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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Bardet-Biedl Syndrome (D020788)
..Starting node ..Bardet-Biedl Syndrome 7 (C565916)
Child Nodes:
Sister Nodes:
..Bardet-Biedl syndrome 1 (C537909)
..Bardet-Biedl Syndrome 10 (C565919)
..Bardet-Biedl Syndrome 11 (C565920)
..Bardet-Biedl Syndrome 12 (C565921)
..Bardet-Biedl Syndrome 13 (C567140)
..Bardet-Biedl Syndrome 14 (C567141)
..BARDET-BIEDL SYNDROME 15 (OMIM:615992)
..BARDET-BIEDL SYNDROME 16 (OMIM:615993)
..BARDET-BIEDL SYNDROME 17 (OMIM:615994)
..BARDET-BIEDL SYNDROME 18 (OMIM:615995)
..BARDET-BIEDL SYNDROME 19 (OMIM:615996)
..Bardet-Biedl syndrome 2 (C537910)
..BARDET-BIEDL SYNDROME 20 (OMIM:617119)
..BARDET-BIEDL SYNDROME 21 (OMIM:617406)
..Bardet-Biedl syndrome 3 (C537911)
..Bardet-Biedl syndrome 4 (C537912)
..BARDET-BIEDL SYNDROME 5 (OMIM:615983)
..Bardet-Biedl Syndrome 6 (C565738)
..Bardet-Biedl Syndrome 7 (C565916)
..Bardet-Biedl Syndrome 8 (C565917)
..Bardet-Biedl Syndrome 9 (C565918)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1243

Name:

Bardet-Biedl Syndrome 7

Definition:

Alternative IDs:

OMIM:615984

ParentIDs:

MESH:D020788

TreeNumbers:

C10.228.140.617.200/C565916 |C11.270.684.624/C565916 |C16.131.077.245.125/C565916 |C16.320.184.125/C565916

Synonyms:

BBS7

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C565916
MeSH: C565916
OMIM: 615984;
MSeqDR :
Genes: BBS7; COL6A1; COL6A2; COL6A3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003241	External genital hypoplasia
3	HP:0001249	Intellectual disability
4	HP:0001513	Obesity
5	HP:0010442	Polydactyly
6	HP:0000510	Rod-cone dystrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_176824.3(BBS7):c.*1526C>T	55212	BBS7	Uncertain significance	546122158	RCV000323702;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122745489	122745489	NC_000004.11:g.122745489G>A	ClinGen:CA10617880	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*1361A>T	55212	BBS7	Uncertain significance	544492413	RCV001144694;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122745654	122745654	4:g.122745654T>A	-
NM_176824.3(BBS7):c.*1324G>A	55212	BBS7	Uncertain significance	181687808	RCV000373586;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122745691	122745691	NC_000004.11:g.122745691C>T	ClinGen:CA10620032	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*1286G>A	55212	BBS7	Benign	1507996	RCV000260314;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122745729	122745729	NC_000004.11:g.122745729C>T	ClinGen:CA10620023	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*1202G>A	55212	BBS7	Benign	3217756	RCV000374584;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122745813	122745813	NC_000004.11:g.122745813C>T	ClinGen:CA10620025	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*1161A>G	55212	BBS7	Uncertain significance	918127402	RCV001144695;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122745854	122745854	4:g.122745854T>C	-
NM_176824.3(BBS7):c.*1139T>C	55212	BBS7	Uncertain significance	542533305	RCV000294276;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122745876	122745876	NC_000004.11:g.122745876A>G	ClinGen:CA10620033	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*996T>C	55212	BBS7	Uncertain significance	886059049	RCV000349240;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746019	122746019	4:g.122746019A>G	ClinGen:CA10617882	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*932T>G	55212	BBS7	Benign	3217755	RCV000387782;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746083	122746083	4:g.122746083A>C	ClinGen:CA10617887	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*828A>G	55212	BBS7	Uncertain significance	879827169	RCV001146562;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746187	122746187	4:g.122746187T>C	-
NM_176824.3(BBS7):c.*724C>T	55212	BBS7	Uncertain significance	1025886041	RCV001146563;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746291	122746291	4:g.122746291G>A	-
NM_176824.3(BBS7):c.*709G>C	55212	BBS7	Uncertain significance	886059050	RCV000343625;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746306	122746306	4:g.122746306C>G	ClinGen:CA10620029	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*690T>C	55212	BBS7	Benign	3217753	RCV000401212;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746325	122746325	4:g.122746325A>G	ClinGen:CA10617888	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*605G>A	55212	BBS7	Uncertain significance	886059051	RCV000290006;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746410	122746410	4:g.122746410C>T	ClinGen:CA10620030	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*513C>T	55212	BBS7	Uncertain significance	577071672	RCV000340340;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746502	122746502	4:g.122746502G>A	ClinGen:CA10620037	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*419T>A	55212	BBS7	Benign	3762840	RCV000390172;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746596	122746596	4:g.122746596A>T	ClinGen:CA10620039	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*353G>A	55212	BBS7	Uncertain significance	570995801	RCV001147567;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746662	122746662	4:g.122746662C>T	-
