ClinVar for MedGen (Select 422452) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25029071.	NM_031885.5(BBS2):c.1528G>T (p.Val510Phe) GRCh37: Chr16:56532480 GRCh38: Chr16:56498568	BBS2	V510F	Bardet-Biedl syndrome 1	Likely pathogenic (May 10, 2023)	no assertion criteria provided
Select item 25029062.	NM_152618.3(BBS12):c.1685del (p.Asn562fs) GRCh37: Chr4:123664729 GRCh38: Chr4:122743574	BBS12	N562fs	Bardet-Biedl syndrome 1	Pathogenic (May 10, 2023)	no assertion criteria provided
Select item 25029053.	GRCh37/hg19 11q13.2(chr11:66274870-66292647)x1 GRCh37: Chr11:66274870-66292647	BBS1, DPP3		Bardet-Biedl syndrome 1	Pathogenic (May 10, 2023)	no assertion criteria provided
Select item 25029044.	NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln) GRCh37: Chr15:76726437 GRCh38: Chr15:76434096	LOC126862183, SCAPER	R1098Q, R1104Q, R852Q, R964Q, R970Q	Bardet-Biedl syndrome 1	Uncertain significance (May 10, 2023)	no assertion criteria provided
Select item 25029035.	GRCh37/hg19 15q24.1(chr15:73000552-73006857)x1 GRCh37: Chr15:73000552-73006857	BBS4		Bardet-Biedl syndrome 1	Pathogenic (May 10, 2023)	no assertion criteria provided
Select item 24394736.	NM_024649.5(BBS1):c.480-28G>C GRCh37: Chr11:66283136 GRCh38: Chr11:66515665	BBS1		Bardet-Biedl syndrome 1	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 18039267.	NM_024649.5(BBS1):c.1339+163G>A GRCh37: Chr11:66294441 GRCh38: Chr11:66526970	BBS1, ZDHHC24	T258M	Bardet-Biedl syndrome 1	Uncertain significance (Apr 28, 2021)	criteria provided, single submitter
Select item 17264568.	NM_024649.5(BBS1):c.734_735del (p.Pro245fs) GRCh37: Chr11:66288750-66288751 GRCh38: Chr11:66521279-66521280	BBS1, ZDHHC24	P245fs	Bardet-Biedl syndrome 1	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 17261449.	NM_024649.5(BBS1):c.434dup (p.Asp145fs) GRCh37: Chr11:66283011-66283012 GRCh38: Chr11:66515540-66515541	BBS1	D145fs	Bardet-Biedl syndrome 1	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172526710.	NM_024649.5(BBS1):c.1253del (p.Pro418fs) GRCh37: Chr11:66294188 GRCh38: Chr11:66526717	ZDHHC24, BBS1	P418fs	Bardet-Biedl syndrome 1	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172499911.	NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter) GRCh37: Chr11:66298389 GRCh38: Chr11:66530918	BBS1, ZDHHC24	K500*	Bardet-Biedl syndrome 1	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 172468512.	NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs) GRCh37: Chr11:66294152-66294153 GRCh38: Chr11:66526681-66526682	ZDHHC24, BBS1	T405fs	Bardet-Biedl syndrome 1	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172444713.	NM_024649.5(BBS1):c.1009del (p.Glu337fs) GRCh37: Chr11:66291251 GRCh38: Chr11:66523780	BBS1, ZDHHC24	E337fs	Bardet-Biedl syndrome 1	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172423114.	NM_024649.5(BBS1):c.966G>A (p.Trp322Ter) GRCh37: Chr11:66291209 GRCh38: Chr11:66523738	BBS1, ZDHHC24	W322*	Bardet-Biedl syndrome 1	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 167863715.	NM_024649.5(BBS1):c.830+72A>G GRCh37: Chr11:66288919 GRCh38: Chr11:66521448	BBS1, ZDHHC24		Bardet-Biedl syndrome 1	Uncertain significance (Nov 30, 2020)	criteria provided, single submitter
