C0752166[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48581	NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)	USH2A (S2445F)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 551815	NM_152618.3(BBS12):c.1A>C (p.Met1Leu)	BBS12 (M1L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 556158	NM_152618.3(BBS12):c.2T>C (p.Met1Thr)	BBS12 (M1T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 444639	NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del)	BBS12 (R12del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 558579	NM_152618.3(BBS12):c.49dup (p.Gln17fs)	BBS12 (Q17fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 554330	NM_152618.3(BBS12):c.265_266del (p.Leu89fs)	BBS12 (L89fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 555873	NM_152618.3(BBS12):c.270del (p.Val92fs)	BBS12 (V92fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 558479	NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del)	BBS12 (E101del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 555890	NM_152618.3(BBS12):c.424dup (p.Asp142fs)	BBS12 (D142fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 555505	NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)	BBS12 (P159L)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 558497	NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)	BBS12 (R214*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 557758	NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)	BBS12 (Q228fs)	Insertion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 550788	NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)	BBS12 (Q228*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 555983	NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)	BBS12 (E254*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +2 more	GPathogenic/Likely pathogenic
Select item 550824	NM_152618.3(BBS12):c.787T>C (p.Tyr263His)	BBS12 (Y263H)	Single nucleotide variant (missense variant)	BBS12-related disorder +2 more	GUncertain significance
Select item 551644	NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)	BBS12 (E288del)	Microsatellite (inframe_deletion)	Retinal dystrophy +3 more	GUncertain significance
Select item 558010	NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)	BBS12 (V337fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 1147	NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	BBS12 (R355*)	Single nucleotide variant (nonsense)	Abnormal cardiovascular system morphology +5 more	GPathogenic
Select item 371339	NM_152618.3(BBS12):c.1082del (p.Gly361fs)	BBS12 (G361fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 347497	NM_152618.3(BBS12):c.1092del (p.Glu365fs)	BBS12 (E365fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +2 more	GPathogenic/Likely pathogenic
Select item 188395	NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)	BBS12 (T380I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +3 more	GUncertain significance
Select item 550386	NM_152618.3(BBS12):c.1151del (p.Ser384fs)	BBS12 (S384fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 281597	NM_152618.3(BBS12):c.1198G>A (p.Val400Met)	BBS12 (V400M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +4 more	GUncertain significance
Select item 347502	NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)	BBS12 (C426Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GConflicting classifications of pathogenicity
Select item 553411	NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)	BBS12 (K430fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 555788	NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)	BBS12 (Q443fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 554604	NM_152618.3(BBS12):c.1372dup (p.Thr458fs)	BBS12 (T458fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 531820	NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)	BBS12 (Q459*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 216822	NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly)	BBS12 (R487G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +3 more	GUncertain significance
Select item 553346	NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys)	BBS12 (Y524C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 220303	NM_152618.3(BBS12):c.1574G>A (p.Arg525His)	BBS12 (R525H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 550609	NM_152618.3(BBS12):c.1619G>T (p.Gly540Val)	BBS12 (G540V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 552099	NM_152618.3(BBS12):c.1681_1683del (p.Glu561del)	BBS12 (E561del)	Deletion (inframe_deletion)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 552661	NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)	BBS12 (S645del)	Microsatellite (inframe_deletion)	BBS12-related disorder +2 more	GUncertain significance
Select item 553671	NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)	BBS12 (S650*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 552893	NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer)	BBS12	Deletion (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 281596	NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)	BBS12 (R674C)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 347505	NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	BBS12 (R675*)	Single nucleotide variant (nonsense)	BBS12-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 554279	NM_024649.5(BBS1):c.1A>T (p.Met1Leu)	BBS1 (M1L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 412283	NM_024649.5(BBS1):c.17dup (p.Ser7fs)	BBS1 (S7fs)	Duplication (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 371141	NM_024649.5(BBS1):c.48-2A>C	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 551439	NM_024649.5(BBS1):c.48-1G>T	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 370386	NM_024649.5(BBS1):c.124+1G>C	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556015	NM_024649.5(BBS1):c.158dup (p.Leu54fs)	BBS1 (L54fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 370389	NM_024649.5(BBS1):c.223_224del (p.Leu75fs)	BBS1 (L75fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 555614	NM_024649.5(BBS1):c.345dup (p.Lys116Ter)	BBS1 (K116*)	Duplication (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 12145	NM_024649.5(BBS1):c.432+1G>A	BBS1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 305459	NM_024649.5(BBS1):c.432+13C>T	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 188752	NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	BBS1 (R146*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 370228	NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	BBS1 (R160Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 551379	NM_024649.5(BBS1):c.479+2T>G	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GLikely pathogenic
