| NM_002524.5(NRAS):c.464C>T (p.Ala155Val) |
single nucleotide variant |
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|other |
| NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) |
single nucleotide variant |
Acute myeloid leukemia [RCV000440357]|Adenocarcinoma of stomach [RCV000430350]|Cutaneous melanoma [RCV000431020]|Juvenile myelomonocytic leukemia [RCV000014915]|Malignant melanoma of skin [RCV000422699]|Medulloblastoma [RCV000421906]|Multiple myeloma [RCV000433031]|Myelodysplastic syndrome [RCV000431528]|Neoplasm of the large intestine [RCV000440593]|Non-Hodgkin lymphoma [RCV000442419]|Noonan syndrome 6 [RCV000022690]|RAS-associated autoimmune leukoproliferative disorder [RCV000144962]|Transitional cell carcinoma of the bladder [RCV000421229]|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 |
| NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) |
single nucleotide variant |
Noonan syndrome 1 [RCV000208552]|Noonan syndrome 6 [RCV000014917]|not provided [RCV000158982] |
Chr1:114713911 [GRCh38]
Chr1:115256532 [GRCh37]
Chr1:1p13.2 |
pathogenic |
| NM_002524.5(NRAS):c.25G>A (p.Val9Ile) |
single nucleotide variant |
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]|Adenocarcinoma of stomach [RCV000427817]|Carcinoma of colon [RCV000014913]|Cutaneous melanoma [RCV000424942]|Large congenital melanocytic nevus [RCV000114743]|Malignant melanoma of skin [RCV000444449]|Medulloblastoma [RCV000419545]|Multiple myeloma [RCV000426328]|Myelodysplastic syndrome [RCV000428963]|Neoplasm of the large intestine [RCV000434327]|Non-Hodgkin lymphoma [RCV000437450]|Transitional cell carcinoma of the bladder [RCV000419583] |
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 |
Acute myeloid leukemia [RCV000441317]|Adenocarcinoma of stomach [RCV000439264]|Adrenocortical carcinoma [RCV000422078]|Chronic lymphocytic leukemia [RCV000420832]|Cutaneous melanoma [RCV000424960]|Epidermal nevus [RCV000032847]|Epidermal nevus syndrome [RCV000148032]|Follicular thyroid carcinoma [RCV000014914]|Glioblastoma [RCV000438052]|Hepatocellular carcinoma [RCV000432961]|Large congenital melanocytic nevus [RCV000114744]|Lung adenocarcinoma [RCV000424721]|Malignant melanoma of skin [RCV000430407]|Malignant neoplasm of body of uterus [RCV000445249]|Multiple myeloma [RCV000431883]|Nasopharyngeal Neoplasms [RCV000430593]|Neoplasm of brain [RCV000424455]|Neoplasm of the large intestine [RCV000435687]|Neurocutaneous melanocytosis [RCV000114745]|Non-small cell lung cancer [RCV000037574]|Ovarian Serous Cystadenocarcinoma [RCV000422278]|Renal cell carcinoma, papillary, 1 [RCV000419710]|Transitional cell carcinoma of the bladder [RCV000440367]|not provided [RCV000413804] |
Chr1:114713908 [GRCh38]
Chr1:115256529 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic|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 |
Acute myeloid leukemia [RCV000436228]|Adenocarcinoma of stomach [RCV000434517]|Cutaneous melanoma [RCV000417869]|Epidermal nevus [RCV000032849]|Juvenile myelomonocytic leukemia [RCV000144963]|Malignant melanoma of skin [RCV000440963]|Malignant neoplasm of body of uterus [RCV000430706]|Multiple myeloma [RCV000417702]|Myelodysplastic syndrome [RCV000424239]|Neoplasm of the large intestine [RCV000427949]|Non-small cell lung cancer [RCV000439064]|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 specified [RCV000037575] |
Chr1:114709736 [GRCh38]
Chr1:115252357 [GRCh37]
Chr1:1p13.2 |
likely benign|uncertain significance |
| NM_002524.5(NRAS):c.35G>T (p.Gly12Val) |
single nucleotide variant |
Acute myeloid leukemia [RCV000429393]|Adenocarcinoma of stomach [RCV000423890]|Cutaneous melanoma [RCV000419124]|Malignant melanoma of skin [RCV000438750]|Malignant neoplasm of body of uterus [RCV000438967]|Multiple myeloma [RCV000421072]|Myelodysplastic syndrome [RCV000432178]|Neoplasm of the large intestine [RCV000439421]|Noonan syndrome [RCV000037576]|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 |