Select item 163979016.	NM_024649.5(BBS1):c.432+17G>C GRCh37: Chr11:66282166 GRCh38: Chr11:66514695	BBS1		Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162504217.	NM_024649.5(BBS1):c.479+20T>C GRCh37: Chr11:66283077 GRCh38: Chr11:66515606	BBS1		Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160656418.	NM_033028.5(BBS4):c.332+8T>C GRCh37: Chr15:73007751 GRCh38: Chr15:72715410	BBS4		Bardet-Biedl syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 160552019.	NM_024649.5(BBS1):c.606C>T (p.Thr202=) GRCh37: Chr11:66287102 GRCh38: Chr11:66519631	BBS1		Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Likely benign (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157891520.	NM_024649.5(BBS1):c.830+12del GRCh37: Chr11:66288858 GRCh38: Chr11:66521387	BBS1, ZDHHC24		Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Likely benign (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151716421.	NM_001278293.3(ARL6):c.143T>A (p.Leu48His) GRCh37: Chr3:97499022 GRCh38: Chr3:97780178	ARL6	L48H	Retinitis pigmentosa 55, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 3, Retinitis pigmentosa, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150487422.	NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) GRCh37: Chr11:66299434 GRCh38: Chr11:66531963	BBS1, ZDHHC24	R570*	Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Pathogenic/Likely pathogenic (Feb 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149060323.	NM_024649.5(BBS1):c.808G>A (p.Gly270Arg) GRCh37: Chr11:66288825 GRCh38: Chr11:66521354	BBS1, ZDHHC24	G270R	Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Uncertain significance (Jan 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147721524.	NM_152384.3(BBS5):c.226A>G (p.Ile76Val) GRCh37: Chr2:170344333 GRCh38: Chr2:169487823	BBS5	I76V	Bardet-Biedl syndrome	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 145045925.	NM_024649.5(BBS1):c.1474G>T (p.Val492Phe) GRCh37: Chr11:66298365 GRCh38: Chr11:66530894	BBS1, ZDHHC24	V492F	Bardet-Biedl syndrome 1, Inborn genetic diseases, Bardet-Biedl syndrome	Uncertain significance (May 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144580026.	NM_024649.5(BBS1):c.43G>A (p.Glu15Lys) GRCh37: Chr11:66278173 GRCh38: Chr11:66510702	BBS1	E15K	Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144493227.	NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln) GRCh37: Chr11:66297398 GRCh38: Chr11:66529927	ZDHHC24, BBS1	R483Q	Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144026628.	NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp) GRCh37: Chr11:66294233 GRCh38: Chr11:66526762	BBS1, ZDHHC24	R432W	Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Uncertain significance (Feb 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144016529.	NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs) GRCh37: Chr4:123664437-123664440 GRCh38: Chr4:122743282-122743285	BBS12	C464fs	Bardet-Biedl syndrome	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 143436130.	NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn) GRCh37: Chr11:66293658 GRCh38: Chr11:66526187	BBS1, ZDHHC24	T392N	Inborn genetic diseases, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Uncertain significance (Jun 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141991931.	NM_024649.5(BBS1):c.1471G>A (p.Val491Met) GRCh37: Chr11:66297421 GRCh38: Chr11:66529950	BBS1, ZDHHC24	V491M	Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141780932.	NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr) GRCh37: Chr11:66299503 GRCh38: Chr11:66532032	BBS1, ZDHHC24	A593T	Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Uncertain significance (Sep 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140105533.	NM_024649.5(BBS1):c.199C>T (p.Arg67Cys) GRCh37: Chr11:66281916 GRCh38: Chr11:66514445	BBS1	R67C	Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138228434.	