ClinVar for MedGen (Select 156019) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248264	NC_000020.10:g.(?_10385895)_(10394162_?)del	MKKS	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 3247208	NC_000002.11:g.(?_170343559)_(170350366_?)dup	BBS5	Duplication	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3247207	NC_000002.11:g.(?_170336064)_(170361092_?)dup	BBS5	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 3247206	NC_000002.11:g.(?_170338741)_(170343664_?)del	BBS5	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246654	NC_000004.11:g.(?_122765575)_(122770074_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246653	NC_000004.11:g.(?_122749645)_(122750373_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3246652	NC_000004.11:g.(?_122760766)_(122770103_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246650	NC_000004.11:g.(?_122774091)_(122775995_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246649	NC_000004.11:g.(?_122747015)_(122749903_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246648	NC_000004.11:g.(?_122749281)_(122756458_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246647	NC_000004.11:g.(?_122789116)_(122791468_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246646	NC_000004.11:g.(?_122766639)_(122872835_?)del	BBS7, TRPC3	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246645	NC_000004.11:g.(?_122766639)_(122766871_?)del	BBS7	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3246644	NC_000004.11:g.(?_123663048)_(123665180_?)del	BBS12	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245740	NC_000007.13:g.(?_33185923)_(33193039_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3245739	NC_000007.13:g.(?_33388660)_(33397627_?)dup	BBS9	Duplication	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3245738	NC_000007.13:g.(?_33296828)_(33297042_?)dup	BBS9	Duplication	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3245737	NC_000007.13:g.(?_33423258)_(33427776_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245736	NC_000007.13:g.(?_33384173)_(33390955_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245735	NC_000007.13:g.(?_33376033)_(33388802_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245733	NC_000007.13:g.(?_33296828)_(33297042_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245732	NC_000007.13:g.(?_33185865)_(33185996_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245731	NC_000007.13:g.(?_33185865)_(33644838_?)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3245165	NC_000009.11:g.(?_119461485)_(119475606_?)del	ASTN2, TRIM32	Deletion	Bardet-Biedl syndrome	GUncertain significance
Select item 3245164	NC_000009.11:g.(?_119460022)_(119495822_?)del	ASTN2, TRIM32	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3244597	NC_000011.9:g.(?_66297270)_(66299508_?)del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3244595	NC_000011.9:g.(?_66293574)_(66294298_?)del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3244594	NC_000011.9:g.(?_66290907)_(66299508_?)del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3244593	NC_000011.9:g.(?_66278131)_(66291682_?)del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3244279	NC_000012.11:g.(?_76739593)_(76742138_?)del	BBS10	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3243967	NC_000014.8:g.(?_89291052)_(89291185_?)del	TTC8	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3243966	NC_000014.8:g.(?_89343618)_(89343754_?)del	TTC8	Deletion	Bardet-Biedl syndrome	GUncertain significance
Select item 3243773	NC_000015.9:g.(?_73020261)_(73020355_?)dup	BBS4	Duplication	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3243772	NC_000015.9:g.(?_73004565)_(73022045_?)del	BBS4	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3243771	NC_000015.9:g.(?_72991823)_(73029818_?)del	BBS4	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3243769	NC_000015.9:g.(?_72978569)_(73022045_?)del	BBS4	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3243768	NC_000015.9:g.(?_73020261)_(73020355_?)del	BBS4	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3243767	NC_000015.9:g.(?_73002021)_(73002140_?)del	BBS4	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3243766	NC_000015.9:g.(?_72987498)_(72987589_?)del	BBS4	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3243765	NC_000015.9:g.(?_72978569)_(72978612_?)del	BBS4	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3243397	NC_000016.9:g.(?_56530859)_(56536740_?)dup	BBS2	Duplication	Bardet-Biedl syndrome	GLikely pathogenic
Select item 3243396	NC_000016.9:g.(?_56535245)_(56536740_?)del	BBS2	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3063865	NC_000007.13:g.(33192464_33195249)_(33195315_33217089)del	BBS9	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3023492	NM_152384.3(BBS5):c.444del (p.Asn149fs)	BBS5 (N149fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3023346	NM_144596.4(TTC8):c.1224+15T>G	TTC8	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3022733	NM_198428.3(BBS9):c.1553-20A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3022723	NM_012210.4(TRIM32):c.1491A>G (p.Thr497=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3021921	NM_031885.5(BBS2):c.2059+19_2059+20insT	BBS2	Insertion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3021634	NM_024685.4(BBS10):c.1005A>G (p.Ser335=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3021519	NM_152618.3(BBS12):c.1467A>C (p.Ala489=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3021299	NM_144596.4(TTC8):c.729A>G (p.Glu243=)	TTC8	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3020466	NM_012210.4(TRIM32):c.663A>C (p.Val221=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3020049	NM_176824.3(BBS7):c.33G>A (p.Leu11=)	BBS7, LOC129993036	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3019932	NM_198428.3(BBS9):c.829del (p.Ile277fs)	BBS9 (I232fs +3 more)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 3019841	NM_152384.3(BBS5):c.171T>C (p.Ile57=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3019781	NM_031885.5(BBS2):c.1014C>T (p.Ile338=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3019767	NM_152384.3(BBS5):c.386+10T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3019508	NM_033028.5(BBS4):c.1224T>C (p.Asn408=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 3019196	NM_152618.3(BBS12):c.1756del (p.Thr586fs)	BBS12 (T586fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3019179	NM_198428.3(BBS9):c.1833C>T (p.Leu611=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3018693	NM_152384.3(BBS5):c.681+10T>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3018534	NM_024649.5(BBS1):c.780G>A (p.Glu260=)	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3018396	NM_198428.3(BBS9):c.2391C>T (p.Ser797=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3018395	NM_176824.3(BBS7):c.849+9A>G	BBS7	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3018174	NM_198428.3(BBS9):c.1538-13C>T	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3018125	NM_198428.3(BBS9):c.2299-4C>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3017954	NM_176824.3(BBS7):c.688T>C (p.Trp230Arg)	BBS7 (W230R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3017874	NM_012210.4(TRIM32):c.1218A>G (p.Glu406=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3017572	NM_198428.3(BBS9):c.1330-18_1330-16del	BBS9	Deletion (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3017356	NM_033028.5(BBS4):c.1191G>A (p.Glu397=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3017279	NC_000011.10:g.66515694del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3017225	NM_024649.5(BBS1):c.588G>A (p.Arg196=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3017140	NM_012210.4(TRIM32):c.1499G>A (p.Arg500Gln)	ASTN2, TRIM32 (R500Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 3017079	NM_176824.3(BBS7):c.1822C>T (p.Leu608=)	BBS7	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3016965	NM_198428.3(BBS9):c.381T>C (p.Tyr127=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3016889	NM_152618.3(BBS12):c.294A>G (p.Ala98=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3016868	NM_031885.5(BBS2):c.1080+9A>G	BBS2	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3016252	NM_198428.3(BBS9):c.1125A>G (p.Glu375=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3016093	NM_024685.4(BBS10):c.171G>C (p.Ala57=)	BBS10	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3015827	NM_024685.4(BBS10):c.725_737del (p.Gln242fs)	BBS10 (Q242fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3015678	NM_198428.3(BBS9):c.112+18A>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3015365	NM_024685.4(BBS10):c.1399del (p.Arg467fs)	BBS10 (R467fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 3015356	NM_033028.5(BBS4):c.76+16C>T	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3015290	NM_024649.5(BBS1):c.48-9C>G	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3015256	NM_031885.5(BBS2):c.1758T>C (p.Phe586=)	BBS2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3015153	NM_024649.5(BBS1):c.831-19T>C	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3015111	NM_015910.7(WDPCP):c.1436-14A>G	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3014382	NM_152384.3(BBS5):c.1A>T (p.Met1Leu)	BBS5, LOC129935068 (M1L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 3014191	NM_198428.3(BBS9):c.705G>A (p.Val235=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3013944	NM_031885.5(BBS2):c.472-13del	BBS2	Deletion (intron variant)	Bardet-Biedl syndrome	GBenign
Select item 3013679	NM_198428.3(BBS9):c.1433-12C>A	BBS9	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3013615	NM_198428.3(BBS9):c.1608A>G (p.Leu536=)	BBS9	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3013555	NM_033028.5(BBS4):c.864+7G>A	BBS4	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3013492	NM_198428.3(BBS9):c.144C>T (p.Tyr48=)	BBS9	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3012888	NM_015910.7(WDPCP):c.1435+18A>T	WDPCP	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3012768	NM_198428.3(BBS9):c.663G>A (p.Glu221=)	BBS9	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3012682	NM_033028.5(BBS4):c.1101G>T (p.Leu367=)	BBS4	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 3012677	NM_024649.5(BBS1):c.1110+14C>G	ZDHHC24, BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3012610	NM_152384.3(BBS5):c.816+15A>T	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign
Select item 3012472	NM_198428.3(BBS9):c.2521+19C>G	BBS9	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GLikely benign

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