ClinVar for MedGen (Select 347909) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25774521.	NM_024685.4(BBS10):c.1330dup (p.Ser444fs) GRCh37: Chr12:76740434-76740435 GRCh38: Chr12:76346654-76346655	BBS10	S444fs	Bardet-Biedl syndrome 10	Pathogenic (Dec 16, 2021)	no assertion criteria provided
Select item 25774512.	NM_024685.4(BBS10):c.1555_1564del (p.Thr519fs) GRCh37: Chr12:76740201-76740210 GRCh38: Chr12:76346421-76346430	BBS10	T519fs	Bardet-Biedl syndrome 10	Pathogenic (Dec 16, 2021)	no assertion criteria provided
Select item 25034543.	NM_024685.4(BBS10):c.924G>T (p.Leu308Phe) GRCh37: Chr12:76740841 GRCh38: Chr12:76347061	BBS10	L308F	Bardet-Biedl syndrome 10	Likely pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 25022564.	NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr) GRCh37: Chr12:76740545 GRCh38: Chr12:76346765	BBS10	I407T	Bardet-Biedl syndrome 10	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 24394745.	NM_024685.4(BBS10):c.930A>G (p.Ile310Met) GRCh37: Chr12:76740835 GRCh38: Chr12:76347055	BBS10	I310M	Bardet-Biedl syndrome 10	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 24366216.	NM_024685.4(BBS10):c.157_170dup (p.Leu58fs) GRCh37: Chr12:76741968-76741969 GRCh38: Chr12:76348188-76348189	BBS10	L58fs	Bardet-Biedl syndrome 10	Likely pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 24314537.	NM_024685.4(BBS10):c.923T>C (p.Leu308Ser) GRCh37: Chr12:76740842 GRCh38: Chr12:76347062	BBS10	L308S	Bardet-Biedl syndrome 10	Likely pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 21363068.	NM_024685.4(BBS10):c.180dup (p.Glu61fs) GRCh37: Chr12:76741958-76741959 GRCh38: Chr12:76348178-76348179	BBS10	E61fs	Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18015209.	NM_024685.4(BBS10):c.805dup (p.Ser269fs) GRCh37: Chr12:76740959-76740960 GRCh38: Chr12:76347179-76347180	BBS10	S269fs	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Pathogenic (Dec 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171050010.	NM_024685.4(BBS10):c.569T>C (p.Ile190Thr) GRCh37: Chr12:76741196 GRCh38: Chr12:76347416	BBS10	I190T	Bardet-Biedl syndrome 10	Likely pathogenic (Mar 30, 2021)	criteria provided, single submitter
Select item 159573611.	NM_024685.4(BBS10):c.197+13C>G GRCh37: Chr12:76741929 GRCh38: Chr12:76348149	BBS10		Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Likely benign (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152872612.	NM_024685.4(BBS10):c.648C>T (p.Asp216=) GRCh37: Chr12:76741117 GRCh38: Chr12:76347337	BBS10		Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Likely benign (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152049913.	NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp) GRCh37: Chr12:76740069 GRCh38: Chr12:76346289	BBS10	N566D	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151543714.	NM_024685.4(BBS10):c.1A>G (p.Met1Val) GRCh37: Chr12:76742138 GRCh38: Chr12:76348358	BBS10	M1V	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151533715.	NM_024685.4(BBS10):c.1696A>C (p.Asn566His) GRCh37: Chr12:76740069 GRCh38: Chr12:76346289	BBS10	N566H	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149494816.	NM_024685.4(BBS10):c.1882A>G (p.Met628Val) GRCh37: Chr12:76739883 GRCh38: Chr12:76346103	BBS10	M628V	Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome 10	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145705517.	NM_024685.4(BBS10):c.84C>A (p.Cys28Ter) GRCh37: Chr12:76742055 GRCh38: Chr12:76348275	BBS10	C28*	Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Pathogenic/Likely pathogenic (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145103418.	NM_024685.4(BBS10):c.1741C>T (p.Pro581Ser) GRCh37: Chr12:76740024 GRCh38: Chr12:76346244	BBS10	P581S	Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Uncertain significance (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142375819.	