C0035334[trait identifier] AND "Sharon lab, Hadassah-Hebrew University - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 247

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30709	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS (K42E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +3 more	GPathogenic
Select item 812306	NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp)	DHDDS (R5W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 812407	NM_000329.3(RPE65):c.722A>T (p.His241Leu)	RPE65 (H241L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 99421	NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)	ABCA4 (G1977S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99390	NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +10 more	GConflicting classifications of pathogenicity
Select item 99375	NM_000350.3(ABCA4):c.5460+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 812199	NM_000350.3(ABCA4):c.5333_5336del (p.Met1778fs)	ABCA4 (M1778fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 99321	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	ABCA4, LOC126805793 (A1598D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +4 more	GPathogenic/Likely pathogenic
Select item 99304	NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	ABCA4 (D1532N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 99292	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	ABCA4 (Q1513fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +9 more	GPathogenic/Likely pathogenic
Select item 236096	NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	ABCA4 (N965S +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic
Select item 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99067	NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	ABCA4 (L541P)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 812193	NM_000350.3(ABCA4):c.[1411G>A;5693G>A]	ABCA4 (E471K +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 3352	NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)	PRPF3 (T494M +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 812295	NM_201253.3(CRB1):c.424G>T (p.Gly142Ter)	CRB1 (G73* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812297	NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro)	CRB1 (L444P +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 812299	NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)	CRB1 (G615V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 812300	NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)	CRB1 (G764D +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 812302	NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly)	CRB1 (R795G +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 812446	NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val)	USH2A (A5048V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 558160	NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)	USH2A (G4857A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 812447	NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)	USH2A (E4784K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2362	NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)	USH2A (R4674G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 812449	NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg)	USH2A (M4535R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 554155	NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)	USH2A (M4447V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 166434	NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)	USH2A (R4192H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +7 more	GConflicting classifications of pathogenicity
Select item 493061	NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)	USH2A (T4150A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 550401	NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr)	USH2A (P4090T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Retinal dystrophy +10 more	GPathogenic
Select item 812451	NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn)	USH2A (S3578N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 197932	NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)	USH2A (C3358Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +5 more	GPathogenic/Likely pathogenic
Select item 48626	NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	USH2A (G3142*)	Single nucleotide variant (nonsense)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 812453	NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn)	USH2A (I3140N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 30722	NM_206933.4(USH2A):c.7595-2144A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome type 2A +6 more	GPathogenic/Likely pathogenic
Select item 384319	NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	USH2A (G2313C)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +5 more	GConflicting classifications of pathogenicity
Select item 166488	NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)	USH2A (P2078R)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 497726	NM_206933.4(USH2A):c.6159del (p.Glu2054fs)	USH2A (E2054fs)	Deletion (frameshift variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 228414	NM_206933.4(USH2A):c.5776+1G>A	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic
Select item 812445	NM_206933.3(USH2A):c.[12448A>G;5012G>A]	USH2A-AS2, USH2A (G1671D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 812456	NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)	USH2A (T1515M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 551604	NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter)	USH2A, USH2A-AS1 (G1392*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 552332	NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)	USH2A, USH2A-AS1 (P1059L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 812457	NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala)	USH2A, USH2A-AS1 (G1029A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 143179	NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	LOC122152296, USH2A (C934W)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 812458	NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)	USH2A (C766R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GPathogenic/Likely pathogenic
Select item 552447	NM_206933.4(USH2A):c.2167+5G>A	USH2A	Single nucleotide variant (intron variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 48472	NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)	USH2A (L555V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 555113	NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)	USH2A (Y494C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 812462	NM_206933.4(USH2A):c.754G>T (p.Gly252Cys)	USH2A (G252C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812463	NM_206933.4(USH2A):c.377del (p.Ser126fs)	USH2A (S126fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812217	NM_021831.6(AGBL5):c.1787_1788del (p.His596fs)	AGBL5 (H596fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 812237	NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)	PCARE (Q1097*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 812238	NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter)	PCARE (R984*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 105	NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)	PCARE (K919fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 812239	NM_001029883.3(PCARE):c.776_777del (p.Glu259fs)	PCARE (E259fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 104	NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)	PCARE (Q186*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 54 +1 more	GPathogenic
Select item 812321	NM_001201543.2(FAM161A):c.1751G>A (p.Arg584Lys)	FAM161A (R584K)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 38	NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)	FAM161A (R523*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 37	NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)	FAM161A (T452fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 812322	NM_001201543.2(FAM161A):c.1321dup (p.His441fs)	FAM161A (H441fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 812431	NM_014014.5(SNRNP200):c.2042G>T (p.Arg681Leu)	SNRNP200 (R681L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 437995	NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)	MERTK (R722*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 2364	NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	CERKL (R257* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 812265	NM_201548.5(CERKL):c.450_451del (p.Ile150fs)	CERKL (I150fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 812266	NM_201548.5(CERKL):c.238+1G>A	CERKL, LOC129935214	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 643636	NM_201548.5(CERKL):c.2T>G (p.Met1Arg)	CERKL, LOC129935215 (M1R)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 812324	NM_144499.3(GNAT1):c.8del (p.Ala3fs)	GNAT1 (A3fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812325	NM_144499.3(GNAT1):c.460G>T (p.Asp154Tyr)	GNAT1 (D154Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 191180	NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter)	IMPG2 (W758*)	Single nucleotide variant (nonsense)	Vitelliform macular dystrophy 5 +1 more	GPathogenic/Likely pathogenic
Select item 3546	NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter)	IMPG2 (S212*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +1 more	GPathogenic
Select item 3550	NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu)	IMPG2 (F124L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 625297	NM_000539.3(RHO):c.53G>A (p.Gly18Asp)	RHO (G18D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GConflicting classifications of pathogenicity
Select item 13037	NM_000539.3(RHO):c.158C>G (p.Pro53Arg)	RHO (P53R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13021	NM_000539.3(RHO):c.266G>A (p.Gly89Asp)	RHO (G89D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GPathogenic
Select item 13028	NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	RHO (R135W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic
Select item 812395	NM_000539.3(RHO):c.497C>T (p.Ala166Val)	RHO (A166V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 13050	NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	RHO (P171S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 196282	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	RHO (E181K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 812396	NM_000539.3(RHO):c.548_638dup (p.Ile214fs)	RHO (I214fs)	Duplication (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812397	NM_000539.3(RHO):c.560G>A (p.Cys187Tyr)	RHO (C187Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 13034	NM_000539.3(RHO):c.800C>T (p.Pro267Leu)	RHO (P267L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +1 more	GPathogenic
Select item 13032	NM_000539.3(RHO):c.1040C>G (p.Pro347Arg)	RHO (P347R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 4392	NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	CLRN1 (Y176* +2 more)	Single nucleotide variant (nonsense)	Usher syndrome type 3 +5 more	GPathogenic/Likely pathogenic
Select item 4395	NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)	CLRN1, CLRN1-AS1 (N48K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 3 +6 more	GPathogenic/Likely pathogenic
Select item 812364	NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter)	P3H2 (R405* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 812370	NM_000283.4(PDE6B):c.428C>A (p.Ala143Asp)	PDE6B (A143D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812371	NM_000283.4(PDE6B):c.1417del (p.Leu473fs)	PDE6B-AS1, PDE6B (L88fs +2 more)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 812372	NM_000283.4(PDE6B):c.1921-9C>G	PDE6B	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 372711	NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	PROM1 (Y443fs +1 more)	Duplication (frameshift variant)	PROM1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 812273	NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys)	LOC101927157, CNGA1 (F613C +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 236443	NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)	CNGA1, LOC101927157 (R583* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 49 +3 more	GPathogenic/Likely pathogenic
Select item 812274	NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg)	CNGA1, LOC101927157 (S421R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16932	NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	CNGA1, LOC101927157 (S389F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic
Select item 242520	NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)	CNGA1, LOC101927157 (R287* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +2 more	GPathogenic
Select item 812275	NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser)	CNGA1, LOC101927157 (I241S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 812276	NM_001379270.1(CNGA1):c.305del (p.Lys102fs)	CNGA1, LOC101927157 (K175fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 548707	NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)	CNGA1, LOC101927157 (R101* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

<< First< Prev

Page of 3