ClinVar for MedGen (Select 325055) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383001	NM_015629.4(PRPF31):c.1066G>A (p.Gly356Ser)	PRPF31 (G356S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11	GUncertain significance
Select item 3382366	NM_015629.4(PRPF31):c.420+1G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa 11	GPathogenic
Select item 3377299	NM_015629.4(PRPF31):c.850C>T (p.Pro284Ser)	PRPF31 (P284S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11	GUncertain significance
Select item 3256694	NM_015629.4(PRPF31):c.549_550insGCCTCCAG (p.Leu184fs)	PRPF31 (L184fs)	Insertion (frameshift variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 3236217	NM_015629.4(PRPF31):c.845_855+1del	PRPF31	Deletion (splice donor variant)	Retinitis pigmentosa 11	GPathogenic
Select item 3235232	NM_015629.4(PRPF31):c.1A>G (p.Met1Val)	PRPF31 (M1V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 11	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 2628063	NM_015629.4(PRPF31):c.946-344C>T	PRPF31	Single nucleotide variant (intron variant)	Retinitis pigmentosa 11	GUncertain significance
Select item 2579246	GRCh38/hg38 19q13.42(chr19:54109954-54115802)x1	PRPF31, TFPT	Copy number loss	Retinitis pigmentosa 11	GUncertain significance
Select item 2579242	GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1	NDUFA3, PRPF31 +2 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2579241	GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1	NDUFA3, PRPF31 +2 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2579240	GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1	PRPF31, PRPF31-AS1 +1 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2579239	GRCh38/hg38 19q13.42(chr19:54121739-54131817)x1	PRPF31, PRPF31-AS1	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2579238	GRCh38/hg38 19q13.42(chr19:54121739-54129468)x1	PRPF31, PRPF31-AS1	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2500259	NM_015629.4(PRPF31):c.1074-1G>C	PRPF31	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 11	GLikely pathogenic
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 1686099	NM_015629.4(PRPF31):c.205del (p.Glu69fs)	PRPF31 (E69fs)	Deletion (frameshift variant)	Retinitis pigmentosa 11	GPathogenic
Select item 1684627	NM_015629.4(PRPF31):c.945+2T>G	PRPF31	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 1471211	NM_015629.4(PRPF31):c.251T>C (p.Val84Ala)	PRPF31, PRPF31-AS1 (V84A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11 +2 more	GConflicting classifications of pathogenicity
Select item 1462216	NM_015629.4(PRPF31):c.528G>A (p.Gly176=)	PRPF31	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1456317	NM_015629.4(PRPF31):c.528-39_531del	PRPF31	Deletion (splice acceptor variant)	not provided	GPathogenic
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 1297104	NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter)	PRPF31, PRPF31-AS1 (Q389*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 11 +2 more	GPathogenic/Likely pathogenic
Select item 1213884	NM_015629.4(PRPF31):c.1268C>T (p.Thr423Met)	PRPF31 (T423M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1213883	NM_015629.4(PRPF31):c.-9+1G>A	PRPF31	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 11	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 1172723	NM_015629.4(PRPF31):c.176del (p.Met59fs)	PRPF31 (M59fs)	Deletion (frameshift variant)	Retinitis pigmentosa 11	GPathogenic
Select item 1065790	NM_015629.4(PRPF31):c.855+5G>A	PRPF31	Single nucleotide variant (intron variant)	Retinitis pigmentosa 11 +1 more	GConflicting classifications of pathogenicity
Select item 1065764	NM_015629.4(PRPF31):c.66_79dup (p.Glu27fs)	PRPF31 (E27fs)	Duplication (frameshift variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 1065739	NM_015629.4(PRPF31):c.1276-2del	PRPF31	Deletion (splice acceptor variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 1065713	NM_015629.4(PRPF31):c.238+1_238+7del	PRPF31	Deletion (splice donor variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 1065711	NM_015629.4(PRPF31):c.633del (p.Met212fs)	PRPF31 (M212fs)	Deletion (frameshift variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 1065676	NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter)	PRPF31 (Q175*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1065660	NM_015629.4(PRPF31):c.893A>G (p.Lys298Arg)	PRPF31 (K298R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11	GUncertain significance
