| NM_002524.5(NRAS):c.464C>T (p.Ala155Val) |
single nucleotide variant |
RASopathy [RCV002527601]|not provided [RCV000521930] |
Chr1:114708641 [GRCh38]
Chr1:115251262 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.101C>T (p.Pro34Leu) |
single nucleotide variant |
Epidermal nevus [RCV000032848]|Noonan syndrome 1 [RCV000208568] |
Chr1:114716060 [GRCh38]
Chr1:115258681 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic|other|not provided |
| NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) |
single nucleotide variant |
Acute megakaryoblastic leukemia in down syndrome [RCV001293767]|Autoimmune lymphoproliferative syndrome type 4 [RCV000144962]|Juvenile myelomonocytic leukemia [RCV000014915]|Noonan syndrome 6 [RCV000022690]|RASopathy [RCV005089258]|not provided [RCV000157672] |
Chr1:114716123 [GRCh38]
Chr1:115258744 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) |
single nucleotide variant |
Noonan syndrome 1 [RCV000208537]|Noonan syndrome 6 [RCV000014916]|Noonan syndrome [RCV000211835]|RASopathy [RCV000463185] |
Chr1:114713941 [GRCh38]
Chr1:115256562 [GRCh37]
Chr1:1p13.2 |
pathogenic|not provided |
| NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004984642]|NRAS-related disorder [RCV003415702]|Noonan syndrome 1 [RCV000208552]|Noonan syndrome 6 [RCV000014917]|RASopathy [RCV001382056]|not provided [RCV000158982] |
Chr1:114713911 [GRCh38]
Chr1:115256532 [GRCh37]
Chr1:1p13.2 |
pathogenic|not provided |
| NM_002524.5(NRAS):c.25G>A (p.Val9Ile) |
single nucleotide variant |
Large congenital melanocytic nevus [RCV002476203]|RASopathy [RCV000545519] |
Chr1:114716136 [GRCh38]
Chr1:115258757 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) |
single nucleotide variant |
Acute myeloid leukemia [RCV000438070]|Carcinoma of colon [RCV000014913]|Large congenital melanocytic nevus [RCV000114743]|Noonan syndrome 6 [RCV001781267]|not provided [RCV004767008] |
Chr1:114716124 [GRCh38]
Chr1:115258745 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic|other |
| NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) |
single nucleotide variant |
Epidermal nevus [RCV000032847]|Large congenital melanocytic nevus [RCV000114744]|Linear nevus sebaceous syndrome [RCV000148032]|Neurocutaneous melanocytosis [RCV000114745]|Non-small cell lung carcinoma [RCV000037574]|Noonan syndrome 6 [RCV003992155]|Thyroid cancer, nonmedullary, 2 [RCV000014914]|not provided [RCV000413804] |
Chr1:114713908 [GRCh38]
Chr1:115256529 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic|uncertain significance|other|not provided |
| NRAS:c.181C>A (p.Gln61Lys) |
single nucleotide variant |
MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC [RCV000114746]|NEUROCUTANEOUS MELANOSIS, SOMATIC INCLUDED [RCV000114747] |
Chr1:114713909 [GRCh38]
Chr1:115256530 [GRCh37]
Chr1:1p13.2 |
other |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) |
single nucleotide variant |
Autoimmune lymphoproliferative syndrome type 4 [RCV003221788]|Cardiovascular phenotype [RCV004018703]|Epidermal nevus [RCV000032849]|Juvenile myelomonocytic leukemia [RCV000144963]|NRAS-related disorder [RCV003415756]|Noonan syndrome 6 [RCV001781333]|Noonan syndrome and Noonan-related syndrome [RCV001813214]|RASopathy [RCV001852659]|not provided [RCV000158980] |
Chr1:114716126 [GRCh38]
Chr1:115258747 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic|other|not provided |
| NM_002524.5(NRAS):c.291-8G>A |
single nucleotide variant |
RASopathy [RCV000862599]|not provided [RCV001707515]|not specified [RCV000037575] |
Chr1:114709736 [GRCh38]
Chr1:115252357 [GRCh37]
Chr1:1p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002524.5(NRAS):c.35G>T (p.Gly12Val) |
single nucleotide variant |
Noonan syndrome [RCV000037576]|RASopathy [RCV001377735]|not provided [RCV000158986] |
Chr1:114716126 [GRCh38]
Chr1:115258747 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.360G>A (p.Leu120=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453281]|Noonan syndrome 6 [RCV001100796]|Noonan syndrome and Noonan-related syndrome [RCV001813240]|RASopathy [RCV001080827]|not provided [RCV000587570]|not specified [RCV000037577] |
Chr1:114709659 [GRCh38]
Chr1:115252280 [GRCh37]
Chr1:1p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 |
copy number gain |
See cases [RCV000051827] |
Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12 |
pathogenic |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) |
single nucleotide variant |
Large congenital melanocytic nevus [RCV000114746]|Neurocutaneous melanocytosis [RCV000144964]|RASopathy [RCV000696329]|Ras Inhibitor response [RCV000626456]|Vascular Tumors Including Pyogenic Granuloma [RCV000662267]|not provided [RCV001092890] |
Chr1:114713909 [GRCh38]
Chr1:115256530 [GRCh37]
Chr1:115058053 [NCBI36]
Chr1:1p13.2 |
pathogenic|likely pathogenic|drug response|uncertain significance|other|not provided |
| NM_002524.5(NRAS):c.504G>C (p.Met168Ile) |
single nucleotide variant |
RASopathy [RCV005089604]|not provided [RCV000680367]|not specified [RCV000121741] |
Chr1:114708601 [GRCh38]
Chr1:115251222 [GRCh37]
Chr1:1p13.2 |
uncertain significance|not provided |
| NM_002524.5(NRAS):c.112-8A>G |
single nucleotide variant |
NRAS-related disorder [RCV003905211]|Noonan syndrome 6 [RCV001101050]|Noonan syndrome and Noonan-related syndrome [RCV001813388]|RASopathy [RCV001089307]|not provided [RCV000588495]|not specified [RCV000127228] |
Chr1:114713986 [GRCh38]
Chr1:115256607 [GRCh37]
Chr1:1p13.2 |
benign|likely benign|uncertain significance |
| NM_002524.5(NRAS):c.-50A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV000377346]|not provided [RCV004710538]|not specified [RCV000127229] |
Chr1:114716690 [GRCh38]
Chr1:115259311 [GRCh37]
Chr1:1p13.2 |
benign|likely benign|uncertain significance |
| NM_002524.5(NRAS):c.503T>A (p.Met168Lys) |
single nucleotide variant |
not specified [RCV001293540] |
Chr1:114708602 [GRCh38]
Chr1:115251223 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1 |
copy number loss |
See cases [RCV000139157] |
Chr1:114499327..114926423 [GRCh38]
Chr1:115041949..115469044 [GRCh37]
Chr1:114843472..115270567 [NCBI36]
Chr1:1p13.2 |
uncertain significance |
| GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 |
copy number gain |
See cases [RCV000142953] |
Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12 |
pathogenic |
| NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) |
single nucleotide variant |
NRAS-related disorder [RCV003945240]|Noonan syndrome 6 [RCV000373742]|Noonan syndrome [RCV001261093]|RASopathy [RCV000654962]|not specified [RCV000155806] |
Chr1:114708552 [GRCh38]
Chr1:115251173 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) |
single nucleotide variant |
Juvenile myelomonocytic leukemia [RCV000158978]|Noonan syndrome 6 [RCV003998247]|Noonan syndrome and Noonan-related syndrome [RCV001813397]|RASopathy [RCV001066799]|not provided [RCV000212761] |
Chr1:114716127 [GRCh38]
Chr1:115258748 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.368G>A (p.Arg123Lys) |
single nucleotide variant |
Noonan syndrome 6 [RCV005055078]|RASopathy [RCV001850066]|not provided [RCV001823120]|not specified [RCV000151575] |
Chr1:114709651 [GRCh38]
Chr1:115252272 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.225C>T (p.Gly75=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444638]|NRAS-related disorder [RCV003952766]|Noonan syndrome 6 [RCV000320449]|RASopathy [RCV001086742]|not provided [RCV000157673]|not specified [RCV000154799] |
Chr1:114713865 [GRCh38]
Chr1:115256486 [GRCh37]
Chr1:1p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002524.5(NRAS):c.159G>A (p.Leu53=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004019821]|NRAS-related disorder [RCV003952724]|RASopathy [RCV000534894]|not provided [RCV001594857]|not specified [RCV000151574] |
Chr1:114713931 [GRCh38]
Chr1:115256552 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) |
single nucleotide variant |
