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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Hypothalamic Diseases (D007027)
..Starting node ..Bardet-Biedl Syndrome (D020788)
Child 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 2 (C537910)
........Bardet-Biedl syndrome 3 (C537911)
........Bardet-Biedl syndrome 4 (C537912)
........Bardet-Biedl Syndrome 6 (C565738)
........Bardet-Biedl Syndrome 7 (C565916)
........Bardet-Biedl Syndrome 8 (C565917)
........Bardet-Biedl Syndrome 9 (C565918)
Sister Nodes:
..Bardet-Biedl Syndrome (D020788) 13
..Hypothalamic hamartomas (C537158)
..Hypothalamic Neoplasms (D007029) 7
..Laurence-Moon Syndrome (D007849)
..Microgastria limb reduction defect (C537554)
..Pituitary Diseases (D010900) 60
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1152

Name:

Bardet-Biedl Syndrome

Definition:

An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)

Alternative IDs:

OMIM:209900

ParentIDs:

MESH:D000015|MESH:D007027

TreeNumbers:

C10.228.140.617.200 |C16.131.077.112

Synonyms:

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: D020788
MeSH: D020788
OMIM: 209900;

Genes: ARL6; BBS1; CCDC28B; TMEM67;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000077	Abnormality of the kidney
3	HP:0000137	Abnormality of the ovary
4	HP:0002251	Aganglionic megacolon	HP:0040283
5	HP:0002099	Asthma
6	HP:0000483	Astigmatism
7	HP:0001251	Ataxia
8	HP:0001080	Biliary tract abnormality
9	HP:0001156	Brachydactyly
10	HP:0001769	Broad foot
11	HP:0000518	Cataract
12	HP:0008734	Decreased testicular size
13	HP:0000750	Delayed speech and language development
14	HP:0000678	Dental crowding
15	HP:0000819	Diabetes mellitus
16	HP:0001829	Foot polydactyly
17	HP:0002141	Gait imbalance
18	HP:0000501	Glaucoma
19	HP:0001263	Global developmental delay
20	HP:0000365	Hearing impairment
21	HP:0001395	Hepatic fibrosis
22	HP:0000218	High palate
23	HP:0002705	High, narrow palate
24	HP:0001007	Hirsutism
25	HP:0000822	Hypertension
26	HP:0000668	Hypodontia
27	HP:0000135	Hypogonadism
28	HP:0001249	Intellectual disability
29	HP:0001712	Left ventricular hypertrophy
30	HP:0000256	Macrocephaly
31	HP:0000054	Micropenis
32	HP:0000545	Myopia
33	HP:0009806	Nephrogenic diabetes insipidus
34	HP:0002167	Neurological speech impairment
35	HP:0000639	Nystagmus
36	HP:0001513	Obesity
37	HP:0002370	Poor coordination
38	HP:0001162	Postaxial hand polydactyly
39	HP:0009466	Radial deviation of finger
40	HP:0000546	Retinal degeneration
41	HP:0000510	Rod-cone dystrophy
42	HP:0001773	Short foot
43	HP:0001328	Specific learning disability
44	HP:0000486	Strabismus
45	HP:0001159	Syndactyly
46	HP:0000148	Vaginal atresia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_024649.4(BBS1):c.831-3C>G	-1	-	Pathogenic	113994179	RCV000020905;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66290924	66290924	NM_024649.4:c.831-3C>G		NC_000011.9:g.66290924C>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.887delT (p.Ile296Thrfs)	-1	-	Pathogenic	794727006	RCV000173898;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66290983	66290983	NM_024649.4:c.887delT	NP_078925.3:p.Ile296Thrfs	NC_000011.9:g.66290983delT	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.1012C>T (p.Gln338Ter)	-1	-	Pathogenic	869025205	RCV000207577;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66291255	66291255	NM_024649.4:c.1012C>T	NP_078925.3:p.Gln338Ter	NC_000011.9:g.66291255C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.1131_1135delCTTTG (p.Cys377Trpfs)	-1	-	Likely pathogenic	786204701	RCV000169515;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66293614	66293618	NM_024649.4:c.1131_1135delCTTTG	NP_078925.3:p.Cys377Trpfs	NC_000011.9:g.66293614_66293618delCTTTG	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.1139G>A (p.Arg380Gln)	-1	-	Uncertain significance	758139447	RCV000196228;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66293622	66293622	NM_024649.4:c.1139G>A	NP_078925.3:p.Arg380Gln	NC_000011.9:g.66293622G>A	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg)	-1	-	Pathogenic	113624356	RCV000012926; RCV000174408; RCV000082202; RCV000210319;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C0854723,SNOMED CT:314407005; MedGen:C2936862; MedGen:CN221809	11	66293652	66293652	NM_024649.4:c.1169T>G	NP_078925.3:p.Met390Arg	NC_000011.9:g.66293652T>G	HGMD:CM021489,OMIM Allelic Variant:209901.0001	C0752166 209900 Bardet-Biedl syndrome; C2936862 Bardet-Biedl syndrome 1; CN221809 not provided; C0854723 Retinal dystrophy
NM_024649.4(BBS1):c.1285C>T (p.Arg429Ter)	-1	-	Likely pathogenic	768443448	RCV000169362;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66294224	66294224	NM_024649.4:c.1285C>T	NP_078925.3:p.Arg429Ter	NC_000011.9:g.66294224C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.1340-2A>G	-1	-	Pathogenic	113994180	RCV000020904;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66297288	66297288	NM_024649.4:c.1340-2A>G		NC_000011.9:g.66297288A>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.1568_1570delACA (p.Asn524del)	-1	-	Uncertain significance	863224782	RCV000198771;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66298459	66298461	NM_024649.4:c.1568_1570delACA	NP_078925.3:p.Asn524del	NC_000011.9:g.66298459_66298461delACA	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.1645G>T (p.Glu549Ter)	-1	-	Likely pathogenic;Pathogenic	121917777	RCV000012927; RCV000169202;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C2936862	11	66299163	66299163	NM_024649.4:c.1645G>T	NP_078925.3:p.Glu549Ter	NC_000011.9:g.66299163G>T	OMIM Allelic Variant:209901.0002	C0752166 209900 Bardet-Biedl syndrome; C2936862 Bardet-Biedl syndrome 1
NM_012210.3(TRIM32):c.257T>C (p.Ile86Thr)	-1	-	Uncertain significance	200326473	RCV000205901; RCV000154018;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN221809	9	119460278	119460278	NM_012210.3:c.257T>C	NP_036342.2:p.Ile86Thr	NC_000009.11:g.119460278T>C	-	C0752166 209900 Bardet-Biedl syndrome; CN221809 not provided
NM_012210.3(TRIM32):c.388C>T (p.Pro130Ser)	-1	-	Pathogenic	111033571	RCV000007776; RCV000199127;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C1859569,OMIM:615988	9	119460409	119460409	NM_012210.3:c.388C>T	NP_036342.2:p.Pro130Ser	NC_000009.11:g.119460409C>T	OMIM Allelic Variant:602290.0002	C0752166 209900 Bardet-Biedl syndrome; C1859569 615988 Bardet-Biedl syndrome 11
NM_177976.2(ARL6):c.272T>C (p.Ile91Thr)	84100	ARL6	Pathogenic	137854907	RCV000058868;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	3	97503816	97503816	NM_177976.2:c.272T>C	NP_816931.1:p.Ile91Thr	NC_000003.11:g.97503816T>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter)	92482	BBIP1	Pathogenic	515726134	RCV000114318; RCV000114434;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN220295,OMIM:615995	10	112660224	112660224	NM_001195306.1:c.173T>G	NP_001182235.1:p.Leu58Ter	10:g.112660224A>C	OMIM Allelic Variant:613605.0001	C0752166 209900 Bardet-Biedl syndrome; CN220295 615995 Bardet-Biedl syndrome 18
NM_024649.4(BBS1):c.-3_37del40	582	BBS1	Pathogenic	113994178	RCV000020906;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66278128	66278167	NM_024649.4:c.-3_37del40		NC_000011.9:g.66278128_66278167del40	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.48-3C>G	582	BBS1	Pathogenic	869025204	RCV000207828;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66278481	66278481	NM_024649.4:c.48-3C>G		NC_000011.9:g.66278481C>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.432+1G>A	582	BBS1	Likely pathogenic;Pathogenic	587777829	RCV000012928; RCV000169013;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C2936862	11	66282150	66282150	NM_024649.4:c.432+1G>A		NC_000011.9:g.66282150G>A	OMIM Allelic Variant:209901.0003	C0752166 209900 Bardet-Biedl syndrome; C2936862 Bardet-Biedl syndrome 1
NM_024649.4(BBS1):c.436C>T (p.Arg146Ter)	582	BBS1	Likely pathogenic	786204444	RCV000169066;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66283014	66283014	NM_024649.4:c.436C>T	NP_078925.3:p.Arg146Ter	NC_000011.9:g.66283014C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.670G>A (p.Glu224Lys)	582	BBS1	Likely pathogenic	193922709	RCV000029404;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66287166	66287166	NM_024649.4:c.670G>A	NP_078925.3:p.Glu224Lys	NC_000011.9:g.66287166G>A	-	C0752166 209900 Bardet-Biedl syndrome
NM_024649.4(BBS1):c.700G>A (p.Glu234Lys)	582	BBS1	Pathogenic	35520756	RCV000029405;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	11	66287196	66287196	NM_024649.4:c.700G>A	NP_078925.3:p.Glu234Lys	NC_000011.9:g.66287196G>A	OMIM Allelic Variant:209901.0006	C0752166 209900 Bardet-Biedl syndrome