Noonan syndrome 6 [RCV001100796]|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 |
Acute myeloid leukemia [RCV000418907]|Adenocarcinoma of stomach [RCV000441348]|Adrenocortical carcinoma [RCV000431313]|Chronic lymphocytic leukemia [RCV000418269]|Cutaneous melanoma [RCV000434388]|Glioblastoma [RCV000428264]|Hepatocellular carcinoma [RCV000441559]|Large congenital melanocytic nevus [RCV000114746]|Lung adenocarcinoma [RCV000433274]|Malignant melanoma of skin [RCV000436806]|Malignant neoplasm of body of uterus [RCV000436588]|Multiple myeloma [RCV000444882]|Nasopharyngeal Neoplasms [RCV000426976]|Neoplasm of brain [RCV000435041]|Neoplasm of the large intestine [RCV000444538]|Neuroblastoma [RCV000423656]|Neurocutaneous melanocytosis [RCV000144964]|Non-small cell lung cancer [RCV000425440]|Ovarian Serous Cystadenocarcinoma [RCV000443974]|RAS Inhibitor response [RCV000626456]|Rasopathy [RCV000696329]|Renal cell carcinoma, papillary, 1 [RCV000423012]|Transitional cell carcinoma of the bladder [RCV000428499]|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 |
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 |
Noonan syndrome 6 [RCV001101050]|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 specified [RCV000127229] |
Chr1:114716690 [GRCh38]
Chr1:115259311 [GRCh37]
Chr1:1p13.2 |
benign|likely benign|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 |
Noonan syndrome 6 [RCV000373742]|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 |
Acute myeloid leukemia [RCV000445150]|Adenocarcinoma of stomach [RCV000442594]|Cutaneous melanoma [RCV000431995]|Juvenile myelomonocytic leukemia [RCV000158978]|Malignant melanoma of skin [RCV000421993]|Malignant neoplasm of body of uterus [RCV000427184]|Multiple myeloma [RCV000433097]|Myelodysplastic syndrome [RCV000430288]|Neoplasm of the large intestine [RCV000439216]|Non-small cell lung cancer [RCV000421327]|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 |
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 |
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 |
Rasopathy [RCV000534894]|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 |
Acute myeloid leukemia [RCV000433830]|Adenocarcinoma of stomach [RCV000432311]|Cutaneous melanoma [RCV000444830]|Malignant melanoma of skin [RCV000435186]|Malignant neoplasm of body of uterus [RCV000422059]|Multiple myeloma [RCV000425805]|Myelodysplastic syndrome [RCV000445013]|Neoplasm of the large intestine [RCV000422738]|Non-small cell lung cancer [RCV000440380]|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 |
Acute myeloid leukemia [RCV000423088]|Adenocarcinoma of stomach [RCV000420637]|Chronic myelogenous leukemia, BCR-ABL1 positive [RCV000430635]|Cutaneous melanoma [RCV000444217]|Malignant melanoma of skin [RCV000430032]|Malignant neoplasm of body of uterus [RCV000438291]|Multiple myeloma [RCV000420396]|Myelodysplastic syndrome [RCV000440262]|Neoplasm of the large intestine [RCV000435447]|Non-small cell lung cancer [RCV000425150]|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 |
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 |
not provided [RCV000158981] |
Chr1:114713915 [GRCh38]
Chr1:115256536 [GRCh37]
Chr1:1p13.2 |
likely pathogenic |
| 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 |
| NM_002524.5(NRAS):c.334G>T (p.Val112Leu) |
single nucleotide variant |
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 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 |
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 |
