C0035334[trait identifier] AND "Joint Genome Diagnostic Labs from Nijm - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 29870	NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	RPE65 (Y368H)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 283573	NM_000350.3(ABCA4):c.6729+5_6729+19del	ABCA4	Deletion (intron variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +13 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99398	NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	ABCA4 (R1898H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy 3 +7 more	GPathogenic/Likely pathogenic
Select item 99321	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	ABCA4, LOC126805793 (A1598D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 99294	NM_000350.3(ABCA4):c.4539+1G>T	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 99292	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	ABCA4 (Q1513fs)	Duplication (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +10 more	GPathogenic/Likely pathogenic
Select item 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +8 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99505	NM_000350.3(ABCA4):c.768G>T (p.Val256=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related condition +7 more	GPathogenic/Likely pathogenic
Select item 261576	NM_022367.4(SEMA4A):c.1716C>T (p.Pro572=)	SEMA4A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +6 more	GBenign
Select item 96660	NM_201253.3(CRB1):c.71-12A>T	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +4 more	GBenign
Select item 418147	NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)	CRB1 (C45W)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 5738	NM_201253.3(CRB1):c.484G>A (p.Val162Met)	CRB1 (V162M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 874427	NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)	CRB1 (R617C +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 5733	NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	CRB1 (T745M +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +5 more	GPathogenic/Likely pathogenic
Select item 5732	NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	CRB1 (R764C +2 more)	Single nucleotide variant (missense variant +2 more)	CRB1-related maculopathy +9 more	GPathogenic/Likely pathogenic
Select item 39614	NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	CRB1 (C948Y +2 more)	Single nucleotide variant (missense variant +2 more)	CRB1-related disorder +9 more	GPathogenic
Select item 198344	NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	USH2A (T4439I)	Single nucleotide variant (missense variant)	Usher syndrome +4 more	GPathogenic/Likely pathogenic
Select item 438011	NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)	USH2A (T4425M)	Single nucleotide variant (missense variant)	Usher syndrome +2 more	GConflicting classifications of pathogenicity
Select item 281818	NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys)	USH2A (R4192C)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Usher syndrome +11 more	GPathogenic
Select item 143170	NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	USH2A (R3719H)	Single nucleotide variant (missense variant)	Usher syndrome +4 more	GPathogenic/Likely pathogenic
Select item 553424	NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	USH2A (P3272L)	Single nucleotide variant (missense variant)	Usher syndrome +5 more	GPathogenic/Likely pathogenic
Select item 73556	NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)	USH2A (L3145F)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 166479	NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)	USH2A (V2244M)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 636126	NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)	USH2A (G2243V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 560523	NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)	USH2A (P2241L)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 209202	NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)	USH2A (G2224C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +6 more	GUncertain significance
Select item 48555	NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)	USH2A (K2080N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 48518	NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)	USH2A	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 438021	NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)	USH2A, USH2A-AS1 (Q1408*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 48510	NM_206933.4(USH2A):c.3945T>C (p.Asn1315=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 295431	NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)	USH2A-AS1, USH2A (P1178A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 166511	NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)	USH2A, USH2A-AS1 (G1132D)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 48495	NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)	USH2A, USH2A-AS1 (H1041Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 179958	NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)	USH2A, USH2A-AS1 (H1015Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 48487	NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	LOC122152296, USH2A (S841Y)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 2351	NM_206933.4(USH2A):c.2299del (p.Glu767fs)	USH2A (E767fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +23 more	GConflicting classifications of pathogenicity
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 48486	NM_206933.4(USH2A):c.2256T>C (p.His752=)	USH2A	Single nucleotide variant (synonymous variant)	USH2A-related condition +5 more	GBenign/Likely benign
Select item 48483	NM_206933.4(USH2A):c.2109T>C (p.Asp703=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 48481	NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	USH2A (D656N)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 48472	NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)	USH2A (L555V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 48471	NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)	USH2A (C536R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic
Select item 833899	NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)	USH2A (V480A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 48437	NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)	USH2A (E478D)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 48383	NM_206933.4(USH2A):c.1179A>G (p.Gln393=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 48615	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	USH2A (H308fs)	Duplication (frameshift variant)	Retinal degeneration +7 more	GPathogenic
Select item 48564	NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	USH2A (V218E)	Single nucleotide variant (missense variant)	USH2A-related condition +6 more	GConflicting classifications of pathogenicity
Select item 48528	NM_206933.4(USH2A):c.504A>G (p.Thr168=)	USH2A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 295447	NM_206933.4(USH2A):c.486-15C>T	USH2A	Single nucleotide variant (intron variant)	USH2A-related condition +4 more	GConflicting classifications of pathogenicity
Select item 48507	NM_206933.4(USH2A):c.373G>A (p.Ala125Thr)	USH2A (A125T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign
Select item 193145	NM_001029883.3(PCARE):c.2112T>C (p.Asn704=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 54 +4 more	GBenign
Select item 38	NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)	FAM161A (R523*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 552429	NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)	FAM161A (C501fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28 +2 more	GPathogenic/Likely pathogenic
Select item 36	NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)	FAM161A (R437*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 96217	NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 28 +4 more	GBenign
Select item 636112	NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)	SNRNP200 (R681C)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 166844	NM_201548.5(CERKL):c.1506C>T (p.Asp502=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 257149	NM_201548.5(CERKL):c.1133+13T>C	CERKL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 257151	NM_201548.5(CERKL):c.895+3A>G	CERKL	Single nucleotide variant (intron variant)	Retinitis pigmentosa 26 +3 more	GBenign
Select item 2364	NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	CERKL (R257* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 26 +8 more	GPathogenic/Likely pathogenic
Select item 257150	NM_201548.5(CERKL):c.242A>C (p.Asp81Ala)	CERKL (D81A)	Single nucleotide variant (non-coding transcript variant +1 more)	Retinal dystrophy +4 more	GBenign
Select item 166849	NM_201548.5(CERKL):c.156C>T (p.Phe52=)	CERKL	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +4 more	GBenign
Select item 791237	NM_000541.5(SAG):c.31G>A (p.Glu11Lys)	SAG (E11K)	Single nucleotide variant (missense variant)	Oguchi disease +3 more	GConflicting classifications of pathogenicity
Select item 342337	NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=)	IMPG2	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GBenign
Select item 143151	NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)	IMPG2 (R1088*)	Single nucleotide variant (nonsense)	Vitelliform macular dystrophy 5 +2 more	GPathogenic/Likely pathogenic
Select item 95747	NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile)	IMPG2 (T674I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GBenign
Select item 342355	NM_016247.4(IMPG2):c.666+10G>A	IMPG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 256383	NM_000539.3(RHO):c.-26A>G	RHO	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign
Select item 13042	NM_000539.3(RHO):c.44A>G (p.Asn15Ser)	RHO (N15S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 193112	NM_000539.3(RHO):c.360C>T (p.Gly120=)	RHO	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 196282	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	RHO (E181K)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 813212	NM_000539.3(RHO):c.1032G>C (p.Gln344His)	RHO (Q344H)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 4392	NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	CLRN1 (Y176* +2 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 197127	NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)	PDE6B, PDE6B-AS1 (R265Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 13103	NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)	PDE6B, PDE6B-AS1 (Q298* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 438188	NM_000283.4(PDE6B):c.1107+3A>G	PDE6B	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 224742	NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)	PDE6B (N364fs +2 more)	Indel (frameshift variant)	Retinitis pigmentosa 40 +2 more	GPathogenic/Likely pathogenic
Select item 167440	NM_000283.4(PDE6B):c.2193+1G>A	PDE6B	Single nucleotide variant (splice donor variant)	PDE6B-related disorder +6 more	GPathogenic
Select item 349392	NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn)	PDE6B (D776N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 349400	NM_000283.4(PDE6B):c.*12A>G	PDE6B (M559V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 40 +2 more	GBenign
Select item 95334	NM_006017.3(PROM1):c.2374-6T>C	PROM1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 5610	NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	PROM1 (R373C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic
Select item 259907	NM_006017.3(PROM1):c.786G>A (p.Ala262=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +6 more	GBenign
Select item 259906	NM_006017.3(PROM1):c.303+6G>A	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +6 more	GBenign
Select item 16932	NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	CNGA1, LOC101927157 (S389F)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 193099	NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	PDE6A (R102S)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 94128	NM_003322.6(TULP1):c.797G>T (p.Gly266Val)	TULP1 (G266V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 94127	NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)	TULP1 (K261N +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign
Select item 286865	NM_003322.6(TULP1):c.200C>G (p.Thr67Arg)	TULP1 (T67R)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 15 +5 more	GBenign
Select item 356736	NM_002098.6(GUCA1B):c.171T>C (p.Tyr57=)	GUCA1B	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 48 +3 more	GBenign
Select item 167542	NM_000322.5(PRPH2):c.*13C>T	PRPH2	Single nucleotide variant (3 prime UTR variant)	Vitelliform macular dystrophy 3 +8 more	GBenign
Select item 138905	NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)	PRPH2 (R310K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +11 more	GBenign
Select item 138904	NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)	PRPH2 (Q304E)	Single nucleotide variant (missense variant)	Patterned macular dystrophy 1 +10 more	GBenign
Select item 98695	NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)	PRPH2 (P216S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13167	NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	PRPH2 (R172Q)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 13170	NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	PRPH2 (R172W)	Single nucleotide variant (missense variant)	PRPH2-Related Disorders +9 more	GPathogenic/Likely pathogenic

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