NM_024685.3(BBS10):c.1736A>G (p.Lys579Arg)	79738	BBS10	Likely pathogenic	141521925	RCV000029402;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	12	76740029	76740029	NM_024685.3:c.1736A>G	NP_078961.3:p.Lys579Arg	NC_000012.11:g.76740029T>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_024685.3(BBS10):c.1631A>G (p.Asn544Ser)	79738	BBS10	Benign	34737974	RCV000204319; RCV000152824;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN169374	12	76740134	76740134	NM_024685.3:c.1631A>G	NP_078961.3:p.Asn544Ser	NC_000012.11:g.76740134T>C	-	C0752166 209900 Bardet-Biedl syndrome; CN169374 not specified
NM_024685.3(BBS10):c.1245T>C (p.His415=)	79738	BBS10	Likely benign	147241753	RCV000029401;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	12	76740520	76740520	NM_024685.3:c.1245T>C	NP_078961.3:p.His415=	NC_000012.11:g.76740520A>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_024685.3(BBS10):c.1185C>G (p.His395Gln)	79738	BBS10	Uncertain significance	863224793	RCV000197080;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	12	76740580	76740580	NM_024685.3:c.1185C>G	NP_078961.3:p.His395Gln	NC_000012.11:g.76740580G>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_024685.3(BBS10):c.1144G>T (p.Val382Phe)	79738	BBS10	Uncertain significance	775492103	RCV000200691;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	12	76740621	76740621	NM_024685.3:c.1144G>T	NP_078961.3:p.Val382Phe	NC_000012.11:g.76740621C>A	-	C0752166 209900 Bardet-Biedl syndrome
NM_024685.3(BBS10):c.1091delA (p.Asn364Thrfs)	79738	BBS10	Likely pathogenic;Pathogenic	727503818	RCV000169072; RCV000152827;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C1859568,OMIM:615987	12	76740674	76740674	NM_024685.3:c.1091delA	NP_078961.3:p.Asn364Thrfs	NC_000012.11:g.76740674delT	HGMD:CD102573	C0752166 209900 Bardet-Biedl syndrome; C1859568 615987 Bardet-Biedl syndrome 10
NM_024685.3(BBS10):c.687delT (p.Val230Phefs)	79738	BBS10	Pathogenic	761101213	RCV000197461;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	12	76741078	76741078	NM_024685.3:c.687delT	NP_078961.3:p.Val230Phefs	NC_000012.11:g.76741078delA	-	C0752166 209900 Bardet-Biedl syndrome
NM_024685.3(BBS10):c.531C>A (p.Tyr177Ter)	79738	BBS10	Pathogenic	863224522	RCV000196568;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	12	76741234	76741234	NM_024685.3:c.531C>A	NP_078961.3:p.Tyr177Ter	NC_000012.11:g.76741234G>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_024685.3(BBS10):c.424G>A (p.Asp142Asn)	79738	BBS10	Benign;Likely benign;Uncertain significance	142863601	RCV000029403; RCV000152829;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN169374	12	76741341	76741341	NM_024685.3:c.424G>A	NP_078961.3:p.Asp142Asn	NC_000012.11:g.76741341C>T	HGMD:CM111659	C0752166 209900 Bardet-Biedl syndrome; CN169374 not specified
NM_024685.3(BBS10):c.271dupT (p.Cys91Leufs)	79738	BBS10	Pathogenic	549625604	RCV000001391; RCV000168127; RCV000144680;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C1859568,OMIM:615987; MedGen:C4017660	12	76741494	76741494	NM_024685.3:c.271dupT	NP_078961.3:p.Cys91Leufs	NC_000012.11:g.76741494dupA	OMIM Allelic Variant:610148.0001	C0752166 209900 Bardet-Biedl syndrome; C1859568 615987 Bardet-Biedl syndrome 10; C4017660 Bardet-biedl syndrome 6/10, digenic
NM_152618.2(BBS12):c.212A>G (p.Asn71Ser)	166379	BBS12	Likely benign	143960329	RCV000198717;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	123663259	123663259	NM_152618.2:c.212A>G	NP_689831.2:p.Asn71Ser	NC_000004.11:g.123663259A>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_001178007.1(BBS12):c.323C>G (p.Pro108Arg)	166379	BBS12	Pathogenic	151344630	RCV000058869;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	123663370	123663370	NM_001178007.1:c.323C>G	NP_001171478.1:p.Pro108Arg	NC_000004.11:g.123663370C>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_152618.2(BBS12):c.355G>A (p.Gly119Ser)	166379	BBS12	Benign	77731085	RCV000199683;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	123663402	123663402	NM_152618.2:c.355G>A	NP_689831.2:p.Gly119Ser	NC_000004.11:g.123663402G>A	-	C0752166 209900 Bardet-Biedl syndrome
