"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BBS1"[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990060	NM_024649.5(BBS1):c.-3A>G	BBS1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GUncertain significance
Select item 1379070	NM_024649.5(BBS1):c.10G>T (p.Ala4Ser)	BBS1 (A4S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 1079008	NM_024649.5(BBS1):c.33C>A (p.Ala11=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1445800	NM_024649.5(BBS1):c.43G>A (p.Glu15Lys)	BBS1 (E15K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 531837	NM_024649.5(BBS1):c.54G>A (p.Glu18=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 972671	NM_024649.5(BBS1):c.77C>T (p.Ala26Val)	BBS1 (A26V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 1359126	NM_024649.5(BBS1):c.88C>A (p.Pro30Thr)	BBS1 (P30T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 802688	NM_024649.5(BBS1):c.118del (p.Cys40fs)	BBS1 (C40fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic
Select item 462953	NM_024649.5(BBS1):c.157A>G (p.Lys53Glu)	BBS1 (K53E)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 592062	NM_024649.5(BBS1):c.169G>C (p.Gly57Arg)	BBS1 (G57R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 942786	NM_024649.5(BBS1):c.175C>G (p.Leu59Val)	BBS1 (L59V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 1401055	NM_024649.5(BBS1):c.199C>T (p.Arg67Cys)	BBS1 (R67C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 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 +3 more	GUncertain significance
Select item 370389	NM_024649.5(BBS1):c.223_224del (p.Leu75fs)	BBS1 (L75fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 305458	NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)	BBS1 (E79K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GUncertain significance
Select item 1382284	NM_024649.5(BBS1):c.316C>T (p.Leu106Phe)	BBS1 (L106F)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 100591	NM_024649.5(BBS1):c.316C>G (p.Leu106Val)	BBS1 (L106V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 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 969195	NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr)	BBS1 (C111Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 990063	NM_024649.5(BBS1):c.357A>T (p.Arg119Ser)	BBS1 (R119S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 838441	NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)	BBS1 (Q136R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 1639790	NM_024649.5(BBS1):c.432+17G>C	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 188752	NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)	BBS1 (R146*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 845479	NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)	BBS1 (R160W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 370228	NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)	BBS1 (R160Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +4 more	GPathogenic/Likely pathogenic
Select item 1625042	NM_024649.5(BBS1):c.479+20T>C	BBS1	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 879897	NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)	BBS1 (P166A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 844498	NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)	BBS1 (Q170R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 389028	NM_024649.5(BBS1):c.569A>T (p.Lys190Met)	BBS1 (K190M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +3 more	GUncertain significance
Select item 1040540	NM_024649.5(BBS1):c.595G>A (p.Val199Ile)	BBS1 (V199I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1061853	NM_024649.5(BBS1):c.602C>T (p.Thr201Ile)	BBS1 (T201I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1605520	NM_024649.5(BBS1):c.606C>T (p.Thr202=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 1 +1 more	GLikely benign
Select item 852447	NM_024649.5(BBS1):c.677A>G (p.Lys226Arg)	BBS1 (K226R)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1151922	NM_024649.5(BBS1):c.684C>T (p.Leu228=)	BBS1	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
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 969824	NM_024649.5(BBS1):c.725T>C (p.Met242Thr)	BBS1, ZDHHC24 (M242T)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 283883	NM_024649.5(BBS1):c.726G>A (p.Met242Ile)	BBS1, ZDHHC24 (M242I)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 970728	NM_024649.5(BBS1):c.734C>T (p.Pro245Leu)	BBS1, ZDHHC24 (P245L)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 863198	NM_024649.5(BBS1):c.739G>A (p.Val247Ile)	ZDHHC24, BBS1 (V247I)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 990065	NM_024649.5(BBS1):c.742C>A (p.Pro248Thr)	BBS1, ZDHHC24 (P248T)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
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 more	GUncertain significance
Select item 289320	NM_024649.5(BBS1):c.772G>C (p.Asp258His)	BBS1, ZDHHC24 (D258H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1336076	NM_024649.5(BBS1):c.802C>T (p.Arg268Cys)	BBS1, ZDHHC24 (R268C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GUncertain significance
Select item 1490603	NM_024649.5(BBS1):c.808G>A (p.Gly270Arg)	BBS1, ZDHHC24 (G270R)	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 1578915	NM_024649.5(BBS1):c.830+12del	BBS1, ZDHHC24	Deletion (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GLikely benign
Select item 371274	NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)	ZDHHC24, BBS1 (Q291*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +1 more	GPathogenic
Select item 305463	NM_024649.5(BBS1):c.877G>A (p.Val293Met)	BBS1, ZDHHC24 (V293M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 574647	NM_024649.5(BBS1):c.887T>C (p.Ile296Thr)	BBS1, ZDHHC24 (I296T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 193740	NM_024649.5(BBS1):c.887del (p.Ile296fs)	BBS1, ZDHHC24 (I296fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +3 more	GPathogenic