Chronic myelogenous leukemia, BCR-ABL1 positive [RCV002291497]|not provided [RCV000158979] |
Chr1:114716127 [GRCh38]
Chr1:115258748 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) |
single nucleotide variant |
Increased nuchal translucency [RCV001526619]|Noonan syndrome 6 [RCV001781335]|not provided [RCV000158985] |
Chr1:114716127 [GRCh38]
Chr1:115258748 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.562G>A (p.Val188Met) |
single nucleotide variant |
RASopathy [RCV005055637]|not provided [RCV000157674] |
Chr1:114708543 [GRCh38]
Chr1:115251164 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.175G>A (p.Ala59Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV004017274]|Noonan syndrome 6 [RCV002470724]|not provided [RCV000158981] |
Chr1:114713915 [GRCh38]
Chr1:115256536 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002524.5(NRAS):c.325G>C (p.Val109Leu) |
single nucleotide variant |
not provided [RCV000158983] |
Chr1:114709694 [GRCh38]
Chr1:115252315 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.112-1_113dup |
duplication |
RASopathy [RCV000158984] |
Chr1:114713976..114713977 [GRCh38]
Chr1:115256597..115256598 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.334G>T (p.Val112Leu) |
single nucleotide variant |
RASopathy [RCV003654179]|not provided [RCV000158987] |
Chr1:114709685 [GRCh38]
Chr1:115252306 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.442A>G (p.Thr148Ala) |
single nucleotide variant |
not provided [RCV000158988] |
Chr1:114709577 [GRCh38]
Chr1:115252198 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*344A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV000259443] |
Chr1:114707750 [GRCh38]
Chr1:115250371 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) |
single nucleotide variant |
Noonan syndrome 6 [RCV000709916]|not provided [RCV002468937]|not specified [RCV000194018] |
Chr1:114709702 [GRCh38]
Chr1:115252323 [GRCh37]
Chr1:1p13.2 |
uncertain significance|not provided |
| NM_002524.5(NRAS):c.*1643G>C |
single nucleotide variant |
Noonan syndrome 6 [RCV000285060] |
Chr1:114706451 [GRCh38]
Chr1:115249072 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356400]|Noonan syndrome 6 [RCV000262996] |
Chr1:114709639 [GRCh38]
Chr1:115252260 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) |
single nucleotide variant |
Noonan syndrome 6 [RCV003155143]|not provided [RCV000291285] |
Chr1:114713908 [GRCh38]
Chr1:115256529 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) |
single nucleotide variant |
Myelodysplastic syndrome progressed to acute myeloid leukemia [RCV000203450]|Noonan syndrome and Noonan-related syndrome [RCV001813426]|RASopathy [RCV001324275]|not provided [RCV000380895] |
Chr1:114716126 [GRCh38]
Chr1:115258747 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) |
single nucleotide variant |
Noonan syndrome 1 [RCV000208553]|RASopathy [RCV004732470]|not provided [RCV000522652] |
Chr1:114716090 [GRCh38]
Chr1:115258711 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic|not provided |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_002524.5(NRAS):c.461A>G (p.Asp154Gly) |
single nucleotide variant |
RASopathy [RCV000548898]|not provided [RCV004722924] |
Chr1:114708644 [GRCh38]
Chr1:115251265 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.290+15A>C |
single nucleotide variant |
RASopathy [RCV002064373]|not specified [RCV000600398] |
Chr1:114713785 [GRCh38]
Chr1:115256406 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*3366G>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000278492] |
Chr1:114704728 [GRCh38]
Chr1:115247349 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.-106G>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000285468] |
Chr1:114716746 [GRCh38]
Chr1:115259367 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2327C>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000281427] |
Chr1:114705767 [GRCh38]
Chr1:115248388 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.*2662G>A |
single nucleotide variant |
Noonan syndrome 6 [RCV000272399]|not provided [RCV004713502] |
Chr1:114705432 [GRCh38]
Chr1:115248053 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| NM_002524.5(NRAS):c.*2510_*2515del |
deletion |
Noonan syndrome [RCV000277907] |
Chr1:114705579..114705584 [GRCh38]
Chr1:115248200..115248205 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*2464A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV000373515] |
Chr1:114705630 [GRCh38]
Chr1:115248251 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.*2844T>A |
single nucleotide variant |
Noonan syndrome 6 [RCV000398306] |
Chr1:114705250 [GRCh38]
Chr1:115247871 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2965del |
deletion |
Noonan syndrome [RCV000300681] |
Chr1:114705129 [GRCh38]
Chr1:115247750 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*2513T>A |
single nucleotide variant |
Noonan syndrome 6 [RCV000316496]|not provided [RCV003409430] |
Chr1:114705581 [GRCh38]
Chr1:115248202 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.*3219C>G |
single nucleotide variant |
Noonan syndrome 6 [RCV000335852] |
Chr1:114704875 [GRCh38]
Chr1:115247496 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*111A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV000317051]|not provided [RCV003409431] |
Chr1:114707983 [GRCh38]
Chr1:115250604 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.4(NRAS):c.-208T>A |
single nucleotide variant |
Noonan syndrome [RCV000288966]|not provided [RCV001582914] |
Chr1:114716848 [GRCh38]
Chr1:115259469 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*2805T>C |
single nucleotide variant |
Noonan syndrome 6 [RCV000304039]|not provided [RCV003409429] |
Chr1:114705289 [GRCh38]
Chr1:115247910 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.*3384C>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000405052] |
Chr1:114704710 [GRCh38]
Chr1:115247331 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| NM_002524.5(NRAS):c.*2784T>A |
single nucleotide variant |
Noonan syndrome 6 [RCV000361225] |
Chr1:114705310 [GRCh38]
Chr1:115247931 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.*3404T>C |
single nucleotide variant |
Noonan syndrome 6 [RCV000292737] |
Chr1:114704690 [GRCh38]
Chr1:115247311 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2667T>C |
single nucleotide variant |
Noonan syndrome 6 [RCV000364455]|not provided [RCV004714647] |
Chr1:114705427 [GRCh38]
Chr1:115248048 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| NM_002524.5(NRAS):c.*3499C>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000386944] |
Chr1:114704595 [GRCh38]
Chr1:115247216 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*2546C>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000388618] |
Chr1:114705548 [GRCh38]
Chr1:115248169 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*872C>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000345781]|not provided [RCV004713503] |
Chr1:114707222 [GRCh38]
Chr1:115249843 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| NM_002524.5(NRAS):c.*583T>G |
single nucleotide variant |
Noonan syndrome 6 [RCV000367629] |
Chr1:114707511 [GRCh38]
Chr1:115250132 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.*740G>A |
single nucleotide variant |
Noonan syndrome 6 [RCV000310736] |
Chr1:114707354 [GRCh38]
Chr1:115249975 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| NM_002524.5(NRAS):c.*346G>A |
single nucleotide variant |
Noonan syndrome 6 [RCV000370376]|not provided [RCV004713504] |
Chr1:114707748 [GRCh38]
Chr1:115250369 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| NM_002524.5(NRAS):c.*416A>C |
single nucleotide variant |
Noonan syndrome 6 [RCV000313412]|not provided [RCV004710701] |
Chr1:114707678 [GRCh38]
Chr1:115250299 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*1062_*1063del |
deletion |
Noonan syndrome [RCV000395739] |
Chr1:114707031..114707032 [GRCh38]
