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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812237	NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)	PCARE (Q1097*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 812238	NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter)	PCARE (R984*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 105	NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)	PCARE (K919fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812239	NM_001029883.3(PCARE):c.776_777del (p.Glu259fs)	PCARE (E259fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 812240	NM_001029883.3(PCARE):c.707T>G (p.Ile236Ser)	PCARE (I236S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 104	NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)	PCARE (Q186*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 54 +1 more	GPathogenic
Select item 812241	NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter)	PCARE (C160*)	Insertion (nonsense)	PCARE-related retinopathy +1 more	GPathogenic

ClinVar