NM_152618.2(BBS12):c.1139C>T (p.Thr380Ile)	166379	BBS12	Uncertain significance	752254471	RCV000168458;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	123664186	123664186	NM_152618.2:c.1139C>T	NP_689831.2:p.Thr380Ile	NC_000004.11:g.123664186C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_152618.2(BBS12):c.1257C>T (p.Ser419=)	166379	BBS12	Uncertain significance	34652786	RCV000204980;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	123664304	123664304	NM_152618.2:c.1257C>T	NP_689831.2:p.Ser419=	NC_000004.11:g.123664304C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_152618.2(BBS12):c.1459A>G (p.Arg487Gly)	166379	BBS12	Uncertain significance	772894742	RCV000196254;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	123664506	123664506	NM_152618.2:c.1459A>G	NP_689831.2:p.Arg487Gly	NC_000004.11:g.123664506A>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_152618.2(BBS12):c.1574G>A (p.Arg525His)	166379	BBS12	Uncertain significance	776730549	RCV000203973;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	123664621	123664621	NM_152618.2:c.1574G>A	NP_689831.2:p.Arg525His	NC_000004.11:g.123664621G>A	-	C0752166 209900 Bardet-Biedl syndrome
NM_031885.3(BBS2):c.1770delT (p.Phe590Leufs)	583	BBS2	Likely pathogenic;Pathogenic	193922711	RCV000190358; RCV000029407;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C2936863,OMIM:615981	16	56531682	56531682	NM_031885.3:c.1770delT	NP_114091.3:p.Phe590Leufs	NC_000016.9:g.56531682delA	-	C0752166 209900 Bardet-Biedl syndrome; C2936863 615981 Bardet-Biedl syndrome 2
NM_031885.3(BBS2):c.1523A>C (p.Gln508Pro)	583	BBS2	Uncertain significance	115328064	RCV000199008;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	16	56533694	56533694	NM_031885.3:c.1523A>C	NP_114091.3:p.Gln508Pro	NC_000016.9:g.56533694T>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_031885.3(BBS2):c.1511C>T (p.Ala504Val)	583	BBS2	Benign	16957538	RCV000203892; RCV000086984;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN221809	16	56533706	56533706	NM_031885.3:c.1511C>T	NP_114091.3:p.Ala504Val	NC_000016.9:g.56533706G>A	-	C0752166 209900 Bardet-Biedl syndrome; CN221809 not provided
NM_031885.3(BBS2):c.1413A>C (p.Val471=)	583	BBS2	Benign	35294865	RCV000205379; RCV000082284;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN169374	16	56533804	56533804	NM_031885.3:c.1413A>C	NP_114091.3:p.Val471=	NC_000016.9:g.56533804T>G	-	C0752166 209900 Bardet-Biedl syndrome; CN169374 not specified
NM_031885.3(BBS2):c.1015C>T (p.Arg339Ter)	583	BBS2	Likely pathogenic	193922710	RCV000029406;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	16	56536294	56536294	NM_031885.3:c.1015C>T	NP_114091.3:p.Arg339Ter	NC_000016.9:g.56536294G>A	-	C0752166 209900 Bardet-Biedl syndrome
NM_031885.3(BBS2):c.612+12C>A	583	BBS2	Benign	77019529	RCV000029408;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	16	56543857	56543857	NM_031885.3:c.612+12C>A		NC_000016.9:g.56543857G>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.-17C>A	585	BBS4	Benign	56368716	RCV000020935;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	72978552	72978552	NM_033028.4:c.-17C>A		NC_000015.9:g.72978552C>A,NC_000015.9:g.72978552C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.-6G>A	585	BBS4	Benign	367543011	RCV000020937;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	72978563	72978563	NM_033028.4:c.-6G>A		NC_000015.9:g.72978563G>A	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.8A>C (p.Glu3Ala)	585	BBS4	Benign	113994183	RCV000020946;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	72978576	72978576	NM_033028.4:c.8A>C	NP_149017.2:p.Glu3Ala	NC_000015.9:g.72978576A>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.17T>C (p.Val6Ala)	585	BBS4	Benign	113994185	RCV000020940;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	72978585	72978585	NM_033028.4:c.17T>C	NP_149017.2:p.Val6Ala	NC_000015.9:g.72978585T>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.18C>T (p.Val6=)	585	BBS4	Benign	113994187	RCV000020941;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	72978586	72978586	NM_033028.4:c.18C>T	NP_149017.2:p.Val6=	NC_000015.9:g.72978586C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.20C>T (p.Ala7Val)	585	BBS4	Benign	113994186	RCV000020942;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	72978588	72978588	