PRPF8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 149146	GRCh38/hg38 17p13.3(chr17:162016-1682817)x3	ABR, ABR-AS1 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 146016	GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3	ABR, BHLHA9 +51 more	Copy number gain	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 892393	NM_006445.4(PRPF8):c.*167A>G	PRPF8	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 892394	NM_006445.4(PRPF8):c.*125G>A	PRPF8	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 892396	NM_006445.4(PRPF8):c.*72C>A	PRPF8	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 892395	NM_006445.4(PRPF8):c.*72C>G	PRPF8	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 892397	NM_006445.4(PRPF8):c.*36C>G	PRPF8	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 321867	NM_006445.4(PRPF8):c.*36C>T	PRPF8	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 2013491	NM_006445.4(PRPF8):c.7003_*27del (p.Ala2335_Ter2336del)	PRPF8	Deletion (stop lost +1 more)	not provided	GUncertain significance
Select item 321868	NM_006445.4(PRPF8):c.*11G>T	PRPF8	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 321869	NM_006445.4(PRPF8):c.*2C>T	PRPF8	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 1066917	NM_006445.4(PRPF8):c.7007G>C (p.Ter2336Ser)	PRPF8	Single nucleotide variant (stop lost)	not provided	GPathogenic
Select item 1114328	NM_006445.4(PRPF8):c.7005C>T (p.Ala2335=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495611	NM_006445.4(PRPF8):c.7002T>G (p.Tyr2334Ter)	PRPF8 (Y2334*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GUncertain significance
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 1154471	NM_006445.4(PRPF8):c.6999G>A (p.Leu2333=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 803295	NM_006445.4(PRPF8):c.6994dup (p.Asp2332fs)	PRPF8 (D2332fs)	Duplication (frameshift variant)	Retinitis pigmentosa 13	GLikely pathogenic
Select item 1918132	NM_006445.4(PRPF8):c.6994G>T (p.Asp2332Tyr)	PRPF8 (D2332Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916436	NM_006445.4(PRPF8):c.6974_6994del (p.Val2325_Glu2331del)	PRPF8	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 1485586	NM_006445.4(PRPF8):c.6991G>T (p.Glu2331Ter)	PRPF8 (E2331*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1346521	NM_006445.4(PRPF8):c.6986_6990dup (p.Glu2331fs)	PRPF8 (E2331fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 949989	NM_006445.4(PRPF8):c.6991del (p.Glu2331fs)	PRPF8 (E2331fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 803296	NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys)	PRPF8 (E2331K)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1004350	NM_006445.4(PRPF8):c.6989G>C (p.Arg2330Pro)	PRPF8 (R2330P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740725	NM_006445.4(PRPF8):c.6984G>A (p.Ala2328=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137868	NM_006445.4(PRPF8):c.6983C>T (p.Ala2328Val)	PRPF8 (A2328V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2018742	NM_006445.4(PRPF8):c.6981T>C (p.Ser2327=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1433653	NM_006445.4(PRPF8):c.6978C>G (p.Tyr2326Ter)	PRPF8 (Y2326*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 13 +1 more	GConflicting classifications of pathogenicity
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)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 1314278	NM_006445.4(PRPF8):c.6968G>A (p.Gly2323Glu)	PRPF8 (G2323E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388434	NM_006445.4(PRPF8):c.6967G>A (p.Gly2323Arg)	PRPF8 (G2323R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065678	NM_006445.4(PRPF8):c.6967G>T (p.Gly2323Trp)	PRPF8 (G2323W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 623916	NM_006445.4(PRPF8):c.6966G>T (p.Glu2322Asp)	PRPF8 (E2322D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3007550	NM_006445.4(PRPF8):c.6962A>T (p.Gln2321Leu)	PRPF8 (Q2321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137869	NM_006445.4(PRPF8):c.6961C>T (p.Gln2321Ter)	PRPF8 (Q2321*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GLikely pathogenic
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 2746009	NM_006445.4(PRPF8):c.6956_6957dup (p.Leu2320fs)	PRPF8 (L2320fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1649048	NM_006445.4(PRPF8):c.6957C>G (p.Leu2319=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1052514	NM_006445.4(PRPF8):c.6955C>T (p.Leu2319Phe)	PRPF8 (L2319F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002345	NM_006445.4(PRPF8):c.6949T>A (p.Phe2317Ile)	PRPF8 (F2317I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838967	NM_006445.4(PRPF8):c.6946_6947dup (p.Asn2316fs)	PRPF8 (N2316fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1124719	NM_006445.4(PRPF8):c.6948C>T (p.Asn2316=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137870	NM_006445.4(PRPF8):c.6942C>A (p.Phe2314Leu)	PRPF8 (F2314L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1066428	NM_006445.4(PRPF8):c.6942C>G (p.Phe2314Leu)	PRPF8 (F2314L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1001079	NM_006445.4(PRPF8):c.6941T>C (p.Phe2314Ser)	PRPF8 (F2314S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2853279	NM_006445.4(PRPF8):c.6939C>T (p.His2313=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444391	NM_006445.4(PRPF8):c.6938A>G (p.His2313Arg)	PRPF8 (H2313R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1931044	NM_006445.4(PRPF8):c.6931C>T (p.Pro2311Ser)	PRPF8 (P2311S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152269	NM_006445.4(PRPF8):c.6930G>T (p.Arg2310Ser)	PRPF8 (R2310S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 30667	NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser)	PRPF8	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 438226	NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly)	PRPF8 (R2310G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1065709	NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu)	PRPF8 (H2309L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13 +1 more	GConflicting classifications of pathogenicity
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 1297107	NM_006445.4(PRPF8):c.6925C>G (p.His2309Asp)	PRPF8 (H2309D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 1490053	NM_006445.4(PRPF8):c.6918C>G (p.His2306Gln)	PRPF8 (H2306Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746101	NM_006445.4(PRPF8):c.6918C>T (p.His2306=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089649	NM_006445.4(PRPF8):c.6912C>A (p.Phe2304Leu)	PRPF8 (F2304L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3359	NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu)	PRPF8 (F2304L)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 987427	NM_006445.4(PRPF8):c.6910T>C (p.Phe2304Leu)	PRPF8 (F2304L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1498152	NM_006445.4(PRPF8):c.6908A>G (p.Glu2303Gly)	PRPF8 (E2303G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828910	NM_006445.4(PRPF8):c.6906A>T (p.Lys2302Asn)	PRPF8 (K2302N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808967	NM_006445.4(PRPF8):c.6906A>C (p.Lys2302Asn)	PRPF8 (K2302N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698943	NM_006445.4(PRPF8):c.6902C>T (p.Pro2301Leu)	PRPF8 (P2301L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 867220	NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser)	PRPF8 (P2301S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3358	NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr)	PRPF8 (P2301T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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