C0854723[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 867140	NM_015102.5(NPHP4):c.3718T>C (p.Cys1240Arg)	NPHP4 (C727R +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 835062	NM_015102.5(NPHP4):c.3704G>A (p.Arg1235His)	NPHP4 (R1235H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 867163	NM_015102.5(NPHP4):c.3644+1G>A	NPHP4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 501425	NM_015102.5(NPHP4):c.3364A>C (p.Thr1122Pro)	NPHP4 (T1122P +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GConflicting classifications of pathogenicity
Select item 867139	NM_015102.5(NPHP4):c.2444dup (p.Val816fs)	NPHP4 (V304fs +2 more)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 297830	NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu)	NPHP4 (P86L)	Single nucleotide variant (5 prime UTR variant +3 more)	Senior-Loken syndrome 4 +6 more	GUncertain significance
Select item 695555	NM_015102.5(NPHP4):c.7G>T (p.Asp3Tyr)	NPHP4 (D3Y)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis 4 +3 more	GConflicting classifications of pathogenicity
Select item 865932	NM_022787.4(NMNAT1):c.-71G>C	LOC126805613, NMNAT1	Single nucleotide variant (5 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 195375	NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)	NMNAT1 (A13T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 190977	NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser)	NMNAT1 (N18S)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +1 more	GPathogenic
Select item 866962	NM_022787.4(NMNAT1):c.104T>C (p.Met35Thr)	NMNAT1 (M35T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 866255	NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)	NMNAT1 (V98G)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis +3 more	GPathogenic/Likely pathogenic
Select item 813196	NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln)	NMNAT1 (R227Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +2 more	GConflicting classifications of pathogenicity
Select item 845745	NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)	NMNAT1 (R237C)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +1 more	GPathogenic/Likely pathogenic
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 297484	NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	MMACHC (Y130C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 750796	NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	RPE65 (D477G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 20 +5 more	GPathogenic/Likely pathogenic
Select item 866422	NM_000329.3(RPE65):c.1309C>T (p.Leu437Phe)	RPE65 (L437F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 98835	NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)	RPE65 (E417Q)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 660359	NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	RPE65 (W402*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 866183	NM_000329.3(RPE65):c.1150G>T (p.Val384Phe)	RPE65 (V384F)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 596673	NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	RPE65 (N356fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 865841	NM_000329.3(RPE65):c.1040G>A (p.Arg347His)	RPE65 (R347H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 98902	NM_000329.3(RPE65):c.962dup (p.Asn321fs)	RPE65 (N321fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 372493	NM_000329.3(RPE65):c.893del (p.Lys298fs)	RPE65 (K298fs)	Deletion (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 829832	NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)	RPE65 (I206T)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GLikely pathogenic
Select item 866507	NM_000329.3(RPE65):c.331C>A (p.Pro111Thr)	RPE65 (P111T)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 865946	NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)	RPE65 (T101I)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
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 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 865838	NM_000329.3(RPE65):c.113T>G (p.Leu38Arg)	RPE65 (L38R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 98899	NM_000329.3(RPE65):c.95-2A>T	RPE65	Single nucleotide variant (splice acceptor variant +1 more)	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 98877	NM_000329.3(RPE65):c.57_58del (p.Glu20fs)	RPE65 (E20fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
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 866510	NM_000350.3(ABCA4):c.6817-2A>G	ABCA4	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866026	NM_000350.3(ABCA4):c.6806G>A (p.Arg2269Gln)	ABCA4 (R2269Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 99487	NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	ABCA4 (L2241V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 866115	NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)	ABCA4 (T2240A +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 99481	NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)	ABCA4 (L2229P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 867162	NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866383	NM_000350.3(ABCA4):c.6510dup (p.Ile2171fs)	ABCA4 (I2171fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 377410	NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 865847	NM_000350.3(ABCA4):c.6494A>G (p.Tyr2165Cys)	ABCA4 (Y2165C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866940	NM_000350.3(ABCA4):c.6455G>T (p.Gly2152Val)	ABCA4 (G2152V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 374182	NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile)	ABCA4 (M2151I +1 more)	Single nucleotide variant (missense variant)	Visual impairment +3 more	GUncertain significance
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 99457	NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)	ABCA4 (E2131K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 635989	NM_000350.3(ABCA4):c.6386+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 866942	NM_000350.3(ABCA4):c.6380C>T (p.Ser2127Phe)	ABCA4 (S2127F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 635988	NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)	ABCA4 (R2107C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 377409	NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)	ABCA4 (R2106H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99447	NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)	ABCA4 (R2106C +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 843110	NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)	ABCA4 (E2096K +1 more)	Inversion (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866171	NM_000350.3(ABCA4):c.6282+9G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 855992	NM_000350.3(ABCA4):c.6250G>A (p.Ala2084Thr)	ABCA4 (A2084T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 99439	NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)	ABCA4 (S2080fs)	Microsatellite (frameshift variant)	not provided +2 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 99437	NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly)	ABCA4 (R2077G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 689736	NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)	ABCA4 (G2074V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 866298	NM_000350.3(ABCA4):c.6213C>G (p.Tyr2071Ter)	ABCA4 (Y2071* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867176	NM_000350.3(ABCA4):c.6208_6209delinsCA (p.Thr2070Gln)	ABCA4 (T2070Q +1 more)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 865907	NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val)	ABCA4 (A2064V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99432	NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter)	ABCA4 (K2056* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +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 143076	NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	ABCA4 (R2040Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99431	NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	ABCA4 (R2040* +1 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 99430	NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)	ABCA4 (R2038W +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic
Select item 866865	NM_000350.3(ABCA4):c.6110C>T (p.Ala2037Val)	ABCA4 (A2037V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867188	NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg)	ABCA4 (H2032R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 866474	NM_000350.3(ABCA4):c.6094C>T (p.His2032Tyr)	ABCA4 (H2032Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866538	NM_000350.3(ABCA4):c.6091G>A (p.Glu2031Lys)	ABCA4 (E2031K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 99428	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4 (R2030Q +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +6 more	GPathogenic/Likely pathogenic
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 7882	NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	ABCA4 (L2027F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 865769	NM_000350.3(ABCA4):c.6005+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 99425	NM_000350.3(ABCA4):c.6005+1G>T	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 835388	NM_000350.3(ABCA4):c.5992G>A (p.Val1998Ile)	ABCA4 (V1998I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866385	NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg)	ABCA4 (M1984R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 806158	NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala)	ABCA4 (T1979A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 867115	NM_000350.3(ABCA4):c.5929G>C (p.Gly1977Arg)	ABCA4 (G1977R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
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 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 865807	NM_000350.3(ABCA4):c.5915del (p.Gly1972fs)	ABCA4 (G1972fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 7892	NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	ABCA4 (L1970F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 502303	NM_000350.3(ABCA4):c.5899-2del	ABCA4	Deletion (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 377408	NM_000350.3(ABCA4):c.5898+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +2 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 865843	NM_000350.3(ABCA4):c.5846del (p.Gly1949fs)	ABCA4 (G1949fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 867010	NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln)	ABCA4 (E1942Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 812196	NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro)	ABCA4 (H1941P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 866996	NM_000350.3(ABCA4):c.5791G>A (p.Gly1931Ser)	ABCA4 (G1931S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 867049	NM_000350.3(ABCA4):c.5773A>G (p.Arg1925Gly)	ABCA4 (R1925G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 865829	NM_000350.3(ABCA4):c.5719_5720delinsTT (p.Ala1907Phe)	ABCA4 (A1907F +1 more)	Indel (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866197	NM_000350.3(ABCA4):c.5714+19C>A	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
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

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