NM_033028.4:c.20C>T	NP_149017.2:p.Ala7Val	NC_000015.9:g.72978588C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.28dupA (p.Thr10Asnfs)	585	BBS4	Benign	113994184	RCV000020943;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	72987521	72987521	NM_033028.4:c.28dupA	NP_149017.2:p.Thr10Asnfs	NC_000015.9:g.72987521dupA	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.42A>G (p.Val14=)	585	BBS4	Benign	113994181	RCV000020944;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	72987535	72987535	NM_033028.4:c.42A>G	NP_149017.2:p.Val14=	NC_000015.9:g.72987535A>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.77-220delA	585	BBS4	Pathogenic	113994189	RCV000009717; RCV000020945;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C2936864,OMIM:615982	15	73001821	73001821	NM_033028.4:c.77-220delA		NC_000015.9:g.73001821delA	OMIM Allelic Variant:600374.0002	C0752166 209900 Bardet-Biedl syndrome; C2936864 615982 Bardet-Biedl syndrome 4
NM_033028.4(BBS4):c.91A>G (p.Ile31Val)	585	BBS4	Benign	113994182	RCV000020947;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	73002055	73002055	NM_033028.4:c.91A>G	NP_149017.2:p.Ile31Val	NC_000015.9:g.73002055A>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.157-2A>G	585	BBS4	Pathogenic	113994192	RCV000009718; RCV000020932;	Y	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C2936864,OMIM:615982	15	73004583	73004583	NM_033028.4:c.157-2A>G		NC_000015.9:g.73004583A>G	OMIM Allelic Variant:600374.0003	C0752166 209900 Bardet-Biedl syndrome; C2936864 615982 Bardet-Biedl syndrome 4
NM_033028.4(BBS4):c.220+1G>C	585	BBS4	Pathogenic	113994190	RCV000020933;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	73004649	73004649	NM_033028.4:c.220+1G>C		NC_000015.9:g.73004649G>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.406-2A>C	585	BBS4	Pathogenic	113994191	RCV000020934;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	73015133	73015133	NM_033028.4:c.406-2A>C		NC_000015.9:g.73015133A>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.864+10C>T	585	BBS4	Likely benign	201979024	RCV000199521;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	73023808	73023808	NM_033028.4:c.864+10C>T		NC_000015.9:g.73023808C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.1061T>C (p.Ile354Thr)	585	BBS4	Benign;Likely benign	2277598	RCV000020938; RCV000132688; RCV000152842;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN169374; MedGen:CN221809	15	73027478	73027478	NM_033028.4:c.1061T>C	NP_149017.2:p.Ile354Thr	NC_000015.9:g.73027478T>C	-	C0752166 209900 Bardet-Biedl syndrome; CN221809 not provided; CN169374 not specified
NM_033028.4(BBS4):c.1414A>G (p.Met472Val)	585	BBS4	Likely benign	2277596	RCV000198615; RCV000132689;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN221809	15	73029268	73029268	NM_033028.4:c.1414A>G	NP_149017.2:p.Met472Val	NC_000015.9:g.73029268A>G	-	C0752166 209900 Bardet-Biedl syndrome; CN221809 not provided
NM_033028.4(BBS4):c.1451-45T>C	585	BBS4	Benign	75847960	RCV000020936;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	73029774	73029774	NM_033028.4:c.1451-45T>C		NC_000015.9:g.73029774T>C	GeneReviews:NBK1363	C0752166 209900 Bardet-Biedl syndrome
NM_033028.4(BBS4):c.*1G>C	585	BBS4	Benign	113678046	RCV000020939;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	15	73029929	73029929	NM_033028.4:c.*1G>C		NC_000015.9:g.73029929G>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_152384.2(BBS5):c.413G>A (p.Arg138His)	129880	BBS5	Pathogenic	179363897	RCV000058870;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	2	170349410	170349410	NM_152384.2:c.413G>A	NP_689597.1:p.Arg138His	NC_000002.11:g.170349410G>A	-	C0752166 209900 Bardet-Biedl syndrome
NM_152384.2(BBS5):c.551A>G (p.Asn184Ser)	129880	BBS5	Likely benign;Uncertain significance	137853921	RCV000199778; RCV000087001; RCV000152843;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN169374; MedGen:CN221809	2	170350279	170350279	NM_152384.2:c.551A>G	NP_689597.1:p.Asn184Ser	NC_000002.11:g.170350279A>G	HGMD:CM044580	C0752166 209900 Bardet-Biedl syndrome; CN221809 not provided; CN169374 not specified
NM_176824.2(BBS7):c.2063A>G (p.Asn688Ser)	55212	BBS7	Uncertain significance	370656021	RCV000168181; RCV000175491;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN221809	4	122747100	122747100	NM_176824.2:c.2063A>G	NP_789794.1:p.Asn688Ser	NC_000004.11:g.122747100T>C	-	C0752166 209900 Bardet-Biedl syndrome; CN221809 not provided
NM_176824.2(BBS7):c.1986_1988delGCAinsT (p.Lys662Asnfs)	55212	BBS7	Pathogenic	863224529	RCV000198339;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	122749327	122749329	NM_176824.2:c.1986_1988delGCAinsT	NP_789794.1:p.Lys662Asnfs	NC_000004.11:g.122749327_122749329delTGCinsA	-	C0752166 209900 Bardet-Biedl syndrome
NM_176824.2(BBS7):c.976A>G (p.Ser326Gly)	55212	BBS7	Uncertain significance	863224815	RCV000198157;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	122768620	122768620	NM_176824.2:c.976A>G	NP_789794.1:p.Ser326Gly	NC_000004.11:g.122768620T>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_176824.2(BBS7):c.632C>T (p.Thr211Ile)	55212	BBS7	Pathogenic	119466002	RCV000003152;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	122775945	122775945	NM_176824.2:c.632C>T	NP_789794.1:p.Thr211Ile	NC_000004.11:g.122775945G>A	OMIM Allelic Variant:607590.0002	C0752166 209900 Bardet-Biedl syndrome
NM_176824.2(BBS7):c.454T>C (p.Cys152Arg)	55212	BBS7	Uncertain significance	863224814	RCV000196306;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	122780221	122780221	NM_176824.2:c.454T>C	NP_789794.1:p.Cys152Arg	NC_000004.11:g.122780221A>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_176824.2(BBS7):c.389_390delAC (p.Asn130Thrfs)	55212	BBS7	Pathogenic	863224530	RCV000200204;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	4	122780285	122780286	NM_176824.2:c.389_390delAC	NP_789794.1:p.Asn130Thrfs	NC_000004.11:g.122780285_122780286delGT	-	C0752166 209900 Bardet-Biedl syndrome
NM_198428.2(BBS9):c.(?_-1)_328+?del	27241	BBS9	Pathogenic	-1	RCV000197573;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	7	33185864	33195314	NM_198428.2:c.(?_-1)_328+?del			-	C0752166 209900 Bardet-Biedl syndrome
NM_198428.2(BBS9):c.887-7C>T	27241	BBS9	Likely benign	376333670	RCV000197969;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	7	33313432	33313432	NM_198428.2:c.887-7C>T		NC_000007.13:g.33313432C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_198428.2(BBS9):c.1246G>A (p.Val416Met)	27241	BBS9	Benign	61764067	RCV000205415; RCV000082809;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN169374	7	33380556	33380556	NM_198428.2:c.1246G>A	NP_940820.1:p.Val416Met	NC_000007.13:g.33380556G>A	-	C0752166 209900 Bardet-Biedl syndrome; CN169374 not specified
NM_198428.2(BBS9):c.1280C>T (p.Ala427Val)	27241	BBS9	Benign	138072724	RCV000204910; RCV000174426;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN169374	7	33384197	33384197	NM_198428.2:c.1280C>T	NP_940820.1:p.Ala427Val	NC_000007.13:g.33384197C>T	-	C0752166 209900 Bardet-Biedl syndrome; CN169374 not specified
NM_198428.2(BBS9):c.1370T>A (p.Leu457Ter)	27241	BBS9	Pathogenic	762511626	RCV000199446;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	7	33388720	33388720	NM_198428.2:c.1370T>A	NP_940820.1:p.Leu457Ter	NC_000007.13:g.33388720T>A	-	C0752166 209900 Bardet-Biedl syndrome
NM_198428.2(BBS9):c.1423G>T (p.Glu475Ter)	27241	BBS9	Pathogenic	863224534	RCV000195839;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	7	33388773	33388773	NM_198428.2:c.1423G>T	NP_940820.1:p.Glu475Ter	NC_000007.13:g.33388773G>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_198428.2(BBS9):c.1486A>G (p.Thr496Ala)	27241	BBS9	Uncertain significance	369146555	RCV000199717;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	7	33390884	33390884	NM_198428.2:c.1486A>G	NP_940820.1:p.Thr496Ala	NC_000007.13:g.33390884A>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_198428.2(BBS9):c.1487C>T (p.Thr496Ile)	27241	BBS9	Uncertain significance	139303948	RCV000204506;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	7	33390885	33390885	NM_198428.2:c.1487C>T	NP_940820.1:p.Thr496Ile	NC_000007.13:g.33390885C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_198428.2(BBS9):c.1767T>C (p.Thr589=)	27241	BBS9	Likely benign	534722075	RCV000199011;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	7	33407452	33407452	NM_198428.2:c.1767T>C	NP_940820.1:p.Thr589=	NC_000007.13:g.33407452T>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_198428.2(BBS9):c.2309A>G (p.Glu770Gly)	27241	BBS9	Uncertain significance	149668719	RCV000196183;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	7	33573576	33573576	NM_198428.2:c.2309A>G	NP_940820.1:p.Glu770Gly	NC_000007.13:g.33573576A>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_198428.2(BBS9):c.2646C>A (p.Leu882=)	27241	BBS9	Likely benign	61753527	RCV000195790;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	7	33644820	33644820	NM_198428.2:c.2646C>A	NP_940820.1:p.Leu882=	NC_000007.13:g.33644820C>A	-	C0752166 209900 Bardet-Biedl syndrome
NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter)	80184	CEP290	Likely pathogenic	797044604	RCV000192446;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C1857779,OMIM:610189; MedGen:C1857780,OMIM:610188; MedGen:C1857821,OMIM:611755; MedGen:C1970161,OMIM:611134	12	88480227	88480227	NM_025114.3:c.4243G>T	NP_079390.3:p.Glu1415Ter	NC_000012.11:g.88480227C>A	-	C0752166 209900 Bardet-Biedl syndrome; C1857780 610188 Joubert syndrome 5; C1857821 611755 Leber congenital amaurosis 10; C1970161 611134 Meckel syndrome type 4; C1857779 610189 Senior-Loken syndrome 6
NM_020347.3(LZTFL1):c.778G>T (p.Glu260Ter)	54585	LZTFL1	Pathogenic	515726136	RCV000114320; RCV000133553;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN220306,OMIM:615994	3	45868951	45868951	NM_020347.3:c.778G>T	NP_065080.1:p.Glu260Ter	3:g.45868951C>A	OMIM Allelic Variant:606568.0003	C0752166 209900 Bardet-Biedl syndrome; CN220306 615994 Bardet-Biedl syndrome 17
NM_020347.3(LZTFL1):c.260T>C (p.Leu87Pro)	54585	LZTFL1	Pathogenic	515726135	RCV000114319; RCV000133552;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN220306,OMIM:615994	3	45877145	45877145	NM_020347.3:c.260T>C	NP_065080.1:p.Leu87Pro	3:g.45877145A>G	OMIM Allelic Variant:606568.0002	C0752166 209900 Bardet-Biedl syndrome; CN220306 615994 Bardet-Biedl syndrome 17
NM_018848.3(MKKS):c.1553G>A (p.Arg518His)	8195	MKKS	Likely benign	149051148	RCV000198569;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C0948368,OMIM:236700,ORPHA:2473	20	10386055	10386055	NM_018848.3:c.1553G>A	NP_061336.1:p.Arg518His	NC_000020.10:g.10386055C>T	-	C0752166 209900 Bardet-Biedl syndrome; C0948368 236700 McKusick Kaufman syndrome
NM_170784.2(MKKS):c.876_877insCCTG (p.Cys293Profs)	8195	MKKS	Pathogenic	113994196	RCV000020862;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	20	10393286	10393287	NM_170784.2:c.876_877insCCTG	NP_740754.1:p.Cys293Profs	NC_000020.10:g.10393286_10393287insCAGG	-	C0752166 209900 Bardet-Biedl syndrome
NM_170784.2(MKKS):c.534C>T (p.Ile178=)	8195	MKKS	Benign;Likely benign	17852625	RCV000020861; RCV000132694; RCV000177309;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN169374; MedGen:CN221809	20	10393629	10393629	NM_170784.2:c.534C>T	NP_740754.1:p.Ile178=	NC_000020.10:g.10393629G>A	-	C0752166 209900 Bardet-Biedl syndrome; CN221809 not provided; CN169374 not specified
NM_170784.2(MKKS):c.431_441delTTAGTAGTACT (p.Phe144Serfs)	8195	MKKS	Pathogenic	113994195	RCV000020860;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	20	10393722	10393732	NM_170784.2:c.431_441delTTAGTAGTACT	NP_740754.1:p.Phe144Serfs	NC_000020.10:g.10393722_10393732delAGTACTACTAA	-	C0752166 209900 Bardet-Biedl syndrome
NM_018848.3(MKKS):c.425T>C (p.Val142Ala)	8195	MKKS	Uncertain significance	863224773	RCV000196621;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C0948368,OMIM:236700,ORPHA:2473	20	10393738	10393738	NM_018848.3:c.425T>C	NP_061336.1:p.Val142Ala	NC_000020.10:g.10393738A>G	-	C0752166 209900 Bardet-Biedl syndrome; C0948368 236700 McKusick Kaufman syndrome
NM_170784.2(MKKS):c.117C>T (p.Pro39=)	8195	MKKS	Benign;Likely benign	16991547	RCV000020859; RCV000132693; RCV000177308;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN169374; MedGen:CN221809	20	10394046	10394046	NM_170784.2:c.117C>T	NP_740754.1:p.Pro39=	NC_000020.10:g.10394046G>A	-	C0752166 209900 Bardet-Biedl syndrome; CN221809 not provided; CN169374 not specified
NM_170784.2(MKKS):c.-74G>A	8195	MKKS	Benign	113994194	RCV000020858;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	20	10394236	10394236	NM_170784.2:c.-74G>A		NC_000020.10:g.10394236C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_170784.2(MKKS):c.-674_-673insTGGCGGCCTG	8195	MKKS	Benign	16996729	RCV000020857;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	20	10414780	10414781	NM_170784.2:c.-674_-673insTGGCGGCCTG		NC_000020.10:g.10414780_10414781insCAGGCCGCCA	-	C0752166 209900 Bardet-Biedl syndrome
