"Genetic Services Laboratory, University of Chicago"[submitter] AND "C - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1338219	NM_001382391.1(CSPP1):c.-150A>C	CSPP1 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 379431	NM_001382391.1(CSPP1):c.-121A>G	CSPP1	Single nucleotide variant (5 prime UTR variant +1 more)	CSPP1-related disorder +3 more	GBenign/Likely benign
Select item 386180	NM_001382391.1(CSPP1):c.51C>T (p.Ala17=)	CSPP1	Single nucleotide variant (synonymous variant)	Joubert syndrome 21 +2 more	GLikely benign
Select item 575640	NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)	CSPP1 (K20fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 707126	NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln)	CSPP1 (R308Q +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 21 +1 more	GLikely benign
Select item 674038	NM_001382391.1(CSPP1):c.965A>G (p.His322Arg)	CSPP1 (H322R +4 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 21 +2 more	GBenign/Likely benign
Select item 210792	NM_001382391.1(CSPP1):c.1022+5A>C	CSPP1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 434847	NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)	CSPP1 (Y735* +7 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 100674	NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)	CSPP1 (E405fs +6 more)	Deletion (frameshift variant)	Joubert syndrome 21 +1 more	GPathogenic
Select item 434846	NM_001382391.1(CSPP1):c.2829-9_2968+11del	CSPP1	Deletion (splice acceptor variant +1 more)	Joubert syndrome 21	GPathogenic
Select item 434844	NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=)	ARFGEF1, CSPP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 434845	NM_001382391.1(CSPP1):c.*6A>G	CSPP1, ARFGEF1	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance