Related gene-specific medical variations for Gene (Select 26121) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310357	NM_015629.4(PRPF31):c.271C>G (p.Arg91Gly)	PRPF31, PRPF31-AS1 (R91G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3242699	NC_000019.9:g.(?_54626813)_(54634863_?)del	PRPF31	Deletion	not provided	GPathogenic
Select item 3242698	NC_000019.9:g.(?_54625856)_(54628055_?)del	PRPF31	Deletion	not provided	GPathogenic
Select item 3242696	NC_000019.9:g.(?_54631428)_(54634863_?)del	PRPF31	Deletion	not provided	GPathogenic
Select item 3028514	NM_015629.4(PRPF31):c.347A>G (p.Asp116Gly)	PRPF31, PRPF31-AS1 (D116G)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028513	NM_015629.4(PRPF31):c.310G>T (p.Glu104Ter)	PRPF31, PRPF31-AS1 (E104*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028512	NM_015629.4(PRPF31):c.304G>T (p.Glu102Ter)	PRPF31, PRPF31-AS1 (E102*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028511	NM_015629.4(PRPF31):c.265G>T (p.Glu89Ter)	PRPF31, PRPF31-AS1 (E89*)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3005961	NM_015629.4(PRPF31):c.323-3T>C	PRPF31, PRPF31-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2790094	NM_015629.4(PRPF31):c.389C>T (p.Pro130Leu)	PRPF31, PRPF31-AS1 (P130L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2772738	NM_015629.4(PRPF31):c.323-8T>C	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767324	NM_015629.4(PRPF31):c.351dup (p.Tyr118fs)	PRPF31, PRPF31-AS1 (Y118fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2671740	NM_015629.4(PRPF31):c.239-1G>C	PRPF31, PRPF31-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 2572677	NM_015629.4(PRPF31):c.757G>C (p.Gly253Arg)	PRPF31, PRPF31-AS1 (G253R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112953	NM_015629.4(PRPF31):c.322+2T>G	PRPF31, PRPF31-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2108923	NM_015629.4(PRPF31):c.387C>T (p.Val129=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102710	NM_015629.4(PRPF31):c.259_263del (p.Ala86_Ala87insTer)	PRPF31, PRPF31-AS1	Deletion (nonsense)	not provided	GPathogenic
Select item 2092562	NM_015629.4(PRPF31):c.264_276dup (p.Ile93Ter)	PRPF31, PRPF31-AS1 (I93*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2022788	NM_015629.4(PRPF31):c.321G>A (p.Leu107=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2018542	NM_015629.4(PRPF31):c.409C>T (p.Arg137Cys)	PRPF31, PRPF31-AS1 (R137C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003389	NM_015629.4(PRPF31):c.239-17C>A	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992650	NM_015629.4(PRPF31):c.274G>T (p.Val92Phe)	PRPF31, PRPF31-AS1 (V92F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908037	NM_015629.4(PRPF31):c.351G>A (p.Lys117=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805102	NM_015629.4(PRPF31):c.89C>T (p.Pro30Leu)	PRPF31, PRPF31-AS1 (P30L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11	GUncertain significance
Select item 1670663	NM_015629.4(PRPF31):c.322+20C>T	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1664089	NM_015629.4(PRPF31):c.414G>C (p.Thr138=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656612	NM_015629.4(PRPF31):c.300C>T (p.Thr100=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654810	NM_015629.4(PRPF31):c.315C>T (p.Asn105=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653740	NM_015629.4(PRPF31):c.279C>T (p.Ile93=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648348	NM_015629.4(PRPF31):c.322+15G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1647971	NM_015629.4(PRPF31):c.382T>C (p.Leu128=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1643452	NM_015629.4(PRPF31):c.261G>A (p.Ala87=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642606	NM_015629.4(PRPF31):c.282G>C (p.Val94=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1627311	NM_015629.4(PRPF31):c.323-11G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564840	NM_015629.4(PRPF31):c.420+7G>C	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1556224	NM_015629.4(PRPF31):c.322+14G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1508982	NM_015629.4(PRPF31):c.271C>T (p.Arg91Cys)	PRPF31, PRPF31-AS1 (R91C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1504280	NM_015629.4(PRPF31):c.260C>T (p.Ala87Val)	PRPF31, PRPF31-AS1 (A87V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497713	NM_015629.4(PRPF31):c.272G>A (p.Arg91His)	PRPF31, PRPF31-AS1 (R91H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1490429	NM_015629.4(PRPF31):c.413C>G (p.Thr138Arg)	PRPF31, PRPF31-AS1 (T138R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471282	NM_015629.4(PRPF31):c.239-3C>G	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1471211	NM_015629.4(PRPF31):c.251T>C (p.Val84Ala)	PRPF31, PRPF31-AS1 (V84A)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1459888	NM_015629.4(PRPF31):c.390del (p.Asn131fs)	PRPF31, PRPF31-AS1 (N131fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1459115	NM_015629.4(PRPF31):c.244G>T (p.Gly82Ter)	PRPF31, PRPF31-AS1 (G82*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1459057	NM_015629.4(PRPF31):c.317del (p.Glu106fs)	PRPF31, PRPF31-AS1 (E106fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1452541	NM_015629.4(PRPF31):c.359dup (p.Arg121fs)	PRPF31, PRPF31-AS1 (R121fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1439517	NM_015629.4(PRPF31):c.239-8C>A	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1427971	NM_015629.4(PRPF31):c.274G>A (p.Val92Ile)	PRPF31, PRPF31-AS1 (V92I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1425973	NM_015629.4(PRPF31):c.280G>A (p.Val94Met)	PRPF31, PRPF31-AS1 (V94M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423706	