NM_024649.5(BBS1):c.316C>T (p.Leu106Phe) GRCh37: Chr11:66282033 GRCh38: Chr11:66514562	BBS1	L106F	Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Uncertain significance (May 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137936635.	NM_024649.5(BBS1):c.1752G>A (p.Met584Ile) GRCh37: Chr11:66299478 GRCh38: Chr11:66532007	BBS1, ZDHHC24	M584I	Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Uncertain significance (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137907036.	NM_024649.5(BBS1):c.10G>T (p.Ala4Ser) GRCh37: Chr11:66278140 GRCh38: Chr11:66510669	BBS1	A4S	Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135912637.	NM_024649.5(BBS1):c.88C>A (p.Pro30Thr) GRCh37: Chr11:66278524 GRCh38: Chr11:66511053	BBS1	P30T	Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133933438.	NM_024649.5(BBS1):c.130del (p.Ala44fs) GRCh37: Chr11:66278680 GRCh38: Chr11:66511209	BBS1	A44fs	Bardet-Biedl syndrome 1	Likely pathogenic	criteria provided, single submitter
Select item 133933139.	NM_024649.5(BBS1):c.908T>C (p.Val303Ala) GRCh37: Chr11:66291004 GRCh38: Chr11:66523533	BBS1, ZDHHC24	V303A	Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133607640.	NM_024649.5(BBS1):c.802C>T (p.Arg268Cys) GRCh37: Chr11:66288819 GRCh38: Chr11:66521348	BBS1, ZDHHC24	R268C	not specified, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133416641.	NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser) GRCh37: Chr11:66293604 GRCh38: Chr11:66526133	BBS1, ZDHHC24	T374S	Bardet-Biedl syndrome 1	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 132429242.	NM_024649.5(BBS1):c.47+1G>T GRCh37: Chr11:66278178 GRCh38: Chr11:66510707	BBS1		Bardet-Biedl syndrome 1	Pathogenic (May 26, 2021)	criteria provided, single submitter
Select item 131900943.	NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe) GRCh37: Chr3:97510664 GRCh38: Chr3:97791820	ARL6	L177F	not provided, Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 3, Retinitis pigmentosa, Retinitis pigmentosa 55	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129958144.	NM_024649.5(BBS1):c.752del (p.Leu251fs) GRCh37: Chr11:66288769 GRCh38: Chr11:66521298	BBS1, ZDHHC24	L251fs	Bardet-Biedl syndrome 1	Pathogenic (Oct 5, 2021)	criteria provided, single submitter
Select item 129958045.	NM_024649.5(BBS1):c.48-1G>A GRCh37: Chr11:66278483 GRCh38: Chr11:66511012	BBS1		Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Pathogenic (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119596946.	NM_024649.5(BBS1):c.277C>T (p.Leu93Phe) GRCh37: Chr11:66281994 GRCh38: Chr11:66514523	BBS1	L93F	Inborn genetic diseases, Bardet-Biedl syndrome 1	Uncertain significance (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119235247.	NM_024649.5(BBS1):c.1608+95C>T GRCh37: Chr11:66298594 GRCh38: Chr11:66531123	BBS1, ZDHHC24		not provided, Bardet-Biedl syndrome 1	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118059248.	NM_024649.5(BBS1):c.1180+116T>C GRCh37: Chr11:66293779 GRCh38: Chr11:66526308	BBS1, ZDHHC24		Bardet-Biedl syndrome 1	Benign (Jul 10, 2021)	criteria provided, single submitter
