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

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2299147	NM_006445.4(PRPF8):c.6959T>G (p.Leu2320Arg)	PRPF8 (L2320R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1009077	NM_006445.4(PRPF8):c.6896C>T (p.Ala2299Val)	PRPF8 (A2299V)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 2288496	NM_006445.4(PRPF8):c.6634A>G (p.Ile2212Val)	PRPF8 (I2212V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599322	NM_006445.4(PRPF8):c.6505C>T (p.Leu2169Phe)	PRPF8 (L2169F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1000319	NM_006445.4(PRPF8):c.6297G>C (p.Glu2099Asp)	PRPF8 (E2099D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2266755	NM_006445.4(PRPF8):c.6146A>G (p.Lys2049Arg)	PRPF8 (K2049R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 933814	NM_006445.4(PRPF8):c.5915C>A (p.Thr1972Asn)	PRPF8 (T1972N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3219217	NM_006445.4(PRPF8):c.5878A>T (p.Thr1960Ser)	PRPF8 (T1960S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258379	NM_006445.4(PRPF8):c.5871C>G (p.Asp1957Glu)	PRPF8 (D1957E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 286517	NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 3219216	NM_006445.4(PRPF8):c.5495G>A (p.Arg1832His)	PRPF8 (R1832H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 844424	NM_006445.4(PRPF8):c.5471C>T (p.Thr1824Met)	PRPF8 (T1824M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 808181	NM_006445.4(PRPF8):c.5413G>A (p.Gly1805Arg)	PRPF8 (G1805R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1035445	NM_006445.4(PRPF8):c.5164A>G (p.Ser1722Gly)	PRPF8 (S1722G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3219215	NM_006445.4(PRPF8):c.4310G>A (p.Arg1437His)	PRPF8 (R1437H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2530377	NM_006445.4(PRPF8):c.4280G>A (p.Arg1427Gln)	PRPF8 (R1427Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2039363	NM_006445.4(PRPF8):c.4061G>A (p.Arg1354His)	PRPF8 (R1354H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1001134	NM_006445.4(PRPF8):c.3611A>G (p.Tyr1204Cys)	PRPF8 (Y1204C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2622272	NM_006445.4(PRPF8):c.3536G>A (p.Ser1179Asn)	PRPF8 (S1179N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282242	NM_006445.4(PRPF8):c.3523G>A (p.Val1175Met)	PRPF8 (V1175M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532502	NM_006445.4(PRPF8):c.3427A>G (p.Met1143Val)	PRPF8 (M1143V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303796	NM_006445.4(PRPF8):c.3199A>T (p.Met1067Leu)	PRPF8 (M1067L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1025988	NM_006445.4(PRPF8):c.2938C>T (p.Arg980Cys)	PRPF8 (R980C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2237975	NM_006445.4(PRPF8):c.2712C>G (p.His904Gln)	PRPF8 (H904Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 321907	NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn)	PRPF8 (K623N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2311124	NM_006445.4(PRPF8):c.1648G>T (p.Val550Phe)	PRPF8 (V550F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1379451	NM_006445.4(PRPF8):c.1420C>T (p.Arg474Cys)	PRPF8 (R474C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3219213	NM_006445.4(PRPF8):c.1276C>T (p.Leu426Phe)	PRPF8 (L426F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1039577	NM_006445.4(PRPF8):c.1075A>G (p.Ile359Val)	PRPF8 (I359V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2214575	NM_006445.4(PRPF8):c.965A>G (p.Asn322Ser)	PRPF8 (N322S)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 3310388	NM_006445.4(PRPF8):c.964A>T (p.Asn322Tyr)	PRPF8 (N322Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612760	NM_006445.4(PRPF8):c.961A>G (p.Asn321Asp)	PRPF8 (N321D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3310389	NM_006445.4(PRPF8):c.890A>T (p.Asn297Ile)	PRPF8 (N297I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1518827	NM_006445.4(PRPF8):c.890A>G (p.Asn297Ser)	PRPF8 (N297S)	Single nucleotide variant (missense variant)	not provided +1 more	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 942091	NM_006445.4(PRPF8):c.389A>G (p.Asn130Ser)	PRPF8 (N130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 941787	NM_006445.4(PRPF8):c.385G>A (p.Val129Ile)	PRPF8 (V129I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2286078	NM_006445.4(PRPF8):c.340C>G (p.Arg114Gly)	PRPF8 (R114G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 321921	NM_006445.4(PRPF8):c.283A>G (p.Met95Val)	PRPF8 (M95V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1423236	NM_006445.4(PRPF8):c.76T>A (p.Ser26Thr)	PRPF8 (S26T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 41