NM_005343.4(HRAS):c.441G>A (p.Lys147=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002330854]|Costello syndrome [RCV001494759] |
Chr11:533462 [GRCh38] Chr11:533462 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) |
single nucleotide variant |
Acute myeloid leukemia [RCV000424380]|Adenoid cystic carcinoma [RCV000443826]|Breast neoplasm [RCV000424087]|Carcinoma of esophagus [RCV000436802]|Costello syndrome [RCV000013447]|Epidermal nevus [RCV000032851]|Gastric adenocarcinoma [RCV000428012]|Glioblastoma [RCV000434677]|Hepatocellular carcinoma [RCV000418395]|Large congenital melanocytic nevus [RCV000762849]|Lung adenocarcinoma [RCV000426992]|Malignant melanoma of skin [RCV000429404]|Malignant neoplasm of body of uterus [RCV000439243]|Multiple myeloma [RCV000436505]|Myelodysplastic syndrome [RCV000419553]|Nasopharyngeal neoplasm [RCV000431815]|Neoplasm of the large intestine [RCV000421701]|Neoplasm of uterine cervix [RCV000438707]|Nevus sebaceous [RCV000029211]|Ovarian serous cystadenocarcinoma [RCV000431602]|Pancreatic adenocarcinoma [RCV000444512]|Papillary renal cell carcinoma, sporadic [RCV000427213]|Prostate adenocarcinoma [RCV000443678]|RASopathy [RCV000149829]|Squamous cell carcinoma of the head and neck [RCV000438902]|Squamous cell carcinoma of the skin [RCV000422023]|Thyroid tumor [RCV000429096]|Transitional cell carcinoma of the bladder [RCV000445233]|Urinary bladder carcinoma [RCV000440052]|Uterine carcinosarcoma [RCV000437868]|not provided [RCV000212495] |
Chr11:534289 [GRCh38] Chr11:534289 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|other |
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) |
single nucleotide variant |
Acute myeloid leukemia [RCV000439826]|B-cell chronic lymphocytic leukemia [RCV000420422]|Breast neoplasm [RCV000432361]|Costello syndrome [RCV001781319]|Epidermal nevus [RCV000032852]|Epidermolytic nevus [RCV003458340]|Gastric adenocarcinoma [RCV000424371]|Hepatocellular carcinoma [RCV000430065]|Linear nevus sebaceous syndrome [RCV000029213]|Lip and oral cavity carcinoma [RCV001255682]|Lung adenocarcinoma [RCV000439525]|Malignant melanoma of skin [RCV000430227]|Malignant neoplasm of body of uterus [RCV000422625]|Multiple myeloma [RCV000443949]|NEVUS SPILUS, SOMATIC [RCV000173005]|Neoplasm of the large intestine [RCV000420481]|Neoplasm of uterine cervix [RCV000440902]|Nevus sebaceous [RCV000029212]|Non-immune hydrops fetalis [RCV001376004]|Noonan syndrome and Noonan-related syndrome [RCV001813211]|Pancreatic adenocarcinoma [RCV000427669]|SPITZ NEVUS, SOMATIC [RCV000173006]|Squamous cell carcinoma of the head and neck [RCV000431824]|Squamous cell carcinoma of the skin [RCV000435072]|Squamous cell lung carcinoma [RCV000419344]|Thyroid tumor [RCV000418725]|Transitional cell carcinoma of the bladder [RCV000437649]|cutaneous-skeletal hypophosphatemia syndrome [RCV001849283] |
Chr11:534286 [GRCh38] Chr11:534286 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|other |
NM_005343.4(HRAS):c.110_111+1dup |
duplication |
Costello syndrome [RCV000022797] |
Chr11:534210..534211 [GRCh38] Chr11:534210..534211 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.108_110dup (p.Glu37dup) |
duplication |
Costello syndrome [RCV000022798] |
Chr11:534212..534213 [GRCh38] Chr11:534212..534213 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) |
single nucleotide variant |
Costello syndrome [RCV000013432]|Epidermal nevus [RCV000032850]|HRAS-related condition [RCV003415692]|Inborn genetic diseases [RCV003352749]|Malignant tumor of urinary bladder [RCV000013431]|Melanoma [RCV000428111]|Myopathy, congenital, with excess of muscle spindles [RCV000013433]|Thyroid tumor [RCV000438340]|not provided [RCV000157912] |
Chr11:534288 [GRCh38] Chr11:534288 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|other |
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) |
single nucleotide variant |
Breast neoplasm [RCV000439343]|Lip and oral cavity carcinoma [RCV001255683]|Noonan syndrome 3 [RCV000587258]|Spermatocytic seminoma [RCV000022795]|Thyroid cancer, nonmedullary, 2 [RCV000013434]|not provided [RCV000681435] |
Chr11:533875 [GRCh38] Chr11:533875 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|other |
