"GeneDx"[submitter] AND "RP1L1"[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59332	GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1	BLK, C8orf74 +260 more	Copy number loss	See cases	GPathogenic
Select item 59334	GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1	BLK, C8orf74 +232 more	Copy number loss	See cases	GPathogenic
Select item 161086	GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1	BLK, C8orf74 +205 more	Copy number loss	See cases	GPathogenic
Select item 152312	GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1	LOC129999867, LOC129999868 +198 more	Copy number loss	See cases	GPathogenic
Select item 152872	GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1	C8orf74, CLDN23 +124 more	Copy number loss	See cases	GPathogenic
Select item 59639	GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1	LOC129999836, LOC129999837 +187 more	Copy number loss	See cases	GPathogenic
Select item 58402	GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3	BLK, C8orf74 +72 more	Copy number gain	See cases	GUncertain significance
Select item 361209	NM_178857.6(RP1L1):c.6853G>A (p.Gly2285Arg)	RP1L1 (G2285R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361212	NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361213	NM_178857.6(RP1L1):c.6718G>C (p.Glu2240Gln)	RP1L1 (E2240Q)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GBenign
Select item 361214	NM_178857.6(RP1L1):c.6674C>T (p.Pro2225Leu)	RP1L1 (P2225L)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GBenign
Select item 3252373	NM_178857.6(RP1L1):c.6559G>C (p.Gly2187Arg)	RP1L1 (G2187R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 361222	NM_178857.6(RP1L1):c.6511G>A (p.Glu2171Lys)	RP1L1 (E2171K)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GBenign
Select item 2582053	NM_178857.6(RP1L1):c.5879_6487del (p.Val1960_Glu2162del)	RP1L1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3365292	NM_178857.6(RP1L1):c.6445G>C (p.Glu2149Gln)	RP1L1 (E2149Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306811	NM_178857.6(RP1L1):c.6442G>T (p.Val2148Leu)	RP1L1 (V2148L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424025	NM_178857.6(RP1L1):c.6376C>T (p.Gln2126Ter)	RP1L1 (Q2126*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1302459	NM_178857.6(RP1L1):c.6173C>T (p.Pro2058Leu)	RP1L1 (P2058L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 361235	NM_178857.6(RP1L1):c.5860A>G (p.Thr1954Ala)	RP1L1 (T1954A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 1306813	NM_178857.6(RP1L1):c.5785G>T (p.Gly1929Trp)	RP1L1 (G1929W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 361242	NM_178857.6(RP1L1):c.5666A>T (p.Asp1889Val)	RP1L1 (D1889V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +2 more	GBenign
Select item 620240	NM_178857.6(RP1L1):c.5602C>T (p.Gln1868Ter)	RP1L1 (Q1868*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2571761	NM_178857.6(RP1L1):c.5467G>A (p.Asp1823Asn)	RP1L1 (D1823N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452125	NM_178857.6(RP1L1):c.5308C>T (p.Gln1770Ter)	RP1L1 (Q1770*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1802011	NM_178857.6(RP1L1):c.5294_5301delinsAAGATGAC (p.Gly1765_Ala1767delinsGluAspAsp)	RP1L1	Indel (missense variant)	not provided	GUncertain significance
Select item 424192	NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala)	RP1L1 (G1711A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1310764	NM_178857.6(RP1L1):c.5089A>G (p.Arg1697Gly)	RP1L1 (R1697G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3249025	NM_178857.6(RP1L1):c.4816C>T (p.Arg1606Cys)	RP1L1 (R1606C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254451	NM_178857.6(RP1L1):c.4675G>A (p.Glu1559Lys)	RP1L1 (E1559K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310514	NM_178857.6(RP1L1):c.4631G>A (p.Arg1544His)	RP1L1 (R1544H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 361276	NM_178857.6(RP1L1):c.4484C>G (p.Pro1495Arg)	RP1L1 (P1495R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 1254607	NM_178857.6(RP1L1):c.4360C>T (p.Pro1454Ser)	RP1L1 (P1454S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1302155	NM_178857.6(RP1L1):c.4306T>C (p.Ser1436Pro)	RP1L1 (S1436P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312426	NM_178857.6(RP1L1):c.4177G>A (p.Gly1393Ser)	RP1L1 (G1393S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911192	NM_178857.6(RP1L1):c.4044A>G (p.Gly1348=)	RP1L1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 361291	NM_178857.6(RP1L1):c.4020A>G (p.Glu1340=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy +1 more	GBenign
Select item 361293	NM_178857.6(RP1L1):c.4004G>T (p.Gly1335Val)	RP1L1 (G1335V)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GBenign
Select item 361294	NM_178857.6(RP1L1):c.4003G>A (p.Gly1335Arg)	RP1L1 (G1335R)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GBenign
Select item 1274337	NM_178857.6(RP1L1):c.3983_3984insGGGGACTAAAGTAAT (p.Glu1328_Glu1329insGlyThrLysValIle)	RP1L1	Insertion (inframe_insertion)	not provided	GBenign
Select item 911393	NM_178857.6(RP1L1):c.3983A>T (p.Glu1328Val)	RP1L1 (E1328V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 911394	NM_178857.6(RP1L1):c.3982G>A (p.Glu1328Lys)	RP1L1 (E1328K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 908413	NM_178857.6(RP1L1):c.3980C>T (p.Thr1327Ile)	RP1L1 (T1327I)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GBenign
Select item 908414	NM_178857.6(RP1L1):c.3979A>G (p.Thr1327Ala)	RP1L1 (T1327A)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GBenign
Select item 361296	NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=)	RP1L1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 361300	NM_178857.6(RP1L1):c.3956C>G (p.Ala1319Gly)	RP1L1 (A1319G)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GBenign
