BBS9	D574N, D578N, D655N, D665N, D695N, D700N, D543N, D609N, D660N	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Nov 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93417975.	NM_198428.3(BBS9):c.2381A>G (p.Asn794Ser) GRCh37: Chr7:33573648 GRCh38: Chr7:33534036	BBS9	N668S, N749S, N789S, N794S, N703S, N637S, N759S, N611S, N672S, N754S	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91220976.	NM_198428.3(BBS9):c.2273C>T (p.Pro758Leu) GRCh37: Chr7:33545232 GRCh38: Chr7:33505620	BBS9	P601L, P632L, P636L, P667L, P723L, P753L, P713L, P718L, P758L	not provided, Bardet-Biedl syndrome 9	Uncertain significance (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91214677.	NM_198428.3(BBS9):c.1236C>T (p.Asn412=) GRCh37: Chr7:33380546 GRCh38: Chr7:33340934	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 91214578.	NM_198428.3(BBS9):c.1210A>G (p.Met404Val) GRCh37: Chr7:33380520 GRCh38: Chr7:33340908	BBS9	M282V, M359V, M313V, M404V	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Jun 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91103979.	NM_198428.3(BBS9):c.*801G>A GRCh37: Chr7:33645639 GRCh38: Chr7:33606027	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91103880.	NM_198428.3(BBS9):c.*729C>T GRCh37: Chr7:33645567 GRCh38: Chr7:33605955	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91103781.	NM_198428.3(BBS9):c.*585C>T GRCh37: Chr7:33645423 GRCh38: Chr7:33605811	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91098182.	NM_198428.3(BBS9):c.2211G>A (p.Leu737=) GRCh37: Chr7:33545170 GRCh38: Chr7:33505558	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 91098083.	NM_198428.3(BBS9):c.2044G>A (p.Ala682Thr) GRCh37: Chr7:33427685 GRCh38: Chr7:33388073	BBS9	A637T, A556T, A591T, A525T, A677T, A682T, A560T, A642T, A647T	Bardet-Biedl syndrome 9	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91097984.	NM_198428.3(BBS9):c.2032C>T (p.Arg678Cys) GRCh37: Chr7:33427673 GRCh38: Chr7:33388061	BBS9	R643C, R673C, R638C, R521C, R633C, R678C, R552C, R556C, R587C	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91091885.	NM_198428.3(BBS9):c.1052A>T (p.Asp351Val) GRCh37: Chr7:33376088 GRCh38: Chr7:33336476	BBS9	D351V, D229V, D260V, D306V	Bardet-Biedl syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91091786.	NM_198428.3(BBS9):c.938A>G (p.His313Arg) GRCh37: Chr7:33313490 GRCh38: Chr7:33273878	BBS9	H191R, H222R, H268R, H313R	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Dec 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91091687.	NM_198428.3(BBS9):c.715C>T (p.Leu239=) GRCh37: Chr7:33312636 GRCh38: Chr7:33273024	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Conflicting interpretations of pathogenicity (Sep 11, 2020)	criteria provided, conflicting interpretations
Select item 91014888.	NM_198428.3(BBS9):c.*406A>G GRCh37: Chr7:33645244 GRCh38: Chr7:33605632	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91014789.	NM_198428.3(BBS9):c.*337C>T GRCh37: Chr7:33645175 GRCh38: Chr7:33605563	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91014690.	NM_198428.3(BBS9):c.*323A>G GRCh37: Chr7:33645161 GRCh38: Chr7:33605549	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91008391.	NM_198428.3(BBS9):c.1897G>A (p.Ala633Thr) GRCh37: Chr7:33423385 GRCh38: Chr7:33383773	BBS9	A507T, A633T, A476T, A542T, A588T, A593T, A511T, A598T, A628T	Bardet-Biedl syndrome 9	Uncertain significance (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91008292.	NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln) GRCh37: Chr7:33407445 GRCh38: Chr7:33367833	BBS9	R461Q, R496Q, R542Q, R582Q, R587Q, R465Q, R430Q, R547Q, R552Q	not specified, Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91008193.	NM_198428.3(BBS9):c.1611A>C (p.Pro537=) GRCh37: Chr7:33397525 GRCh38: Chr7:33357913	BBS9		Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Conflicting interpretations of pathogenicity (Feb 22, 2022)	criteria provided, conflicting interpretations
Select item 90820794.	NM_198428.3(BBS9):c.*12T>C GRCh37: Chr7:33644850 GRCh38: Chr7:33605238	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90820695.	NM_198428.3(BBS9):c.2509A>G (p.Met837Val) GRCh37: Chr7:33573776 GRCh38: Chr7:33534164	BBS9	M680V, M832V, M654V, M746V, M837V, M715V, M792V, M797V, M711V, M802V	Bardet-Biedl syndrome, Bardet-Biedl syndrome 9	Uncertain significance (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90813296.	NM_198428.3(BBS9):c.1537+14C>T GRCh37: Chr7:33390949 GRCh38: Chr7:33351337	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90813197.	NM_198428.3(BBS9):c.1329+5T>C GRCh37: Chr7:33384251 GRCh38: Chr7:33344639	BBS9		Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90806798.	NM_198428.3(BBS9):c.-206T>G GRCh37: Chr7:33169459 GRCh38: Chr7:33129847	BBS9		Bardet-Biedl syndrome 9	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87350999.	NM_198428.3(BBS9):c.1870_1872del (p.Phe624del) GRCh37: Chr7:33423357-33423359 GRCh38: Chr7:33383745-33383747	BBS9	F498del, F502del, F579del, F533del, F467del, F584del, F589del, F619del, F624del	Bardet-Biedl syndrome 9	Uncertain significance (Jan 22, 2020)	criteria provided, single submitter
Select item 873508100.	NM_198428.3(BBS9):c.1645A>G (p.Thr549Ala) GRCh37: Chr7:33397559 GRCh38: Chr7:33357947	BBS9	T427A, T514A, T509A, T423A, T392A, T458A, T504A, T544A, T549A	Bardet-Biedl syndrome 9, Bardet-Biedl syndrome	Uncertain significance (Feb 6, 2022)	criteria provided, multiple submitters, no conflicts

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