NM_176824.3(BBS7):c.*304A>C	55212	BBS7	Uncertain significance	886059052	RCV000305294;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746711	122746711	4:g.122746711T>G	ClinGen:CA10620040	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*273T>C	55212	BBS7	Uncertain significance	190252263	RCV000360156;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746742	122746742	4:g.122746742A>G	ClinGen:CA10617889	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.*250T>G	55212	BBS7	Benign	80171619	RCV000392723;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122746765	122746765	4:g.122746765A>C	ClinGen:CA10620041	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)	55212	BBS7	Uncertain significance	-1	RCV002470541;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122747026	122747026	NC_000004.11:g.122747026C>T	-
NM_176824.3(BBS7):c.2136C>T (p.Phe712=)	55212	BBS7	Likely benign	199782217	RCV001490450\|RCV002501680;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122747027	122747027	122747027	-
NM_176824.3(BBS7):c.2106T>G (p.Ser702Arg)	55212	BBS7	Uncertain significance	1229720963	RCV001984378\|RCV002486576;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122747057	122747057	122747057	-
NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser)	55212	BBS7	Uncertain significance	370656021	RCV000168181\|RCV000175491\|RCV001147568\|RCV002516525;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MedGen:CN517202\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MeSH:D030342,MedGen:C0950123	4	122747100	122747100	4:g.122747100T>C	ClinGen:CA241247	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.2012A>G (p.Tyr671Cys)	55212	BBS7	Uncertain significance	1013002037	RCV001297940\|RCV002486141;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749303	122749303	122749303	-
NM_176824.3(BBS7):c.1996C>T (p.His666Tyr)	55212	BBS7	Uncertain significance	1342336710	RCV001244462\|RCV002504352;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749319	122749319	4:g.122749319G>A	-
NM_176824.3(BBS7):c.1991C>T (p.Pro664Leu)	55212	BBS7	Uncertain significance	375084239	RCV001208307\|RCV002491632\|RCV003259152;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MeSH:D030342,MedGen:C0950123	4	122749324	122749324	4:g.122749324G>A	-
NM_176824.3(BBS7):c.1979A>G (p.Tyr660Cys)	55212	BBS7	Uncertain significance	757308523	RCV003316899\|RCV003396993;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|	4	122749336	122749336		-
NM_176824.3(BBS7):c.1972G>A (p.Glu658Lys)	55212	BBS7	Uncertain significance	1044486579	RCV001312302\|RCV002493629;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749343	122749343	122749343	-
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)	55212	BBS7	Pathogenic	672601379	RCV000149506\|RCV001246925\|RCV002274931;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MedGen:C3661900	4	122749347	122749348	NC_000004.11:g.122749347_122749348delinsG	ClinGen:CA273047	C1859565 615984 Bardet-Biedl syndrome 7;
NM_176824.3(BBS7):c.1960G>C (p.Asp654His)	55212	BBS7	Uncertain significance	143632090	RCV001933810\|RCV002491955;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749355	122749355	122749355	-
NM_176824.3(BBS7):c.1946_1947insCTAGATAT (p.Ile649_Leu650insTer)	55212	BBS7	Likely pathogenic	-1	RCV003465099;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749368	122749369		-
NM_176824.3(BBS7):c.1942T>G (p.Cys648Gly)	55212	BBS7	Uncertain significance	201096775	RCV000297219\|RCV001366068;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122749373	122749373	4:g.122749373A>C	ClinGen:CA3064087	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1940A>G (p.His647Arg)	55212	BBS7	Uncertain significance	-1	RCV003228679;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749375	122749375		-
NM_176824.3(BBS7):c.1916C>T (p.Thr639Met)	55212	BBS7	Uncertain significance	773771144	RCV001978364\|RCV002492264;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749399	122749399	122749399	-
NM_176824.3(BBS7):c.1891-2A>C	55212	BBS7	Conflicting interpretations of pathogenicity	1057519027	RCV000416357;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749426	122749426	NC_000004.11:g.122749426T>G	ClinGen:CA16044049	C1859565 615984 Bardet-Biedl syndrome 7;
NM_176824.3(BBS7):c.1891-12C>A	55212	BBS7	Benign	2706793	RCV000250259\|RCV000356781\|RCV000709670\|RCV001520352\|RCV001689948;	N	MedGen:CN169374\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MedGen:C3661900	4	122749436	122749436	4:g.122749436G>T	ClinGen:CA3064096	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1890+15C>T	55212	BBS7	Conflicting interpretations of pathogenicity	761350391	RCV001150898\|RCV002070824;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122749542	122749542	4:g.122749542G>A	-