NM_024685.4(BBS10):c.1075C>G (p.Gln359Glu) GRCh37: Chr12:76740690 GRCh38: Chr12:76346910	BBS10	Q359E	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138346920.	NM_024685.4(BBS10):c.1514C>T (p.Pro505Leu) GRCh37: Chr12:76740251 GRCh38: Chr12:76346471	BBS10	P505L	Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138165321.	NM_024685.4(BBS10):c.1427A>G (p.Asn476Ser) GRCh37: Chr12:76740338 GRCh38: Chr12:76346558	BBS10	N476S	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133932622.	NM_024685.4(BBS10):c.788C>T (p.Thr263Ile) GRCh37: Chr12:76740977 GRCh38: Chr12:76347197	BBS10	T263I	Bardet-Biedl syndrome 10	Uncertain significance	criteria provided, single submitter
Select item 133640623.	NM_024685.4(BBS10):c.85G>T (p.Val29Leu) GRCh37: Chr12:76742054 GRCh38: Chr12:76348274	BBS10	V29L	not specified, Bardet-Biedl syndrome 10	Uncertain significance (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133415524.	NM_024685.4(BBS10):c.1230T>G (p.His410Gln) GRCh37: Chr12:76740535 GRCh38: Chr12:76346755	BBS10	H410Q	Bardet-Biedl syndrome 10	Uncertain significance (Nov 8, 2021)	criteria provided, single submitter
Select item 133350325.	NM_024685.4(BBS10):c.804_805del (p.Ser269fs) GRCh37: Chr12:76740960-76740961 GRCh38: Chr12:76347180-76347181	BBS10	S269fs	Bardet-Biedl syndrome 10, not provided, Bardet-Biedl syndrome	Pathogenic/Likely pathogenic (Dec 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121036326.	NM_024685.4(BBS10):c.235del (p.Thr79fs) GRCh37: Chr12:76741530 GRCh38: Chr12:76347750	BBS10	T79fs	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Pathogenic/Likely pathogenic (Sep 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119589927.	NM_024685.4(BBS10):c.955G>C (p.Val319Leu) GRCh37: Chr12:76740810 GRCh38: Chr12:76347030	BBS10	V319L	Bardet-Biedl syndrome 10	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 117912228.	NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) GRCh37: Chr12:76742124-76742130 GRCh38: Chr12:76348344-76348350	BBS10	S3fs	Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Pathogenic (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 116049629.	NM_024685.4(BBS10):c.2167C>T (p.Leu723=) GRCh37: Chr12:76739598 GRCh38: Chr12:76345818	BBS10		Bardet-Biedl syndrome	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 115641630.	NM_024685.4(BBS10):c.6A>G (p.Leu2=) GRCh37: Chr12:76742133 GRCh38: Chr12:76348353	BBS10		Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Likely benign (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113695631.	NM_024685.4(BBS10):c.1923C>T (p.Pro641=) GRCh37: Chr12:76739842 GRCh38: Chr12:76346062	BBS10		Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Likely benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112911332.	NM_024685.4(BBS10):c.402A>G (p.Leu134=) GRCh37: Chr12:76741363 GRCh38: Chr12:76347583	BBS10		Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111027533.	NM_024685.4(BBS10):c.1602T>G (p.Thr534=) GRCh37: Chr12:76740163 GRCh38: Chr12:76346383	BBS10		Bardet-Biedl syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 109960434.	NM_024685.4(BBS10):c.27G>T (p.Gly9=) GRCh37: Chr12:76742112 GRCh38: Chr12:76348332	BBS10		Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107934835.	NM_024685.4(BBS10):c.1092C>T (p.Asn364=) GRCh37: Chr12:76740673 GRCh38: Chr12:76346893	BBS10		Bardet-Biedl syndrome	Likely benign (Aug 23, 2021)	criteria provided, single submitter
