C2936862[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 281626	NM_176824.3(BBS7):c.712_715del (p.Arg238fs)	BBS7 (R238fs)	Microsatellite (frameshift variant)	Bardet-Biedl syndrome +4 more	GPathogenic
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 2662	NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)	BBS9 (K504fs +8 more)	Deletion (frameshift variant +1 more)	BBS9-related condition +4 more	GPathogenic
Select item 2679956	NM_024649.5(BBS1):c.46dup (p.Ser16fs)	BBS1 (S16fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679961	NM_024649.5(BBS1):c.47+2T>G	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely 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 1299580	NM_024649.5(BBS1):c.48-1G>A	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 2679951	NM_024649.5(BBS1):c.70_73del (p.Leu24fs)	BBS1 (L24fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 842654	NM_024649.5(BBS1):c.68G>A (p.Trp23Ter)	BBS1 (W23*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1513499	NM_024649.5(BBS1):c.159+2del	BBS1	Deletion (splice donor variant)	Bardet-Biedl syndrome 1 +1 more	GLikely pathogenic
Select item 943228	NM_024649.5(BBS1):c.217G>T (p.Gly73Ter)	BBS1 (G73*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 370389	NM_024649.5(BBS1):c.223_224del (p.Leu75fs)	BBS1 (L75fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 305458	NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)	BBS1 (E79K)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GUncertain significance
Select item 961524	NM_024649.5(BBS1):c.319dup (p.Ala107fs)	BBS1 (A107fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1074464	NM_024649.5(BBS1):c.382C>T (p.Gln128Ter)	BBS1 (Q128*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 983832	NM_024649.5(BBS1):c.406C>T (p.Gln136Ter)	BBS1 (Q136*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 1	GLikely 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 188752	NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	BBS1 (R146*)	Single nucleotide variant (nonsense)	BBS1-related condition +3 more	GPathogenic/Likely pathogenic
Select item 645579	NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)	BBS1 (D148N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 370228	NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	BBS1 (R160Q)	Single nucleotide variant (missense variant)	BBS1-related condition +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 371003	NM_024649.5(BBS1):c.480-1G>C	BBS1	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 1	GPathogenic/Likely pathogenic
Select item 2679948	NM_024649.5(BBS1):c.579dup (p.Ile194fs)	BBS1 (I194fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2679954	NM_024649.5(BBS1):c.591+1G>A	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1459324	NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer)	BBS1	Deletion (nonsense)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 35753	NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)	BBS1 (E224K)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 2679953	NM_024649.5(BBS1):c.723+1G>A	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1 +1 more	GLikely pathogenic
Select item 967203	NM_024649.5(BBS1):c.723+1G>C	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2679957	NM_024649.5(BBS1):c.723+2T>C	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 2098720	NM_024649.5(BBS1):c.723+2T>G	BBS1	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 966229	NM_024649.5(BBS1):c.751C>G (p.Leu251Val)	BBS1, ZDHHC24 (L251V)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 2679947	NM_024649.5(BBS1):c.830+1G>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 21707	NM_024649.5(BBS1):c.831-3C>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
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 2679949	NM_024649.5(BBS1):c.855dup (p.Ile286fs)	ZDHHC24, BBS1 (I286fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1028835	NM_024649.5(BBS1):c.951+1G>T	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome 1	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 2679959	NM_024649.5(BBS1):c.951+2T>G	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 917920	NM_024649.5(BBS1):c.951+58C>T	ZDHHC24, BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1 +2 more	GPathogenic
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 2679960	NM_024649.5(BBS1):c.1021delinsGG (p.Arg341fs)	BBS1, ZDHHC24 (R341fs)	Indel (frameshift variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 1698475	NM_024649.5(BBS1):c.1110+329C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 834889	NM_024649.5(BBS1):c.1111-2A>G	ZDHHC24, BBS1	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GLikely pathogenic
Select item 216740	NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)	BBS1, ZDHHC24 (R380Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +3 more	GUncertain significance
Select item 12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1, ZDHHC24 (M390R)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 2679952	NM_024649.5(BBS1):c.1181_1191del	ZDHHC24, BBS1	Deletion (splice acceptor variant +1 more)	Bardet-Biedl syndrome 1	GLikely pathogenic
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 531824	NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)	BBS1, ZDHHC24 (A447T)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 649714	NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)	BBS1, ZDHHC24 (R483*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 371133	NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)	BBS1, ZDHHC24 (L505fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 12147	NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)	BBS1, ZDHHC24 (L518P)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1434855	NM_024649.5(BBS1):c.1564del (p.Leu522fs)	BBS1, ZDHHC24 (L522fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 216741	NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)	BBS1, ZDHHC24 (N524del)	Deletion (inframe_deletion +1 more)	Bardet-Biedl syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 285977	NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)	BBS1, ZDHHC24 (R532Q)	Single nucleotide variant (missense variant +1 more)	BBS1-related condition +4 more	GUncertain significance
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)	Retinitis pigmentosa +5 more	GPathogenic/Likely pathogenic
Select item 866100	NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter)	BBS1, ZDHHC24 (S561*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +1 more	GLikely pathogenic
Select item 860963	NM_024685.4(BBS10):c.1804G>C (p.Val602Leu)	BBS10 (V602L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 166723	NM_024685.4(BBS10):c.1091del (p.Asn364fs)	BBS10 (N364fs)	Deletion	not provided +3 more	GPathogenic/Likely pathogenic
Select item 813432	NM_024685.4(BBS10):c.943C>T (p.Gln315Ter)	BBS10 (Q315*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 1	GLikely pathogenic
Select item 30818	NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)	BBS10 (C91W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1328	NM_024685.4(BBS10):c.271dup (p.Cys91fs)	BBS10 (C91fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +6 more	GPathogenic
Select item 522272	NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)	BBS10 (L55P)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 225010	NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	BBS10 (R49W)	Single nucleotide variant (missense variant)	BBS10-related condition +10 more	GPathogenic/Likely pathogenic
Select item 9148	NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)	BBS4 (A364E +2 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 4	GLikely pathogenic

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Items: 66