"GeneDx"[submitter] AND "PCARE"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 817091	NM_001029883.3(PCARE):c.3717_3718del (p.Cys1240fs)	PCARE (C1240fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 839525	NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter)	PCARE (R1202*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 812237	NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)	PCARE (Q1097*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 193135	NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg)	PCARE (Q1020R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 193134	NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys)	PCARE (Q1020K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 438048	NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	PCARE (W1001*)	Single nucleotide variant (nonsense)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 388495	NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)	PCARE (R955Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 504133	NM_001029883.3(PCARE):c.2393G>A (p.Trp798Ter)	PCARE (W798*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 545943	NM_001029883.3(PCARE):c.2298del (p.Arg767fs)	PCARE (R767fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 335664	NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)	PCARE (P433S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54 +3 more	GConflicting classifications of pathogenicity
Select item 1433832	NM_001029883.3(PCARE):c.728T>C (p.Leu243Pro)	PCARE (L243P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 193138	NM_001029883.3(PCARE):c.667C>G (p.Leu223Val)	PCARE (L223V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3361842	NM_001029883.3(PCARE):c.3088C>A (p.Pro1030Thr)	PCARE (P1030T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance