ClinVar for MedGen (Select 422453) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25022681.	NM_018233.4(OGFOD1):c.1467+11_1467+13del GRCh37: Chr16:56509484-56509486 GRCh38: Chr16:56475572-56475574	BBS2, OGFOD1		Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 25007542.	NM_031885.5(BBS2):c.1690G>T (p.Ala564Ser) GRCh37: Chr16:56531762 GRCh38: Chr16:56497850	BBS2	A564S	Bardet-Biedl syndrome 2	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 17268523.	NM_031885.5(BBS2):c.1273_1274insAACTGGAGAGGTT (p.Gly425fs) GRCh37: Chr16:56534889-56534890 GRCh38: Chr16:56500977-56500978	BBS2	G425fs	Bardet-Biedl syndrome 2	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17267574.	NM_031885.5(BBS2):c.802A>T (p.Lys268Ter) GRCh37: Chr16:56539864 GRCh38: Chr16:56505952	BBS2	K268*	Bardet-Biedl syndrome 2	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17266685.	NM_031885.5(BBS2):c.1353_1354insTCAGTTTTGTCATCTTT (p.Pro452fs) GRCh37: Chr16:56534809-56534810 GRCh38: Chr16:56500897-56500898	BBS2	P452fs	Bardet-Biedl syndrome 2	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 17265036.	NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter) GRCh37: Chr16:56531705 GRCh38: Chr16:56497793	BBS2	E583*	Bardet-Biedl syndrome 2	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 17264607.	NM_031885.5(BBS2):c.784dup (p.Thr262fs) GRCh37: Chr16:56539881-56539882 GRCh38: Chr16:56505969-56505970	BBS2	T262fs	Bardet-Biedl syndrome 2	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 17263738.	NM_031885.5(BBS2):c.766G>T (p.Gly256Ter) GRCh37: Chr16:56539900 GRCh38: Chr16:56505988	BBS2	G256*	Bardet-Biedl syndrome 2	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 17262999.	NM_031885.5(BBS2):c.1654_1655insCT (p.Gly552fs) GRCh37: Chr16:56532353-56532354 GRCh38: Chr16:56498441-56498442	BBS2	G552fs	Bardet-Biedl syndrome 2	Likely pathogenic (Dec 14, 2021)	criteria provided, single submitter
Select item 172604010.	NM_031885.5(BBS2):c.309_310insCACA (p.Asp104fs) GRCh37: Chr16:56548400-56548401 GRCh38: Chr16:56514488-56514489	BBS2	D104fs	Bardet-Biedl syndrome 2	Likely pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 172596611.	NM_031885.5(BBS2):c.1700del (p.Ile567fs) GRCh37: Chr16:56531752 GRCh38: Chr16:56497840	BBS2	I567fs	Bardet-Biedl syndrome 2	Likely pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 172586512.	NM_031885.5(BBS2):c.691A>T (p.Lys231Ter) GRCh37: Chr16:56540058 GRCh38: Chr16:56506146	BBS2	K231*	Bardet-Biedl syndrome 2	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 172585613.	NM_031885.5(BBS2):c.619_620del (p.Thr207fs) GRCh37: Chr16:56540129-56540130 GRCh38: Chr16:56506217-56506218	BBS2	T207fs	Bardet-Biedl syndrome 2	Likely pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 172570714.	NM_031885.5(BBS2):c.1461del (p.Ser488fs) GRCh37: Chr16:56533756 GRCh38: Chr16:56499844	BBS2	S488fs	Bardet-Biedl syndrome 2	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 172566915.	NM_031885.5(BBS2):c.491_501del (p.Asn164fs) GRCh37: Chr16:56544804-56544814 GRCh38: Chr16:56510892-56510902	BBS2	N164fs	Bardet-Biedl syndrome 2	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172551016.	NM_031885.5(BBS2):c.1245_1261del (p.Leu416fs) GRCh37: Chr16:56534902-56534918 GRCh38: Chr16:56500990-56501006	BBS2	L416fs	Bardet-Biedl syndrome 2	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 172539217.	NM_031885.5(BBS2):c.1260_1262delinsTGTGTAT (p.Glu420fs) GRCh37: Chr16:56534901-56534903 GRCh38: Chr16:56500989-56500991	BBS2	E420fs	Bardet-Biedl syndrome 2	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172525818.	NM_031885.5(BBS2):c.1795_1796del (p.Lys599fs) GRCh37: Chr16:56531656-56531657 GRCh38: Chr16:56497744-56497745	BBS2	K599fs	Bardet-Biedl syndrome 2	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172476119.	NM_031885.5(BBS2):c.1088T>A (p.Leu363Ter) GRCh37: Chr16:56535402 GRCh38: Chr16:56501490	BBS2	L363*	Bardet-Biedl syndrome 2	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172474820.	NM_031885.5(BBS2):c.1502_1503del (p.Phe501fs) GRCh37: Chr16:56533714-56533715 GRCh38: Chr16:56499802-56499803	BBS2	F501fs	Bardet-Biedl syndrome 2	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172390821.	NM_031885.5(BBS2):c.1313_1314insT (p.Ser439fs) GRCh37: Chr16:56534849-56534850 GRCh38: Chr16:56500937-56500938	BBS2	S439fs	Bardet-Biedl syndrome 2	Likely pathogenic (Jan 8, 2022)	criteria provided, single submitter