Select item 118058749.	NM_024649.5(BBS1):c.518+55C>T GRCh37: Chr11:66283257 GRCh38: Chr11:66515786	BBS1		not provided, Bardet-Biedl syndrome 1	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118058650.	NM_024649.5(BBS1):c.-72C>G GRCh37: Chr11:66278059 GRCh38: Chr11:66510588	BBS1		not provided, Bardet-Biedl syndrome 1	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 115192251.	NM_024649.5(BBS1):c.684C>T (p.Leu228=) GRCh37: Chr11:66287180 GRCh38: Chr11:66519709	BBS1		Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113697852.	NM_024649.5(BBS1):c.1470C>T (p.Ala490=) GRCh37: Chr11:66297420 GRCh38: Chr11:66529949	BBS1, ZDHHC24		Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112193953.	NM_024649.5(BBS1):c.1474-14C>T GRCh37: Chr11:66298351 GRCh38: Chr11:66530880	BBS1, ZDHHC24		Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Likely benign (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111357054.	NM_001278293.3(ARL6):c.432T>A (p.Ser144=) GRCh37: Chr3:97506916 GRCh38: Chr3:97788072	ARL6		Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 3, Retinitis pigmentosa, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, Retinitis pigmentosa 55	Likely benign (Dec 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 111046455.	NM_024649.5(BBS1):c.1776C>T (p.Ala592=) GRCh37: Chr11:66299502 GRCh38: Chr11:66532031	BBS1, ZDHHC24		Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Likely benign (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110393156.	NM_024649.5(BBS1):c.1554G>T (p.Leu518=) GRCh37: Chr11:66298445 GRCh38: Chr11:66530974	BBS1, ZDHHC24		Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Likely benign (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107900857.	NM_024649.5(BBS1):c.33C>A (p.Ala11=) GRCh37: Chr11:66278163 GRCh38: Chr11:66510692	BBS1		Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107553958.	NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter) GRCh37: Chr3:97486955 GRCh38: Chr3:97768111	ARL6	G2*	Bardet-Biedl syndrome 1, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3	Pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106572859.	NM_024649.5(BBS1):c.227T>A (p.Val76Glu) GRCh37: Chr11:66281944 GRCh38: Chr11:66514473	BBS1	V76E	Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106185360.	NM_024649.5(BBS1):c.602C>T (p.Thr201Ile) GRCh37: Chr11:66287098 GRCh38: Chr11:66519627	BBS1	T201I	Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106067061.	NM_001128178.3(NPHP1):c.1462A>G (p.Met488Val) GRCh37: Chr2:110901186 GRCh38: Chr2:110143609	NPHP1	M425V, M487V, M488V, M543V, M544V	Nephronophthisis, Nephronophthisis 1, Joubert syndrome with renal defect, Senior-Loken syndrome 1	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105853862.	NM_024649.5(BBS1):c.634G>A (p.Asp212Asn) GRCh37: Chr11:66287130 GRCh38: Chr11:66519659	BBS1	D212N	Bardet-Biedl syndrome	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 105804463.	NM_024649.5(BBS1):c.274T>C (p.Phe92Leu) GRCh37: Chr11:66281991 GRCh38: Chr11:66514520	BBS1	F92L	Bardet-Biedl syndrome	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 105329264.	NM_024649.5(BBS1):c.587G>A (p.Arg196Gln) GRCh37: Chr11:66283400 GRCh38: Chr11:66515929	BBS1	R196Q	Bardet-Biedl syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 105103365.	NM_024649.5(BBS1):c.910G>T (p.Val304Leu) GRCh37: Chr11:66291006 GRCh38: Chr11:66523535	BBS1, ZDHHC24	V304L	Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Uncertain significance (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104718966.	NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu) GRCh37: Chr11:66299146 GRCh38: Chr11:66531675	ZDHHC24, BBS1	G543E	Bardet-Biedl syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 104054067.	NM_024649.5(BBS1):c.595G>A (p.Val199Ile) GRCh37: Chr11:66287091 GRCh38: Chr11:66519620	BBS1	V199I	Bardet-Biedl syndrome, Bardet-Biedl syndrome 1	Uncertain significance (Sep 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103793068.	NM_024649.5(BBS1):c.646G>A (p.Val216Met) GRCh37: Chr11:66287142 GRCh38: Chr11:66519671	BBS1	V216M	Bardet-Biedl syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 103732469.	NM_024649.5(BBS1):c.1006C>G (p.Leu336Val) GRCh37: Chr11:66291249 GRCh38: Chr11:66523778	BBS1, ZDHHC24	L336V	Bardet-Biedl syndrome	Uncertain significance (Dec 1, 2021)	criteria provided, single submitter