Acute myeloid leukemia [RCV000444278]|Adenocarcinoma of stomach [RCV000421291]|Adrenocortical carcinoma [RCV000419053]|Chronic lymphocytic leukemia [RCV000420302]|Cutaneous melanoma [RCV000431592]|Glioblastoma [RCV000432170]|Hepatocellular carcinoma [RCV000437545]|Lung adenocarcinoma [RCV000439765]|Malignant melanoma of skin [RCV000427746]|Malignant neoplasm of body of uterus [RCV000421496]|Multiple myeloma [RCV000419201]|Nasopharyngeal Neoplasms [RCV000426654]|Neoplasm of brain [RCV000434604]|Neoplasm of the large intestine [RCV000430000]|Neoplasm of the thyroid gland [RCV000438468]|Non-small cell lung cancer [RCV000428903]|Ovarian Serous Cystadenocarcinoma [RCV000439526]|Renal cell carcinoma, papillary, 1 [RCV000444660]|Transitional cell carcinoma of the bladder [RCV000437312]|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 |
Acute myeloid leukemia [RCV000426950]|Adenocarcinoma of stomach [RCV000433455]|Cutaneous melanoma [RCV000434113]|Malignant melanoma of skin [RCV000444591]|Malignant neoplasm of body of uterus [RCV000437165]|Multiple myeloma [RCV000418647]|Myelodysplastic syndrome [RCV000425963]|Myelodysplastic syndrome progressed to acute myeloid leukemia [RCV000203450]|Neoplasm of the large intestine [RCV000444670]|Non-small cell lung cancer [RCV000427550]|not provided [RCV000380895] |
Chr1:114716126 [GRCh38]
Chr1:115258747 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.71T>A (p.Ile24Asn) |
single nucleotide variant |
Noonan syndrome 1 [RCV000208553]|not provided [RCV000522652] |
Chr1:114716090 [GRCh38]
Chr1:115258711 [GRCh37]
Chr1:1p13.2 |
pathogenic |
| 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] |
Chr1:114708644 [GRCh38]
Chr1:115251265 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.5(NRAS):c.290+15A>C |
single nucleotide variant |
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] |
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] |
Chr1:114705581 [GRCh38]
Chr1:115248202 [GRCh37]
Chr1:1p13.2 |
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] |
Chr1:114707983 [GRCh38]
Chr1:115250604 [GRCh37]
Chr1:1p13.2 |
uncertain significance |
| NM_002524.4(NRAS):c.-208T>A |
single nucleotide variant |
Noonan syndrome [RCV000288966] |
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] |
Chr1:114705289 [GRCh38]
Chr1:115247910 [GRCh37]
Chr1:1p13.2 |
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] |
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] |
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] |
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] |
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 |
Acute myeloid leukemia [RCV000419887]|Adenocarcinoma of stomach [RCV000436881]|Adrenocortical carcinoma [RCV000427364]|Chronic lymphocytic leukemia [RCV000429704]|Cutaneous melanoma [RCV000438233]|Glioblastoma [RCV000418758]|Hepatocellular carcinoma [RCV000420139]|Lung adenocarcinoma [RCV000439308]|Malignant melanoma of skin [RCV000428418]|Malignant neoplasm of body of uterus [RCV000431603]|Multiple myeloma [RCV000424220]|Nasopharyngeal Neoplasms [RCV000422093]|Neoplasm of brain [RCV000444600]|Neoplasm of the large intestine [RCV000437158]|Neoplasm of the thyroid gland [RCV000420910]|Ovarian Serous Cystadenocarcinoma [RCV000429512]|Renal cell carcinoma, papillary, 1 [RCV000439006]|Transitional cell carcinoma of the bladder [RCV000434043]|not provided [RCV000414646] |
Chr1:114713907 [GRCh38]
Chr1:115256528 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| 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 |
Cutaneous melanoma [RCV000420759] |
Chr1:114716123 [GRCh38]
Chr1:115258744 [GRCh37]
Chr1:1p13.2 |
pathogenic |
| NM_002524.5(NRAS):c.181C>G (p.Gln61Glu) |
single nucleotide variant |
Cutaneous 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 |
Cutaneous 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 |
Cutaneous melanoma [RCV000425830] |
Chr1:114713907..114713908 [GRCh38]
Chr1:115256528..115256529 [GRCh37]
Chr1:1p13.2 |
pathogenic |
| NM_002524.5(NRAS):c.181_182delinsAG (p.Gln61Arg) |
indel |
Cutaneous 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 |
Cutaneous 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 |
Cutaneous 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 |
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 |
Cutaneous 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 |
not provided [RCV000422469] |
Chr1:114709551 [GRCh38]
Chr1:115252172 [GRCh37]
Chr1:1p13.2 |
benign |
| NM_002524.5(NRAS):c.38G>T (p.Gly13Val) |
single nucleotide variant |
Acute myeloid leukemia [RCV000432522]|Adenocarcinoma of stomach [RCV000435607]|Cutaneous melanoma [RCV000423218]|Malignant melanoma of skin [RCV000425977]|Medulloblastoma [RCV000430805]|Multiple myeloma [RCV000424444]|Myelodysplastic syndrome [RCV000444067]|Neoplasm [RCV000417850]|Neoplasm of the large intestine [RCV000445025]|Non-Hodgkin lymphoma [RCV000437557]|Transitional cell carcinoma of the bladder [RCV000436237] |
Chr1:114716123 [GRCh38]
Chr1:115258744 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) |
single nucleotide variant |
Acute myeloid leukemia [RCV000424084]|Adenocarcinoma of stomach [RCV000444899]|Adrenocortical carcinoma [RCV000444188]|Chronic lymphocytic leukemia [RCV000433761]|Cutaneous melanoma [RCV000436539]|Glioblastoma [RCV000422640]|Hepatocellular carcinoma [RCV000423898]|Lung adenocarcinoma [RCV000433349]|Malignant melanoma of skin [RCV000435905]|Malignant neoplasm of body of uterus [RCV000418220]|Multiple myeloma [RCV000428055]|Nasopharyngeal Neoplasms [RCV000444754]|Neoplasm of brain [RCV000441171]|Neoplasm of the large intestine [RCV000418396]|Neoplasm of the thyroid gland [RCV000431333]|Non-small cell lung cancer [RCV000435412]|Ovarian Serous Cystadenocarcinoma [RCV000429082]|Renal cell carcinoma, papillary, 1 [RCV000426122]|Transitional cell carcinoma of the bladder [RCV000438738] |
Chr1:114713908 [GRCh38]
Chr1:115256529 [GRCh37]
Chr1:1p13.2 |
pathogenic|likely pathogenic |
| NM_002524.5(NRAS):c.183A>C (p.Gln61His) |
single nucleotide variant |
Acute myeloid leukemia [RCV000436751]|Cutaneous melanoma [RCV000443672]|Non-small cell lung cancer [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 |
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 |
Noonan syndrome 6 [RCV001101051]|not provided [RCV000427012] |
Chr1:114716125 [GRCh38]
Chr1:115258746 [GRCh37]
Chr1:1p13.2 |
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 |
Rasopathy [RCV000460147]|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 |
not provided [RCV000480713] |
Chr1:114708673..114708675 [GRCh38]
Chr1:115251294..115251296 [GRCh37]
Chr1:1p13.2 |
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] |
Chr1:114709626 [GRCh38]
Chr1:115252247 [GRCh37]
Chr1:1p13.2 |
likely benign |
| NM_002524.5(NRAS):c.432C>T (p.Thr144=) |
single nucleotide variant |
not specified [RCV000603088] |
Chr1:114709587 [GRCh38]
Chr1:115252208 [GRCh37]
Chr1:1p13.2 |
likely benign |
| 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 |
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 |
Rasopathy [RCV001042539]|not provided [RCV000680636] |
Chr1:114716130 [GRCh38]
Chr1:115258751 [GRCh37]
Chr1:1p13.2 |
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.176C>A (p.Ala59Asp) |
single nucleotide variant |
Anemia [RCV001003789] |
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 |
not provided [RCV000940687] |
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] |
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 |
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 |
not provided [RCV000942519] |
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.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.*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] |
Chr1:114705476 [GRCh38]
Chr1:115248097 [GRCh37]
Chr1:1p13.2 |
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.*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 |
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 |
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] |
Chr1:114713984 [GRCh38]
Chr1:115256605 [GRCh37]
Chr1:1p13.2 |
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 |
Gene-Chemical Interaction Annotations