NM_176824.3(BBS7):c.1851G>C (p.Leu617Phe)	55212	BBS7	Uncertain significance	1725011147	RCV001150899;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749596	122749596	4:g.122749596C>G	-
NM_176824.3(BBS7):c.1846C>T (p.Gln616Ter)	55212	BBS7	Likely pathogenic	-1	RCV003465113;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749601	122749601		-
NM_176824.3(BBS7):c.1804_1807del (p.Val602fs)	55212	BBS7	Likely pathogenic	-1	RCV003465108;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749640	122749643		-
NM_176824.3(BBS7):c.1806C>G (p.Val602=)	55212	BBS7	Likely benign	752970955	RCV000870465\|RCV002478979;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749641	122749641	4:g.122749641G>C	-
NM_176824.3(BBS7):c.1755A>G (p.Thr585=)	55212	BBS7	Likely benign	1725022392	RCV002182951\|RCV002479857;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749805	122749805	122749805	-
NM_176824.3(BBS7):c.1717A>G (p.Ile573Val)	55212	BBS7	Uncertain significance	751029709	RCV001877936\|RCV002503500;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749843	122749843	122749843	-
NM_176824.3(BBS7):c.1685_1686del (p.Glu562fs)	55212	BBS7	Pathogenic	-1	RCV003340679;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749874	122749875		-
NM_176824.3(BBS7):c.1685del (p.Glu562fs)	55212	BBS7	Likely pathogenic	-1	RCV003465110;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749875	122749875		-
NM_176824.3(BBS7):c.1677-2A>G	55212	BBS7	Likely pathogenic	-1	RCV003465102;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122749885	122749885		-
NM_176824.3(BBS7):c.1676+7C>G	55212	BBS7	Uncertain significance	1247015446	RCV001892899\|RCV002478272;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122754379	122754379	122754379	-
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)	55212	BBS7	Pathogenic/Likely pathogenic	773052355	RCV001206041\|RCV002491622;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122754407	122754408	4:g.122754407_122754408insT	-
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr)	55212	BBS7	Uncertain significance	143700362	RCV000263459\|RCV001094937\|RCV002265746;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MedGen:CN169374	4	122754459	122754459	4:g.122754459G>T	ClinGen:CA3064178	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)	55212	BBS7	Likely pathogenic	587777836	RCV000023657;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122754465	122754470	4:g.122754465_122754470del	ClinGen:CA259892,OMIM:607590.0004	C1859565 615984 Bardet-Biedl syndrome 7;
NM_176824.3(BBS7):c.1585C>T (p.Pro529Ser)	55212	BBS7	Uncertain significance	771957843	RCV001341573\|RCV002476575;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122754477	122754477	122754477	-
NM_176824.3(BBS7):c.1579dup (p.Cys527fs)	55212	BBS7	Pathogenic	-1	RCV003465121;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122754482	122754483		-
NM_176824.3(BBS7):c.1574T>G (p.Val525Gly)	55212	BBS7	Uncertain significance	746759579	RCV001210562\|RCV002484141;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122754488	122754488	4:g.122754488A>C	-
NM_176824.3(BBS7):c.1551del (p.Phe517fs)	55212	BBS7	Likely pathogenic	-1	RCV003465101;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122754511	122754511		-
NM_176824.3(BBS7):c.1517T>C (p.Met506Thr)	55212	BBS7	Uncertain significance	200788672	RCV001231500\|RCV002497790;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122754545	122754545	4:g.122754545A>G	-
NM_176824.3(BBS7):c.1513C>T (p.Pro505Ser)	55212	BBS7	Uncertain significance	763160690	RCV001987385\|RCV002484672;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122754549	122754549	122754549	-
NM_176824.3(BBS7):c.1512-1G>A	55212	BBS7	Likely pathogenic	2149054421	RCV001378177\|RCV003462955;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122754551	122754551	122754551	-
NM_176824.3(BBS7):c.1512-7A>T	55212	BBS7	Benign/Likely benign	115987385	RCV000152844\|RCV000709648\|RCV000625061\|RCV001150900;	N	MedGen:CN169374\|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122754557	122754557	4:g.122754557T>A	ClinGen:CA179796	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1511+19C>A	55212	BBS7	Likely benign	201524145	RCV002090940\|RCV002498300;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122756280	122756280	122756280	-
NM_176824.3(BBS7):c.1511+9A>G	55212	BBS7	Likely benign	192602290	RCV001425095\|RCV002495216;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122756290	122756290	4:g.122756290T>C	-
NM_176824.3(BBS7):c.1505A>G (p.His502Arg)	55212	BBS7	Conflicting interpretations of pathogenicity	114718913	RCV000330267\|RCV000435007\|RCV000709647\|RCV001094938\|RCV001700075;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MedGen:C3661900\|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MedGen:CN169374	4	122756305	122756305	4:g.122756305T>C	ClinGen:CA3064214	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1489del (p.Thr497fs)	55212	BBS7	Likely pathogenic	-1	RCV003465123;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122756321	122756321		-