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) |
single nucleotide variant |
Acute myeloid leukemia [RCV000422656]|Adenoid cystic carcinoma [RCV000440993]|Breast neoplasm [RCV000430608]|Carcinoma of esophagus [RCV000445039]|Cardiovascular phenotype [RCV002453256]|Costello syndrome [RCV000013435]|Epidermal nevus [RCV003450636]|Epidermal nevus with urothelial cancer, somatic [RCV000022796]|Gastric adenocarcinoma [RCV000423310]|Glioblastoma [RCV000432984]|HRAS-related condition [RCV003398496]|Hepatocellular carcinoma [RCV000440237]|Inborn genetic diseases [RCV001267097]|Lip and oral cavity carcinoma [RCV001255689]|Lung adenocarcinoma [RCV000420366]|Malignant melanoma of skin [RCV000419709]|Malignant neoplasm of body of uterus [RCV000430725]|Multiple myeloma [RCV000440297]|Myelodysplastic syndrome [RCV000440863]|Myopathy, congenital, with excess of muscle spindles [RCV000013436]|Nasopharyngeal neoplasm [RCV000422253]|Neoplasm of the large intestine [RCV000443940]|Neoplasm of uterine cervix [RCV000438022]|Nevus sebaceous [RCV000029209]|Noonan syndrome 1 [RCV003450635]|Noonan syndrome and Noonan-related syndrome [RCV001813185]|Ovarian serous cystadenocarcinoma [RCV000430011]|Pancreatic adenocarcinoma [RCV000433576]|Papillary renal cell carcinoma, sporadic [RCV000432342]|Prostate adenocarcinoma [RCV000427772]|RASopathy [RCV000149828]|Rhabdomyosarcoma [RCV001257537]|See cases [RCV003156059]|Squamous cell carcinoma of the head and neck [RCV000424896]|Squamous cell carcinoma of the skin [RCV000432945]|Thyroid tumor [RCV000425542]|Transitional cell carcinoma of the bladder [RCV000435163]|Uterine carcinosarcoma [RCV000417494]|Wooly hair nevus [RCV000487471]|not provided [RCV000081295] |
Chr11:534289 [GRCh38] Chr11:534289 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|other |
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) |
single nucleotide variant |
Acute myeloid leukemia [RCV000436832]|Adenoid cystic carcinoma [RCV000418547]|Breast neoplasm [RCV000435805]|Carcinoma of esophagus [RCV000423741]|Costello syndrome [RCV000013437]|Gastric adenocarcinoma [RCV000426130]|Glioblastoma [RCV000440663]|Hepatocellular carcinoma [RCV000433266]|Inborn genetic diseases [RCV000623953]|Large congenital melanocytic nevus [RCV000762848]|Lung adenocarcinoma [RCV000445090]|Malignant melanoma of skin [RCV000417508]|Malignant neoplasm of body of uterus [RCV000423413]|Multiple myeloma [RCV000444092]|Myelodysplastic syndrome [RCV000442448]|Nasopharyngeal neoplasm [RCV000428375]|Neoplasm of the large intestine [RCV000422263]|Neoplasm of uterine cervix [RCV000441501]|Noonan syndrome and Noonan-related syndrome [RCV001813186]|Ovarian serous cystadenocarcinoma [RCV000423622]|Pancreatic adenocarcinoma [RCV000445257]|Papillary renal cell carcinoma, sporadic [RCV000430806]|Prostate adenocarcinoma [RCV000433587]|Rhabdomyosarcoma [RCV001257536]|Squamous cell carcinoma of the head and neck [RCV000432956]|Squamous cell carcinoma of the skin [RCV000435619]|Thyroid tumor [RCV000428172]|Transitional cell carcinoma of the bladder [RCV000425989]|Uterine carcinosarcoma [RCV000425511]|not provided [RCV000207503] |
Chr11:534288 [GRCh38] Chr11:534288 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic |
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) |
single nucleotide variant |
Costello syndrome [RCV000013438]|HRAS-related condition [RCV003390677]|Large congenital melanocytic nevus [RCV002476960]|Neoplasm of the large intestine [RCV000439514]|Non-immune hydrops fetalis [RCV001376018]|Noonan syndrome and Noonan-related syndrome [RCV001813187]|RASopathy [RCV000781469]|not provided [RCV000157913] |
Chr11:534285 [GRCh38] Chr11:534285 [GRCh37] Chr11:11p15.5 |
pathogenic|not provided |
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) |
single nucleotide variant |
Acute myeloid leukemia [RCV000434059]|Costello syndrome [RCV000013441]|Gastric adenocarcinoma [RCV000427320]|Lung adenocarcinoma [RCV000444836]|Multiple myeloma [RCV000420974]|Neoplasm of the large intestine [RCV000432069]|Neoplasm of uterine cervix [RCV000438623] |
Chr11:533467 [GRCh38] Chr11:533467 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic |
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) |
single nucleotide variant |