Select item 554929	NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)	BBS1 (G222R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 552356	NM_024649.5(BBS1):c.724-1G>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 371517	NM_024649.5(BBS1):c.831-2A>G	BBS1, ZDHHC24	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 370358	NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)	BBS1, ZDHHC24 (C285*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 371274	NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)	BBS1, ZDHHC24 (Q291*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +2 more	GPathogenic
Select item 370919	NM_024649.5(BBS1):c.951+1G>A	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 370653	NM_024649.5(BBS1):c.952-1G>A	ZDHHC24, BBS1	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GLikely pathogenic
Select item 370281	NM_024649.5(BBS1):c.981del (p.Ala328fs)	BBS1, ZDHHC24 (A328fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 370496	NM_024649.5(BBS1):c.1072del (p.Tyr358fs)	BBS1, ZDHHC24 (Y358fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 553357	NM_024649.5(BBS1):c.1110G>A (p.Pro370=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 189103	NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)	ZDHHC24, BBS1 (C377fs)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 216740	NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)	BBS1, ZDHHC24 (R380Q)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 412287	NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)	ZDHHC24, BBS1 (E414*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 188983	NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)	BBS1, ZDHHC24 (R429*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 551887	NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)	BBS1, ZDHHC24 (R440*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 553542	NM_024649.5(BBS1):c.1340-1G>T	BBS1, ZDHHC24	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 371133	NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)	BBS1, ZDHHC24 (L505fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GPathogenic
Select item 225300	NM_024649.5(BBS1):c.1535G>A (p.Arg512His)	BBS1, ZDHHC24 (R512H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 554520	NM_024649.5(BBS1):c.1642del (p.Leu548fs)	BBS1, ZDHHC24 (L548fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 371262	NM_024649.5(BBS1):c.1643dup (p.Glu549fs)	BBS1, ZDHHC24 (E549fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 12144	NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)	BBS1, ZDHHC24 (E549*)	Single nucleotide variant (nonsense +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 556969	NM_024649.5(BBS1):c.1695G>A (p.Lys565=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 406221	NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	BBS10	Deletion (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 550617	NM_024685.4(BBS10):c.2065A>C (p.Thr689Pro)	BBS10 (T689P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GUncertain significance
Select item 423236	NM_024685.4(BBS10):c.2030del (p.Gly677fs)	BBS10 (G677fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 370612	NM_024685.4(BBS10):c.1959del (p.Pro655fs)	BBS10 (P655fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 550352	NM_024685.4(BBS10):c.1949del (p.Gly650fs)	BBS10 (G650fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GConflicting classifications of pathogenicity
Select item 195379	NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)	BBS10 (Y613C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 370772	NM_024685.4(BBS10):c.1724del (p.Pro575fs)	BBS10 (P575fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 496471	NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)	BBS10	Deletion (nonsense)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 371499	NM_024685.4(BBS10):c.1677C>G (p.Tyr559Ter)	BBS10 (Y559*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 188992	NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)	BBS10 (T534fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +2 more	GPathogenic/Likely pathogenic
Select item 371134	NM_024685.4(BBS10):c.1542del (p.Asp515fs)	BBS10 (D515fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 288255	NM_024685.4(BBS10):c.1510_1511del (p.Ile504fs)	BBS10 (I504fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10 +2 more	GPathogenic
Select item 189107	NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs)	BBS10 (T483fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 556979	NM_024685.4(BBS10):c.1447dup (p.Thr483fs)	BBS10 (T483fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 370512	NM_024685.4(BBS10):c.1391C>G (p.Ser464Ter)	BBS10 (S464*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 166722	NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)	BBS10 (R422W)	Single nucleotide variant (missense variant)	BBS10-related disorder +3 more	GUncertain significance
Select item 371290	NM_024685.4(BBS10):c.1236_1248del (p.Asp412fs)	BBS10 (D412fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 558108	NM_024685.4(BBS10):c.1244del (p.His415fs)	BBS10 (H415fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic
Select item 188943	NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)	BBS10 (L414S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GPathogenic/Likely pathogenic
Select item 553858	NM_024685.4(BBS10):c.1187_1188del (p.Ser396fs)	BBS10 (S396fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 188941	NM_024685.4(BBS10):c.1184dup (p.His395fs)	BBS10 (H395fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 216764	NM_024685.4(BBS10):c.1144G>T (p.Val382Phe)	BBS10 (V382F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GUncertain significance
Select item 556154	NM_024685.4(BBS10):c.1122dup (p.Ile375fs)	BBS10 (I375fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 166723	NM_024685.4(BBS10):c.1091del (p.Asn364fs)	BBS10 (N364fs)	Deletion	not provided +3 more	GPathogenic/Likely pathogenic
Select item 550777	NM_024685.4(BBS10):c.1064del (p.Gln355fs)	BBS10 (Q355fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 266102	NM_024685.4(BBS10):c.959_962del (p.Ser320fs)	BBS10 (S320fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 432013	NM_024685.4(BBS10):c.909_912del (p.Ser303fs)	BBS10 (S303fs)	Deletion (frameshift variant)	BBS10-related disorder +3 more	GPathogenic

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