NM_176824.3(BBS7):c.1486A>G (p.Arg496Gly)	55212	BBS7	Uncertain significance	1560643809	RCV001150901;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122756324	122756324	4:g.122756324T>C	-
NM_176824.3(BBS7):c.1471_1472del (p.Leu491fs)	55212	BBS7	Pathogenic	1725388372	RCV001175189;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122756338	122756339	4:g.122756338_122756339del	-
NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter)	55212	BBS7	Conflicting interpretations of pathogenicity	1470030897	RCV000778718\|RCV002536738;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122756352	122756352	NC_000004.11:g.122756352G>T	-
NM_176824.3(BBS7):c.1458C>G (p.Tyr486Ter)	55212	BBS7	Pathogenic/Likely pathogenic	1470030897	RCV001932136\|RCV003464180;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122756352	122756352	122756352	-
NM_176824.3(BBS7):c.1450C>T (p.Arg484Cys)	55212	BBS7	Uncertain significance	747889031	RCV001909039\|RCV002507006;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122756360	122756360	122756360	-
NM_176824.3(BBS7):c.1443T>A (p.Cys481Ter)	55212	BBS7	Pathogenic	-1	RCV003465103;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122756367	122756367		-
NM_176824.3(BBS7):c.1442G>A (p.Cys481Tyr)	55212	BBS7	Uncertain significance	886059053	RCV000368544;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122756368	122756368	4:g.122756368C>T	ClinGen:CA10617890	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1381A>G (p.Ile461Val)	55212	BBS7	Uncertain significance	141224967	RCV001037262\|RCV001144793\|RCV002552474\|RCV003396631;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MeSH:D030342,MedGen:C0950123\|	4	122756429	122756429	4:g.122756429T>C	-
NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu)	55212	BBS7	Uncertain significance	-1	RCV003228670;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122756431	122756431		-
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys)	55212	BBS7	Uncertain significance	150743868	RCV000500081\|RCV000787793\|RCV001054420\|RCV001144794\|RCV002527207\|RCV003409691;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984,Or	4	122756435	122756435	NC_000004.11:g.122756435G>A	ClinGen:CA3064234	CN169374 not specified;
NM_176824.3(BBS7):c.1372-19C>G	55212	BBS7	Likely benign	1725398365	RCV002129362\|RCV002494256;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122756457	122756457	122756457	-
NM_176824.3(BBS7):c.1371+1G>A	55212	BBS7	Likely pathogenic	1578537379	RCV000820079\|RCV003461265;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122760785	122760785	4:g.122760785C>T	-
NM_176824.3(BBS7):c.1340G>A (p.Cys447Tyr)	55212	BBS7	Uncertain significance	2149061880	RCV001823848;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122760817	122760817	122760817	-
NM_176824.3(BBS7):c.1337G>A (p.Arg446Gln)	55212	BBS7	Conflicting interpretations of pathogenicity	372685495	RCV001823853\|RCV002074381;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122760820	122760820	122760820	-
NM_176824.3(BBS7):c.1336C>T (p.Arg446Trp)	55212	BBS7	Uncertain significance	768987725	RCV001908599\|RCV002478281;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122760821	122760821	122760821	-
NM_176824.3(BBS7):c.1334A>G (p.Tyr445Cys)	55212	BBS7	Uncertain significance	776931328	RCV001144795;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122760823	122760823	4:g.122760823T>C	-
NM_176824.3(BBS7):c.1311C>T (p.Asn437=)	55212	BBS7	Conflicting interpretations of pathogenicity	199812109	RCV000276316\|RCV001094775;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122760846	122760846	4:g.122760846G>A	ClinGen:CA3064258	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1306-1_1308del	55212	BBS7	Pathogenic/Likely pathogenic	-1	RCV002952531\|RCV003464640;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122760849	122760852	NC_000004.11:g.122760851_122760854del	-
NM_176824.3(BBS7):c.1306-5C>T	55212	BBS7	Conflicting interpretations of pathogenicity	1475632900	RCV001144796\|RCV002559397;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122760856	122760856	4:g.122760856G>A	-
NM_176824.3(BBS7):c.1305+13A>G	55212	BBS7	Likely benign	773872987	RCV002178361\|RCV002494510;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122765069	122765069	122765069	-
NM_176824.3(BBS7):c.1263T>A (p.Asp421Glu)	55212	BBS7	Uncertain significance	146412602	RCV001040104\|RCV001144797\|RCV003425888;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|	4	122765124	122765124	4:g.122765124A>T	-
NM_176824.3(BBS7):c.1235A>G (p.Asp412Gly)	55212	BBS7	Conflicting interpretations of pathogenicity	111442398	RCV000762107\|RCV001083688\|RCV001144798;	N	MedGen:C3661900\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122765152	122765152	4:g.122765152T>C	ClinGen:CA3064285	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1234G>T (p.Asp412Tyr)	55212	BBS7	Uncertain significance	758567781	RCV000333622\|RCV001861225\|RCV002520201;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MeSH:D030342,MedGen:C0950123	4	122765153	122765153	4:g.122765153C>A	ClinGen:CA3064286	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1231-15dup	55212	BBS7	Benign/Likely benign	747444432	RCV002112265\|RCV002499918;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122765170	122765171	122765170	-
