"Illumina Laboratory Services, Illumina"[submitter] AND "BBS1"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305456	NM_024649.5(BBS1):c.6C>T (p.Ala2=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 193457	NM_024649.5(BBS1):c.24T>C (p.Asp8=)	BBS1	Single nucleotide variant (synonymous variant)	BBS1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 305457	NM_024649.5(BBS1):c.190C>G (p.Gln64Glu)	BBS1 (Q64E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 879529	NM_024649.5(BBS1):c.200G>A (p.Arg67His)	BBS1 (R67H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GUncertain significance
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 697608	NM_024649.5(BBS1):c.243G>A (p.Pro81=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 100591	NM_024649.5(BBS1):c.316C>G (p.Leu106Val)	BBS1 (L106V)	Single nucleotide variant (missense variant)	BBS1-related condition +4 more	GUncertain significance
Select item 879530	NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys)	BBS1 (Y113C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 261750	NM_024649.5(BBS1):c.378G>A (p.Leu126=)	BBS1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 241521	NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)	BBS1 (W139*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
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 879531	NM_024649.5(BBS1):c.441C>T (p.Ile147=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 305460	NM_024649.5(BBS1):c.447C>T (p.Pro149=)	BBS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 879896	NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)	BBS1 (T162K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 879897	NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)	BBS1 (P166A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 402408	NM_024649.5(BBS1):c.616T>G (p.Leu206Val)	BBS1 (L206V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 305461	NM_024649.5(BBS1):c.636C>T (p.Asp212=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 12148	NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)	BBS1 (E234K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 96131	NM_024649.5(BBS1):c.724-8G>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +3 more	GBenign
Select item 288064	NM_024649.5(BBS1):c.803G>A (p.Arg268His)	ZDHHC24, BBS1 (R268H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 305462	NM_024649.5(BBS1):c.830+12C>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 96132	NM_024649.5(BBS1):c.831-5C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 877960	NM_024649.5(BBS1):c.867C>T (p.Ser289=)	ZDHHC24, BBS1	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 305463	NM_024649.5(BBS1):c.877G>A (p.Val293Met)	BBS1, ZDHHC24 (V293M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 305464	NM_024649.5(BBS1):c.981C>T (p.Pro327=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 305465	NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)	BBS1, ZDHHC24 (V346I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GBenign/Likely benign
Select item 877961	NM_024649.5(BBS1):c.1071T>C (p.Ile357=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 462951	NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro)	BBS1, ZDHHC24 (L363P)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 305466	NM_024649.5(BBS1):c.1110+15C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 305467	NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp)	BBS1, ZDHHC24 (R380W)	Single nucleotide variant (missense variant +1 more)	BBS1-related condition +2 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 305468	NM_024649.5(BBS1):c.1180+5G>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 305469	NM_024649.5(BBS1):c.1194C>A (p.Ile398=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 840005	NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)	BBS1, ZDHHC24 (Q437L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 288534	NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala)	BBS1, ZDHHC24 (G445A)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 285380	NM_024649.5(BBS1):c.1338C>T (p.Thr446=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	BBS1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 194431	NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln)	BBS1, ZDHHC24 (R450Q)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 878123	NM_024649.5(BBS1):c.1371C>T (p.Tyr457=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	BBS1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 702123	NM_024649.5(BBS1):c.1383A>G (p.Leu461=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 305470	NM_024649.5(BBS1):c.1394G>A (p.Arg465His)	BBS1, ZDHHC24 (R465H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 261747	NM_024649.5(BBS1):c.1413C>T (p.Leu471=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 225300	NM_024649.5(BBS1):c.1535G>A (p.Arg512His)	BBS1, ZDHHC24 (R512H)	Single nucleotide variant (missense variant +1 more)	BBS1-related condition +3 more	GUncertain significance
Select item 879584	NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)	BBS1, ZDHHC24 (P531L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
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 698700	NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)	BBS1, ZDHHC24 (N545S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 879585	NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp)	ZDHHC24, BBS1 (G559D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 305471	NM_024649.5(BBS1):c.1695+10G>A	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +2 more	GBenign
Select item 879936	NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)	BBS1, ZDHHC24 (R570Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 305472	NM_024649.5(BBS1):c.1719A>G (p.Gln573=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GBenign/Likely benign
Select item 305473	NM_024649.5(BBS1):c.1744G>A (p.Val582Ile)	BBS1, ZDHHC24 (V582I)	Single nucleotide variant (missense variant +1 more)	BBS1-related condition +2 more	GUncertain significance
Select item 261745	NM_024649.5(BBS1):c.*7A>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GBenign
Select item 305474	NM_024649.5(BBS1):c.*10T>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	BBS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 879937	NM_024649.5(BBS1):c.*51C>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 305475	NM_024649.5(BBS1):c.*104G>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 877138	NM_024649.5(BBS1):c.*187C>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GBenign
Select item 877139	NM_024649.5(BBS1):c.*219A>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GLikely benign
Select item 877140	NM_024649.5(BBS1):c.*259C>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 305476	NM_024649.5(BBS1):c.*428G>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GBenign
Select item 305477	NM_024649.5(BBS1):c.*473C>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 877141	NM_024649.5(BBS1):c.*474G>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 305478	NM_024649.5(BBS1):c.*514C>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 305479	NM_024649.5(BBS1):c.*522C>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 305480	NM_024649.5(BBS1):c.562_563dup	BBS1, ZDHHC24	Duplication (3 prime UTR variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 878172	NM_024649.5(BBS1):c.*776G>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 305481	NM_024649.5(BBS1):c.*840A>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GBenign
Select item 305482	NM_024649.5(BBS1):c.*855G>A	ZDHHC24, BBS1	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 878173	NM_024649.5(BBS1):c.*886C>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 878174	NM_024649.5(BBS1):c.*950C>T	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 305483	NM_024649.5(BBS1):c.*955G>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GBenign
Select item 305484	NM_024649.5(BBS1):c.*1088G>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 305485	NM_024649.5(BBS1):c.*1215T>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GBenign
Select item 879626	NM_024649.5(BBS1):c.*1217C>A	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 879627	NM_024649.5(BBS1):c.*1274A>G	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 879628	NM_024649.5(BBS1):c.*1349T>C	BBS1, ZDHHC24	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance

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Items: 74