Select item 168717022.	NM_031885.5(BBS2):c.404T>A (p.Leu135His) GRCh37: Chr16:56545138 GRCh38: Chr16:56511226	BBS2	L135H	Bardet-Biedl syndrome 2	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168372523.	NM_031885.5(BBS2):c.1544del (p.Gly515fs) GRCh37: Chr16:56532464 GRCh38: Chr16:56498552	BBS2	G515fs	Bardet-Biedl syndrome 2	Likely pathogenic (Jun 21, 2021)	criteria provided, single submitter
Select item 165195224.	NM_031885.5(BBS2):c.216C>T (p.Asn72=) GRCh37: Chr16:56548494 GRCh38: Chr16:56514582	BBS2		Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Likely benign (Oct 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 161730325.	NM_031885.5(BBS2):c.612+17C>T GRCh37: Chr16:56543852 GRCh38: Chr16:56509940	BBS2		Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159855726.	NM_031885.5(BBS2):c.1080+14C>T GRCh37: Chr16:56536215 GRCh38: Chr16:56502303	BBS2		Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Benign/Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158196327.	NM_031885.5(BBS2):c.612+18G>A GRCh37: Chr16:56543851 GRCh38: Chr16:56509939	BBS2		Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157419428.	NM_031885.5(BBS2):c.1845T>C (p.Ala615=) GRCh37: Chr16:56530944 GRCh38: Chr16:56497032	BBS2		Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157039429.	NM_031885.5(BBS2):c.810T>C (p.Asp270=) GRCh37: Chr16:56536715 GRCh38: Chr16:56502803	BBS2		Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156836630.	NM_031885.5(BBS2):c.1528-15G>T GRCh37: Chr16:56532495 GRCh38: Chr16:56498583	BBS2		Bardet-Biedl syndrome, Retinitis pigmentosa 74, Bardet-Biedl syndrome 2	Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156586531.	NM_031885.5(BBS2):c.941-11C>T GRCh37: Chr16:56536379 GRCh38: Chr16:56502467	BBS2		Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156508832.	NM_031885.5(BBS2):c.117+17G>T GRCh37: Chr16:56553641 GRCh38: Chr16:56519729	BBS2		Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Likely benign (Dec 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 156038633.	NM_031885.5(BBS2):c.1797+13G>A GRCh37: Chr16:56531642 GRCh38: Chr16:56497730	BBS2		Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154360534.	NM_031885.5(BBS2):c.534+20T>C GRCh37: Chr16:56544751 GRCh38: Chr16:56510839	BBS2		Retinitis pigmentosa 74, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153769135.	NM_031885.5(BBS2):c.342A>G (p.Arg114=) GRCh37: Chr16:56548368 GRCh38: Chr16:56514456	BBS2		Bardet-Biedl syndrome, Retinitis pigmentosa 74, Bardet-Biedl syndrome 2	Likely benign (Apr 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151902436.	NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys) GRCh37: Chr16:56532465 GRCh38: Chr16:56498553	BBS2	G515C	Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, not provided, Bardet-Biedl syndrome	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151397337.	NM_031885.5(BBS2):c.61A>G (p.Ile21Val) GRCh37: Chr16:56553714 GRCh38: Chr16:56519802	BBS2	I21V	Bardet-Biedl syndrome, Retinitis pigmentosa 74, Bardet-Biedl syndrome 2	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151213538.	NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln) GRCh37: Chr16:56533778 GRCh38: Chr16:56499866	BBS2	R480Q	Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149711439.	NM_031885.5(BBS2):c.1713G>A (p.Met571Ile) GRCh37: Chr16:56531739 GRCh38: Chr16:56497827	BBS2	M571I	Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Inborn genetic diseases, Bardet-Biedl syndrome	Uncertain significance (Apr 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148715140.	NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp) GRCh37: Chr16:56518744 GRCh38: Chr16:56484832	BBS2	R699W	Retinitis pigmentosa 74, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145246441.	