"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812273	NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys)	LOC101927157, CNGA1 (F613C +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 236443	NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)	CNGA1, LOC101927157 (R583* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 49 +3 more	GPathogenic/Likely pathogenic
Select item 812274	NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg)	CNGA1, LOC101927157 (S421R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16932	NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	CNGA1, LOC101927157 (S389F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic
Select item 242520	NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)	CNGA1, LOC101927157 (R287* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +2 more	GPathogenic
Select item 812275	NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser)	CNGA1, LOC101927157 (I241S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 812276	NM_001379270.1(CNGA1):c.305del (p.Lys102fs)	CNGA1, LOC101927157 (K175fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 548707	NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)	CNGA1, LOC101927157 (R101* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic