C1859570[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 462963	NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)	BBS12 (S35*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +2 more	GPathogenic/Likely pathogenic
Select item 1075926	NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)	BBS12 (E58*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 554330	NM_152618.3(BBS12):c.265_266del (p.Leu89fs)	BBS12 (L89fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +2 more	GPathogenic/Likely pathogenic
Select item 555873	NM_152618.3(BBS12):c.270del (p.Val92fs)	BBS12 (V92fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 555890	NM_152618.3(BBS12):c.424dup (p.Asp142fs)	BBS12 (D142fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 1069707	NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)	BBS12 (Q149*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 555505	NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)	BBS12 (P159L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2680000	NM_152618.3(BBS12):c.494C>G (p.Ser165Ter)	BBS12 (S165*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 556835	NM_152618.3(BBS12):c.568dup (p.Ser190fs)	BBS12 (S190fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
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 585192	NM_152618.3(BBS12):c.670dup (p.Thr224fs)	BBS12 (T224fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 3240873	NM_152618.3(BBS12):c.681_684del (p.Arg227fs)	BBS12 (R227fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 550788	NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)	BBS12 (Q228*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 1069739	NM_152618.3(BBS12):c.694dup (p.Ile232fs)	BBS12 (I232fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 2435112	NM_152618.3(BBS12):c.695_731del (p.Ile232fs)	BBS12 (I232fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GPathogenic
Select item 2679989	NM_152618.3(BBS12):c.719_720del (p.Thr240fs)	BBS12 (T240fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 555983	NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)	BBS12 (E254*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1422450	NM_152618.3(BBS12):c.780_781del (p.His260fs)	BBS12 (H260fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 867113	NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter)	BBS12 (Y263*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +2 more	GPathogenic/Likely pathogenic
Select item 1150	NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)	BBS12 (A289P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +3 more	GConflicting classifications of pathogenicity
Select item 1073016	NM_152618.3(BBS12):c.869_873del (p.Val290fs)	BBS12 (V290fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 959685	NM_152618.3(BBS12):c.898C>T (p.Gln300Ter)	BBS12 (Q300*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic
Select item 1448812	NM_152618.3(BBS12):c.911_912del (p.Cys304fs)	BBS12 (C304fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679990	NM_152618.3(BBS12):c.948_952del (p.Phe316fs)	BBS12 (F316fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 1030268	NM_152618.3(BBS12):c.1001A>G (p.Tyr334Cys)	BBS12 (Y334C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1934917	NM_152618.3(BBS12):c.1007del (p.Thr336fs)	BBS12 (T336fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
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 3240872	NM_152618.3(BBS12):c.1042G>T (p.Glu348Ter)	BBS12 (E348*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 560429	NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro)	BBS12 (Q352P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 1147	NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	BBS12 (R355*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +5 more	GPathogenic
Select item 2679998	NM_152618.3(BBS12):c.1073_1074del (p.Leu358fs)	BBS12 (L358fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
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 978517	NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)	BBS12 (D362fs)	Indel (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 1179065	NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs)	BBS12 (N366fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 347497	NM_152618.3(BBS12):c.1092del (p.Glu365fs)	BBS12 (E365fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1151	NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)	BBS12	Deletion (nonsense)	Bardet-Biedl syndrome +3 more	GPathogenic/Likely pathogenic
Select item 550298	NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)	BBS12 (V381fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2680002	NM_152618.3(BBS12):c.1145T>A (p.Leu382Ter)	BBS12 (L382*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 550386	NM_152618.3(BBS12):c.1151del (p.Ser384fs)	BBS12 (S384fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1310095	NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter)	BBS12 (S392*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 444641	NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)	BBS12 (L413V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1030269	NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)	BBS12 (C426R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 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 12 +1 more	GPathogenic/Likely pathogenic
Select item 2680004	NM_152618.3(BBS12):c.1289dup (p.Arg431fs)	BBS12 (R431fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679992	NM_152618.3(BBS12):c.1339G>T (p.Glu447Ter)	BBS12 (E447*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 554604	NM_152618.3(BBS12):c.1372dup (p.Thr458fs)	BBS12 (T458fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12 +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 866376	NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)	BBS12 (V465A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 851247	NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)	BBS12 (R487K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 2498304	NM_152618.3(BBS12):c.1480dup (p.Thr494fs)	BBS12 (T494fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 2680001	NM_152618.3(BBS12):c.1482_1485del (p.Gly496fs)	BBS12 (G496fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 585190	NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)	BBS12 (T501M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3240875	NM_152618.3(BBS12):c.1520del (p.Pro507fs)	BBS12 (P507fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 434492	NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)	BBS12	Deletion (inframe_deletion)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2679996	NM_152618.3(BBS12):c.1531C>T (p.Gln511Ter)	BBS12 (Q511*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679999	NM_152618.3(BBS12):c.1537C>T (p.Gln513Ter)	BBS12 (Q513*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679991	NM_152618.3(BBS12):c.1560G>A (p.Trp520Ter)	BBS12 (W520*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 220303	NM_152618.3(BBS12):c.1574G>A (p.Arg525His)	BBS12 (R525H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 974416	NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)	BBS12 (G539D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 2861657	NM_152618.3(BBS12):c.1626del (p.Glu543fs)	BBS12 (E543fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 2680003	NM_152618.3(BBS12):c.1654_1655dup (p.Leu553fs)	BBS12 (L553fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 1071069	NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)	BBS12 (E555fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679993	NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)	BBS12 (L558fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1458879	NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter)	BBS12 (S578*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic
Select item 556380	NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)	BBS12 (Y583*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 3240876	NM_152618.3(BBS12):c.1750del (p.Arg584fs)	BBS12 (R584fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2069346	NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)	BBS12 (S600*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 1073319	NM_152618.3(BBS12):c.1813_1814del (p.Asn605fs)	BBS12 (N605fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 3240879	NM_152618.3(BBS12):c.1827_1829del (p.Tyr609_Ser610delinsTer)	BBS12	Deletion (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 3240874	NM_152618.3(BBS12):c.1880_1881del (p.Thr627fs)	BBS12 (T627fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2679995	NM_152618.3(BBS12):c.1886_1887del (p.Ser629fs)	BBS12 (S629fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 3240878	NM_152618.3(BBS12):c.1887_1888del (p.Gly630fs)	BBS12 (G630fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 866623	NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)	BBS12 (P632fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2679994	NM_152618.3(BBS12):c.1910T>A (p.Leu637Ter)	BBS12 (L637*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 2181208	NM_152618.3(BBS12):c.1993GTT[1] (p.Val666del)	BBS12 (V666del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome 12 +1 more	GConflicting classifications of pathogenicity
Select item 1180724	NM_152618.3(BBS12):c.2019del (p.Trp673fs)	BBS12 (W673fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
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 1069940	NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter)	BBS12 (Q685*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic

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Items: 79