C1859568[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 406221	NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)	BBS10	Deletion (nonsense)	Bardet-Biedl syndrome 10 +3 more	GPathogenic/Likely pathogenic
Select item 1520499	NM_024685.4(BBS10):c.1696A>G (p.Asn566Asp)	BBS10 (N566D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +1 more	GUncertain significance
Select item 417949	NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)	BBS10 (Y559*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 188992	NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs)	BBS10 (T534fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +1 more	GPathogenic/Likely pathogenic
Select item 698876	NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)	BBS10 (R422Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GConflicting classifications of pathogenicity
Select item 2439474	NM_024685.4(BBS10):c.930A>G (p.Ile310Met)	BBS10 (I310M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10	GUncertain significance
Select item 216123	NM_024685.4(BBS10):c.687del (p.Val230fs)	BBS10 (V230fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 10 +2 more	GPathogenic
Select item 661491	NM_024685.4(BBS10):c.445dup (p.Leu149fs)	BBS10 (L149fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10 +2 more	GConflicting classifications of pathogenicity
Select item 30818	NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)	BBS10 (C91W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 10 +2 more	GPathogenic
Select item 1328	NM_024685.4(BBS10):c.271dup (p.Cys91fs)	BBS10 (C91fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome +5 more	GPathogenic
Select item 283884	NM_024685.4(BBS10):c.197+1G>T	BBS10	Single nucleotide variant (splice donor variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2436621	NM_024685.4(BBS10):c.157_170dup (p.Leu58fs)	BBS10 (L58fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 10	GLikely pathogenic
Select item 225010	NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)	BBS10 (R49W)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +9 more	GPathogenic/Likely pathogenic