NM_176824.3(BBS7):c.1231-16T>C	55212	BBS7	Likely benign	781657811	RCV002153909\|RCV002494466;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122765172	122765172	122765172	-
NM_176824.3(BBS7):c.1217_1218del (p.Asn406fs)	55212	BBS7	Pathogenic	1725961307	RCV001175190;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122766671	122766672	4:g.122766671_122766672del	-
NM_176824.3(BBS7):c.1201C>T (p.Gln401Ter)	55212	BBS7	Likely pathogenic	-1	RCV003465118;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122766688	122766688		-
NM_176824.3(BBS7):c.1190_1194del (p.Ile397fs)	55212	BBS7	Likely pathogenic	-1	RCV003465125;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122766695	122766699		-
NM_176824.3(BBS7):c.1158A>G (p.Thr386=)	55212	BBS7	Conflicting interpretations of pathogenicity	146617227	RCV000363420\|RCV000381224\|RCV001094823\|RCV001820824;	N	MedGen:CN517202\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MedGen:CN169374	4	122766731	122766731	4:g.122766731T>C	ClinGen:CA3064312	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1158A>T (p.Thr386=)	55212	BBS7	Likely benign	146617227	RCV001486049\|RCV002495724;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122766731	122766731	122766731	-
NM_176824.3(BBS7):c.1097C>T (p.Ser366Phe)	55212	BBS7	Uncertain significance	200373010	RCV001304982\|RCV002499572\|RCV003426035;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|	4	122766792	122766792	122766792	-
NM_176824.3(BBS7):c.1083_1084del (p.Asn362fs)	55212	BBS7	Pathogenic/Likely pathogenic	577434138	RCV001381542\|RCV003462978;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122766805	122766806	122766804	-
NM_176824.3(BBS7):c.1072C>T (p.Gln358Ter)	55212	BBS7	Likely pathogenic	-1	RCV003465117;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122766817	122766817		-
NM_176824.3(BBS7):c.1069T>G (p.Leu357Val)	55212	BBS7	Uncertain significance	906692940	RCV001905377\|RCV002482528;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122766820	122766820	122766820	-
NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer)	55212	BBS7	Pathogenic/Likely pathogenic	773139166	RCV000296638\|RCV000696169\|RCV001535892;	N	MedGen:C3661900\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122766826	122766827	4:g.122766826_122766827del	ClinGen:CA3064322	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1056G>A (p.Leu352=)	55212	BBS7	Likely benign	377163503	RCV001407100\|RCV002504680;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122766833	122766833	122766833	-
NM_176824.3(BBS7):c.1038-16A>G	55212	BBS7	Likely benign	201278442	RCV002097510\|RCV002507952;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122766867	122766867	122766867	-
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln)	55212	BBS7	Conflicting interpretations of pathogenicity	370716101	RCV000173926\|RCV003221833\|RCV003462274;	N	MedGen:C3661900\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122768559	122768559	4:g.122768559C>T	ClinGen:CA239398	CN169374 not specified;
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter)	55212	BBS7	Pathogenic	1726067442	RCV001266034\|RCV003462843;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122768581	122768581	4:g.122768581G>A	-
NM_176824.3(BBS7):c.1012A>T (p.Met338Leu)	55212	BBS7	Uncertain significance	1726067918	RCV001331879;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122768584	122768584	122768584	-
NM_176824.3(BBS7):c.983C>A (p.Pro328Gln)	55212	BBS7	Uncertain significance	778714139	RCV001882243\|RCV002482725;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122768613	122768613	122768613	-
NM_176824.3(BBS7):c.968A>G (p.His323Arg)	55212	BBS7	Pathogenic/Likely pathogenic	119466001	RCV000003151\|RCV001091375\|RCV001240994;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MedGen:C3661900\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122768628	122768628	4:g.122768628T>C	OMIM:607590.0001,ClinGen:CA252533,UniProtKB:Q8IWZ6#VAR_017213	C1859565 615984 Bardet-Biedl syndrome 7;
NM_176824.3(BBS7):c.949C>G (p.Leu317Val)	55212	BBS7	Pathogenic	869025207	RCV000207525;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122768647	122768647	4:g.122768647G>C	ClinGen:CA351663	C1859565 615984 Bardet-Biedl syndrome 7;
NM_176824.3(BBS7):c.944C>T (p.Thr315Ile)	55212	BBS7	Uncertain significance	1488474028	RCV001316586\|RCV002486243\|RCV003166818;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MeSH:D030342,MedGen:C0950123	4	122768652	122768652	122768652	-
NM_176824.3(BBS7):c.934+17T>C	55212	BBS7	Likely benign	1165897878	RCV002093358\|RCV002486857;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122769982	122769982	122769982	-
