C0854723[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 264

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 37134	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	NMNAT1 (E257K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 812758	NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter)	RPE65 (Q362*)	Single nucleotide variant (nonsense)	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 98825	NM_000329.3(RPE65):c.11+5G>A	RPE65	Single nucleotide variant (intron 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 99463	NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	ABCA4 (C2150Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99460	NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	ABCA4 (R2149* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 19 +5 more	GPathogenic
Select item 99452	NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	ABCA4	Single nucleotide variant (synonymous variant)	Age related macular degeneration 2 +6 more	GPathogenic/Likely pathogenic
Select item 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99438	NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	ABCA4 (R2077W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +2 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 438105	NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)	ABCA4 (L2033R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 7907	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4 (R2030* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 417994	NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)	ABCA4 (K1978E +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99419	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Deletion (nonsense +1 more)	Severe early-childhood-onset retinal dystrophy +5 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 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder +7 more	GPathogenic/Likely pathogenic
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 438101	NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter)	ABCA4 (W1772* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 438100	NM_000350.3(ABCA4):c.5196+1137G>A	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99349	NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)	ABCA4 (T1721fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
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 99338	NM_000350.3(ABCA4):c.5018+2T>C	ABCA4, LOC126805793	Single nucleotide variant (splice donor variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99331	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4, LOC126805793 (R1640Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99330	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	ABCA4, LOC126805793 (R1640W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +6 more	GPathogenic/Likely pathogenic; other
Select item 166616	NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	ABCA4, LOC126805793 (G1591R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 99311	NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	ABCA4, LOC126805793 (I1562T +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +7 more	GConflicting classifications of pathogenicity
Select item 99303	NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	ABCA4 (T1526M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99293	NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)	ABCA4 (Q1513R +1 more)	Single nucleotide variant (missense variant)	not provided +2 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 438096	NM_000350.3(ABCA4):c.4537del (p.Gln1513fs)	ABCA4 (Q1513fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 236115	NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	ABCA4 (G1507R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99288	NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	ABCA4 (C1490Y +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 377404	NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)	ABCA4 (C1455R +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +2 more	GPathogenic/Likely pathogenic
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 99267	NM_000350.3(ABCA4):c.4253+5G>T	ABCA4	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 7904	NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	ABCA4 (P1380L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
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 99218	NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter)	ABCA4 (W1101* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 438094	NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn)	ABCA4 (I1100N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 372290	NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	ABCA4 (S1071fs)	Duplication (frameshift variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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 99182	NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)	ABCA4 (G991R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 99180	NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)	ABCA4 (V989A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 438091	NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)	ABCA4 (F938S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
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 99143	NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)	ABCA4 (A854T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99114	NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	ABCA4 (R681*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 288341	NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)	ABCA4 (V675I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 438090	NM_000350.3(ABCA4):c.1984dup (p.Ala662fs)	ABCA4 (A662fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 265012	NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)	ABCA4 (Q636*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic
Select item 99087	NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)	ABCA4 (G607R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 99062	NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)	ABCA4 (R537C)	Single nucleotide variant (missense variant)	not provided +2 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 283387	NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)	ABCA4 (R511H)	Single nucleotide variant (missense variant)	Stargardt Disease, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 438087	NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter)	ABCA4 (W499*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 99045	NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)	ABCA4 (S445R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 438086	NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)	ABCA4 (Y340H)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 99513	NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)	ABCA4 (P309R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 438109	NM_000350.3(ABCA4):c.885del (p.Leu296fs)	ABCA4 (L296fs)	Deletion (frameshift variant)	Retinitis pigmentosa 19 +2 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 438107	NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter)	ABCA4 (Q238*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 99471	NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)	ABCA4 (R220C)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 438075	NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr)	CRB1 (C85Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 96659	NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	CRB1	Deletion (inframe_deletion +1 more)	Autosomal recessive bestrophinopathy +9 more	GPathogenic/Likely pathogenic
Select item 236477	NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg)	CRB1 (C336R +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GConflicting classifications of pathogenicity
Select item 438069	NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)	CRB1 (E395* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +3 more	GConflicting classifications of pathogenicity
Select item 438071	NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala)	CRB1 (E571A +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 73455	NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)	CRB1 (S638L +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic/Likely pathogenic
Select item 438073	NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	CRB1 (E710V +2 more)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +4 more	GPathogenic/Likely pathogenic
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 438078	NM_201253.3(CRB1):c.2842+5G>A	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +2 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 +7 more	GPathogenic
Select item 438079	NM_201253.3(CRB1):c.3542dup (p.Cys1181fs)	CRB1 (C1069fs +2 more)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
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 166428	NM_206933.4(USH2A):c.13374del (p.Glu4458fs)	USH2A (E4458fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +3 more	GPathogenic
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 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 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 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 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 48352	NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)	USH2A (W3521R)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 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 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 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 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 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 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 48597	NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)	USH2A (A2774T)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 197447	NM_206933.4(USH2A):c.7595-3C>G	USH2A	Single nucleotide variant (intron variant)	Retinitis pigmentosa 39 +3 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 3