ClinVar for MedGen (Select 325486) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235734	NM_006445.4(PRPF8):c.4367C>T (p.Thr1456Ile)	PRPF8 (T1456I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GLikely pathogenic
Select item 3234022	NM_006445.4(PRPF8):c.5243G>A (p.Arg1748His)	PRPF8 (R1748H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 3067921	NM_006445.4(PRPF8):c.4338+2T>C	PRPF8	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 13	GLikely pathogenic
Select item 2689830	NM_006445.4(PRPF8):c.6062A>T (p.Gln2021Leu)	PRPF8 (Q2021L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 2628073	NM_006445.4(PRPF8):c.2140A>G (p.Ser714Gly)	PRPF8 (S714G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 2628050	NM_006445.4(PRPF8):c.914G>T (p.Arg305Leu)	PRPF8 (R305L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 2435260	NM_006445.4(PRPF8):c.3166C>T (p.His1056Tyr)	PRPF8 (H1056Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	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 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 1430048	NM_006445.4(PRPF8):c.654-5C>T	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 13 +1 more	GConflicting classifications of pathogenicity
Select item 1213887	NM_006445.4(PRPF8):c.1684G>A (p.Val562Met)	PRPF8 (V562M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 1213886	NM_006445.4(PRPF8):c.6837G>T (p.Trp2279Cys)	PRPF8 (W2279C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 1213885	NM_006445.4(PRPF8):c.6466A>C (p.Thr2156Pro)	PRPF8 (T2156P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 1168313	NM_006445.4(PRPF8):c.603C>T (p.Ala201=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1108824	NM_006445.4(PRPF8):c.1985-6dup	PRPF8	Duplication (intron variant)	Retinitis pigmentosa 13 +1 more	GLikely benign
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 1065692	NM_006445.4(PRPF8):c.3368A>G (p.Glu1123Gly)	PRPF8 (E1123G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	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 1034482	NM_006445.4(PRPF8):c.5377-1G>T	PRPF8	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 978991	NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser)	CRB1 (F376S +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 965683	NM_006445.4(PRPF8):c.6838A>G (p.Asn2280Asp)	PRPF8 (N2280D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13 +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 931934	NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val)	PRPF8 (A403V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 930837	NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu)	PRPF8 (R35L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 930664	NM_006445.4(PRPF8):c.239del (p.Lys80fs)	PRPF8 (K80fs)	Deletion (frameshift variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 930404	NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser)	PRPF8 (N270S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	GUncertain significance
Select item 889760	NM_006445.4(PRPF8):c.3447-12C>T	PRPF8	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 889127	NM_006445.4(PRPF8):c.1719+4A>G	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 13 +2 more	GUncertain significance
Select item 812057	NM_006445.4(PRPF8):c.6504C>T (p.Tyr2168=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 13	GLikely benign
Select item 811808	NM_006445.4(PRPF8):c.6108A>G (p.Gln2036=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GBenign/Likely benign
Select item 811191	NM_006445.4(PRPF8):c.4202+19A>G	PRPF8	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 811188	NM_006445.4(PRPF8):c.1099-8T>C	PRPF8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 810992	NM_006445.4(PRPF8):c.690C>T (p.Phe230=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 810962	NM_006445.4(PRPF8):c.434+18A>C	PRPF8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 803295	NM_006445.4(PRPF8):c.6994dup (p.Asp2332fs)	PRPF8 (D2332fs)	Duplication (frameshift variant)	Retinitis pigmentosa 13	GLikely pathogenic
Select item 546782	NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His)	PRPF8 (R1935H)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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 425117	NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs)	PRPF8 (E2324fs)	Duplication (frameshift variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 374176	NM_006445.4(PRPF8):c.926G>A (p.Arg309His)	PRPF8 (R309H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 321919	NM_006445.4(PRPF8):c.435-6T>G	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 13 +2 more	GBenign
Select item 321910	NM_006445.4(PRPF8):c.1290-10A>G	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GBenign
Select item 321908	NM_006445.4(PRPF8):c.1855-13C>T	PRPF8	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 321903	NM_006445.4(PRPF8):c.2493C>G (p.Ser831=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 321901	NM_006445.4(PRPF8):c.2631G>A (p.Ala877=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 321897	NM_006445.4(PRPF8):c.2873-13T>C	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 13 +2 more	GBenign
Select item 321893	NM_006445.4(PRPF8):c.3299+14T>C	PRPF8	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 321886	NM_006445.4(PRPF8):c.4011A>G (p.Gln1337=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign
Select item 321879	NM_006445.4(PRPF8):c.5469C>T (p.His1823=)	PRPF8	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 13 +2 more	GBenign/Likely benign
Select item 321876	NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=)	PRPF8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 321870	NM_006445.4(PRPF8):c.6854-4G>A	PRPF8	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 197012	NM_006445.4(PRPF8):c.5794-3C>G	PRPF8	Single nucleotide variant (intron variant)	Retinitis pigmentosa 13 +1 more	GUncertain significance
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 30667	NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser)	PRPF8	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 30666	NM_006445.4(PRPF8):c.6353C>T (p.Ser2118Phe)	PRPF8 (S2118F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 13	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 3358	NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr)	PRPF8 (P2301T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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

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Items: 60