NM_176824.3(BBS7):c.932C>G (p.Ser311Ter)	55212	BBS7	Likely pathogenic	-1	RCV003465107;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122770001	122770001		-
NM_176824.3(BBS7):c.917T>C (p.Val306Ala)	55212	BBS7	Uncertain significance	373378747	RCV001327455\|RCV001337097\|RCV003169538;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MeSH:D030342,MedGen:C0950123	4	122770016	122770016	122770016	-
NM_176824.3(BBS7):c.896A>G (p.Lys299Arg)	55212	BBS7	Uncertain significance	1726155956	RCV001146679;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122770037	122770037	4:g.122770037T>C	-
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg)	55212	BBS7	Pathogenic	1726157542	RCV001170036;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122770053	122770053	4:g.122770053C>G	-
NM_176824.3(BBS7):c.878A>C (p.Gln293Pro)	55212	BBS7	Pathogenic/Likely pathogenic	889417696	RCV001328270\|RCV003462850;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122770055	122770055	122770055	-
NM_176824.3(BBS7):c.849+1G>C	55212	BBS7	Likely pathogenic	763719688	RCV002013650\|RCV003337389;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122774110	122774110	122774110	-
NM_176824.3(BBS7):c.849+1G>A	55212	BBS7	Likely pathogenic	-1	RCV003465104;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122774110	122774110		-
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)	55212	BBS7	Pathogenic/Likely pathogenic	151275562	RCV001234439\|RCV001810000;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122774122	122774122	4:g.122774122G>A	-
NM_176824.3(BBS7):c.790G>T (p.Gly264Ter)	55212	BBS7	Likely pathogenic	-1	RCV003465122;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122774170	122774170		-
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr)	55212	BBS7	Conflicting interpretations of pathogenicity	727503821	RCV000152845\|RCV001384254\|RCV002250576;	N	MedGen:C3661900\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122774232	122774232	4:g.122774232C>T	ClinGen:CA233521	CN169374 not specified;
NM_176824.3(BBS7):c.725dup (p.Leu242fs)	55212	BBS7	Likely pathogenic	-1	RCV003465098;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122774234	122774235		-
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)	55212	BBS7	Conflicting interpretations of pathogenicity	761403504	RCV000625890\|RCV001567842\|RCV001584454;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MedGen:CN517202\|MedGen:CN169374	4	122774241	122774241	4:g.122774241C>T	ClinGen:CA358064762	C1859565 615984 Bardet-Biedl syndrome 7;
NM_176824.3(BBS7):c.719-2A>G	55212	BBS7	Likely pathogenic	-1	RCV003465120;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122774243	122774243		-
NM_176824.3(BBS7):c.718+1G>C	55212	BBS7	Likely pathogenic	-1	RCV003465109;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122775858	122775858		-
NM_176824.3(BBS7):c.709_712del (p.Lys237fs)	55212	BBS7	Pathogenic	587777812	RCV000003153;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122775865	122775868	NC_000004.11:g.122775866_122775869del	ClinGen:CA252535,OMIM:607590.0003	C1859565 615984 Bardet-Biedl syndrome 7;
NM_176824.3(BBS7):c.683G>A (p.Arg228His)	55212	BBS7	Uncertain significance	369866009	RCV000638354\|RCV001816580\|RCV002492983;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MedGen:CN169374\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122775894	122775894	NC_000004.11:g.122775894C>T	ClinGen:CA3064434	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.651G>A (p.Ala217=)	55212	BBS7	Conflicting interpretations of pathogenicity	750691939	RCV000289159\|RCV002057914;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122775926	122775926	NC_000004.11:g.122775926C>T	ClinGen:CA3064442	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.649dup (p.Ala217fs)	55212	BBS7	Pathogenic/Likely pathogenic	886044668	RCV000339724\|RCV003463780;	N	MedGen:C3661900\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122775927	122775928	4:g.122775927_122775928insC	ClinGen:CA10607037	C1859565 615984 Bardet-Biedl syndrome 7;
NM_176824.3(BBS7):c.650C>T (p.Ala217Val)	55212	BBS7	Uncertain significance	370510563	RCV002540594\|RCV001774548\|RCV002488603;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MedGen:C3661900\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122775927	122775927	122775927	-
NM_176824.3(BBS7):c.640G>A (p.Gly214Arg)	55212	BBS7	Uncertain significance	1226167451	RCV002041266\|RCV002486746;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122775937	122775937	122775937	-
NM_176824.3(BBS7):c.640G>C (p.Gly214Arg)	55212	BBS7	Uncertain significance	-1	RCV002283976;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122775937	122775937	122775937	-
NM_176824.3(BBS7):c.632C>T (p.Thr211Ile)	55212	BBS7	Pathogenic	119466002	RCV000003152\|RCV000456825\|RCV002482819;	N	MedGen:C4016435\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122775945	122775945	4:g.122775945G>A	ClinGen:CA252534,UniProtKB:Q8IWZ6#VAR_017212,OMIM:607590.0002	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.613_614del (p.Glu205fs)	55212	BBS7	Likely pathogenic	-1	RCV003465116;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122775963	122775964		-