Select item 102883570.	NM_024649.5(BBS1):c.951+1G>T GRCh37: Chr11:66291048 GRCh38: Chr11:66523577	BBS1, ZDHHC24		Bardet-Biedl syndrome 1	Pathogenic (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102651371.	NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp) GRCh37: Chr11:66291297 GRCh38: Chr11:66523826	ZDHHC24, BBS1	N352D	Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102460772.	NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys) GRCh37: Chr3:97487000 GRCh38: Chr3:97768156	ARL6	E17K	Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3, Retinitis pigmentosa, Bardet-Biedl syndrome 1, Inborn genetic diseases	Uncertain significance (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102385073.	NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln) GRCh37: Chr2:27688727 GRCh38: Chr2:27465860	IFT172	R572Q	Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71, Bardet-Biedl syndrome 20, Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101712874.	NM_024649.5(BBS1):c.280A>G (p.Met94Val) GRCh37: Chr11:66281997 GRCh38: Chr11:66514526	BBS1	M94V	Bardet-Biedl syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 101456375.	NM_024649.5(BBS1):c.1181-3T>G GRCh37: Chr11:66294117 GRCh38: Chr11:66526646	BBS1, ZDHHC24		Bardet-Biedl syndrome	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 100308376.	NM_024649.5(BBS1):c.1067G>A (p.Arg356His) GRCh37: Chr11:66291310 GRCh38: Chr11:66523839	ZDHHC24, BBS1	R356H	Bardet-Biedl syndrome	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 99049677.	NM_024649.5(BBS1):c.13_21dup GRCh37: Chr11:66299518-66299519 GRCh38: Chr11:66532047-66532048	BBS1, ZDHHC24		Bardet-Biedl syndrome 1	Uncertain significance (Apr 14, 2020)	no assertion criteria provided
Select item 99049578.	NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala) GRCh37: Chr11:66298419 GRCh38: Chr11:66530948	BBS1, ZDHHC24	T510A	Bardet-Biedl syndrome 1	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 99049479.	NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr) GRCh37: Chr11:66298380 GRCh38: Chr11:66530909	BBS1, ZDHHC24	P497T	Bardet-Biedl syndrome 1	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 99049380.	NM_024649.5(BBS1):c.1320A>G (p.Arg440=) GRCh37: Chr11:66294259 GRCh38: Chr11:66526788	BBS1, ZDHHC24		Bardet-Biedl syndrome	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 99006781.	NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg) GRCh37: Chr11:66294252 GRCh38: Chr11:66526781	BBS1, ZDHHC24	T438R	not provided, Bardet-Biedl syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99006682.	NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly) GRCh37: Chr11:66293660 GRCh38: Chr11:66526189	BBS1, ZDHHC24	R393G	Bardet-Biedl syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 99006583.	NM_024649.5(BBS1):c.742C>A (p.Pro248Thr) GRCh37: Chr11:66288759 GRCh38: Chr11:66521288	BBS1, ZDHHC24	P248T	Bardet-Biedl syndrome 1	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 99006484.	NM_024649.5(BBS1):c.708C>G (p.Phe236Leu) GRCh37: Chr11:66287204 GRCh38: Chr11:66519733	BBS1	F236L	Bardet-Biedl syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 99006385.	NM_024649.5(BBS1):c.357A>T (p.Arg119Ser) GRCh37: Chr11:66282074 GRCh38: Chr11:66514603	BBS1	R119S	Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99006286.	NM_024649.5(BBS1):c.198C>T (p.Pro66=) GRCh37: Chr11:66281915 GRCh38: Chr11:66514444	BBS1		Bardet-Biedl syndrome 1	Uncertain significance (Apr 14, 2020)	no assertion criteria provided