Select item 842189	NM_024649.5(BBS1):c.901G>A (p.Val301Ile)	BBS1, ZDHHC24 (V301I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1051033	NM_024649.5(BBS1):c.910G>T (p.Val304Leu)	BBS1, ZDHHC24 (V304L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 917920	NM_024649.5(BBS1):c.951+58C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 1 +2 more	GPathogenic
Select item 695359	NM_024649.5(BBS1):c.1020C>G (p.Ser340=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1 +3 more	GBenign/Likely benign
Select item 944920	NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)	BBS1, ZDHHC24 (R341W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1026513	NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp)	BBS1, ZDHHC24 (N352D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	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 +2 more	GUncertain significance
Select item 843339	NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu)	BBS1, ZDHHC24 (P370L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 834889	NM_024649.5(BBS1):c.1111-2A>G	BBS1, ZDHHC24	Single nucleotide variant (splice acceptor variant +1 more)	Bardet-Biedl syndrome +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)	not provided +3 more	GUncertain significance
Select item 806695	NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg)	BBS1, ZDHHC24 (G382R)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 1434361	NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn)	BBS1, ZDHHC24 (T392N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 840928	NM_024649.5(BBS1):c.1243G>A (p.Val415Met)	BBS1, ZDHHC24 (V415M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 462952	NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)	BBS1, ZDHHC24 (N426S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
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 1440266	NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp)	BBS1, ZDHHC24 (R432W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance
Select item 840005	NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)	BBS1, ZDHHC24 (Q437L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 531824	NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)	ZDHHC24, BBS1 (A447T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +3 more	GPathogenic/Likely pathogenic
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 531828	NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys)	ZDHHC24, BBS1 (T480K)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +2 more	GUncertain significance
Select item 649714	NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)	BBS1, ZDHHC24 (R483*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 1444932	NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln)	BBS1, ZDHHC24 (R483Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 1136978	NM_024649.5(BBS1):c.1470C>T (p.Ala490=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GLikely benign
Select item 1419919	NM_024649.5(BBS1):c.1471G>A (p.Val491Met)	BBS1, ZDHHC24 (V491M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1121939	NM_024649.5(BBS1):c.1474-14C>T	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1450459	NM_024649.5(BBS1):c.1474G>T (p.Val492Phe)	BBS1, ZDHHC24 (V492F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 700439	NM_024649.5(BBS1):c.1485T>C (p.Leu495=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GLikely benign
Select item 990494	NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr)	BBS1, ZDHHC24 (P497T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 990495	NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala)	ZDHHC24, BBS1 (T510A)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 969583	NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser)	BBS1, ZDHHC24 (R512S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1103931	NM_024649.5(BBS1):c.1554G>T (p.Leu518=)	ZDHHC24, BBS1	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
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 +2 more	GUncertain significance
Select item 393063	NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp)	BBS1, ZDHHC24 (R532W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 862497	NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu)	BBS1, ZDHHC24 (R532L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 285977	NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)	ZDHHC24, BBS1 (R532Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 813017	NM_024649.5(BBS1):c.1608+1G>A	BBS1, ZDHHC24	Single nucleotide variant (splice donor variant +1 more)	Retinitis pigmentosa +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 +4 more	GPathogenic/Likely pathogenic
Select item 636150	NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys)	BBS1, ZDHHC24 (S554C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 305473	NM_024649.5(BBS1):c.1744G>A (p.Val582Ile)	BBS1, ZDHHC24 (V582I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1379366	NM_024649.5(BBS1):c.1752G>A (p.Met584Ile)	BBS1, ZDHHC24 (M584I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 391252	NM_024649.5(BBS1):c.1772C>T (p.Ala591Val)	BBS1, ZDHHC24 (A591V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 697719	NM_024649.5(BBS1):c.1773G>A (p.Ala591=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1110464	NM_024649.5(BBS1):c.1776C>T (p.Ala592=)	BBS1, ZDHHC24	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 1417809	NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr)	BBS1, ZDHHC24 (A593T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1 +1 more	GUncertain significance

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Items: 94