Costello syndrome [RCV002272015]|Myopathy, congenital, with excess of muscle spindles [RCV000013442]|not provided [RCV000485616] |
Chr11:533869 [GRCh38] Chr11:533869 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) |
single nucleotide variant |
Costello syndrome [RCV000143898]|Myopathy, congenital, with excess of muscle spindles [RCV000013443]|not provided [RCV000157915] |
Chr11:534259 [GRCh38] Chr11:534259 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic |
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) |
single nucleotide variant |
Acute myeloid leukemia [RCV000436710]|Costello syndrome [RCV000013445]|Gastric adenocarcinoma [RCV000427529]|Lung adenocarcinoma [RCV000444744]|Multiple myeloma [RCV000426668]|Neoplasm of the large intestine [RCV000419902]|Neoplasm of uterine cervix [RCV000436017] |
Chr11:533466 [GRCh38] Chr11:533466 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) |
single nucleotide variant |
Breast neoplasm [RCV000429375]|Costello syndrome [RCV000038460]|Costello syndrome, severe [RCV000013446]|Lip and oral cavity carcinoma [RCV001255681]|Nevus sebaceous [RCV000029210]|Non-immune hydrops fetalis [RCV001375956]|Noonan syndrome and Noonan-related syndrome [RCV001813189]|RASopathy [RCV000149830]|not provided [RCV000212496] |
Chr11:534288 [GRCh38] Chr11:534288 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|other |
NM_005343.4(HRAS):c.290+9C>T |
single nucleotide variant |
Costello syndrome [RCV001425103] |
Chr11:533757 [GRCh38] Chr11:533757 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) |
single nucleotide variant |
Costello syndrome [RCV000526328]|Intellectual disability [RCV001260727] |
Chr11:532688 [GRCh38] Chr11:532688 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) |
single nucleotide variant |
Costello syndrome [RCV000013439]|not provided [RCV000353386] |
Chr11:533553 [GRCh38] Chr11:533553 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) |
single nucleotide variant |
Acute myeloid leukemia [RCV000433893]|B-cell chronic lymphocytic leukemia [RCV000434069]|Breast neoplasm [RCV000424247]|Costello syndrome [RCV000013440]|Gastric adenocarcinoma [RCV000439052]|HRAS-related condition [RCV003421918]|Hepatocellular carcinoma [RCV000445336]|Large congenital melanocytic nevus [RCV000762847]|Lung adenocarcinoma [RCV000420958]|Malignant melanoma of skin [RCV000426653]|Malignant neoplasm of body of uterus [RCV000436205]|Multiple myeloma [RCV000417661]|Neoplasm [RCV000439954]|Neoplasm of the large intestine [RCV000444110]|Neoplasm of uterine cervix [RCV000445225]|Noonan syndrome [RCV000678903]|Noonan syndrome and Noonan-related syndrome [RCV001813188]|Pancreatic adenocarcinoma [RCV000425964]|RASopathy [RCV000149831]|Squamous cell carcinoma of the head and neck [RCV000423190]|Squamous cell carcinoma of the skin [RCV000441514]|Squamous cell lung carcinoma [RCV000431688]|Thyroid tumor [RCV000428812]|Transitional cell carcinoma of the bladder [RCV000436007]|not provided [RCV000207504] |
Chr11:534286 [GRCh38] Chr11:534286 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic |
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) |
single nucleotide variant |
Costello syndrome [RCV000013444]|not provided [RCV003221783] |
Chr11:533883 [GRCh38] Chr11:533883 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup) |
duplication |
Costello syndrome [RCV000106320] |
Chr11:533848..533849 [GRCh38] Chr11:533848..533849 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.111+15G>A |
single nucleotide variant |
Costello syndrome [RCV002054538]|not provided [RCV001636610]|not specified [RCV000038454] |
Chr11:534197 [GRCh38] Chr11:534197 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.249C>T (p.Ala83=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162337]|Costello syndrome [RCV000531092]|HRAS-related condition [RCV003964858]|Hereditary cancer-predisposing syndrome [RCV002257382]|not specified [RCV000038455] |
Chr11:533807 [GRCh38] Chr11:533807 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.282C>T (p.His94=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002433504]|Costello syndrome [RCV001458613]|HRAS-related condition [RCV003894865]|not specified [RCV000038456] |