Select item 361301	NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr)	RP1L1 (A1319T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 866263	NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala)	RP1L1 (S1199A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3033848	NM_178857.6(RP1L1):c.3457A>C (p.Ile1153Leu)	RP1L1 (I1153L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 361309	NM_178857.6(RP1L1):c.3436C>T (p.Arg1146Trp)	RP1L1 (R1146W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 866349	NM_178857.6(RP1L1):c.3413_3414del (p.Lys1138fs)	RP1L1 (K1138fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1304887	NM_178857.6(RP1L1):c.3322G>A (p.Ala1108Thr)	RP1L1 (A1108T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283503	NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala)	RP1L1 (G1067A)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GUncertain significance
Select item 1801994	NM_178857.6(RP1L1):c.3058C>A (p.Gln1020Lys)	RP1L1 (Q1020K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 361328	NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met)	RP1L1 (L975M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2504383	NM_178857.6(RP1L1):c.2645G>A (p.Arg882Gln)	RP1L1 (R882Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500519	NM_178857.6(RP1L1):c.2579G>T (p.Arg860Leu)	RP1L1 (R860L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 361340	NM_178857.6(RP1L1):c.2578C>T (p.Arg860Trp)	RP1L1 (R860W)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GBenign
Select item 2375374	NM_178857.6(RP1L1):c.2374C>G (p.Leu792Val)	RP1L1 (L792V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3252405	NM_178857.6(RP1L1):c.2332C>T (p.Pro778Ser)	RP1L1 (P778S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313714	NM_178857.6(RP1L1):c.2146T>C (p.Ser716Pro)	RP1L1 (S716P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3253077	NM_178857.6(RP1L1):c.2065C>T (p.Pro689Ser)	RP1L1 (P689S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305427	NM_178857.6(RP1L1):c.2042C>T (p.Ser681Phe)	RP1L1 (S681F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302109	NM_178857.6(RP1L1):c.1937G>C (p.Ser646Thr)	RP1L1 (S646T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 361367	NM_178857.6(RP1L1):c.1791C>T (p.Gly597=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 620550	NM_178857.6(RP1L1):c.1549C>T (p.Gln517Ter)	RP1L1 (Q517*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 361372	NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser)	RP1L1 (G514S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 361379	NM_178857.6(RP1L1):c.1297C>T (p.Arg433Cys)	RP1L1 (R433C)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 865772	NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)	RP1L1 (W369*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 361385	NM_178857.6(RP1L1):c.1090C>G (p.Pro364Ala)	RP1L1 (P364A)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1707738	NM_178857.6(RP1L1):c.1072G>T (p.Val358Phe)	RP1L1 (V358F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699615	NM_178857.6(RP1L1):c.1043C>T (p.Ala348Val)	RP1L1 (A348V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2582089	NM_178857.6(RP1L1):c.1022G>A (p.Arg341Gln)	RP1L1 (R341Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309507	NM_178857.6(RP1L1):c.989A>T (p.His330Leu)	RP1L1 (H330L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1699723	NM_178857.6(RP1L1):c.976A>G (p.Lys326Glu)	RP1L1 (K326E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 911708	NM_178857.6(RP1L1):c.905C>T (p.Pro302Leu)	RP1L1 (P302L)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 96555	NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu)	RP1L1 (S300L)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 361392	NM_178857.6(RP1L1):c.844A>C (p.Asn282His)	RP1L1 (N282H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2500520	NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)	RP1L1 (P268Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502587	NM_178857.6(RP1L1):c.755G>C (p.Ser252Thr)	RP1L1 (S252T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 361399	NM_178857.6(RP1L1):c.665A>C (p.His222Pro)	RP1L1 (H222P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 1374789	NM_178857.6(RP1L1):c.526A>G (p.Arg176Gly)	RP1L1 (R176G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 361408	NM_178857.6(RP1L1):c.487C>G (p.Arg163Gly)	RP1L1 (R163G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1211909	NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln)	RP1L1 (R152Q)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GUncertain significance
Select item 444739	NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile)	RP1L1 (T150I)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GUncertain significance
Select item 3155831	NM_178857.6(RP1L1):c.358C>A (p.Gln120Lys)	RP1L1 (Q120K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 361416	NM_178857.6(RP1L1):c.335C>G (p.Thr112Ser)	RP1L1 (T112S)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GBenign
Select item 624313	NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs)	RP1L1 (K111fs)	Insertion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1722979	NM_178857.6(RP1L1):c.278T>G (p.Leu93Arg)	RP1L1 (L93R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 361422	NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser)	RP1L1 (P73S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909666	NM_178857.6(RP1L1):c.166C>A (p.Arg56Ser)	RP1L1 (R56S)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 453106	NM_178857.6(RP1L1):c.148C>T (p.Arg50Cys)	RP1L1 (R50C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193	NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	RP1L1 (R45W)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2502537	NM_178857.6(RP1L1):c.94C>T (p.Pro32Ser)	RP1L1 (P32S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 733953	NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu)	RP1L1 (P11L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 253963	GRCh37/hg19 8p23.1(chr8:10444735-10828411)x3	PINX1, RP1L1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253407	GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3	DEFB135, DEFB136 +73 more	Copy number gain	See cases	GPathogenic
Select item 3360715	NM_178857.6(RP1L1):c.3979_4026del (p.Thr1327_Lys1342del)	RP1L1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3360456	NM_178857.6(RP1L1):c.4928T>C (p.Leu1643Pro)	RP1L1 (L1643P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 100