NM_031885.5(BBS2):c.612+14C>G GRCh37: Chr16:56543855 GRCh38: Chr16:56509943	BBS2		Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142385742.	NM_031885.5(BBS2):c.722A>C (p.Lys241Thr) GRCh37: Chr16:56539944 GRCh38: Chr16:56506032	BBS2	K241T	Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140616043.	NM_031885.5(BBS2):c.320A>G (p.Asn107Ser) GRCh37: Chr16:56548390 GRCh38: Chr16:56514478	BBS2	N107S	Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139187444.	NM_031885.5(BBS2):c.941-20G>A GRCh37: Chr16:56536388 GRCh38: Chr16:56502476	BBS2		Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138472445.	NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu) GRCh37: Chr16:56535282 GRCh38: Chr16:56501370	BBS2	R403L	Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138436946.	NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile) GRCh37: Chr16:56535300 GRCh38: Chr16:56501388	BBS2	T397I	Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138319047.	NM_031885.5(BBS2):c.974G>A (p.Arg325Lys) GRCh37: Chr16:56536335 GRCh38: Chr16:56502423	BBS2	R325K	Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Uncertain significance (Sep 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 136725148.	NM_031885.5(BBS2):c.256_278dup (p.Val94fs) GRCh37: Chr16:56548431-56548432 GRCh38: Chr16:56514519-56514520	BBS2	V94fs	Bardet-Biedl syndrome 2, Bardet-Biedl syndrome	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133933549.	NM_031885.5(BBS2):c.1762_1765del (p.Val588fs) GRCh37: Chr16:56531687-56531690 GRCh38: Chr16:56497775-56497778	BBS2	V588fs	Bardet-Biedl syndrome 2, Bardet-Biedl syndrome	Pathogenic/Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133908250.	NM_031885.5(BBS2):c.1527+1G>A GRCh37: Chr16:56533689 GRCh38: Chr16:56499777	BBS2		Bardet-Biedl syndrome 2	Likely pathogenic	criteria provided, single submitter
Select item 133798651.	NM_031885.5(BBS2):c.-2T>G GRCh37: Chr16:56553776 GRCh38: Chr16:56519864	BBS2		not specified, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, not provided	Uncertain significance (Aug 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 131207052.	NM_031885.5(BBS2):c.380C>G (p.Thr127Arg) GRCh37: Chr16:56545162 GRCh38: Chr16:56511250	BBS2	T127R	Inborn genetic diseases, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome, not provided	Uncertain significance (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121036453.	NM_031885.5(BBS2):c.1725del (p.Phe575fs) GRCh37: Chr16:56531727 GRCh38: Chr16:56497815	BBS2	F575fs	Bardet-Biedl syndrome 2	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 119590354.	NM_031885.5(BBS2):c.1169G>T (p.Ser390Ile) GRCh37: Chr16:56535321 GRCh38: Chr16:56501409	BBS2	S390I	Retinitis pigmentosa 74, Bardet-Biedl syndrome 2	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119590255.	NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys) GRCh37: Chr16:56519588 GRCh38: Chr16:56485676	BBS2	Y658C	Retinitis pigmentosa 74, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome 2	Uncertain significance (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119590156.	NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln) GRCh37: Chr16:56518695 GRCh38: Chr16:56484783	BBS2	R715Q	Retinitis pigmentosa 74, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117273757.	NM_031885.5(BBS2):c.613-54C>G GRCh37: Chr16:56540190 GRCh38: Chr16:56506278	BBS2		not provided, Retinitis pigmentosa 74, Bardet-Biedl syndrome 2	Benign (Jun 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 115834358.	NM_031885.5(BBS2):c.1623C>T (p.Gly541=) GRCh37: Chr16:56532385 GRCh38: Chr16:56498473	BBS2		Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115389259.	NM_031885.5(BBS2):c.941-8C>G GRCh37: Chr16:56536376 GRCh38: Chr16:56502464	BBS2		Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114154760.	NM_031885.5(BBS2):c.117+7G>A GRCh37: Chr16:56553651 GRCh38: Chr16:56519739	BBS2		Retinitis pigmentosa 74, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome	Likely benign (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113930061.	