Select item 99006187.	NM_024649.5(BBS1):c.163G>A (p.Val55Met) GRCh37: Chr11:66281880 GRCh38: Chr11:66514409	BBS1	V55M	Bardet-Biedl syndrome	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 99006088.	NM_024649.5(BBS1):c.-3A>G GRCh37: Chr11:66278128 GRCh38: Chr11:66510657	BBS1		not provided, Bardet-Biedl syndrome 1, not specified	Uncertain significance (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98400089.	NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter) GRCh37: Chr11:66294137 GRCh38: Chr11:66526666	BBS1, ZDHHC24	K400*	Bardet-Biedl syndrome 1	Likely pathogenic (Dec 5, 2019)	criteria provided, single submitter
Select item 98399990.	NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter) GRCh37: Chr11:66293626 GRCh38: Chr11:66526155	ZDHHC24, BBS1	Y381*	Bardet-Biedl syndrome 1	Likely pathogenic (Feb 15, 2020)	criteria provided, single submitter
Select item 98399891.	NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter) GRCh37: Chr11:66291252 GRCh38: Chr11:66523781	BBS1, ZDHHC24	E337*	Bardet-Biedl syndrome 1	Likely pathogenic (Aug 9, 2019)	criteria provided, single submitter
Select item 98399792.	NM_024649.5(BBS1):c.965G>A (p.Trp322Ter) GRCh37: Chr11:66291208 GRCh38: Chr11:66523737	BBS1, ZDHHC24	W322*	Bardet-Biedl syndrome 1	Likely pathogenic (Dec 22, 2019)	criteria provided, single submitter
Select item 98383393.	NM_024649.5(BBS1):c.700G>T (p.Glu234Ter) GRCh37: Chr11:66287196 GRCh38: Chr11:66519725	BBS1	E234*	Bardet-Biedl syndrome 1	Likely pathogenic (Oct 23, 2019)	criteria provided, single submitter
Select item 98383294.	NM_024649.5(BBS1):c.406C>T (p.Gln136Ter) GRCh37: Chr11:66282123 GRCh38: Chr11:66514652	BBS1	Q136*	Bardet-Biedl syndrome 1	Likely pathogenic (Sep 15, 2019)	criteria provided, single submitter
Select item 98383195.	NM_024649.5(BBS1):c.214A>T (p.Lys72Ter) GRCh37: Chr11:66281931 GRCh38: Chr11:66514460	BBS1	K72*	Bardet-Biedl syndrome 1	Likely pathogenic (Jul 23, 2019)	criteria provided, single submitter
Select item 98383096.	NM_024649.5(BBS1):c.71T>A (p.Leu24Ter) GRCh37: Chr11:66278507 GRCh38: Chr11:66511036	BBS1	L24*	Bardet-Biedl syndrome 1	Likely pathogenic (Jan 25, 2020)	criteria provided, single submitter
Select item 98251797.	NM_024649.5(BBS1):c.[1285C>T];[908del]			Leber congenital amaurosis	Pathogenic (Jul 6, 2020)	criteria provided, single submitter
Select item 98124198.	NM_024649.5(BBS1):c.1214_1215insSVA GRCh37: Chr11:66294153-66294154 GRCh38: Chr11:66526682-66526683	BBS1, ZDHHC24		Bardet-Biedl syndrome 1	Pathogenic (Nov 28, 2018)	criteria provided, single submitter
Select item 97268399.	NM_024649.5(BBS1):c.1473G>A (p.Val491=) GRCh37: Chr11:66297423 GRCh38: Chr11:66529952	BBS1, ZDHHC24		Bardet-Biedl syndrome 1	Uncertain significance (Feb 4, 2020)	criteria provided, single submitter
Select item 972671100.	NM_024649.5(BBS1):c.77C>T (p.Ala26Val) GRCh37: Chr11:66278513 GRCh38: Chr11:66511042	BBS1	A26V	Bardet-Biedl syndrome 1, Bardet-Biedl syndrome	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts

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