C0035334[trait identifier] AND "Natera, Inc."[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 873595	NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser)	DHDDS (N18S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
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 283914	NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)	DHDDS (R47Q)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59 +2 more	GConflicting classifications of pathogenicity
Select item 297075	NM_205861.3(DHDDS):c.757G>A (p.Val253Met)	DHDDS (V253M +3 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 645460	NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro)	DHDDS (R264P +4 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59 +2 more	GUncertain significance
Select item 729971	NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)	DHDDS (S264L +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 297079	NM_205861.3(DHDDS):c.990T>C (p.Thr330=)	DHDDS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 188857	NM_000310.4(PPT1):c.541G>A (p.Val181Met)	PPT1 (V181M +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +3 more	GPathogenic/Likely pathogenic
Select item 8900	NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)	PPT1 (T75P)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 13120	NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	RPE65 (R515W)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 467825	NM_000329.3(RPE65):c.1302G>A (p.Ala434=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 98836	NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)	RPE65 (A434V)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
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 98820	NM_000329.3(RPE65):c.1056G>A (p.Glu352=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 298021	NM_000329.3(RPE65):c.975T>G (p.Ile325Met)	RPE65 (I325M)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 92860	NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)	RPE65 (N321K)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 772581	NM_000329.3(RPE65):c.942C>T (p.His314=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 874234	NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)	RPE65 (N301S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GUncertain significance FDA Recognized database
Select item 92859	NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)	RPE65 (K294T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 746140	NM_000329.3(RPE65):c.783G>T (p.Leu261=)	RPE65	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 716567	NM_000329.3(RPE65):c.441A>G (p.Thr147=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 98869	NM_000329.3(RPE65):c.432C>T (p.Tyr144=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 98867	NM_000329.3(RPE65):c.399T>C (p.Leu133=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GBenign FDA Recognized database
Select item 755627	NM_000329.3(RPE65):c.375A>G (p.Gly125=)	RPE65	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 789504	NM_000329.3(RPE65):c.295G>A (p.Val99Ile)	RPE65 (V99I)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 98857	NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	RPE65 (R91Q)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 13115	NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	RPE65 (R91W)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 374497	NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	RPE65 (R44*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98830	NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	RPE65 (G40S)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 437985	NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	RPE65 (P25L)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 98871	NM_000329.3(RPE65):c.48T>C (p.Phe16=)	RPE65	Single nucleotide variant (synonymous variant)	RPE65-related recessive retinopathy	GLikely benign FDA Recognized database
Select item 418147	NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)	CRB1 (C45W)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 195442	NM_201253.3(CRB1):c.600A>G (p.Thr200=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Pigmented paravenous retinochoroidal atrophy +4 more	GConflicting classifications of pathogenicity
Select item 99913	NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	CRB1 (I136fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +6 more	GPathogenic
Select item 99914	NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)	CRB1 (I205T +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +4 more	GConflicting classifications of pathogenicity
Select item 294668	NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)	CRB1 (E222K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 876210	NM_201253.3(CRB1):c.867G>A (p.Thr289=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Pigmented paravenous retinochoroidal atrophy +4 more	GConflicting classifications of pathogenicity
Select item 166957	NM_201253.3(CRB1):c.1533C>T (p.Ala511=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +5 more	GConflicting classifications of pathogenicity
Select item 294672	NM_201253.3(CRB1):c.1752C>T (p.Asp584=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +4 more	GConflicting classifications of pathogenicity
Select item 636015	NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)	CRB1 (Y631C +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 99873	NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu)	CRB1 (Q679E +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +3 more	GUncertain significance
Select item 874427	NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)	CRB1 (R617C +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GConflicting classifications of pathogenicity
Select item 289997	NM_201253.3(CRB1):c.2103C>G (p.Pro701=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 294675	NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser)	CRB1 (F742S +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 5733	NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	CRB1 (T745M +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +5 more	GPathogenic/Likely pathogenic
Select item 99878	NM_201253.3(CRB1):c.2306G>A (p.Arg769His)	CRB1 (R769H +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +6 more	GBenign/Likely benign
Select item 294677	NM_201253.3(CRB1):c.2307C>T (p.Arg769=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 5736	NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	CRB1 (K801* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GPathogenic
Select item 438076	NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)	CRB1 (N880S +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GConflicting classifications of pathogenicity
Select item 294680	NM_201253.3(CRB1):c.2677-8C>T	CRB1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 99888	NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)	CRB1 (C896* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 12 +6 more	GPathogenic
Select item 225327	NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)	CRB1 (R905Q +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +4 more	GConflicting classifications of pathogenicity
Select item 438077	NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)	CRB1 (E947K +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GUncertain significance
Select item 39614	NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	CRB1 (C948Y +2 more)	Single nucleotide variant (missense variant +2 more)	Cone dystrophy +7 more	GPathogenic
Select item 783243	NM_201253.3(CRB1):c.2874C>T (p.Ser958=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +3 more	GConflicting classifications of pathogenicity
Select item 772023	NM_201253.3(CRB1):c.2976A>G (p.Ala992=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 438080	NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)	CRB1 (G1226* +2 more)	Single nucleotide variant (nonsense +2 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GPathogenic
Select item 99906	NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)	CRB1 (R1331H +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +7 more	GBenign/Likely benign
Select item 48464	NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)	USH2A (V5145I)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 143177	NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)	USH2A (P5078R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
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 177913	NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)	USH2A (G4759E)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 438014	NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)	USH2A (R4526*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 48417	NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)	USH2A (P4466S)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 438010	NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)	USH2A (W4376G)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 166435	NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)	USH2A (T4169A)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
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 48396	NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)	USH2A (S4111F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GConflicting classifications of pathogenicity
Select item 198318	NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)	USH2A (Q3959fs)	Microsatellite (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2357	NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	USH2A-related disorder +10 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 209203	NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)	USH2A (E3448K)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 438037	NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)	USH2A (G3320C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 226441	NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)	USH2A (C3307W)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 438035	NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)	USH2A (H3287fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic
Select item 553424	NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)	USH2A (P3272L)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 438033	NM_206933.4(USH2A):c.9571-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +4 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 636128	NM_206933.4(USH2A):c.9056-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +2 more	GPathogenic
Select item 48611	NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	USH2A (W2994*)	Single nucleotide variant (nonsense)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 438029	NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)	USH2A (Q2951E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 48604	NM_206933.4(USH2A):c.8559-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 30722	NM_206933.4(USH2A):c.7595-2144A>G	USH2A	Single nucleotide variant (intron variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 286836	NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)	USH2A (S2492L)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 48581	NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)	USH2A (S2445F)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign 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 209202	NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)	USH2A (G2224C)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GUncertain significance
Select item 48555	NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)	USH2A (K2080N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GBenign/Likely benign
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 939338	NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)	USH2A (A2055T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 236543	NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)	USH2A (C2040G)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 228414	NM_206933.4(USH2A):c.5776+1G>A	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Usher syndrome +6 more	GPathogenic
Select item 48530	NM_206933.4(USH2A):c.5167+4A>G	USH2A, USH2A-AS2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 488733	NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)	USH2A-AS2, USH2A (R1653*)	Single nucleotide variant (non-coding transcript variant +1 more)	Usher syndrome type 2A +3 more	GPathogenic
Select item 438022	NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)	USH2A (D1540N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 48520	NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)	USH2A (K1529I)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GConflicting classifications of pathogenicity
Select item 48518	NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)	USH2A	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +3 more	GConflicting classifications of pathogenicity
Select item 166504	NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	USH2A (R1504fs)	Duplication	Usher syndrome	GPathogenic FDA Recognized database
Select item 295422	NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)	USH2A (T1482I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity

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