C3661900[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224346	NM_001330311.2(DVL1):c.2005G>A (p.Val669Ile)	DVL1 (V644I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224407	NM_001330311.2(DVL1):c.165C>G (p.Asp55Glu)	DVL1 (D55E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 222821	NM_003036.4(SKI):c.1243G>A (p.Val415Met)	SKI (V415M)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +2 more	GUncertain significance
Select item 636979	NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)	SKI (L446F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 636727	NM_022114.4(PRDM16):c.574-10T>G	PRDM16	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 636819	NM_022114.4(PRDM16):c.3733C>G (p.Pro1245Ala)	PRDM16 (P1245A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 636973	NM_005026.5(PIK3CD):c.323G>T (p.Arg108Leu)	PIK3CD (R108L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636960	NM_005026.5(PIK3CD):c.397G>A (p.Asp133Asn)	PIK3CD (D133N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636772	NM_005026.5(PIK3CD):c.460C>T (p.Arg154Trp)	PIK3CD (R154W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 581916	NM_005026.5(PIK3CD):c.1189G>A (p.Val397Met)	PIK3CD, LOC126805612 (V397M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 582515	NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly)	PIK3CD (E525G +2 more)	Single nucleotide variant (missense variant)	Immunodeficiency 14 +1 more	GConflicting classifications of pathogenicity
Select item 636918	NM_005026.5(PIK3CD):c.1690-3del	PIK3CD	Deletion (intron variant)	not provided	GUncertain significance
Select item 636715	NM_005026.5(PIK3CD):c.2389A>G (p.Met797Val)	PIK3CD (M797V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 88675	NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	PIK3CD (E1021K +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
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 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 37134	NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)	NMNAT1 (E257K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 631561	NM_006610.4(MASP2):c.242C>A (p.Ser81Ter)	MASP2 (S81*)	Single nucleotide variant (nonsense)	Immunodeficiency due to MASP-2 deficiency +1 more	GUncertain significance
Select item 521379	NM_000478.6(ALPL):c.550C>T (p.Arg184Trp)	ALPL (R184W +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 556859	NM_000478.6(ALPL):c.629A>G (p.His210Arg)	ALPL (H210R +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +1 more	GConflicting classifications of pathogenicity
Select item 1224381	NM_000478.6(ALPL):c.657G>T (p.Met219Ile)	ALPL (M142I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13664	NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)	ALPL (D294A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatasia +6 more	GPathogenic
Select item 13673	NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)	ALPL (F327L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 13672	NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)	ALPL (G334D +2 more)	Single nucleotide variant (missense variant)	Infantile hypophosphatasia +5 more	GPathogenic/Likely pathogenic
Select item 1224321	NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)	ALPL (T312N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 1224383	NM_005529.7(HSPG2):c.10711C>T (p.Leu3571Phe)	HSPG2 (L3571F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224475	NM_005529.7(HSPG2):c.10107C>G (p.Asn3369Lys)	HSPG2 (N3369K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982057	NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)	HSPG2 (G3324R +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GLikely pathogenic
Select item 1224476	NM_005529.7(HSPG2):c.2799dup (p.Thr934fs)	HSPG2 (T934fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1051877	NM_005529.7(HSPG2):c.2038G>A (p.Ala680Thr)	HSPG2 (A680T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636701	NM_015991.4(C1QA):c.470G>A (p.Gly157Asp)	C1QA (G157D)	Single nucleotide variant (missense variant)	C1Q deficiency 1 +1 more	GLikely pathogenic
Select item 222849	NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)	TRIM63 (Q247*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 180559	NM_032588.4(TRIM63):c.143C>T (p.Ala48Val)	TRIM63 (A48V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 190980	NM_001625.4(AK2):c.545C>A (p.Ala182Asp)	AK2 (A182D +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 636923	NM_000760.4(CSF3R):c.2367C>T (p.Asn789=)	CSF3R	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 8904	NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)	PPT1 (R151* +1 more)	Single nucleotide variant (nonsense)	PPT1-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 427128	NM_001852.4(COL9A2):c.186G>A (p.Pro62=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GPathogenic/Likely pathogenic
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 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 596673	NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	RPE65 (N356fs)	Duplication (frameshift variant)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
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 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 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 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 636835	NM_015978.3(TNNI3K):c.235G>A (p.Gly79Ser)	FPGT-TNNI3K, TNNI3K (G79S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636905	NM_015978.3(TNNI3K):c.1573G>A (p.Val525Met)	FPGT-TNNI3K, TNNI3K (V525M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30994	NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)	NEXN (R279C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 180108	NM_144573.4(NEXN):c.865-5G>A	NEXN	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 47886	NM_144573.4(NEXN):c.1053+1G>A	NEXN	Single nucleotide variant (splice donor variant)	Primary familial hypertrophic cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 47887	NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)	NEXN (P371L +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 20 +6 more	GUncertain significance
Select item 180456	NM_144573.4(NEXN):c.1582G>C (p.Glu528Gln)	NEXN (E528Q +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GLikely benign
Select item 222754	NM_144573.4(NEXN):c.1589_1590del (p.Arg530fs)	NEXN (R466fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 47897	NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)	NEXN (S596R +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 326	NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)	NEXN (Y652C +1 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 636791	NM_005263.5(GFI1):c.733T>C (p.Cys245Arg)	GFI1 (C245R)	Single nucleotide variant (missense variant)	Nonimmune chronic idiopathic neutropenia of adults +2 more	GUncertain significance
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 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 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 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 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

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