Select item 105863236.	NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg) GRCh37: Chr12:76740302 GRCh38: Chr12:76346522	BBS10	K488R	Bardet-Biedl syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 105391737.	NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser) GRCh37: Chr12:76739762 GRCh38: Chr12:76345982	BBS10	N668S	Inborn genetic diseases, Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105359038.	NM_024685.4(BBS10):c.337A>G (p.Ile113Val) GRCh37: Chr12:76741428 GRCh38: Chr12:76347648	BBS10	I113V	Bardet-Biedl syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 104457039.	NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly) GRCh37: Chr12:76740405 GRCh38: Chr12:76346625	BBS10	S454G	Bardet-Biedl syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 103885340.	NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys) GRCh37: Chr12:76739761 GRCh38: Chr12:76345981	BBS10	N668K	Bardet-Biedl syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 103547641.	NM_024685.4(BBS10):c.2169A>G (p.Leu723=) GRCh37: Chr12:76739596 GRCh38: Chr12:76345816	BBS10		Bardet-Biedl syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 103448642.	NM_024685.4(BBS10):c.209A>G (p.Asp70Gly) GRCh37: Chr12:76741556 GRCh38: Chr12:76347776	BBS10	D70G	Bardet-Biedl syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 102991843.	NM_024685.4(BBS10):c.1365T>G (p.Tyr455Ter) GRCh37: Chr12:76740400 GRCh38: Chr12:76346620	BBS10	Y455*	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102506744.	NM_024685.4(BBS10):c.106G>T (p.Val36Phe) GRCh37: Chr12:76742033 GRCh38: Chr12:76348253	BBS10	V36F	Bardet-Biedl syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 102141545.	NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp) GRCh37: Chr12:76739717 GRCh38: Chr12:76345937	BBS10	G683D	Bardet-Biedl syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 102011746.	NM_024685.4(BBS10):c.1234G>C (p.Asp412His) GRCh37: Chr12:76740531 GRCh38: Chr12:76346751	BBS10	D412H	Bardet-Biedl syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 101552147.	NM_024685.4(BBS10):c.1780A>G (p.Met594Val) GRCh37: Chr12:76739985 GRCh38: Chr12:76346205	BBS10	M594V	Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99067948.	NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln) GRCh37: Chr12:76740584 GRCh38: Chr12:76346804	BBS10	P394Q	Bardet-Biedl syndrome 10	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99067849.	NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile) GRCh37: Chr12:76740440 GRCh38: Chr12:76346660	BBS10	T442I	Inborn genetic diseases	Uncertain significance (Dec 13, 2022)	criteria provided, single submitter
Select item 99067750.	NM_024685.4(BBS10):c.1418T>A (p.Val473Asp) GRCh37: Chr12:76740347 GRCh38: Chr12:76346567	BBS10	V473D	Bardet-Biedl syndrome 10	Uncertain significance (Aug 15, 2020)	no assertion criteria provided
Select item 99067651.	NM_024685.4(BBS10):c.1530A>G (p.Thr510=) GRCh37: Chr12:76740235 GRCh38: Chr12:76346455	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99067552.	NM_024685.4(BBS10):c.1684T>C (p.Leu562=) GRCh37: Chr12:76740081 GRCh38: Chr12:76346301	BBS10		Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99067453.	NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg) GRCh37: Chr12:76739909 GRCh38: Chr12:76346129	BBS10	K619R	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99067354.	NM_024685.4(BBS10):c.1865A>G (p.His622Arg) GRCh37: Chr12:76739900 GRCh38: Chr12:76346120	BBS10	H622R	Bardet-Biedl syndrome 10	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99067255.	NM_024685.4(BBS10):c.2157A>G (p.Ser719=) GRCh37: Chr12:76739608 GRCh38: Chr12:76345828	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 98634156.	NM_024685.4(BBS10):c.9_14del (p.Ser3_Met5delinsArg) GRCh37: Chr12:76742125-76742130 GRCh38: Chr12:76348345-76348350	BBS10		Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 97507757.	NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs) GRCh37: Chr12:76740427-76740428 GRCh38: Chr12:76346647-76346648	BBS10	F446fs	Bardet-Biedl syndrome 10	Pathogenic/Likely pathogenic (Aug 6, 2018)	criteria provided, multiple submitters, no conflicts
