"PreventionGenetics, part of Exact Sciences"[submitter] AND "PCARE"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1407779	NM_001029883.3(PCARE):c.3826T>G (p.Ser1276Ala)	PCARE (S1276A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1664852	NM_001029883.3(PCARE):c.3066C>T (p.Ser1022=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1102349	NM_001029883.3(PCARE):c.3037C>G (p.Pro1013Ala)	PCARE (P1013A)	Single nucleotide variant (missense variant)	PCARE-related condition +1 more	GLikely benign
Select item 1361798	NM_001029883.3(PCARE):c.3021G>T (p.Lys1007Asn)	PCARE (K1007N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 438048	NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	PCARE (W1001*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +5 more	GPathogenic/Likely pathogenic
Select item 979001	NM_001029883.3(PCARE):c.2967del (p.Val990fs)	PCARE (V990fs)	Deletion (frameshift variant)	PCARE-related condition +1 more	GPathogenic
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 166761	NM_001029883.3(PCARE):c.2418C>T (p.Pro806=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193137	NM_001029883.3(PCARE):c.2348T>C (p.Ile783Thr)	PCARE (I783T)	Single nucleotide variant (missense variant)	PCARE-related condition +2 more	GLikely benign
Select item 3044708	NM_001029883.3(PCARE):c.1959C>T (p.Gly653=)	PCARE	Single nucleotide variant (synonymous variant)	PCARE-related condition	GLikely benign
Select item 732230	NM_001029883.3(PCARE):c.1776G>A (p.Thr592=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 335664	NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)	PCARE (P433S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54 +4 more	GConflicting classifications of pathogenicity
Select item 1093080	NM_001029883.3(PCARE):c.747G>A (p.Glu249=)	PCARE	Single nucleotide variant (synonymous variant)	PCARE-related condition +1 more	GLikely benign