Chr1:115249652..115249653 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*536C>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000275482] |
Chr1:114707558 [GRCh38]
Chr1:115250179 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2714G>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000268936] |
Chr1:114705380 [GRCh38]
Chr1:115248001 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2630G>A |
single nucleotide variant |
Noonan syndrome 6 [RCV000329752] |
Chr1:114705464 [GRCh38]
Chr1:115248085 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.4(NRAS):c.-179G>C |
single nucleotide variant |
Noonan syndrome [RCV000380979] |
Chr1:114716819 [GRCh38]
Chr1:115259440 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.4(NRAS):c.-209A>G |
single nucleotide variant |
Noonan syndrome [RCV000346351] |
Chr1:114716849 [GRCh38]
Chr1:115259470 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.4(NRAS):c.-242G>C |
single nucleotide variant |
Noonan syndrome [RCV000403024] |
Chr1:114716882 [GRCh38]
Chr1:115259503 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*935dup |
duplication |
Noonan syndrome [RCV000307322] |
Chr1:114707158..114707159 [GRCh38]
Chr1:115249779..115249780 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2677A>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000307407] |
Chr1:114705417 [GRCh38]
Chr1:115248038 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*3392T>C |
single nucleotide variant |
Noonan syndrome 6 [RCV000352339] |
Chr1:114704702 [GRCh38]
Chr1:115247323 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2178G>A |
single nucleotide variant |
Noonan syndrome 6 [RCV000338787] |
Chr1:114705916 [GRCh38]
Chr1:115248537 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*3062C>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000393269] |
Chr1:114705032 [GRCh38]
Chr1:115247653 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.4(NRAS):c.-245C>T |
single nucleotide variant |
Noonan syndrome [RCV000311439] |
Chr1:114716885 [GRCh38]
Chr1:115259506 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2860G>A |
single nucleotide variant |
Noonan syndrome 6 [RCV000357851] |
Chr1:114705234 [GRCh38]
Chr1:115247855 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*1382G>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000341854] |
Chr1:114706712 [GRCh38]
Chr1:115249333 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*1656C>T |
single nucleotide variant |
Noonan syndrome 6 [RCV000377148] |
Chr1:114706438 [GRCh38]
Chr1:115249059 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*774A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV000395755] |
Chr1:114707320 [GRCh38]
Chr1:115249941 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.4(NRAS):c.-132C>T |
single nucleotide variant |
Noonan syndrome [RCV000342811] |
Chr1:114716772 [GRCh38]
Chr1:115259393 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.183A>T (p.Gln61His) |
single nucleotide variant |
Noonan syndrome and Noonan-related syndrome [RCV001813470]|not provided [RCV000414646] |
Chr1:114713907 [GRCh38]
Chr1:115256528 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 |
copy number gain |
See cases [RCV000449311] |
Chr1:114507501..120494232 [GRCh37]
Chr1:1p13.2-12 |
pathogenic |
| NM_002524.5(NRAS):c.38G>C (p.Gly13Ala) |
single nucleotide variant |
Melanoma [RCV000420759] |
Chr1:114716123 [GRCh38]
Chr1:115258744 [GRCh37]
Chr1:1p13.2 |
pathogenic |
| NM_002524.5(NRAS):c.181C>G (p.Gln61Glu) |
single nucleotide variant |
Melanoma [RCV000427189] |
Chr1:114713909 [GRCh38]
Chr1:115256530 [GRCh37]
Chr1:1p13.2 |
pathogenic |
| NM_002524.5(NRAS):c.43+20G>A |
single nucleotide variant |
not provided [RCV000424029] |
Chr1:114708134 [GRCh38]
Chr1:115250755 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.37G>T (p.Gly13Cys) |
single nucleotide variant |
Melanoma [RCV000445167] |
Chr1:114716124 [GRCh38]
Chr1:115258745 [GRCh37]
Chr1:1p13.2 |
pathogenic |
| NM_002524.5(NRAS):c.-16T>C |
single nucleotide variant |
not provided [RCV000424162] |
Chr1:114716176 [GRCh38]
Chr1:115258797 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.182_183delinsGG (p.Gln61Arg) |
indel |
Melanoma [RCV000425830] |
Chr1:114713907..114713908 [GRCh38]
Chr1:115256528..115256529 [GRCh37]
Chr1:1p13.2 |
pathogenic |
| NM_002524.5(NRAS):c.181_182delinsAG (p.Gln61Arg) |
indel |
Melanoma [RCV000426087] |
Chr1:114713908..114713909 [GRCh38]
Chr1:115256529..115256530 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.5(NRAS):c.182_183delinsTG (p.Gln61Leu) |
indel |
Melanoma [RCV000443704] |
Chr1:114713907..114713908 [GRCh38]
Chr1:115256528..115256529 [GRCh37]
Chr1:1p13.2 |
pathogenic |
| NM_002524.5(NRAS):c.*5A>G |
single nucleotide variant |
not specified [RCV000427906] |
Chr1:114708192 [GRCh38]
Chr1:115250813 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.37G>A (p.Gly13Ser) |
single nucleotide variant |
Neoplasm of stomach [RCV000436341] |
Chr1:114716124 [GRCh38]
Chr1:115258745 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.5(NRAS):c.52G>A (p.Ala18Thr) |
single nucleotide variant |
Melanoma [RCV000435339] |
Chr1:114716109 [GRCh38]
Chr1:115258730 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.5(NRAS):c.315C>T (p.Asp105=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323599]|RASopathy [RCV002521569]|not provided [RCV000425023] |
Chr1:114709704 [GRCh38]
Chr1:115252325 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.181C>T (p.Gln61Ter) |
single nucleotide variant |
Melanoma [RCV000425052] |
Chr1:114713909 [GRCh38]
Chr1:115256530 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.5(NRAS):c.-30A>G |
single nucleotide variant |
not specified [RCV000429327] |
Chr1:114716670 [GRCh38]
Chr1:115259291 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.450+18G>T |
single nucleotide variant |
RASopathy [RCV002061449]|not provided [RCV000422469] |
Chr1:114709551 [GRCh38]
Chr1:115252172 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| NM_002524.5(NRAS):c.38G>T (p.Gly13Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004022195] |
Chr1:114716123 [GRCh38]
Chr1:115258744 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) |
single nucleotide variant |
RASopathy [RCV002524687] |
Chr1:114713908 [GRCh38]
Chr1:115256529 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002524.5(NRAS):c.183A>C (p.Gln61His) |
single nucleotide variant |
Acute myeloid leukemia [RCV000436751]|Melanoma [RCV000443672]|Non-small cell lung carcinoma [RCV000426637] |
Chr1:114713907 [GRCh38]
Chr1:115256528 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.525T>C (p.Asp175=) |
single nucleotide variant |
not provided [RCV000433515] |
Chr1:114708580 [GRCh38]
Chr1:115251201 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.87A>G (p.Val29=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004022369]|RASopathy [RCV002062579]|not provided [RCV000440684] |
Chr1:114716074 [GRCh38]
Chr1:115258695 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.36T>G (p.Gly12=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348169]|NRAS-related disorder [RCV003912648]|Noonan syndrome 6 [RCV001101051]|RASopathy [RCV002062313]|not provided [RCV000427012]|not specified [RCV001778962] |
Chr1:114716125 [GRCh38]
Chr1:115258746 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| NM_002524.5(NRAS):c.112-3del |
deletion |
not specified [RCV000484124] |
Chr1:114713981 [GRCh38]
Chr1:115256602 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.290+7G>A |
single nucleotide variant |
NRAS-related disorder [RCV003925393]|RASopathy [RCV000460147]|not provided [RCV003409649]|not specified [RCV000601392] |
Chr1:114713793 [GRCh38]
Chr1:115256414 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.250A>G (p.Ile84Val) |
single nucleotide variant |
Noonan syndrome 6 [RCV001100797]|RASopathy [RCV001066150]|not provided [RCV000480705] |
Chr1:114713840 [GRCh38]
Chr1:115256461 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.451-21_451-19del |
deletion |