NM_176824.3(BBS7):c.601+3A>G	55212	BBS7	Conflicting interpretations of pathogenicity	747555346	RCV001039963\|RCV002479256\|RCV003396640;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|	4	122776641	122776641	4:g.122776641T>C	-
NM_176824.3(BBS7):c.600C>T (p.Gly200=)	55212	BBS7	Uncertain significance	370053625	RCV001146680\|RCV001319835;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122776645	122776645	4:g.122776645G>A	-
NM_176824.3(BBS7):c.600C>A (p.Gly200=)	55212	BBS7	Uncertain significance	370053625	RCV001359985\|RCV002486504;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122776645	122776645	122776645	-
NM_176824.3(BBS7):c.590A>G (p.Asn197Ser)	55212	BBS7	Uncertain significance	-1	RCV002468507\|RCV002571426;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MeSH:D030342,MedGen:C0950123	4	122776655	122776655	NC_000004.11:g.122776655T>C	-
NM_176824.3(BBS7):c.587A>G (p.His196Arg)	55212	BBS7	Uncertain significance	886059054	RCV000327791;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122776658	122776658	NC_000004.11:g.122776658T>C	ClinGen:CA10620038	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.526C>T (p.Gln176Ter)	55212	BBS7	Likely pathogenic	2149084783	RCV002251262;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122780149	122780149	122780149	-
NM_176824.3(BBS7):c.517dup (p.Arg173fs)	55212	BBS7	Likely pathogenic	-1	RCV003465112;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122780157	122780158		-
NM_176824.3(BBS7):c.500_501insTATGAG (p.Cys167_Gln168insMetSer)	55212	BBS7	Pathogenic	1578564877	RCV001002713;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122780174	122780175	4:g.122780174_122780175insCTCATA	-
NM_176824.3(BBS7):c.500G>A (p.Cys167Tyr)	55212	BBS7	Uncertain significance	-1	RCV003143750;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122780175	122780175	NC_000004.11:g.122780175C>T	-
NM_176824.3(BBS7):c.497C>T (p.Ala166Val)	55212	BBS7	Conflicting interpretations of pathogenicity	1341540567	RCV001262591\|RCV001880045\|RCV002252349;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|	4	122780178	122780178	4:g.122780178G>A	-
NM_176824.3(BBS7):c.487C>T (p.Pro163Ser)	55212	BBS7	Uncertain significance	370690441	RCV000384494;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122780188	122780188	NC_000004.11:g.122780188G>A	ClinGen:CA3064506	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.479G>A (p.Arg160His)	55212	BBS7	Uncertain significance	138270119	RCV001236190\|RCV002491763;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122780196	122780196	4:g.122780196C>T	-
NM_176824.3(BBS7):c.442A>C (p.Asn148His)	55212	BBS7	Uncertain significance	982037757	RCV001331880\|RCV001820027\|RCV001871827\|RCV003127808;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MedGen:CN169374\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MedGen:CN517202	4	122780233	122780233	122780233	-
NM_176824.3(BBS7):c.420T>G (p.Tyr140Ter)	55212	BBS7	Likely pathogenic	-1	RCV003465106;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122780255	122780255		-
NM_176824.3(BBS7):c.389_390del (p.Asn130fs)	55212	BBS7	Pathogenic/Likely pathogenic	863224530	RCV000200204\|RCV000710060;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122780285	122780286	4:g.122780285_122780286del	ClinGen:CA339158	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.341+2T>C	55212	BBS7	Likely pathogenic	-1	RCV003465119;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122782657	122782657		-
NM_176824.3(BBS7):c.340A>C (p.Met114Leu)	55212	BBS7	Uncertain significance	142305911	RCV001222983\|RCV002480732\|RCV003426001;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|	4	122782660	122782660	4:g.122782660T>G	-
NM_176824.3(BBS7):c.340A>G (p.Met114Val)	55212	BBS7	Uncertain significance	142305911	RCV001294977\|RCV002493550;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122782660	122782660	122782660	-
NM_176824.3(BBS7):c.331A>T (p.Ile111Phe)	55212	BBS7	Uncertain significance	1726975256	RCV001146681;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122782669	122782669	4:g.122782669T>A	-
NM_176824.3(BBS7):c.329G>A (p.Ser110Asn)	55212	BBS7	Uncertain significance	775395171	RCV001351457\|RCV002486452;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122782671	122782671	122782671	-
NM_176824.3(BBS7):c.328del (p.Ser110fs)	55212	BBS7	Likely pathogenic	-1	RCV003465124;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122782672	122782672		-
NM_176824.3(BBS7):c.302T>A (p.Leu101His)	55212	BBS7	Uncertain significance	760863058	RCV001526711\|RCV001873710;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122782698	122782698	122782698	-
NM_176824.3(BBS7):c.293_294del (p.Lys98fs)	55212	BBS7	Likely pathogenic	-1	RCV003465126;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122782706	122782707		-
