ClinVar for MedGen (Select 20551) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366482	NC_000006.11:g.(65532716_65596589)_(65707597_65767506)del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 3340511	NM_006531.5(IFT88):c.1528G>A (p.Ala510Thr)	IFT88 (A299T +7 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 3339116	NC_000006.11:g.(65098734_65146066)_(65149246_65300115)del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 3336632	NM_024876.4(COQ8B):c.566G>A (p.Trp189Ter)	COQ8B (W148* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GLikely pathogenic
Select item 3257711	NM_024876.4(COQ8B):c.1156G>A (p.Asp386Asn)	COQ8B (D345N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 3253467	NM_024876.4(COQ8B):c.1324G>A (p.Val442Met)	COQ8B (V401M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3237370	NM_000440.3(PDE6A):c.1927-1G>C	PDE6A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 3233608	NM_000350.3(ABCA4):c.2055del (p.Thr685_Leu686insTer)	ABCA4	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 3075993	NM_201548.5(CERKL):c.1177C>T (p.Gln393Ter)	CERKL (Q280* +4 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 2691898	NM_015629.4(PRPF31):c.-9+1G>T	PRPF31, PRPF31-AS1 +1 more	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 2675377	NM_001201543.2(FAM161A):c.1044T>A (p.Tyr348Ter)	FAM161A (Y348*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 2674646	NM_000260.4(MYO7A):c.535_536del (p.Ser179fs)	MYO7A (S168fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 2628052	NM_001844.5(COL2A1):c.2162T>C (p.Leu721Pro)	COL2A1 (L652P +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 2628046	NM_130837.3(OPA1):c.1976A>T (p.Glu659Val)	OPA1 (E480V +9 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 2578364	NM_206933.4(USH2A):c.5020A>T (p.Lys1674Ter)	USH2A, USH2A-AS2 (K1674*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 2577523	NM_000440.3(PDE6A):c.2327del (p.Phe776fs)	PDE6A (F695fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2577522	NM_014249.4(NR2E3):c.316AAG[1] (p.Lys107del)	NR2E3 (K107del)	Microsatellite (inframe_deletion)	Retinitis pigmentosa	GLikely pathogenic
Select item 2577519	NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)	MERTK (V737F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2577518	NM_016247.4(IMPG2):c.2771A>G (p.Tyr924Cys)	IMPG2 (Y924C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 2577516	NM_001201543.2(FAM161A):c.1420del (p.Ala474fs)	FAM161A (A474fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 2577515	NM_001142800.2(EYS):c.7228G>A (p.Ala2410Thr)	EYS (A2410T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2577514	NM_001142800.2:c.6425-7585_7056-7439dup	EYS	Duplication	Retinitis pigmentosa	GLikely pathogenic
Select item 2577513	NM_001142800.2(EYS):c.4100C>A (p.Ser1367Ter)	EYS (S1367*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GLikely pathogenic
Select item 2577512	NM_001142800.2:c.2024-5718_2260-10064del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 2577510	NM_001297.5(CNGB1):c.2567_2568del (p.Leu855_Phe856insTer)	CNGB1	Deletion (nonsense)	Retinitis pigmentosa	GLikely pathogenic
Select item 2577509	NM_001297.5:c.1536-3071_2634+31dup	CNGB1	Duplication	Retinitis pigmentosa	GLikely pathogenic
Select item 2577503	NM_012106.4(ARL2BP):c.33_36del (p.Phe13fs)	ARL2BP (F13fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 2577499	NM_003322.6(TULP1):c.415dup (p.Ile139fs)	TULP1 (I139fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2577496	NM_014014.5(SNRNP200):c.3454C>T (p.Arg1152Cys)	SNRNP200 (R1152C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 2577495	NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)	RPGR (G856fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 2577494	NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)	RPGR (K786fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 2577493	NM_001034853.2(RPGR):c.2064del (p.Arg688fs)	RPGR (R688fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 2577492	NM_006915.3(RP2):c.276_277delinsA (p.Phe92fs)	RP2 (F92fs)	Indel (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2577491	NM_006915.3(RP2):c.225del (p.Phe75fs)	RP2 (F75fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2571600	NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs)	PRPF31, PRPF31-AS1 (L219fs)	Duplication (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 2506396	NM_001142800.2(EYS):c.5098A>T (p.Lys1700Ter)	EYS (K1700*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 2501809	NM_000539.3(RHO):c.888G>T (p.Lys296Asn)	RHO (K296N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2501097	NM_201548.5(CERKL):c.1366-2A>G	CERKL	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 26 +1 more	GLikely pathogenic