Select item 97153958.	NM_024685.4(BBS10):c.198-3C>T GRCh37: Chr12:76741570 GRCh38: Chr12:76347790	BBS10		Inborn genetic diseases, Bardet-Biedl syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97105759.	NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr) GRCh37: Chr12:76740065 GRCh38: Chr12:76346285	BBS10	I567T	Bardet-Biedl syndrome	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 97075360.	NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) GRCh37: Chr12:76741182 GRCh38: Chr12:76347402	BBS10	C195G	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96861461.	NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala) GRCh37: Chr12:76739796 GRCh38: Chr12:76346016	BBS10	T657A	Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96646362.	NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp) GRCh37: Chr12:76740611 GRCh38: Chr12:76346831	BBS10	G385D	Bardet-Biedl syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 96532963.	NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) GRCh37: Chr12:76739928 GRCh38: Chr12:76346148	BBS10	Y613H	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96127464.	NM_024685.4(BBS10):c.1228C>T (p.His410Tyr) GRCh37: Chr12:76740537 GRCh38: Chr12:76346757	BBS10	H410Y	Bardet-Biedl syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 96119665.	NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys) GRCh37: Chr12:76740365 GRCh38: Chr12:76346585	BBS10	R467K	Bardet-Biedl syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 95678366.	NM_024685.4(BBS10):c.587ACT[1] (p.Tyr197del) GRCh37: Chr12:76741173-76741175 GRCh38: Chr12:76347393-76347395	BBS10	Y197del	Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95673867.	NM_024685.4(BBS10):c.226C>T (p.Leu76Phe) GRCh37: Chr12:76741539 GRCh38: Chr12:76347759	BBS10	L76F	Bardet-Biedl syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95345468.	NM_024685.4(BBS10):c.934A>G (p.Ser312Gly) GRCh37: Chr12:76740831 GRCh38: Chr12:76347051	BBS10	S312G	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94785569.	NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys) GRCh37: Chr12:76740170 GRCh38: Chr12:76346390	BBS10	R532K	Inborn genetic diseases, Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93986270.	NM_024685.4(BBS10):c.434T>C (p.Met145Thr) GRCh37: Chr12:76741331 GRCh38: Chr12:76347551	BBS10	M145T	Bardet-Biedl syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 88418671.	NM_024685.4(BBS10):c.1164C>T (p.Ser388=) GRCh37: Chr12:76740601 GRCh38: Chr12:76346821	BBS10		Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Conflicting interpretations of pathogenicity (Sep 15, 2022)	criteria provided, conflicting interpretations
Select item 88418572.	NM_024685.4(BBS10):c.1203A>T (p.Gly401=) GRCh37: Chr12:76740562 GRCh38: Chr12:76346782	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 88418473.	NM_024685.4(BBS10):c.1339A>G (p.Ile447Val) GRCh37: Chr12:76740426 GRCh38: Chr12:76346646	BBS10	I447V	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88418374.	NM_024685.4(BBS10):c.1465G>C (p.Val489Leu) GRCh37: Chr12:76740300 GRCh38: Chr12:76346520	BBS10	V489L	Bardet-Biedl syndrome 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88413175.	NM_024685.4(BBS10):c.*947G>T GRCh37: Chr12:76738646 GRCh38: Chr12:76344866	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88413076.	NM_024685.4(BBS10):c.*1041G>T GRCh37: Chr12:76738552 GRCh38: Chr12:76344772	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88247177.	NM_024685.4(BBS10):c.1516T>A (p.Tyr506Asn) GRCh37: Chr12:76740249 GRCh38: Chr12:76346469	BBS10	Y506N	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88247078.	NM_024685.4(BBS10):c.1566G>T (p.Thr522=) GRCh37: Chr12:76740199 GRCh38: Chr12:76346419	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88242479.	NM_024685.4(BBS10):c.*1113G>C GRCh37: Chr12:76738480 GRCh38: Chr12:76344700	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88242280.	NM_024685.4(BBS10):c.*1197A>G GRCh37: Chr12:76738396 GRCh38: Chr12:76344616	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88226881.	