RASopathy [RCV002063703]|not provided [RCV000480713]|not specified [RCV001778974] |
Chr1:114708673..114708675 [GRCh38]
Chr1:115251294..115251296 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_002524.5(NRAS):c.393C>T (p.His131=) |
single nucleotide variant |
RASopathy [RCV000533977]|not provided [RCV001712528] |
Chr1:114709626 [GRCh38]
Chr1:115252247 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.432C>T (p.Thr144=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002331082]|Noonan syndrome and Noonan-related syndrome [RCV001813525]|RASopathy [RCV002064335]|not specified [RCV000603088] |
Chr1:114709587 [GRCh38]
Chr1:115252208 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.380C>T (p.Thr127Ile) |
single nucleotide variant |
RASopathy [RCV000560359] |
Chr1:114709639 [GRCh38]
Chr1:115252260 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.-46T>A |
single nucleotide variant |
not specified [RCV000610987] |
Chr1:114716686 [GRCh38]
Chr1:115259307 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.434C>T (p.Ser145Leu) |
single nucleotide variant |
RASopathy [RCV000654917] |
Chr1:114709585 [GRCh38]
Chr1:115252206 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 |
copy number gain |
See cases [RCV000512354] |
Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2 |
pathogenic |
| NM_002524.5(NRAS):c.127C>T (p.Gln43Ter) |
single nucleotide variant |
not provided [RCV000513258] |
Chr1:114713963 [GRCh38]
Chr1:115256584 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.5(NRAS):c.147A>C (p.Glu49Asp) |
single nucleotide variant |
not provided [RCV000681060] |
Chr1:114713943 [GRCh38]
Chr1:115256564 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.178G>A (p.Gly60Arg) |
single nucleotide variant |
not provided [RCV000681189] |
Chr1:114713912 [GRCh38]
Chr1:115256533 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.5(NRAS):c.451-334G>A |
single nucleotide variant |
not provided [RCV000681339] |
Chr1:114708988 [GRCh38]
Chr1:115251609 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.291-260C>G |
single nucleotide variant |
not provided [RCV000681249] |
Chr1:114709988 [GRCh38]
Chr1:115252609 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.112-24dup |
duplication |
RASopathy [RCV002060861]|not provided [RCV000680633]|not specified [RCV001193081] |
Chr1:114713997..114713998 [GRCh38]
Chr1:115256618..115256619 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| NM_002524.5(NRAS):c.451-44G>A |
single nucleotide variant |
not provided [RCV000680672] |
Chr1:114708698 [GRCh38]
Chr1:115251319 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.31G>A (p.Ala11Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV004026162]|RASopathy [RCV001042539]|not provided [RCV000680636] |
Chr1:114716130 [GRCh38]
Chr1:115258751 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.451-200C>T |
single nucleotide variant |
not provided [RCV000680726] |
Chr1:114708854 [GRCh38]
Chr1:115251475 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.565A>G (p.Met189Val) |
single nucleotide variant |
not provided [RCV000680640] |
Chr1:114708540 [GRCh38]
Chr1:115251161 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_002524.5(NRAS):c.-17-4A>G |
single nucleotide variant |
not provided [RCV001586452] |
Chr1:114716181 [GRCh38]
Chr1:115258802 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NC_000001.11:g.114716959T>C |
single nucleotide variant |
not provided [RCV001568102] |
Chr1:114716959 [GRCh38]
Chr1:115259580 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.176C>A (p.Ala59Asp) |
single nucleotide variant |
Anemia [RCV001003789]|Noonan syndrome [RCV001261065] |
Chr1:114713914 [GRCh38]
Chr1:115256535 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.5(NRAS):c.54A>C (p.Ala18=) |
single nucleotide variant |
not provided [RCV000943948] |
Chr1:114716107 [GRCh38]
Chr1:115258728 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.45G>C (p.Gly15=) |
single nucleotide variant |
RASopathy [RCV001405583] |
Chr1:114716116 [GRCh38]
Chr1:115258737 [GRCh37]
Chr1:1p13.2 |
likely benign |
| GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1 |
copy number loss |
not provided [RCV001005130] |
Chr1:114024461..116189135 [GRCh37]
Chr1:1p13.2-13.1 |
likely pathogenic |
| NM_002524.5(NRAS):c.65A>G (p.Gln22Arg) |
single nucleotide variant |
RASopathy [RCV000815786]|not provided [RCV004777892] |
Chr1:114716096 [GRCh38]
Chr1:115258717 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.320A>C (p.Asp107Ala) |
single nucleotide variant |
RASopathy [RCV000807015] |
Chr1:114709699 [GRCh38]
Chr1:115252320 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.561G>A (p.Val187=) |
single nucleotide variant |
RASopathy [RCV000798715] |
Chr1:114708544 [GRCh38]
Chr1:115251165 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.*2816T>C |
single nucleotide variant |
Noonan syndrome 6 [RCV001097130] |
Chr1:114705278 [GRCh38]
Chr1:115247899 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*2811C>A |
single nucleotide variant |
Noonan syndrome 6 [RCV001097131] |
Chr1:114705283 [GRCh38]
Chr1:115247904 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.300T>A (p.Ile100=) |
single nucleotide variant |
RASopathy [RCV001456038] |
Chr1:114709719 [GRCh38]
Chr1:115252340 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.101C>G (p.Pro34Arg) |
single nucleotide variant |
not provided [RCV000994077] |
Chr1:114716060 [GRCh38]
Chr1:115258681 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*3103G>T |
single nucleotide variant |
Noonan syndrome 6 [RCV001100880] |
Chr1:114704991 [GRCh38]
Chr1:115247612 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*1629C>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001097227] |
Chr1:114706465 [GRCh38]
Chr1:115249086 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*1466A>T |
single nucleotide variant |
Noonan syndrome 6 [RCV001097230] |
Chr1:114706628 [GRCh38]
Chr1:115249249 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.370A>G (p.Thr124Ala) |
single nucleotide variant |
RASopathy [RCV001866020]|not provided [RCV001569976] |
Chr1:114709649 [GRCh38]
Chr1:115252270 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NC_000001.10:g.(?_113456513)_(116311162_?)dup |
duplication |
RASopathy [RCV003107709] |
Chr1:113456513..116311162 [GRCh37]
Chr1:1p13.2-13.1 |
uncertain significance |
| NC_000001.11:g.114716978G>T |
single nucleotide variant |
not provided [RCV001614124] |
Chr1:114716978 [GRCh38]
Chr1:115259599 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.291-315A>G |
single nucleotide variant |
not provided [RCV001557783] |
Chr1:114710043 [GRCh38]
Chr1:115252664 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.444C>T (p.Thr148=) |
single nucleotide variant |
not provided [RCV000939169] |
Chr1:114709575 [GRCh38]
Chr1:115252196 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*2226G>C |
single nucleotide variant |
Noonan syndrome 6 [RCV001100701] |
Chr1:114705868 [GRCh38]
Chr1:115248489 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*3341A>T |
single nucleotide variant |
Noonan syndrome 6 [RCV001100878] |
Chr1:114704753 [GRCh38]
Chr1:115247374 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.235C>T (p.Leu79Phe) |
single nucleotide variant |
Noonan syndrome [RCV001249716] |
Chr1:114713855 [GRCh38]
Chr1:115256476 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.152G>A (p.Cys51Tyr) |
single nucleotide variant |
RASopathy [RCV001070491] |
Chr1:114713938 [GRCh38]
Chr1:115256559 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.425T>C (p.Ile142Thr) |
single nucleotide variant |
RASopathy [RCV002771045] |
Chr1:114709594 [GRCh38]
Chr1:115252215 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.304C>T (p.Arg102Ter) |
single nucleotide variant |
not provided [RCV002467166] |
Chr1:114709715 [GRCh38]
Chr1:115252336 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.-18+156A>C |
single nucleotide variant |
not provided [RCV001716053] |
Chr1:114716502 [GRCh38]
Chr1:115259123 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.450+12C>T |
single nucleotide variant |
RASopathy [RCV003539398]|not provided [RCV001699996] |
Chr1:114709557 [GRCh38]
Chr1:115252178 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*3020A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001100881] |
Chr1:114705074 [GRCh38]
Chr1:115247695 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2618A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001098880]|not provided [RCV003405303] |
Chr1:114705476 [GRCh38]
Chr1:115248097 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.*1914A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001100968] |
Chr1:114706180 [GRCh38]
Chr1:115248801 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*651C>T |
single nucleotide variant |
Noonan syndrome 6 [RCV001098984] |
Chr1:114707443 [GRCh38]
Chr1:115250064 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*3362T>C |
single nucleotide variant |
Noonan syndrome 6 [RCV001100877] |
Chr1:114704732 [GRCh38]
Chr1:115247353 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*3306A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001100879] |
Chr1:114704788 [GRCh38]
Chr1:115247409 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.-18+62A>C |
single nucleotide variant |
not provided [RCV001694662] |
Chr1:114716596 [GRCh38]
Chr1:115259217 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.112-70C>T |
single nucleotide variant |
not provided [RCV001612515]|not specified [RCV003399428] |
Chr1:114714048 [GRCh38]
Chr1:115256669 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.*2767C>T |
single nucleotide variant |
Noonan syndrome 6 [RCV001097132] |
Chr1:114705327 [GRCh38]
Chr1:115247948 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*1509A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001097229] |
Chr1:114706585 [GRCh38]
Chr1:115249206 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*1105C>T |
single nucleotide variant |
Noonan syndrome 6 [RCV001097231] |
Chr1:114706989 [GRCh38]
Chr1:115249610 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.203G>C (p.Arg68Thr) |
single nucleotide variant |
RASopathy [RCV002560284]|not provided [RCV004720787]|not specified [RCV001201215] |
Chr1:114713887 [GRCh38]
Chr1:115256508 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.85G>A (p.Val29Ile) |
single nucleotide variant |
RASopathy [RCV005093723]|not provided [RCV001171586] |
Chr1:114716076 [GRCh38]
Chr1:115258697 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2523A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001098882] |
Chr1:114705571 [GRCh38]
Chr1:115248192 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2589G>A |
single nucleotide variant |
Noonan syndrome 6 [RCV001098881] |
Chr1:114705505 [GRCh38]
Chr1:115248126 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*687A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001098983] |
Chr1:114707407 [GRCh38]
Chr1:115250028 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.*2412G>A |
single nucleotide variant |
Noonan syndrome 6 [RCV001100699] |
Chr1:114705682 [GRCh38]
Chr1:115248303 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2328G>A |
single nucleotide variant |
Noonan syndrome 6 [RCV001100700] |
Chr1:114705766 [GRCh38]
Chr1:115248387 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*340G>A |
single nucleotide variant |
Noonan syndrome 6 [RCV001100795] |
Chr1:114707754 [GRCh38]
Chr1:115250375 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*1974T>C |
single nucleotide variant |
Noonan syndrome 6 [RCV001100966] |
Chr1:114706120 [GRCh38]
Chr1:115248741 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*1845T>C |
single nucleotide variant |
Noonan syndrome 6 [RCV001100970] |
Chr1:114706249 [GRCh38]
Chr1:115248870 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*3500G>A |
single nucleotide variant |
Noonan syndrome 6 [RCV001100602] |
Chr1:114704594 [GRCh38]
Chr1:115247215 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*3430T>A |
single nucleotide variant |
Noonan syndrome 6 [RCV001100603] |
Chr1:114704664 [GRCh38]
Chr1:115247285 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*2517A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001100698] |
Chr1:114705577 [GRCh38]
Chr1:115248198 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*2188C>A |
single nucleotide variant |
Noonan syndrome 6 [RCV001100702] |
Chr1:114705906 [GRCh38]
Chr1:115248527 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*1936C>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001100967] |
Chr1:114706158 [GRCh38]
Chr1:115248779 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.*1571A>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001097228] |
Chr1:114706523 [GRCh38]
Chr1:115249144 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.112-6C>G |
single nucleotide variant |
Noonan syndrome 6 [RCV001100798]|RASopathy [RCV002558012]|not provided [RCV001566706] |
Chr1:114713984 [GRCh38]
Chr1:115256605 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.*1887T>C |
single nucleotide variant |
Noonan syndrome 6 [RCV001100969] |
Chr1:114706207 [GRCh38]
Chr1:115248828 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.291-3T>C |
single nucleotide variant |
RASopathy [RCV001052664] |
Chr1:114709731 [GRCh38]
Chr1:115252352 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.443C>T (p.Thr148Ile) |
single nucleotide variant |
Noonan syndrome [RCV001261091] |
Chr1:114709576 [GRCh38]
Chr1:115252197 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.112-24C>A |
single nucleotide variant |
not provided [RCV001662948] |
Chr1:114714002 [GRCh38]
Chr1:115256623 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.457G>A (p.Glu153Lys) |
single nucleotide variant |
Noonan syndrome 6 [RCV004783939]|Noonan syndrome [RCV001261092] |
Chr1:114708648 [GRCh38]
Chr1:115251269 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.204A>T (p.Arg68Ser) |
single nucleotide variant |
Noonan syndrome [RCV001261066] |
Chr1:114713886 [GRCh38]
Chr1:115256507 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.5(NRAS):c.272C>T (p.Ala91Val) |
single nucleotide variant |
RASopathy [RCV001300480]|not provided [RCV001664814] |
Chr1:114713818 [GRCh38]
Chr1:115256439 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.450+7T>C |
single nucleotide variant |
RASopathy [RCV001422257] |
Chr1:114709562 [GRCh38]
Chr1:115252183 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.490C>T (p.Arg164Cys) |
single nucleotide variant |
Neurodevelopmental disorder [RCV001374972]|RASopathy [RCV001865869] |
Chr1:114708615 [GRCh38]
Chr1:115251236 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.5C>T (p.Thr2Ile) |
single nucleotide variant |
not specified [RCV001290573] |
Chr1:114716156 [GRCh38]
Chr1:115258777 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.539_*4+1del |
deletion |
RASopathy [RCV001308293] |
Chr1:114708530..114708566 [GRCh38]
Chr1:115251151..115251187 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) |
copy number loss |
Seizure [RCV001352640] |
Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12 |
pathogenic |
| NM_002524.5(NRAS):c.411C>T (p.Tyr137=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002322430]|RASopathy [RCV001418271]|not provided [RCV003405653] |
Chr1:114709608 [GRCh38]
Chr1:115252229 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.531G>A (p.Gly177=) |
single nucleotide variant |
RASopathy [RCV001410060] |
Chr1:114708574 [GRCh38]
Chr1:115251195 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.74A>G (p.Gln25Arg) |
single nucleotide variant |
not provided [RCV001592708] |
Chr1:114716087 [GRCh38]
Chr1:115258708 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.-18+195C>T |
single nucleotide variant |
not provided [RCV001687951] |
Chr1:114716463 [GRCh38]
Chr1:115259084 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.173C>T (p.Thr58Ile) |
single nucleotide variant |