NM_198309.3(TTC8):c.440G>C (p.Arg147Thr)	123016	TTC8	Uncertain significance	754686957	RCV000198528;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	14	89307521	89307521	NM_198309.3:c.440G>C	NP_938051.1:p.Arg147Thr	NC_000014.8:g.89307521G>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_198309.3(TTC8):c.454G>C (p.Gly152Arg)	123016	TTC8	Uncertain significance	753150258	RCV000167991;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	14	89307535	89307535	NM_198309.3:c.454G>C	NP_938051.1:p.Gly152Arg	NC_000014.8:g.89307535G>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_198309.3(TTC8):c.459G>A (p.Thr153=)	123016	TTC8	Pathogenic;Uncertain significance	119103286	RCV000002639; RCV000203928;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:C1859566,OMIM:615985	14	89307540	89307540	NM_198309.3:c.459G>A	NP_938051.1:p.Thr153=		OMIM Allelic Variant:608132.0003	C0752166 209900 Bardet-Biedl syndrome; C1859566 615985 Bardet-Biedl syndrome 8
NM_198310.3(TTC8):c.505-5C>T	123016	TTC8	Benign	137853922	RCV000204836; RCV000087004;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004; MedGen:CN221809	14	89319310	89319310	NM_198310.3:c.505-5C>T		NC_000014.8:g.89319310C>T	-	C0752166 209900 Bardet-Biedl syndrome; CN221809 not provided
NM_198309.3(TTC8):c.612C>G (p.Ala204=)	123016	TTC8	Likely benign	141305911	RCV000197427;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	14	89319332	89319332	NM_198309.3:c.612C>G	NP_938051.1:p.Ala204=	NC_000014.8:g.89319332C>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_198309.3(TTC8):c.1047C>T (p.Asn349=)	123016	TTC8	Likely benign	150896551	RCV000200657;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	14	89337920	89337920	NM_198309.3:c.1047C>T	NP_938051.1:p.Asn349=	NC_000014.8:g.89337920C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_198309.3(TTC8):c.1434G>C (p.Ala478=)	123016	TTC8	Benign	142073418	RCV000195887;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	14	89343670	89343670	NM_198309.3:c.1434G>C	NP_938051.1:p.Ala478=	NC_000014.8:g.89343670G>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_015910.5(WDPCP):c.2063A>G (p.Asn688Ser)	51057	WDPCP	Benign	61734468	RCV000204564;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	2	63401820	63401820	NM_015910.5:c.2063A>G	NP_056994.3:p.Asn688Ser	NC_000002.11:g.63401820T>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_015910.5(WDPCP):c.1729T>G (p.Phe577Val)	51057	WDPCP	Uncertain significance	141845729	RCV000195475;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	2	63605540	63605540	NM_015910.5:c.1729T>G	NP_056994.3:p.Phe577Val	NC_000002.11:g.63605540A>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_015910.5(WDPCP):c.1315G>A (p.Val439Ile)	51057	WDPCP	Likely benign	199676595	RCV000168404;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	2	63631303	63631303	NM_015910.5:c.1315G>A	NP_056994.3:p.Val439Ile	NC_000002.11:g.63631303C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_015910.5(WDPCP):c.985G>A (p.Val329Met)	51057	WDPCP	Likely benign	199959383	RCV000199301;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	2	63631633	63631633	NM_015910.5:c.985G>A	NP_056994.3:p.Val329Met	NC_000002.11:g.63631633C>T	-	C0752166 209900 Bardet-Biedl syndrome
NM_015910.5(WDPCP):c.955T>G (p.Tyr319Asp)	51057	WDPCP	Uncertain significance	863224771	RCV000198017;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	2	63631663	63631663	NM_015910.5:c.955T>G	NP_056994.3:p.Tyr319Asp	NC_000002.11:g.63631663A>C	-	C0752166 209900 Bardet-Biedl syndrome
NM_015910.5(WDPCP):c.831G>C (p.Leu277=)	51057	WDPCP	Likely benign	863224423	RCV000197088;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	2	63631787	63631787	NM_015910.5:c.831G>C	NP_056994.3:p.Leu277=	NC_000002.11:g.63631787C>G	-	C0752166 209900 Bardet-Biedl syndrome
NM_015910.5(WDPCP):c.176T>A (p.Ile59Asn)	51057	WDPCP	Uncertain significance	202196322	RCV000206601;	N	MedGen:C0752166,OMIM:209900,ORPHA:110,SNOMED CT:5619004	2	63714613	63714613	NM_015910.5:c.176T>A	NP_056994.3:p.Ile59Asn	NC_000002.11:g.63714613A>T	-	C0752166 209900 Bardet-Biedl syndrome