"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PRPF8"[gen - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916436	NM_006445.4(PRPF8):c.6974_6994del (p.Val2325_Glu2331del)	PRPF8	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 1879354	NM_006445.4(PRPF8):c.6976del (p.Tyr2326fs)	PRPF8 (Y2326fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 425116	NM_006445.3(PRPF8):c.6972dup (p.Val2325Glyfs)	PRPF8 (V2325fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 425117	NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs)	PRPF8 (E2324fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 623916	NM_006445.4(PRPF8):c.6966G>T (p.Glu2322Asp)	PRPF8 (E2322D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 444391	NM_006445.4(PRPF8):c.6938A>G (p.His2313Arg)	PRPF8 (H2313R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 321871	NM_006445.4(PRPF8):c.6834G>A (p.Ser2278=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 724648	NM_006445.4(PRPF8):c.6750C>T (p.Gly2250=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 624085	NM_006445.4(PRPF8):c.6651-3C>A	PRPF8	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 624086	NM_006445.4(PRPF8):c.6428G>A (p.Arg2143His)	PRPF8 (R2143H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711422	NM_006445.4(PRPF8):c.6066G>A (p.Gln2022=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 849105	NM_006445.4(PRPF8):c.5987+3G>T	PRPF8	Single nucleotide variant (intron variant)	not provided	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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3067244	NM_006445.4(PRPF8):c.5764G>A (p.Asp1922Asn)	PRPF8 (D1922N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 808181	NM_006445.4(PRPF8):c.5413G>A (p.Gly1805Arg)	PRPF8 (G1805R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 196868	NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 3067792	NM_006445.4(PRPF8):c.4812G>C (p.Leu1604=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196132	NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=)	PRPF8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 808182	NM_006445.4(PRPF8):c.3633C>T (p.Asp1211=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667707	NM_006445.4(PRPF8):c.3576C>T (p.Phe1192=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 891300	NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1013120	NM_006445.4(PRPF8):c.2453A>G (p.Glu818Gly)	PRPF8 (E818G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546783	NM_006445.4(PRPF8):c.2257A>G (p.Thr753Ala)	PRPF8 (T753A)	Single nucleotide variant (missense variant)	not provided	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 889126	NM_006445.4(PRPF8):c.1720-7A>G	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1650428	NM_006445.4(PRPF8):c.1281C>A (p.Val427=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 321913	NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser)	PRPF8 (T418S)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 808183	NM_006445.4(PRPF8):c.1221C>T (p.Ala407=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647190	NM_006445.4(PRPF8):c.693A>G (p.Thr231=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902001	NM_006445.4(PRPF8):c.636G>A (p.Pro212=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 32