Colorectal cancer [RCV002246364]|Noonan syndrome 1 [RCV003151312]|Noonan syndrome and Noonan-related syndrome [RCV001813594]|RASopathy [RCV001382057]|not provided [RCV002243172] |
Chr1:114713917 [GRCh38]
Chr1:115256538 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.318G>A (p.Ser106=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002322428]|RASopathy [RCV001417885] |
Chr1:114709701 [GRCh38]
Chr1:115252322 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.69A>G (p.Leu23=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160733]|Noonan syndrome and Noonan-related syndrome [RCV001813596]|RASopathy [RCV001432727]|not provided [RCV001550029] |
Chr1:114716092 [GRCh38]
Chr1:115258713 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.268T>C (p.Phe90Leu) |
single nucleotide variant |
Focal-onset seizure [RCV001775214]|not provided [RCV003154193] |
Chr1:114713822 [GRCh38]
Chr1:115256443 [GRCh37]
Chr1:1p13.2 |
likely pathogenic|uncertain significance |
| NM_002524.5(NRAS):c.64C>T (p.Gln22Ter) |
single nucleotide variant |
not provided [RCV001763293] |
Chr1:114716097 [GRCh38]
Chr1:115258718 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.290+15A>G |
single nucleotide variant |
RASopathy [RCV003539400]|not specified [RCV001732822] |
Chr1:114713785 [GRCh38]
Chr1:115256406 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.542G>T (p.Cys181Phe) |
single nucleotide variant |
not provided [RCV001763216] |
Chr1:114708563 [GRCh38]
Chr1:115251184 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.449A>G (p.Gln150Arg) |
single nucleotide variant |
Noonan syndrome 6 [RCV001775405] |
Chr1:114709570 [GRCh38]
Chr1:115252191 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.5(NRAS):c.394G>C (p.Glu132Gln) |
single nucleotide variant |
not provided [RCV001774266] |
Chr1:114709625 [GRCh38]
Chr1:115252246 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.554C>T (p.Pro185Leu) |
single nucleotide variant |
not provided [RCV001769109] |
Chr1:114708551 [GRCh38]
Chr1:115251172 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.274G>A (p.Asp92Asn) |
single nucleotide variant |
not provided [RCV001814824] |
Chr1:114713816 [GRCh38]
Chr1:115256437 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.42T>C (p.Val14=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002329765]|Noonan syndrome and Noonan-related syndrome [RCV001813680] |
Chr1:114716119 [GRCh38]
Chr1:115258740 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.179G>T (p.Gly60Val) |
single nucleotide variant |
Noonan syndrome 6 [RCV003992561]|Noonan syndrome and Noonan-related syndrome [RCV001813662] |
Chr1:114713911 [GRCh38]
Chr1:115256532 [GRCh37]
Chr1:1p13.2 |
likely pathogenic|uncertain significance |
| NM_002524.5(NRAS):c.108A>G (p.Ile36Met) |
single nucleotide variant |
Noonan syndrome 6 [RCV001822085] |
Chr1:114716053 [GRCh38]
Chr1:115258674 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.5(NRAS):c.478G>A (p.Val160Ile) |
single nucleotide variant |
RASopathy [RCV001863674]|not provided [RCV002243471] |
Chr1:114708627 [GRCh38]
Chr1:115251248 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.22G>A (p.Val8Met) |
single nucleotide variant |
RASopathy [RCV001891891] |
Chr1:114716139 [GRCh38]
Chr1:115258760 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.331A>G (p.Met111Val) |
single nucleotide variant |
RASopathy [RCV001910618] |
Chr1:114709688 [GRCh38]
Chr1:115252309 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.299T>C (p.Ile100Thr) |
single nucleotide variant |
RASopathy [RCV002004631] |
Chr1:114709720 [GRCh38]
Chr1:115252341 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.140A>G (p.Asp47Gly) |
single nucleotide variant |
RASopathy [RCV001892312] |
Chr1:114713950 [GRCh38]
Chr1:115256571 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) |
copy number gain |
not specified [RCV002053602] |
Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2 |
pathogenic |
| NM_002524.5(NRAS):c.260G>A (p.Ser87Asn) |
single nucleotide variant |
RASopathy [RCV001986088]|not provided [RCV003228044] |
Chr1:114713830 [GRCh38]
Chr1:115256451 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.297G>T (p.Gln99His) |
single nucleotide variant |
RASopathy [RCV001982738] |
Chr1:114709722 [GRCh38]
Chr1:115252343 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.562G>T (p.Val188Leu) |
single nucleotide variant |
RASopathy [RCV002039240] |
Chr1:114708543 [GRCh38]
Chr1:115251164 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.300T>G (p.Ile100Met) |
single nucleotide variant |
RASopathy [RCV001959481] |
Chr1:114709719 [GRCh38]
Chr1:115252340 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.499C>T (p.Arg167Ter) |
single nucleotide variant |
RASopathy [RCV001907357] |
Chr1:114708606 [GRCh38]
Chr1:115251227 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.273G>A (p.Ala91=) |
single nucleotide variant |
RASopathy [RCV002111089]|not specified [RCV003403684] |
Chr1:114713817 [GRCh38]
Chr1:115256438 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.465T>G (p.Ala155=) |
single nucleotide variant |
RASopathy [RCV002091059] |
Chr1:114708640 [GRCh38]
Chr1:115251261 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.111+10A>G |
single nucleotide variant |
RASopathy [RCV002147963] |
Chr1:114716040 [GRCh38]
Chr1:115258661 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.451-11T>C |
single nucleotide variant |
RASopathy [RCV002111441] |
Chr1:114708665 [GRCh38]
Chr1:115251286 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.112-14C>T |
single nucleotide variant |
RASopathy [RCV002172265] |
Chr1:114713992 [GRCh38]
Chr1:115256613 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.451-14T>G |
single nucleotide variant |
RASopathy [RCV002079762] |
Chr1:114708668 [GRCh38]
Chr1:115251289 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.451-12T>C |
single nucleotide variant |
RASopathy [RCV002177693] |
Chr1:114708666 [GRCh38]
Chr1:115251287 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.111+18C>G |
single nucleotide variant |
RASopathy [RCV002202133] |
Chr1:114716032 [GRCh38]
Chr1:115258653 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.451-17A>G |
single nucleotide variant |
RASopathy [RCV002203489] |
Chr1:114708671 [GRCh38]
Chr1:115251292 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.451-10C>T |
single nucleotide variant |
NRAS-related disorder [RCV003895873]|RASopathy [RCV002082202] |
Chr1:114708664 [GRCh38]
Chr1:115251285 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NC_000001.10:g.(?_112318699)_(115576848_?)del |
deletion |
Hereditary spastic paraplegia 47 [RCV003109541] |
Chr1:112318699..115576848 [GRCh37]
Chr1:1p13.2 |
pathogenic |
| NM_002524.5(NRAS):c.371C>T (p.Thr124Ile) |
single nucleotide variant |
not provided [RCV003236138] |
Chr1:114709648 [GRCh38]
Chr1:115252269 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.412G>A (p.Gly138Arg) |
single nucleotide variant |
RASopathy [RCV003097729]|See cases [RCV002287734] |
Chr1:114709607 [GRCh38]
Chr1:115252228 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.430A>G (p.Thr144Ala) |
single nucleotide variant |
RASopathy [RCV002297129] |
Chr1:114709589 [GRCh38]
Chr1:115252210 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| GRCh37/hg19 1p13.2(chr1:114833697-115377089)x1 |
copy number loss |
not provided [RCV002473608] |
Chr1:114833697..115377089 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.107T>C (p.Ile36Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002417527]|RASopathy [RCV003101066] |
Chr1:114716054 [GRCh38]
Chr1:115258675 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.166C>T (p.Leu56=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395118]|RASopathy [RCV005097670] |
Chr1:114713924 [GRCh38]
Chr1:115256545 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.21G>A (p.Val7=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002425712] |
Chr1:114716140 [GRCh38]
Chr1:115258761 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.222A>G (p.Thr74=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002428208]|NRAS-related disorder [RCV003896188]|RASopathy [RCV003098737] |
Chr1:114713868 [GRCh38]
Chr1:115256489 [GRCh37]
Chr1:1p13.2 |
benign|likely benign |
| NM_002524.5(NRAS):c.384A>G (p.Lys128=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355467] |
Chr1:114709635 [GRCh38]
Chr1:115252256 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.180A>G (p.Gly60=) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002306249] |
Chr1:114713910 [GRCh38]
Chr1:115256531 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.252C>T (p.Ile84=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433133] |
Chr1:114713838 [GRCh38]
Chr1:115256459 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.454G>T (p.Val152Phe) |
single nucleotide variant |
RASopathy [RCV002301834] |
Chr1:114708651 [GRCh38]
Chr1:115251272 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.164T>C (p.Ile55Thr) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002306250] |
Chr1:114713926 [GRCh38]
Chr1:115256547 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.228A>G (p.Glu76=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002446210]|RASopathy [RCV003098777] |
Chr1:114713862 [GRCh38]
Chr1:115256483 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.564G>C (p.Val188=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345186]|RASopathy [RCV003096826] |
Chr1:114708541 [GRCh38]
Chr1:115251162 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.325G>A (p.Val109Ile) |
single nucleotide variant |
RASopathy [RCV003074614] |
Chr1:114709694 [GRCh38]
Chr1:115252315 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.84T>C (p.Phe28=) |
single nucleotide variant |
RASopathy [RCV002903165] |
Chr1:114716077 [GRCh38]
Chr1:115258698 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.519C>T (p.Ser173=) |
single nucleotide variant |
RASopathy [RCV002785818] |
Chr1:114708586 [GRCh38]
Chr1:115251207 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.4A>G (p.Thr2Ala) |
single nucleotide variant |
RASopathy [RCV003038929] |
Chr1:114716157 [GRCh38]
Chr1:115258778 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.291-14A>T |
single nucleotide variant |
RASopathy [RCV003020437] |
Chr1:114709742 [GRCh38]
Chr1:115252363 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.305G>A (p.Arg102Gln) |
single nucleotide variant |
RASopathy [RCV002619874]|not provided [RCV003128882] |
Chr1:114709714 [GRCh38]
Chr1:115252335 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.441G>T (p.Lys147Asn) |
single nucleotide variant |
RASopathy [RCV002797365] |
Chr1:114709578 [GRCh38]
Chr1:115252199 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.450G>C (p.Gln150His) |
single nucleotide variant |
RASopathy [RCV002976028] |
Chr1:114709569 [GRCh38]
Chr1:115252190 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.330T>C (p.Pro110=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004983293]|RASopathy [RCV003053026] |
Chr1:114709689 [GRCh38]
Chr1:115252310 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.41T>G (p.Val14Gly) |
single nucleotide variant |
RASopathy [RCV002619475] |
Chr1:114716120 [GRCh38]
Chr1:115258741 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.259A>T (p.Ser87Cys) |
single nucleotide variant |
NRAS-related disorder [RCV004731303]|RASopathy [RCV002933042]|not provided [RCV003317628] |
Chr1:114713831 [GRCh38]
Chr1:115256452 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.112-14del |
deletion |
RASopathy [RCV002643563] |
Chr1:114713992 [GRCh38]
Chr1:115256613 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.290+4C>T |
single nucleotide variant |
RASopathy [RCV002933675] |
Chr1:114713796 [GRCh38]
Chr1:115256417 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.66G>A (p.Gln22=) |
single nucleotide variant |
RASopathy [RCV002857572] |
Chr1:114716095 [GRCh38]
Chr1:115258716 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.544A>T (p.Met182Leu) |
single nucleotide variant |
RASopathy [RCV003048040] |
Chr1:114708561 [GRCh38]
Chr1:115251182 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.524ATG[3] (p.Asp176_Gly177insAsp) |
microsatellite |
RASopathy [RCV002627598] |
Chr1:114708575..114708576 [GRCh38]
Chr1:115251196..115251197 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.410A>G (p.Tyr137Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004138465] |
Chr1:114709609 [GRCh38]
Chr1:115252230 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.18GGT[2] (p.Val9del) |
microsatellite |
RASopathy [RCV002602524] |
Chr1:114716135..114716137 [GRCh38]
Chr1:115258756..115258758 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.83T>G (p.Phe28Cys) |
single nucleotide variant |
Noonan syndrome 6 [RCV004821373] |
Chr1:114716078 [GRCh38]
Chr1:115258699 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.111+14G>T |
single nucleotide variant |
RASopathy [RCV003069015] |
Chr1:114716036 [GRCh38]
Chr1:115258657 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.451-19dup |
duplication |
RASopathy [RCV002654558] |
Chr1:114708672..114708673 [GRCh38]
Chr1:115251293..115251294 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.291-11C>A |
single nucleotide variant |
RASopathy [RCV003069555] |
Chr1:114709739 [GRCh38]
Chr1:115252360 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.450+6G>A |
single nucleotide variant |
RASopathy [RCV002589249] |
Chr1:114709563 [GRCh38]
Chr1:115252184 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.450+6G>T |
single nucleotide variant |
RASopathy [RCV002611852] |
Chr1:114709563 [GRCh38]
Chr1:115252184 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.157T>C (p.Leu53=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003172591]|RASopathy [RCV003779556] |
Chr1:114713933 [GRCh38]
Chr1:115256554 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.191_196dup (p.Ser65_Ala66insAspSer) |
duplication |
Pyogenic granuloma [RCV003458960] |
Chr1:114713893..114713894 [GRCh38]
Chr1:115256514..115256515 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.4(NRAS):c.-183G>A |
single nucleotide variant |
not provided [RCV003406686] |
Chr1:114716823 [GRCh38]
Chr1:115259444 [GRCh37]
Chr1:1p13.2 |
likely benign |
| GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 |
copy number loss |
not provided [RCV003483294] |
Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1 |
pathogenic |
| NM_002524.5(NRAS):c.*2221dup |
duplication |
not provided [RCV003406684] |
Chr1:114705872..114705873 [GRCh38]
Chr1:115248493..115248494 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.*3385G>A |
single nucleotide variant |
not provided [RCV003406683] |
Chr1:114704709 [GRCh38]
Chr1:115247330 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.264G>C (p.Lys88Asn) |
single nucleotide variant |
not provided [RCV003406685] |
Chr1:114713826 [GRCh38]
Chr1:115256447 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.283C>T (p.Leu95Phe) |
single nucleotide variant |
NRAS-related disorder [RCV003419062]|RASopathy [RCV003655426] |
Chr1:114713807 [GRCh38]
Chr1:115256428 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.424A>G (p.Ile142Val) |
single nucleotide variant |
RASopathy [RCV003824829] |
Chr1:114709595 [GRCh38]
Chr1:115252216 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.186A>G (p.Glu62=) |
single nucleotide variant |
RASopathy [RCV003654743] |
Chr1:114713904 [GRCh38]
Chr1:115256525 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.356A>G (p.Asp119Gly) |
single nucleotide variant |
RASopathy [RCV003654846] |
Chr1:114709663 [GRCh38]
Chr1:115252284 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.290+11C>G |
single nucleotide variant |
RASopathy [RCV003655830] |
Chr1:114713789 [GRCh38]
Chr1:115256410 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.291-9C>T |
single nucleotide variant |
RASopathy [RCV003839093] |
Chr1:114709737 [GRCh38]
Chr1:115252358 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.436G>A (p.Ala146Thr) |
single nucleotide variant |
RASopathy [RCV003654717] |
Chr1:114709583 [GRCh38]
Chr1:115252204 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.394G>A (p.Glu132Lys) |
single nucleotide variant |
RASopathy [RCV003654911] |
Chr1:114709625 [GRCh38]
Chr1:115252246 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.555A>G (p.Pro185=) |
single nucleotide variant |
RASopathy [RCV003654695] |
Chr1:114708550 [GRCh38]
Chr1:115251171 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.264G>A (p.Lys88=) |
single nucleotide variant |
RASopathy [RCV003654742] |
Chr1:114713826 [GRCh38]
Chr1:115256447 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.451-11dup |
duplication |
RASopathy [RCV003654901] |
Chr1:114708664..114708665 [GRCh38]
Chr1:115251285..115251286 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.112-7C>T |
single nucleotide variant |
RASopathy [RCV003654726]|not provided [RCV004810533] |
Chr1:114713985 [GRCh38]
Chr1:115256606 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.225C>G (p.Gly75=) |
single nucleotide variant |
RASopathy [RCV003654923] |
Chr1:114713865 [GRCh38]
Chr1:115256486 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.421T>C (p.Phe141Leu) |
single nucleotide variant |
RASopathy [RCV003540380] |
Chr1:114709598 [GRCh38]
Chr1:115252219 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.490C>A (p.Arg164Ser) |
single nucleotide variant |
RASopathy [RCV003539698]|not provided [RCV004780577] |
Chr1:114708615 [GRCh38]
Chr1:115251236 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.450+3A>G |
single nucleotide variant |
RASopathy [RCV003540189] |
Chr1:114709566 [GRCh38]
Chr1:115252187 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.558T>C (p.Cys186=) |
single nucleotide variant |
RASopathy [RCV003540398] |
Chr1:114708547 [GRCh38]
Chr1:115251168 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.21G>T (p.Val7=) |
single nucleotide variant |
RASopathy [RCV003864515] |
Chr1:114716140 [GRCh38]
Chr1:115258761 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.451-17A>C |
single nucleotide variant |
RASopathy [RCV003540183] |
Chr1:114708671 [GRCh38]
Chr1:115251292 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.112-18del |
deletion |
RASopathy [RCV003540099] |
Chr1:114713996 [GRCh38]
Chr1:115256617 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.526G>T (p.Asp176Tyr) |
single nucleotide variant |
RASopathy [RCV003540218] |
Chr1:114708579 [GRCh38]
Chr1:115251200 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.404A>G (p.Lys135Arg) |
single nucleotide variant |
RASopathy [RCV003540268] |
Chr1:114709615 [GRCh38]
Chr1:115252236 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.166C>G (p.Leu56Val) |
single nucleotide variant |
RASopathy [RCV003540240] |
Chr1:114713924 [GRCh38]
Chr1:115256545 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.34_35delinsTT (p.Gly12Phe) |
indel |
NRAS-related disorder [RCV003896707] |
Chr1:114716126..114716127 [GRCh38]
Chr1:115258747..115258748 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| NM_002524.5(NRAS):c.272C>G (p.Ala91Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV004516041] |
Chr1:114713818 [GRCh38]
Chr1:115256439 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.385C>G (p.Gln129Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004493430] |
Chr1:114709634 [GRCh38]
Chr1:115252255 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.203G>T (p.Arg68Ile) |
single nucleotide variant |
Noonan syndrome 6 [RCV004698372] |
Chr1:114713887 [GRCh38]
Chr1:115256508 [GRCh37]
Chr1:1p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_002524.5(NRAS):c.491G>T (p.Arg164Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004638680] |
Chr1:114708614 [GRCh38]
Chr1:115251235 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NC_000001.10:g.(?_114437687)_(115576848_?)del |
deletion |
RASopathy [RCV004579033] |
Chr1:114437687..115576848 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NC_000001.10:g.(?_115215735)_(115258781_?)dup |
duplication |
RASopathy [RCV004579034] |
Chr1:115215735..115258781 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.119A>G (p.Tyr40Cys) |
single nucleotide variant |
not provided [RCV004766376] |
Chr1:114713971 [GRCh38]
Chr1:115256592 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.423C>G (p.Phe141Leu) |
single nucleotide variant |
NRAS-related disorder [RCV004731459] |
Chr1:114709596 [GRCh38]
Chr1:115252217 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.542G>A (p.Cys181Tyr) |
single nucleotide variant |
not provided [RCV004771030] |
Chr1:114708563 [GRCh38]
Chr1:115251184 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.254A>G (p.Asn85Ser) |
single nucleotide variant |
not provided [RCV004775855] |
Chr1:114713836 [GRCh38]
Chr1:115256457 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.411C>G (p.Tyr137Ter) |
single nucleotide variant |
NRAS-related disorder [RCV004730384] |
Chr1:114709608 [GRCh38]
Chr1:115252229 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.51C>T (p.Ser17=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004989069] |
Chr1:114716110 [GRCh38]
Chr1:115258731 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.463G>A (p.Ala155Thr) |
single nucleotide variant |
RASopathy [RCV005172845] |
Chr1:114708642 [GRCh38]
Chr1:115251263 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.504G>A (p.Met168Ile) |
single nucleotide variant |
RASopathy [RCV005064087] |
Chr1:114708601 [GRCh38]
Chr1:115251222 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.468T>C (p.Phe156=) |
single nucleotide variant |
RASopathy [RCV005063767] |
Chr1:114708637 [GRCh38]
Chr1:115251258 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.88G>A (p.Asp30Asn) |
single nucleotide variant |
not specified [RCV005088292] |
Chr1:114716073 [GRCh38]
Chr1:115258694 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.112-8A>C |
single nucleotide variant |
RASopathy [RCV005199588] |
Chr1:114713986 [GRCh38]
Chr1:115256607 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.286T>C (p.Tyr96His) |
single nucleotide variant |
RASopathy [RCV005113652] |
Chr1:114713804 [GRCh38]
Chr1:115256425 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.112-19T>C |
single nucleotide variant |
RASopathy [RCV005192990] |
Chr1:114713997 [GRCh38]
Chr1:115256618 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.364A>G (p.Thr122Ala) |
single nucleotide variant |
RASopathy [RCV005153425] |
Chr1:114709655 [GRCh38]
Chr1:115252276 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.454G>A (p.Val152Ile) |
single nucleotide variant |
RASopathy [RCV005144431] |
Chr1:114708651 [GRCh38]
Chr1:115251272 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.112-10A>C |
single nucleotide variant |
RASopathy [RCV005199589] |
Chr1:114713988 [GRCh38]
Chr1:115256609 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.528T>C (p.Asp176=) |
single nucleotide variant |
RASopathy [RCV005131779] |
Chr1:114708577 [GRCh38]
Chr1:115251198 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.511C>T (p.Leu171Phe) |
single nucleotide variant |
RASopathy [RCV005152653] |
Chr1:114708594 [GRCh38]
Chr1:115251215 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.441G>A (p.Lys147=) |
single nucleotide variant |
RASopathy [RCV005203308] |
Chr1:114709578 [GRCh38]
Chr1:115252199 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.290+12A>T |
single nucleotide variant |
RASopathy [RCV005072424] |
Chr1:114713788 [GRCh38]
Chr1:115256409 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.546G>A (p.Met182Ile) |
single nucleotide variant |
RASopathy [RCV005111355] |
Chr1:114708559 [GRCh38]
Chr1:115251180 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.145G>C (p.Glu49Gln) |
single nucleotide variant |
RASopathy [RCV005131186] |
Chr1:114713945 [GRCh38]
Chr1:115256566 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