NM_015629.4(PRPF31):c.415del (p.Val139fs)	PRPF31, PRPF31-AS1 (V139fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1392037	NM_015629.4(PRPF31):c.349A>T (p.Lys117Ter)	PRPF31, PRPF31-AS1 (K117*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1387252	NM_015629.4(PRPF31):c.417C>A (p.Val139=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1380627	NM_015629.4(PRPF31):c.256_268del (p.Ala86fs)	PRPF31, PRPF31-AS1 (A86fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1364976	NM_015629.4(PRPF31):c.343del (p.Arg115fs)	PRPF31, PRPF31-AS1 (R115fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1363584	NM_015629.4(PRPF31):c.323-2A>G	PRPF31, PRPF31-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1362598	NM_015629.4(PRPF31):c.247C>G (p.Pro83Ala)	PRPF31, PRPF31-AS1 (P83A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1359371	NM_015629.4(PRPF31):c.323-1G>C	PRPF31, PRPF31-AS1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1358419	NM_015629.4(PRPF31):c.322+16C>T	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1333988	NM_015629.4(PRPF31):c.267del (p.Glu89fs)	PRPF31, PRPF31-AS1 (E89fs)	Deletion (frameshift variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 1299937	NM_015629.4(PRPF31):c.325A>G (p.Ile109Val)	PRPF31, PRPF31-AS1 (I109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275813	NM_015629.4(PRPF31):c.1462_1472del (p.Lys488fs)	PRPF31 (K488fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1275773	NM_015629.4(PRPF31):c.358_359del (p.Lys120fs)	PRPF31, PRPF31-AS1 (K120fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1249839	NM_015629.4(PRPF31):c.323-111C>T	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1184921	NM_015629.4(PRPF31):c.1126_1129dup (p.Arg377fs)	PRPF31 (R377fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1184522	NM_015629.4(PRPF31):c.1374+569C>G	PRPF31	Single nucleotide variant (intron variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 1175950	NM_015629.4(PRPF31):c.414G>A (p.Thr138=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign/Likely benign
Select item 1136597	NM_015629.4(PRPF31):c.309C>T (p.Ile103=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1063020	NM_015629.4(PRPF31):c.392A>G (p.Asn131Ser)	PRPF31, PRPF31-AS1 (N131S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996822	NM_015629.4(PRPF31):c.395del (p.Ala132fs)	PRPF31, PRPF31-AS1 (A132fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 992467	NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter)	PRPF31, PRPF31-AS1 (S47*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 987390	NM_015629.4(PRPF31):c.946-2A>C	PRPF31	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 973368	NM_015629.4(PRPF31):c.245_246del (p.Gly82fs)	PRPF31, PRPF31-AS1 (G82fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 894664	NM_015629.4(PRPF31):c.420+11A>G	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 894663	NM_015629.4(PRPF31):c.239-12G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 893746	NM_015629.4(PRPF31):c.33C>T (p.Leu11=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa	GUncertain significance
Select item 892666	NM_015629.4(PRPF31):c.509C>T (p.Thr170Ile)	PRPF31, PRPF31-AS1 (T170I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 892665	NM_015629.4(PRPF31):c.504C>T (p.Ser168=)	PRPF31, PRPF31-AS1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa	GUncertain significance
Select item 871361	NM_015629.4(PRPF31):c.322+4_322+7del	PRPF31, PRPF31-AS1	Microsatellite (splice donor variant)	not provided	GPathogenic
Select item 867125	NM_015629.4(PRPF31):c.183dup (p.Glu62Ter)	PRPF31 (E62*)	Duplication (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867096	NM_015629.4(PRPF31):c.698-1G>C	PRPF31	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866997	NM_015629.4(PRPF31):c.1074-15C>G	PRPF31	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
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 866815	NM_015629.4(PRPF31):c.654C>A (p.Asn218Lys)	PRPF31 (N218K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866779	NM_015629.4(PRPF31):c.605dup (p.His202fs)	PRPF31 (H202fs)	Duplication (frameshift variant)	Retinal dystrophy	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 866593	NM_015629.4(PRPF31):c.854del (p.Pro285fs)	PRPF31 (P285fs)	Deletion (frameshift 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 866444	NM_015629.4(PRPF31):c.745A>T (p.Ile249Phe)	PRPF31 (I249F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
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 866209	NM_015629.4(PRPF31):c.946-3C>G	PRPF31	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
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 866099	NM_015629.4(PRPF31):c.358_361del (p.Lys120fs)	PRPF31, PRPF31-AS1 (K120fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866083	NM_015629.4(PRPF31):c.1107_1113dup (p.Arg372fs)	PRPF31 (R372fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866039	NM_015629.4(PRPF31):c.-6C>A	PRPF31	Single nucleotide variant (5 prime UTR variant)	Retinal dystrophy	GUncertain significance
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 865943	NM_015629.4(PRPF31):c.748del (p.Met250fs)	PRPF31 (M250fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865799	NM_015629.4(PRPF31):c.1146+1G>A	PRPF31	Single nucleotide variant (splice donor 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 813210	NM_015629.4(PRPF31):c.539C>A (p.Ser180Ter)	PRPF31, PRPF31-AS1 (S180*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 813209	NM_015629.4(PRPF31):c.371_375del (p.Glu124fs)	PRPF31, PRPF31-AS1 (E124fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic

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