"Blueprint Genetics"[submitter] AND "PRPF31"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866039	NM_015629.4(PRPF31):c.-6C>A	PRPF31	Single nucleotide variant (5 prime UTR variant)	Retinal dystrophy	GUncertain significance
Select item 866568	NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs)	PRPF31 (D56fs)	Duplication (frameshift variant)	Retinitis pigmentosa +1 more	GLikely pathogenic
Select item 867125	NM_015629.4(PRPF31):c.183dup (p.Glu62Ter)	PRPF31 (E62*)	Duplication (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866121	NM_015629.4(PRPF31):c.195del (p.Met65fs)	PRPF31 (M65fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866371	NM_015629.4(PRPF31):c.239-1G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866157	NM_015629.4(PRPF31):c.239-1G>T	PRPF31, PRPF31-AS1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 866645	NM_015629.4(PRPF31):c.330_333del (p.His111fs)	PRPF31, PRPF31-AS1 (H111fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 866099	NM_015629.4(PRPF31):c.358_361del (p.Lys120fs)	PRPF31, PRPF31-AS1 (K120fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 636189	NM_015629.4(PRPF31):c.373C>G (p.Leu125Val)	PRPF31, PRPF31-AS1 (L125V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866142	NM_015629.4(PRPF31):c.421-2A>C	PRPF31	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 372779	NM_015629.4(PRPF31):c.527+1G>T	PRPF31	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 4360	NM_015629.4(PRPF31):c.527+3A>G	PRPF31	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866923	NM_015629.4(PRPF31):c.550_552del (p.Leu184del)	PRPF31 (L184del)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 804158	NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter)	PRPF31 (C191*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866779	NM_015629.4(PRPF31):c.605dup (p.His202fs)	PRPF31 (H202fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865753	NM_015629.4(PRPF31):c.636del (p.Met212fs)	PRPF31 (M212fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 866815	NM_015629.4(PRPF31):c.654C>A (p.Asn218Lys)	PRPF31 (N218K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866410	NM_015629.4(PRPF31):c.682GCC[1] (p.Ala229del)	PRPF31 (A229del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 867096	NM_015629.4(PRPF31):c.698-1G>C	PRPF31	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866370	NM_015629.4(PRPF31):c.698-1G>A	PRPF31	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 866028	NM_015629.4(PRPF31):c.736G>T (p.Ala246Ser)	PRPF31 (A246S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866444	NM_015629.4(PRPF31):c.745A>T (p.Ile249Phe)	PRPF31 (I249F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 865943	NM_015629.4(PRPF31):c.748del (p.Met250fs)	PRPF31 (M250fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865752	NM_015629.4(PRPF31):c.808dup (p.His270fs)	PRPF31 (H270fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866979	NM_015629.4(PRPF31):c.808C>G (p.His270Asp)	PRPF31 (H270D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 449507	NM_015629.4(PRPF31):c.815G>T (p.Gly272Val)	PRPF31 (G272V)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 866478	NM_015629.4(PRPF31):c.821T>G (p.Ile274Ser)	PRPF31 (I274S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866593	NM_015629.4(PRPF31):c.854del (p.Pro285fs)	PRPF31 (P285fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865976	NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)	PRPF31 (C299R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11 +3 more	GPathogenic/Likely pathogenic
Select item 560488	NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)	PRPF31 (R304C)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 866151	NM_015629.4(PRPF31):c.912_914dup (p.Val305dup)	PRPF31	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866209	NM_015629.4(PRPF31):c.946-3C>G	PRPF31	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 866758	NM_015629.4(PRPF31):c.946-2A>G	PRPF31	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866011	NM_015629.4(PRPF31):c.1034C>T (p.Ala345Val)	PRPF31 (A345V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866533	NM_015629.4(PRPF31):c.1040del (p.Leu347fs)	PRPF31 (L347fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866200	NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter)	PRPF31 (Q350*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 193720	NM_015629.4(PRPF31):c.1073+1G>A	PRPF31	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 636224	NM_015629.4(PRPF31):c.1073+5G>A	PRPF31	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 867105	NM_015629.4(PRPF31):c.1073+17G>C	PRPF31	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866997	NM_015629.4(PRPF31):c.1074-15C>G	PRPF31	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 867171	NM_015629.4(PRPF31):c.1084del (p.Lys361_Met362insTer)	PRPF31	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 866083	NM_015629.4(PRPF31):c.1107_1113dup (p.Arg372fs)	PRPF31 (R372fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866822	NM_015629.4(PRPF31):c.1129C>G (p.Arg377Gly)	PRPF31 (R377G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 623966	NM_015629.4(PRPF31):c.1140C>T (p.Phe380=)	PRPF31	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 11 +2 more	GConflicting classifications of pathogenicity
Select item 865799	NM_015629.4(PRPF31):c.1146+1G>A	PRPF31	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866452	NM_015629.4(PRPF31):c.1406dup (p.Lys470fs)	PRPF31 (K470fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866613	NM_015629.4(PRPF31):c.1451C>G (p.Ala484Gly)	PRPF31 (A484G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 47