"Blueprint Genetics"[submitter] AND "PRPF8"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 865924	NM_006445.4(PRPF8):c.7000T>A (p.Tyr2334Asn)	PRPF8 (Y2334N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 866166	NM_006445.4(PRPF8):c.6996C>A (p.Asp2332Glu)	PRPF8 (D2332E)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3357	NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys)	PRPF8 (R2310K)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
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 3355	NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg)	PRPF8 (H2309R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 866145	NM_006445.4(PRPF8):c.6910T>G (p.Phe2304Val)	PRPF8 (F2304V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 867220	NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser)	PRPF8 (P2301S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 808180	NM_006445.4(PRPF8):c.6821C>T (p.Pro2274Leu)	PRPF8 (P2274L)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866792	NM_006445.4(PRPF8):c.6650+5G>A	PRPF8	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 867208	NM_006445.4(PRPF8):c.6449A>G (p.Gln2150Arg)	PRPF8 (Q2150R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866796	NM_006445.4(PRPF8):c.6446_6447insCAC (p.Pro2149_Gln2150insThr)	PRPF8	Insertion (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 866049	NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del)	PRPF8, RILP (K2113del)	Microsatellite (inframe_deletion)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 866336	NM_006445.4(PRPF8):c.5951A>G (p.Lys1984Arg)	PRPF8 (K1984R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 546782	NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)	PRPF8 (R1935H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 867014	NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met)	PRPF8 (T1931M)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866174	NM_006445.4(PRPF8):c.4339-7C>T	PRPF8	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 866933	NM_006445.4(PRPF8):c.3456G>A (p.Ala1152=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 866688	NM_006445.4(PRPF8):c.3335G>A (p.Arg1112His)	PRPF8 (R1112H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866903	NM_006445.4(PRPF8):c.2181+5G>A	PRPF8	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 867030	NM_006445.4(PRPF8):c.1435A>T (p.Thr479Ser)	PRPF8 (T479S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866482	NM_006445.4(PRPF8):c.851G>A (p.Arg284Gln)	PRPF8 (R284Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 866946	NM_006445.4(PRPF8):c.57C>G (p.Ala19=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance

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Items: 22