C0035334[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 283573	NM_000350.3(ABCA4):c.6729+5_6729+19del	ABCA4	Deletion (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 7884	NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	ABCA4 (V2050L +1 more)	Single nucleotide variant (missense variant)	not specified +12 more	GConflicting classifications of pathogenicity
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 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 99371	NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	ABCA4 (A1794D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 438098	NM_000350.3(ABCA4):c.5018+5G>A	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided +1 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 236110	NM_000350.3(ABCA4):c.4253+5G>A	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic
Select item 30218	NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	ABCA4 (E1122K +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 99174	NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	ABCA4 (T972N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 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)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99084	NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4 (R602W)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +8 more	GPathogenic/Likely pathogenic
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 438088	NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter)	ABCA4 (C519*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 99505	NM_000350.3(ABCA4):c.768G>T (p.Val256=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 99122	NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)	ABCA4 (C75G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 438070	NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr)	CRB1 (I558T +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 438072	NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu)	CRB1 (K673E +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
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 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 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)	CRB1-related disorder +7 more	GPathogenic
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 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 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 438257	Single allele	USH2A	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 438014	NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)	USH2A (R4526*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +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 438013	NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu)	USH2A	Indel (inframe_indel)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 438012	NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu)	USH2A (P4444L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 198344	NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)	USH2A (T4439I)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 438011	NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met)	USH2A (T4425M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GConflicting classifications of pathogenicity
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 48409	NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp)	USH2A (N4292D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic FDA Recognized database
Select item 438007	NM_206933.4(USH2A):c.12695C>A (p.Pro4232Gln)	USH2A (P4232Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
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 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 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 229616	NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr)	USH2A (A4049T)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +5 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)	Retinal dystrophy +10 more	GPathogenic
Select item 438005	NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter)	USH2A (Y3900*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 438003	NM_206933.4(USH2A):c.11507C>T (p.Pro3836Leu)	USH2A (P3836L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 143170	NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)	USH2A (R3719H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +4 more	GPathogenic/Likely pathogenic
Select item 225512	NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)	USH2A (T3667P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
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 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 438038	NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)	USH2A (Q3326*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +2 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 438036	NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)	USH2A (C3294W)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
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 438034	NM_206933.4(USH2A):c.9785G>T (p.Gly3262Val)	USH2A (G3262V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely 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 438259	NM_206933.4(USH2A):c.9259-503_9371+1650del	USH2A	Deletion (splice acceptor variant +1 more)	Retinitis pigmentosa	GLikely pathogenic
Select item 48611	NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)	USH2A (W2994*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 438030	NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)	USH2A (L2962I)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
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 48601	NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)	USH2A (P2811T)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 438028	NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)	USH2A (P2762A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 438027	NM_206933.4(USH2A):c.8223+1G>C	USH2A	Single nucleotide variant (splice donor 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 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 438025	NM_206933.4(USH2A):c.7358T>A (p.Val2453Asp)	USH2A (V2453D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
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 224753	NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln)	USH2A (P2149Q)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
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 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 438024	NM_206933.4(USH2A):c.6050-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 179773	NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)	USH2A-AS2, USH2A (G1671D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic FDA Recognized database
Select item 438261	Single allele	USH2A, USH2A-AS2	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 48521	NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe)	USH2A (L1572F)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 438022	NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)	USH2A (D1540N)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 166504	NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)	USH2A (R1504fs)	Duplication	Usher syndrome	GPathogenic FDA Recognized database
Select item 438021	NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)	USH2A, USH2A-AS1 (Q1408*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +5 more	GPathogenic
Select item 438020	NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)	USH2A, USH2A-AS1 (N1343H)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 48509	NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)	USH2A, USH2A-AS1 (G1301V)	Single nucleotide variant	Usher syndrome	GBenign FDA Recognized database
Select item 166511	NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)	USH2A-AS1, USH2A (G1132D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
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 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)	Retinal dystrophy +22 more	GPathogenic
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 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 438032	NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)	USH2A (P309L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 48615	NM_206933.4(USH2A):c.920_923dup (p.His308fs)	USH2A (H308fs)	Duplication (frameshift variant)	Retinal dystrophy +7 more	GPathogenic
Select item 48564	NM_206933.4(USH2A):c.653T>A (p.Val218Glu)	USH2A (V218E)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 438000	NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)	USH2A (R34*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +3 more	GPathogenic/Likely pathogenic
Select item 438048	NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	PCARE (W1001*)	Single nucleotide variant (nonsense)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 438167	NM_001201543.2(FAM161A):c.782del (p.Asp261fs)	FAM161A (D261fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 438166	NM_001201543.2(FAM161A):c.678_681del (p.Lys227fs)	FAM161A (K227fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 28	GPathogenic
Select item 7928	NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)	SNRNP200 (S1087L)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 438244	Single allele	LOC112806037, LOC129934573 +1 more	Deletion	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 437996	NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly)	MERTK (R727G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 236454	NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln)	MERTK (R727Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 438234	Single allele	CERKL, ITGA4 +13 more	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 438052	NM_201548.5(CERKL):c.1073+3_1073+6del	CERKL	Microsatellite (splice donor variant)	Retinitis pigmentosa 26 +1 more	GPathogenic/Likely pathogenic

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