NM_176824.3(BBS7):c.288_289del (p.Gly97fs)	55212	BBS7	Pathogenic	-1	RCV003465105;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122782711	122782712		-
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser)	55212	BBS7	Conflicting interpretations of pathogenicity	202102193	RCV000152846\|RCV000283074\|RCV001094847;	N	MedGen:C3661900\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122782720	122782720	4:g.122782720T>A	ClinGen:CA233523	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.271A>G (p.Arg91Gly)	55212	BBS7	Uncertain significance	1050167281	RCV001070523\|RCV002480438;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122782729	122782729	4:g.122782729T>C	-
NM_176824.3(BBS7):c.198T>G (p.Ile66Met)	55212	BBS7	Conflicting interpretations of pathogenicity	367765050	RCV001373159\|RCV003462939;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122782802	122782802	122782802	-
NM_176824.3(BBS7):c.191C>T (p.Pro64Leu)	55212	BBS7	Uncertain significance	747055521	RCV001360946\|RCV002476645\|RCV002550014;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MeSH:D030342,MedGen:C0950123	4	122782809	122782809	122782809	-
NM_176824.3(BBS7):c.187G>A (p.Gly63Arg)	55212	BBS7	Pathogenic/Likely pathogenic	754579374	RCV001292625\|RCV001328271;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122782813	122782813	122782813	-
NM_176824.3(BBS7):c.171G>A (p.Val57=)	55212	BBS7	Conflicting interpretations of pathogenicity	144525608	RCV000553780\|RCV001147657;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122782829	122782829	4:g.122782829C>T	ClinGen:CA3064566	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.165+16T>C	55212	BBS7	Likely benign	371497491	RCV002139295\|RCV002481001;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122784356	122784356	122784356	-
NM_176824.3(BBS7):c.149dup (p.Lys51fs)	55212	BBS7	Likely pathogenic	-1	RCV003465100;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122784387	122784388		-
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu)	55212	BBS7	Likely pathogenic	1221499782	RCV000625806;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122784412	122784412	4:g.122784412C>T	ClinGen:CA358045190	C1859565 615984 Bardet-Biedl syndrome 7;
NM_176824.3(BBS7):c.115_116del (p.Asp39fs)	55212	BBS7	Likely pathogenic	-1	RCV003465111;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122784421	122784422		-
NM_176824.3(BBS7):c.110T>C (p.Ile37Thr)	55212	BBS7	Uncertain significance	-1	RCV003448597;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122784427	122784427		-
NM_176824.3(BBS7):c.97C>T (p.Gln33Ter)	55212	BBS7	Likely pathogenic	-1	RCV003465115;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122789141	122789141		-
NM_176824.3(BBS7):c.87_88del (p.His29fs)	55212	BBS7	Pathogenic/Likely pathogenic	1578577361	RCV000991427\|RCV001002884;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122789150	122789151	4:g.122789150_122789151del	-
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr)	55212	BBS7	Uncertain significance	766450289	RCV001243760\|RCV003448383;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122789162	122789162	4:g.122789162C>T	-
NM_176824.3(BBS7):c.72del (p.Pro25fs)	55212	BBS7	Likely pathogenic	-1	RCV003465114;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122789166	122789166		-
NM_176824.3(BBS7):c.12_35dup (p.Leu11_Gln12insHisLeuAsnArgMetAspTyrLeu)	55212	BBS7	Uncertain significance	-1	RCV003340993;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122791433	122791434		-
NM_176824.3(BBS7):c.22A>T (p.Met8Leu)	55212	BBS7	Uncertain significance	757370927	RCV001360900\|RCV002486510;	N	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110\|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122791447	122791447	122791447	-
NM_176824.3(BBS7):c.11T>C (p.Ile4Thr)	55212	BBS7	Conflicting interpretations of pathogenicity	542274936	RCV000340451\|RCV001453261;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110	4	122791458	122791458	NC_000004.11:g.122791458A>G	ClinGen:CA3064641	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.-19G>C	55212	BBS7	Uncertain significance	757523715	RCV000397213\|RCV000767306;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MedGen:CN517202	4	122791487	122791487	NC_000004.11:g.122791487C>G	ClinGen:CA3064650	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.-98C>T	55212	BBS7	Uncertain significance	546649349	RCV001147658;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122791566	122791566	4:g.122791566G>A	-
NM_176824.3(BBS7):c.-133C>G	55212	BBS7	Benign	2271176	RCV000286384\|RCV001683383;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110\|MedGen:C3661900	4	122791601	122791601	NC_000004.11:g.122791601G>C	ClinGen:CA10617022	C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.-137A>G	55212	BBS7	Uncertain significance	1727529496	RCV001147659;	N	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110	4	122791605	122791605	4:g.122791605T>C	-

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