Select item 2501066	NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)	RLBP1 (R151W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 2429173	NC_000006.11:g.(64709077_64776230)_(64791896_64940484)del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 2203490	NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)	PDE6B (M244R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2136424	NM_001142800.2(EYS):c.9182_9185del (p.Asn3061fs)	EYS, PHF3 (N3061fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic
Select item 2104731	NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)	IFT140 (F533fs)	Insertion (frameshift variant)	Saldino-Mainzer syndrome +1 more	GPathogenic
Select item 1929516	NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)	CYGB, PRCD (S38*)	Duplication (nonsense +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1878380	NM_001242957.3(MAK):c.393dup (p.Leu132fs)	MAK (L132fs +1 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 1806557	NM_001142800.2(EYS):c.7187G>C (p.Cys2396Ser)	EYS (C2396S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1804722	NC_000006.11:g.(10804125_10809042)_(10809176_10813876)del	MAK	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 1804717	NC_000006.11:g.(66094394_66112370)_(66115261_66200486)del	EYS	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 1804716	NC_000006.11:g.(64574252_64694275)_(64791896_64940484)dup	EYS	Duplication	Retinitis pigmentosa	GLikely pathogenic
Select item 1803198	NM_001563.4(IMPG1):c.742A>C (p.Lys248Gln)	IMPG1 (K170Q +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 1723395	NM_014714.4(IFT140):c.1155+1G>A	IFT140, LOC105371046	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 1723321	NM_201548.5(CERKL):c.568del (p.Val190fs)	CERKL (V190fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa +1 more	GLikely pathogenic
Select item 1705201	NM_001201543.2(FAM161A):c.378del (p.Gln127fs)	FAM161A (Q127fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 1704515	NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)	EYS, PHF3 (C2868* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GLikely pathogenic
Select item 1698667	NC_000006.11:g.(65612394_65622376)_(65767621_66005755)del	EYS	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 1698606	NC_000006.11:g.(65707597_65767506)_(65767621_66005755)del	EYS	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 1696172	NC_000006.11:g.(65596736_65612005)_(65655808_65707474)del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 1683285	NC_000006.11:g.(66115261_66200486)_(66205887_66349670)del	EYS	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 1683284	NM_001142800.2(EYS):c.8628dup (p.Thr2877fs)	EYS, PHF3 (T2877fs +1 more)	Duplication (3 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 1681154	NM_177965.4(CFAP418):c.65T>C (p.Leu22Pro)	CFAP418, CFAP418-AS1 +1 more (L22P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681153	NM_177965.4(CFAP418):c.82G>A (p.Glu28Lys)	CFAP418, CFAP418-AS1 +1 more (E28K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681144	NM_177965.4(CFAP418):c.155+20T>G	CFAP418, CFAP418-AS1 +1 more	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1681133	NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe)	CFAP418 (S85F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681128	NM_177965.4(CFAP418):c.331G>A (p.Gly111Arg)	CFAP418 (G111R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681125	NM_177965.4(CFAP418):c.375-16T>A	CFAP418	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1681122	NM_177965.4(CFAP418):c.414G>A (p.Leu138=)	CFAP418	Single nucleotide variant (synonymous variant +1 more)	Bardet-biedl syndrome 21 +3 more	GConflicting classifications of pathogenicity
Select item 1681121	NM_177965.4(CFAP418):c.422G>A (p.Ser141Asn)	CFAP418 (S141N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1681120	NM_177965.4(CFAP418):c.449C>G (p.Ser150Trp)	CFAP418 (S150W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1681117	NM_177965.4(CFAP418):c.530G>A (p.Arg177Gln)	CFAP418 (R145Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681116	NM_177965.4(CFAP418):c.556A>G (p.Arg186Gly)	CFAP418 (R154G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1681114	NM_177965.4(CFAP418):c.602G>C (p.Arg201Pro)	CFAP418 (R169P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1677184	NC_000006.11:g.(65336139_65523270)_(65707597_65767506)del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 1677042	NC_000006.11:g.(64776385_64791748)_(64791896_64940484)del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 1517164	NM_001278293.3(ARL6):c.143T>A (p.Leu48His)	ARL6 (L48H)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 1500117	NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)	EYS, PHF3 (D3028Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1492129	NM_206933.4(USH2A):c.14134-3169A>G	USH2A	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1463164	NM_002900.3(RBP3):c.722A>T (p.Asp241Val)	RBP3 (D241V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1459301	NM_001142800.2(EYS):c.4451G>A (p.Trp1484Ter)	EYS (W1484*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +2 more	GPathogenic
Select item 1454287	NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs)	EYS (C759fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1451640	NM_014336.5(AIPL1):c.276+1G>A	AIPL1	Single nucleotide variant (intron variant +1 more)	Leber congenital amaurosis 4 +1 more	GPathogenic/Likely pathogenic
Select item 1420825	NM_014053.4(FLVCR1):c.1198C>T (p.Gln400Ter)	FLVCR1 (Q400*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +1 more	GPathogenic
Select item 1384730	NM_001142800.2(EYS):c.492_499del (p.Leu165fs)	EYS (L165fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1384035	NM_014336.5(AIPL1):c.1112C>G (p.Ala371Gly)	AIPL1 (A308G +6 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 4 +1 more	GUncertain significance
Select item 1343525	NM_001142800.2(EYS):c.5550_5551del (p.Glu1850fs)	EYS (E1850fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 1343522	NM_001142800.2(EYS):c.5536_5543del (p.Val1846fs)	EYS (V1846fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 1343514	NM_001077620.3(PRCD):c.74+1G>A	CYGB, PRCD	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 1338868	NM_000390.4(CHM):c.703dup (p.Leu235fs)	CHM (L235fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 1333030	NM_000283.4(PDE6B):c.863_864del (p.Asp288fs)	PDE6B-AS1, PDE6B (D288fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa +1 more	GPathogenic
Select item 1325011	NM_006269.2(RP1):c.1986del (p.Lys663fs)	RP1 (K663fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1319009	NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe)	ARL6 (L177F)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 1308275	NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)	CERKL (R106C)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 1300173	NM_001142800.2(EYS):c.2854del (p.Cys952fs)	EYS (C952fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 1297165	NM_004523.4(KIF11):c.2932_2933dup (p.Val978_Glu979insTer)	KIF11	Duplication (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 1297164	NM_015662.3(IFT172):c.3144_3152del (p.Glu1049_His1051del)	IFT172	Deletion (inframe_deletion)	Retinitis pigmentosa	GUncertain significance
Select item 1297163	NM_144499.3(GNAT1):c.508G>T (p.Val170Leu)	GNAT1 (V170L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 1297162	NM_014053.4(FLVCR1):c.806T>C (p.Leu269Pro)	FLVCR1 (L269P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 1297161	NM_014053.4(FLVCR1):c.1026T>C (p.Gly342=)	FLVCR1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa	GUncertain significance
Select item 1297160	NM_001142800.2(EYS):c.3164+1G>A	EYS	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1297159	NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)	EYS (W58*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 1297158	NM_001142800.2(EYS):c.7899-8A>G	EYS	Single nucleotide variant (intron variant)	Retinitis pigmentosa	GUncertain significance

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