NM_024685.4(BBS10):c.270T>G (p.Leu90=) GRCh37: Chr12:76741495 GRCh38: Chr12:76347715	BBS10		Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 88222882.	NM_024685.4(BBS10):c.1893G>C (p.Met631Ile) GRCh37: Chr12:76739872 GRCh38: Chr12:76346092	BBS10	M631I	Bardet-Biedl syndrome 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88222783.	NM_024685.4(BBS10):c.1992A>G (p.Ala664=) GRCh37: Chr12:76739773 GRCh38: Chr12:76345993	BBS10		Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 88222684.	NM_024685.4(BBS10):c.*48G>C GRCh37: Chr12:76739545 GRCh38: Chr12:76345765	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88090185.	NM_024685.4(BBS10):c.559C>A (p.His187Asn) GRCh37: Chr12:76741206 GRCh38: Chr12:76347426	BBS10	H187N	Bardet-Biedl syndrome 10	Uncertain significance (Oct 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88090086.	NM_024685.4(BBS10):c.969A>G (p.Ala323=) GRCh37: Chr12:76740796 GRCh38: Chr12:76347016	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88083887.	NM_024685.4(BBS10):c.*264A>T GRCh37: Chr12:76739329 GRCh38: Chr12:76345549	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88083788.	NM_024685.4(BBS10):c.*529C>T GRCh37: Chr12:76739064 GRCh38: Chr12:76345284	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88083689.	NM_024685.4(BBS10):c.*734G>T GRCh37: Chr12:76738859 GRCh38: Chr12:76345079	BBS10		Bardet-Biedl syndrome 10	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 86200490.	NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) GRCh37: Chr12:76740023 GRCh38: Chr12:76346243	BBS10	P581L	Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Uncertain significance (Dec 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86007591.	NM_024685.4(BBS10):c.397C>T (p.Leu133Phe) GRCh37: Chr12:76741368 GRCh38: Chr12:76347588	BBS10	L133F	Bardet-Biedl syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 85846692.	NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) GRCh37: Chr12:76740950 GRCh38: Chr12:76347170	BBS10	G272A	Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Uncertain significance (May 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85790593.	NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp) GRCh37: Chr12:76740125 GRCh38: Chr12:76346345	BBS10	A547D	Inborn genetic diseases, Bardet-Biedl syndrome	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85404094.	NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) GRCh37: Chr12:76740750-76740752 GRCh38: Chr12:76346970-76346972	BBS10	E338del	Bardet-Biedl syndrome	Likely pathogenic (Oct 9, 2022)	criteria provided, single submitter
Select item 85086095.	NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys) GRCh37: Chr12:76740087 GRCh38: Chr12:76346307	BBS10	E560K	Bardet-Biedl syndrome, Bardet-Biedl syndrome 10	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84635196.	NM_024685.4(BBS10):c.908G>C (p.Ser303Thr) GRCh37: Chr12:76740857 GRCh38: Chr12:76347077	BBS10	S303T	Bardet-Biedl syndrome	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 84047597.	NM_024685.4(BBS10):c.1211A>G (p.His404Arg) GRCh37: Chr12:76740554 GRCh38: Chr12:76346774	BBS10	H404R	Bardet-Biedl syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 80287398.	NM_024685.4(BBS10):c.1315del (p.Gln439fs) GRCh37: Chr12:76740450 GRCh38: Chr12:76346670	BBS10	Q439fs	Bardet-Biedl syndrome 10, Bardet-Biedl syndrome	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80287299.	NM_024685.4(BBS10):c.1418T>C (p.Val473Ala) GRCh37: Chr12:76740347 GRCh38: Chr12:76346567	BBS10	V473A	Bardet-Biedl syndrome 10	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 754867100.	NM_024685.4(BBS10):c.607A>G (p.Thr203Ala) GRCh37: Chr12:76741158 GRCh38: Chr12:76347378	BBS10	T203A	Inborn genetic diseases, Bardet-Biedl syndrome	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts

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