"Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg Univer - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 370919	NM_024649.5(BBS1):c.951+1G>A	ZDHHC24, BBS1	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 585170	NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg)	BBS1, ZDHHC24 (S375R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 12143	NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	BBS1, ZDHHC24 (M390R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 585171	NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)	BBS1, ZDHHC24 (R393*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +2 more	GPathogenic
Select item 585172	NM_024649.5(BBS1):c.1473+4A>G	BBS1, ZDHHC24	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome	GPathogenic
Select item 585173	NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg)	BBS1, ZDHHC24 (K565R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 975788	NM_024649.4:c.(159+1_160-1)_(1110+1_1111-1)del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 975787	NM_024649.4:c.1214_1215ins[MT113356.1:g.1_2409]	BBS1	Insertion	Bardet-Biedl syndrome	GPathogenic
Select item 975114	NM_024649.4:c.160-?_1110+?del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 585174	NM_024649.4(BBS1):c.592-?_830+?del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 585169	NM_024649.4(BBS1):c.1111-?_1695+?del	BBS1	Deletion	Bardet-Biedl syndrome	GPathogenic