C1838702[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356	NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro)	PRPF8 (H2309P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13 +1 more	GPathogenic/Likely pathogenic
Select item 197012	NM_006445.4(PRPF8):c.5794-3C>G	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 13 +1 more	GUncertain significance
Select item 321879	NM_006445.4(PRPF8):c.5469C>T (p.His1823=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 196132	NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 13 +3 more	GBenign/Likely benign
Select item 889760	NM_006445.4(PRPF8):c.3447-12C>T	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 13 +2 more	GBenign/Likely benign
Select item 321897	NM_006445.4(PRPF8):c.2873-13T>C	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GBenign
Select item 321903	NM_006445.4(PRPF8):c.2493C>G (p.Ser831=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 1108824	NM_006445.4(PRPF8):c.1985-6dup	PRPF8	Duplication (intron variant)	Retinitis pigmentosa 13 +1 more	GLikely benign
Select item 321910	NM_006445.4(PRPF8):c.1290-10A>G	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GBenign
Select item 1430048	NM_006445.4(PRPF8):c.654-5C>T	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 13 +1 more	GConflicting classifications of pathogenicity
Select item 1168313	NM_006445.4(PRPF8):c.603C>T (p.Ala201=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign