"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130068202" - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368304	NM_006915.3(RP2):c.-44G>C	LOC130068202, RP2	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 914210	NM_006915.3(RP2):c.-35A>G	LOC130068202, RP2	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 368305	NM_006915.3(RP2):c.-26G>T	LOC130068202, RP2	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 914211	NM_006915.3(RP2):c.11T>G (p.Phe4Cys)	LOC130068202, RP2 (F4C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 289614	NM_006915.3(RP2):c.30G>A (p.Lys10=)	LOC130068202, RP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

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