"PreventionGenetics, part of Exact Sciences"[submitter] AND "BBS5"[gen - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262633	NM_152384.3(BBS5):c.-40G>C	BBS5, LOC129935068	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 1338227	NM_152384.3(BBS5):c.-2C>A	BBS5, LOC129935068	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 846352	NM_152384.3(BBS5):c.32G>A (p.Arg11Gln)	BBS5, LOC129935068 (R11Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5 +5 more	GUncertain significance
Select item 262636	NM_152384.3(BBS5):c.39C>G (p.Val13=)	BBS5, LOC129935068	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 695794	NM_152384.3(BBS5):c.60-3T>C	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 5 +2 more	GLikely benign
Select item 858646	NM_152384.3(BBS5):c.92T>C (p.Ile31Thr)	BBS5 (I31T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 5 +2 more	GUncertain significance
Select item 262634	NM_152384.3(BBS5):c.108C>T (p.Ser36=)	BBS5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1006894	NM_152384.3(BBS5):c.110T>C (p.Ile37Thr)	BBS5 (I37T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 569727	NM_152384.3(BBS5):c.143-1G>C	BBS5	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome +3 more	GPathogenic/Likely pathogenic
Select item 698144	NM_152384.3(BBS5):c.190T>C (p.Leu64=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign
Select item 412294	NM_152384.3(BBS5):c.203A>G (p.Asn68Ser)	BBS5 (N68S)	Single nucleotide variant (missense variant)	BBS5-related condition +2 more	GUncertain significance
Select item 2630499	NM_152384.3(BBS5):c.221A>C (p.Asn74Thr)	BBS5 (N74T)	Single nucleotide variant (missense variant)	BBS5-related condition	GUncertain significance
Select item 1440453	NM_152384.3(BBS5):c.229T>A (p.Leu77Met)	BBS5 (L77M)	Single nucleotide variant (missense variant)	BBS5-related condition +1 more	GUncertain significance
Select item 1382286	NM_152384.3(BBS5):c.259-3C>T	BBS5	Single nucleotide variant (intron variant)	BBS5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1114569	NM_152384.3(BBS5):c.276T>C (p.Thr92=)	BBS5	Single nucleotide variant (synonymous variant)	BBS5-related condition +1 more	GLikely benign
Select item 262635	NM_152384.3(BBS5):c.285C>T (p.Leu95=)	BBS5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2985532	NM_152384.3(BBS5):c.345T>G (p.Pro115=)	BBS5	Single nucleotide variant (synonymous variant)	BBS5-related condition +1 more	GLikely benign
Select item 437993	NM_152384.3(BBS5):c.412C>T (p.Arg138Cys)	BBS5 (R138C)	Single nucleotide variant (missense variant)	BBS5-related condition	GLikely pathogenic
Select item 531838	NM_152384.3(BBS5):c.462G>C (p.Leu154=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 417200	NM_152384.3(BBS5):c.468A>G (p.Pro156=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 5 +2 more	GBenign/Likely benign
Select item 1554006	NM_152384.3(BBS5):c.480A>G (p.Val160=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 262637	NM_152384.3(BBS5):c.501T>A (p.Val167=)	BBS5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 701357	NM_152384.3(BBS5):c.516T>C (p.Ser172=)	BBS5	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +3 more	GLikely benign
Select item 1665933	NM_152384.3(BBS5):c.531A>G (p.Leu177=)	BBS5	Single nucleotide variant (synonymous variant)	BBS5-related condition +1 more	GLikely benign
Select item 1059479	NM_152384.3(BBS5):c.536C>T (p.Thr179Ile)	BBS5 (T179I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 578815	NM_152384.3(BBS5):c.542T>C (p.Phe181Ser)	BBS5 (F181S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 96498	NM_152384.3(BBS5):c.584A>G (p.Asp195Gly)	BBS5 (D195G)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3038650	NM_152384.3(BBS5):c.619-35A>C	BBS5	Single nucleotide variant (intron variant)	BBS5-related condition	GLikely benign
Select item 1590782	NM_152384.3(BBS5):c.619-19_619-14del	BBS5	Microsatellite (intron variant)	BBS5-related condition +1 more	GLikely benign
Select item 1125494	NM_152384.3(BBS5):c.619-9T>C	BBS5	Single nucleotide variant (intron variant)	BBS5-related condition +1 more	GLikely benign
Select item 3038952	NM_152384.3(BBS5):c.619-5T>G	BBS5	Single nucleotide variant (intron variant)	BBS5-related condition	GUncertain significance
Select item 96499	NM_152384.3(BBS5):c.620G>A (p.Arg207His)	BBS5 (R207H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +2 more	GBenign/Likely benign
Select item 1114089	NM_152384.3(BBS5):c.693T>C (p.Tyr231=)	BBS5	Single nucleotide variant (synonymous variant)	BBS5-related condition +1 more	GLikely benign
Select item 412295	NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)	BBS5 (N251D)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1522903	NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys)	BBS5 (Y257C)	Single nucleotide variant (missense variant)	BBS5-related condition +2 more	GUncertain significance
Select item 1930070	NM_152384.3(BBS5):c.799T>G (p.Tyr267Asp)	BBS5 (Y267D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1516786	NM_152384.3(BBS5):c.829G>A (p.Glu277Lys)	BBS5 (E277K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1045268	NM_152384.3(BBS5):c.888G>A (p.Thr296=)	BBS5	Single nucleotide variant (synonymous variant)	BBS5-related condition +1 more	GLikely benign
Select item 262638	NM_152384.3(BBS5):c.901-48G>C	BBS5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2169472	NM_152384.3(BBS5):c.925-4A>G	BBS5	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1090990	NM_152384.3(BBS5):c.979T>C (p.Leu327=)	BBS5	Single nucleotide variant (synonymous variant)	BBS5-related condition +1 more	GLikely benign

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Items: 41