Select item 1065654	NM_015629.4(PRPF31):c.1212_1221del (p.Val407fs)	PRPF31 (V407fs)	Deletion (frameshift variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 1065653	NM_015629.4(PRPF31):c.136del (p.Asp46fs)	PRPF31 (D46fs)	Deletion (frameshift variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 1065652	NM_015629.4(PRPF31):c.541_551GAG[3]CTCCGAGGAGGAGCT[1] (p.Glu185fs)	PRPF31 (E185fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 11	GLikely pathogenic
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 987444	NM_015629.4(PRPF31):c.1146+2T>G	PRPF31	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 11 +1 more	GConflicting classifications of pathogenicity
Select item 931178	NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg)	PRPF31 (G253R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 866200	NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter)	PRPF31 (Q350*)	Single nucleotide variant (nonsense)	Retinal dystrophy +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 865976	NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)	PRPF31 (C299R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 829897	NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs)	PRPF31 (I371fs)	Deletion (frameshift variant)	Retinitis pigmentosa 11	GLikely pathogenic
Select item 811919	NM_015629.4(PRPF31):c.935C>T (p.Thr312Ile)	PRPF31 (T312I)	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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 599085	GRCh37/hg19 19q13.42(chr19:54618744-54622073)x1	PRPF31, TFPT	Copy number loss	Retinitis pigmentosa 11	GPathogenic
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 560487	NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter)	PRPF31 (Q431*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 546035	NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter)	PRPF31 (W331*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 11 +2 more	GPathogenic/Likely pathogenic
Select item 522515	NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg)	PRPF31 (P336R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11	GUncertain significance
Select item 500443	NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln)	PRPF31 (R211Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11 +1 more	GUncertain significance
Select item 444485	NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs)	PRPF31, PRPF31-AS1 (A302fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 330111	NM_015629.4(PRPF31):c.1467C>T (p.Val489=)	PRPF31	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign
Select item 330107	NM_015629.4(PRPF31):c.1230A>G (p.Thr410=)	PRPF31	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign
Select item 330100	NM_015629.4(PRPF31):c.735C>T (p.Pro245=)	PRPF31	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign
Select item 330097	NM_015629.4(PRPF31):c.420+7G>A	PRPF31, PRPF31-AS1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 11 +2 more	GBenign/Likely benign
Select item 224758	NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter)	PRPF31 (Q374*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 198220	NM_015629.4(PRPF31):c.527+9G>T	PRPF31	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167537	NM_015629.4(PRPF31):c.1147-9=	PRPF31	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 4366	NM_015629.4(PRPF31):c.1374+654C>G	PRPF31	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 4365	NM_015629.4(PRPF31):c.332_343del (p.His111_Ile114del)	PRPF31, PRPF31-AS1	Deletion (inframe_deletion)	Retinitis pigmentosa 11	GPathogenic
Select item 4364	NM_015629.4(PRPF31):c.770dup (p.Thr258fs)	PRPF31, PRPF31-AS1 (T258fs)	Duplication (frameshift variant)	Retinitis pigmentosa 11	GPathogenic
Select item 4363	NM_015629.4(PRPF31):c.548_580dup (p.Met193_Ala194insGluLeuGluArgLeuGluGluAlaCysAspMet)	PRPF31	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 4362	NM_015629.4(PRPF31):c.581C>A (p.Ala194Glu)	PRPF31, PRPF31-AS1 (A194E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11	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 4359	NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro)	PRPF31, PRPF31-AS1 (A216P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 11	GPathogenic
Select item 4358	NM_015629.4(PRPF31):c.1115_1125del (p.Arg372fs)	PRPF31 (R372fs)	Deletion (frameshift variant)	Retinitis pigmentosa 11	GPathogenic

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Items: 70