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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812258	NM_033100.4(CDHR1):c.1A>T (p.Met1Leu)	CDHR1 (M1L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812259	NM_033100.4(CDHR1):c.827G>A (p.Gly276Asp)	CDHR1 (G276D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812260	NM_033100.4(CDHR1):c.1373T>A (p.Val458Asp)	CDHR1 (V458D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812261	NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter)	CDHR1 (Q461*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 812262	NM_033100.4(CDHR1):c.1485+2T>G	CDHR1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 812263	NM_001171971.3(CDHR1):c.2087_2090del (p.Thr696fs)	CDHR1 (T696fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic

ClinVar