NM_031885.5(BBS2):c.941-6G>A GRCh37: Chr16:56536374 GRCh38: Chr16:56502462	BBS2		Retinitis pigmentosa 74, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113271762.	NM_031885.5(BBS2):c.471+17A>G GRCh37: Chr16:56545054 GRCh38: Chr16:56511142	BBS2		Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Likely benign (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113226563.	NM_031885.5(BBS2):c.1413A>G (p.Val471=) GRCh37: Chr16:56533804 GRCh38: Chr16:56499892	BBS2		Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112811964.	NM_031885.5(BBS2):c.2059+12_2059+13del GRCh37: Chr16:56519489-56519490 GRCh38: Chr16:56485577-56485578	BBS2		Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111641865.	NM_031885.5(BBS2):c.1530T>G (p.Val510=) GRCh37: Chr16:56532478 GRCh38: Chr16:56498566	BBS2		Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107659566.	NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs) GRCh37: Chr16:56532358-56532359 GRCh38: Chr16:56498446-56498447	BBS2	L550fs	Bardet-Biedl syndrome, Retinitis pigmentosa 74, Bardet-Biedl syndrome 2	Pathogenic/Likely pathogenic (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107124267.	NM_031885.5(BBS2):c.437del (p.Gly146fs) GRCh37: Chr16:56545105 GRCh38: Chr16:56511193	BBS2	G146fs	Bardet-Biedl syndrome, Bardet-Biedl syndrome 2	Pathogenic/Likely pathogenic (Apr 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107002768.	NM_031885.5(BBS2):c.613-1G>C GRCh37: Chr16:56540137 GRCh38: Chr16:56506225	BBS2		Bardet-Biedl syndrome	Pathogenic (Jun 7, 2020)	criteria provided, single submitter
Select item 106433269.	NM_031885.5(BBS2):c.116A>G (p.Lys39Arg) GRCh37: Chr16:56553659 GRCh38: Chr16:56519747	BBS2	K39R	Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106339870.	NM_031885.5(BBS2):c.68G>T (p.Arg23Leu) GRCh37: Chr16:56553707 GRCh38: Chr16:56519795	BBS2	R23L	Bardet-Biedl syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 105842071.	NM_031885.5(BBS2):c.1816G>T (p.Val606Leu) GRCh37: Chr16:56530973 GRCh38: Chr16:56497061	BBS2	V606L	Bardet-Biedl syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 105440772.	NM_031885.5(BBS2):c.851A>G (p.Asn284Ser) GRCh37: Chr16:56536674 GRCh38: Chr16:56502762	BBS2	N284S	Bardet-Biedl syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 105387373.	NM_031885.5(BBS2):c.1333A>G (p.Ile445Val) GRCh37: Chr16:56534830 GRCh38: Chr16:56500918	BBS2	I445V	Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Uncertain significance (May 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105346174.	NM_031885.5(BBS2):c.1381G>A (p.Val461Met) GRCh37: Chr16:56534782 GRCh38: Chr16:56500870	BBS2	V461M	Retinitis pigmentosa 74, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104452175.	NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile) GRCh37: Chr16:56531779 GRCh38: Chr16:56497867	BBS2	T558I	Bardet-Biedl syndrome	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 104293976.	NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser) GRCh37: Chr16:56535351 GRCh38: Chr16:56501439	BBS2	N380S	Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Uncertain significance (Feb 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103716377.	NM_031885.5(BBS2):c.962C>A (p.Thr321Lys) GRCh37: Chr16:56536347 GRCh38: Chr16:56502435	BBS2	T321K	Bardet-Biedl syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 102425578.	NM_031885.5(BBS2):c.8T>C (p.Leu3Pro) GRCh37: Chr16:56553767 GRCh38: Chr16:56519855	BBS2	L3P	Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Uncertain significance (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102193979.	NM_031885.5(BBS2):c.718-3C>T GRCh37: Chr16:56539951 GRCh38: Chr16:56506039	BBS2		Bardet-Biedl syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 102140480.	NM_031885.5(BBS2):c.482A>G (p.Asp161Gly) GRCh37: Chr16:56544823 GRCh38: Chr16:56510911	BBS2	D161G	Bardet-Biedl syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 102080481.	NM_031885.5(BBS2):c.485A>G (p.Asn162Ser) GRCh37: Chr16:56544820 GRCh38: Chr16:56510908	BBS2	N162S	Bardet-Biedl syndrome, Retinitis pigmentosa 74, Bardet-Biedl syndrome 2	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101935782.	NM_031885.5(BBS2):c.1909A>T (p.Met637Leu) GRCh37: Chr16:56530880 GRCh38: Chr16:56496968	BBS2	M637L	Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, Bardet-Biedl syndrome	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101785483.	NM_031885.5(BBS2):c.470C>T (p.Thr157Met) GRCh37: Chr16:56545072 GRCh38: Chr16:56511160	BBS2	T157M	Bardet-Biedl syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 101529284.	NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg) GRCh37: Chr16:56530910 GRCh38: Chr16:56496998	BBS2	G627R	Bardet-Biedl syndrome, Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100776085.	NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp) GRCh37: Chr16:56532393 GRCh38: Chr16:56498481	BBS2	R539W	Bardet-Biedl syndrome 2, Retinitis pigmentosa 74, not provided, Bardet-Biedl syndrome	Uncertain significance (Mar 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 100665786.	NM_031885.5(BBS2):c.55G>A (p.Val19Met) GRCh37: Chr16:56553720 GRCh38: Chr16:56519808	BBS2	V19M	Bardet-Biedl syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 100550687.	NM_031885.5(BBS2):c.913T>G (p.Leu305Val) GRCh37: Chr16:56536612 GRCh38: Chr16:56502700	BBS2	L305V	Bardet-Biedl syndrome	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 100252488.	NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr) GRCh37: Chr16:56534923 GRCh38: Chr16:56501011	BBS2	A414T	Bardet-Biedl syndrome	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 99950389.	NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln) GRCh37: Chr16:56533700 GRCh38: Chr16:56499788	BBS2	R506Q	Bardet-Biedl syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 98996690.	NM_031885.5(BBS2):c.142C>T (p.Arg48Trp) GRCh37: Chr16:56548568 GRCh38: Chr16:56514656	BBS2	R48W	Bardet-Biedl syndrome 2, Retinitis pigmentosa 74	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter
Select item 98432991.	NM_031885.5(BBS2):c.217C>T (p.Gln73Ter) GRCh37: Chr16:56548493 GRCh38: Chr16:56514581	BBS2	Q73*	Bardet-Biedl syndrome 2	Likely pathogenic (Apr 1, 2019)	criteria provided, single submitter
Select item 98432892.	NM_031885.5(BBS2):c.289C>T (p.Gln97Ter) GRCh37: Chr16:56548421 GRCh38: Chr16:56514509	BBS2	Q97*	Bardet-Biedl syndrome 2	Likely pathogenic (Mar 5, 2020)	criteria provided, single submitter
Select item 98432793.	NM_031885.5(BBS2):c.302T>A (p.Leu101Ter) GRCh37: Chr16:56548408 GRCh38: Chr16:56514496	BBS2	L101*	Bardet-Biedl syndrome 2	Likely pathogenic (Jan 4, 2020)	criteria provided, single submitter
Select item 98432694.	NM_031885.5(BBS2):c.343G>T (p.Glu115Ter) GRCh37: Chr16:56548367 GRCh38: Chr16:56514455	BBS2	E115*	Bardet-Biedl syndrome 2	Likely pathogenic (Mar 30, 2019)	criteria provided, single submitter
Select item 98432595.	NM_031885.5(BBS2):c.497T>A (p.Leu166Ter) GRCh37: Chr16:56544808 GRCh38: Chr16:56510896	BBS2	L166*	Bardet-Biedl syndrome, Bardet-Biedl syndrome 2	Pathogenic/Likely pathogenic (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98432496.	NM_031885.5(BBS2):c.583G>T (p.Glu195Ter) GRCh37: Chr16:56543898 GRCh38: Chr16:56509986	BBS2	E195*	Bardet-Biedl syndrome 2	Likely pathogenic (Feb 5, 2020)	criteria provided, single submitter
Select item 98400497.	NM_031885.5(BBS2):c.721A>T (p.Lys241Ter) GRCh37: Chr16:56539945 GRCh38: Chr16:56506033	BBS2	K241*	Bardet-Biedl syndrome 2	Likely pathogenic (Mar 31, 2019)	criteria provided, single submitter
Select item 98400398.	NM_031885.5(BBS2):c.1066G>T (p.Glu356Ter) GRCh37: Chr16:56536243 GRCh38: Chr16:56502331	BBS2	E356*	Bardet-Biedl syndrome 2	Likely pathogenic (Apr 6, 2019)	criteria provided, single submitter
Select item 98400299.	NM_031885.5(BBS2):c.1402C>T (p.Gln468Ter) GRCh37: Chr16:56533815 GRCh38: Chr16:56499903	BBS2	Q468*	Bardet-Biedl syndrome 2	Likely pathogenic (Dec 16, 2019)	criteria provided, single submitter
Select item 984001100.	NM_031885.5(BBS2):c.1778T>A (p.Leu593Ter) GRCh37: Chr16:56531674 GRCh38: Chr16:56497762	BBS2	L593*	Bardet-Biedl syndrome 2	Likely pathogenic (Mar 26, 2019)	criteria provided, single submitter

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