"Clinical Genetics, Academic Medical Center"[submitter] AND "PCARE"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 166758	NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 54 +3 more	GBenign/Likely benign
Select item 195107	NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser)	PCARE (G1247S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54 +4 more	GBenign/Likely benign
Select item 785849	NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 54 +2 more	GBenign/Likely benign
Select item 283187	NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 193141	NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr)	PCARE (A959T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 388495	NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)	PCARE (R955Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 166760	NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)	PCARE (P867L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54 +4 more	GConflicting classifications of pathogenicity
Select item 1284319	NM_001029883.3(PCARE):c.2190C>T (p.Ser730=)	PCARE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 522284	NM_001029883.3(PCARE):c.1545dup (p.Ser516fs)	PCARE (S516fs)	Duplication (frameshift variant)	Retinitis pigmentosa 54 +1 more	GPathogenic
Select item 1284470	NM_001029883.3(PCARE):c.740T>A (p.Val247Asp)	PCARE (V247D)	Single nucleotide variant (missense variant)	not provided	GLikely benign