Chr11:533774 [GRCh38] Chr11:533774 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.330C>T (p.Pro110=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321512]|Costello syndrome [RCV000467667]|Large congenital melanocytic nevus [RCV002490523]|Noonan syndrome and Noonan-related syndrome [RCV001813351]|not specified [RCV000038457] |
Chr11:533573 [GRCh38] Chr11:533573 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005343.4(HRAS):c.357C>T (p.Asp119=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453280]|Costello syndrome [RCV000227939]|HRAS-related condition [RCV003924885]|Hereditary cancer-predisposing syndrome [RCV002257371]|Large congenital melanocytic nevus [RCV002477043]|Noonan syndrome and Noonan-related syndrome [RCV001813236]|RASopathy [RCV000522686]|not provided [RCV001711139]|not specified [RCV000038458] |
Chr11:533546 [GRCh38] Chr11:533546 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.358C>T (p.Leu120=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003362675]|Costello syndrome [RCV000457956]|not specified [RCV000038459] |
Chr11:533545 [GRCh38] Chr11:533545 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.363T>C (p.Ala121=) |
single nucleotide variant |
Costello syndrome [RCV000560800]|Noonan syndrome and Noonan-related syndrome [RCV001813352]|not provided [RCV001659973]|not specified [RCV000038461] |
Chr11:533540 [GRCh38] Chr11:533540 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.378A>G (p.Glu126=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345262]|Costello syndrome [RCV001081660]|Noonan syndrome and Noonan-related syndrome [RCV001813237]|RASopathy [RCV000519017]|not provided [RCV000588072]|not specified [RCV000038462] |
Chr11:533525 [GRCh38] Chr11:533525 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) |
single nucleotide variant |
Costello syndrome [RCV000230783]|not specified [RCV000038463] |
Chr11:533502 [GRCh38] Chr11:533502 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) |
single nucleotide variant |
Costello syndrome [RCV000548489]|HRAS-related condition [RCV003421952]|Hereditary cancer-predisposing syndrome [RCV002257383]|RASopathy [RCV001030071]|not provided [RCV000681055]|not specified [RCV000038464] |
Chr11:533491 [GRCh38] Chr11:533491 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.477G>A (p.Leu159=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336104]|Costello syndrome [RCV000234776]|Hereditary cancer-predisposing syndrome [RCV002257372]|Noonan syndrome and Noonan-related syndrome [RCV001813238]|RASopathy [RCV000522477]|not provided [RCV001538584]|not specified [RCV000038465] |
Chr11:532729 [GRCh38] Chr11:532729 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005343.4(HRAS):c.510G>A (p.Lys170=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003162338]|Costello syndrome [RCV000473658]|RASopathy [RCV000520548]|not specified [RCV000038466] |
Chr11:532696 [GRCh38] Chr11:532696 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) |
single nucleotide variant |
Costello syndrome [RCV000234040]|HRAS-related condition [RCV003944865]|Hereditary cancer-predisposing syndrome [RCV002258783]|Large congenital melanocytic nevus [RCV000755642]|RASopathy [RCV000520658]|not specified [RCV000038467] |
Chr11:532686 [GRCh38] Chr11:532686 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005343.4(HRAS):c.81T>C (p.His27=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426537]|Costello syndrome [RCV000659682]|Noonan syndrome and Noonan-related syndrome [RCV001813233]|RASopathy [RCV000149841]|Squamous cell lung carcinoma [RCV001250943]|not provided [RCV000509400]|not specified [RCV000038468] |
Chr11:534242 [GRCh38] Chr11:534242 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 |
copy number gain |
See cases [RCV000050947] |
Chr11:196966..3377077 [GRCh38] Chr11:196966..3398307 [GRCh37] Chr11:186966..3354883 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 |
copy number gain |
See cases [RCV000050927] |
Chr11:196966..4435344 [GRCh38] Chr11:196966..4456574 [GRCh37] Chr11:186966..4413150 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 |
copy number gain |
See cases [RCV000053614] |
Chr11:218365..3377077 [GRCh38] Chr11:218365..3398307 [GRCh37] Chr11:208365..3354883 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 |
copy number gain |
See cases [RCV000053613] |
Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] |
Chr11:196966..3624139 [GRCh38] Chr11:196966..3645369 [GRCh37] Chr11:186966..3601945 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
NM_005343.4(HRAS):c.473C>T (p.Thr158Met) |
single nucleotide variant |
Costello syndrome [RCV000813562]|not specified [RCV000121201] |
Chr11:532733 [GRCh38] Chr11:532733 [GRCh37] Chr11:11p15.5 |
uncertain significance|not provided |
NM_005343.4(HRAS):c.-10C>T |
single nucleotide variant |
Costello syndrome [RCV002512524]|Noonan syndrome and Noonan-related syndrome [RCV001813385]|not provided [RCV000509255]|not specified [RCV000154268] |
Chr11:534332 [GRCh38] Chr11:534332 [GRCh37] Chr11:11p15.5 |
benign|not provided |
NM_005343.4(HRAS):c.*1C>T |
single nucleotide variant |
HRAS-related condition [RCV003894980]|not provided [RCV000588758]|not specified [RCV000125382] |
Chr11:532635 [GRCh38] Chr11:532635 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.*5+14C>A |
single nucleotide variant |
not specified [RCV000125383] |
Chr11:532617 [GRCh38] Chr11:532617 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.44G>A (p.Gly15Asp) |
single nucleotide variant |
Vascular Tumors Including Pyogenic Granuloma [RCV000662271] |
Chr11:534279 [GRCh38] Chr11:534279 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.236T>A (p.Leu79Gln) |
single nucleotide variant |
Costello syndrome [RCV001312421] |
Chr11:533820 [GRCh38] Chr11:533820 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.145G>A (p.Glu49Lys) |
single nucleotide variant |
Costello syndrome [RCV002530595]|Vascular Tumors Including Pyogenic Granuloma [RCV000662269] |
Chr11:533911 [GRCh38] Chr11:533911 [GRCh37] Chr11:11p15.5 |
likely pathogenic|uncertain significance |
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) |
single nucleotide variant |
Costello syndrome [RCV000524082]|Pulmonic stenosis [RCV000143899]|not provided [RCV000157920] |
Chr11:533779 [GRCh38] Chr11:533779 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) |
single nucleotide variant |
Linear nevus sebaceous syndrome [RCV000148033]|Neoplasm [RCV000437086]|Noonan syndrome and Noonan-related syndrome [RCV001813393]|Salivary gland neoplasm [RCV001844808]|Thyroid tumor [RCV000418550]|Vascular Tumors Including Pyogenic Granuloma [RCV000662268]|not provided [RCV000157918] |
Chr11:533874 [GRCh38] Chr11:533874 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance|not provided |
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 |
copy number gain |
See cases [RCV000133997] |
Chr11:446754..18904742 [GRCh38] Chr11:446754..18926289 [GRCh37] Chr11:436754..18882865 [NCBI36] Chr11:11p15.5-15.1 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 |
copy number gain |
See cases [RCV000139987] |
Chr11:61793..10727969 [GRCh38] Chr11:61793..10749516 [GRCh37] Chr11:51793..10706092 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 |
copy number gain |
See cases [RCV000142890] |
Chr11:196855..5321874 [GRCh38] Chr11:196855..5343104 [GRCh37] Chr11:186855..5299680 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 |
copy number gain |
See cases [RCV000142923] |
Chr11:196855..2116185 [GRCh38] Chr11:196855..2137415 [GRCh37] Chr11:186855..2093991 [NCBI36] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.45C>T (p.Gly15=) |
single nucleotide variant |
Costello syndrome [RCV000818776]|HRAS-related condition [RCV003952786]|Hereditary cancer-predisposing syndrome [RCV002257458]|not provided [RCV000585962]|not specified [RCV000155869] |
Chr11:534278 [GRCh38] Chr11:534278 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu) |
indel |
Costello syndrome [RCV000156047] |
Chr11:533880..533881 [GRCh38] Chr11:533880..533881 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.450+84C>A |
single nucleotide variant |
not specified [RCV000156318] |
Chr11:533369 [GRCh38] Chr11:533369 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.112-10C>T |
single nucleotide variant |
Costello syndrome [RCV000637313]|not specified [RCV000150833] |
Chr11:533954 [GRCh38] Chr11:533954 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) |
single nucleotide variant |
Costello syndrome [RCV000150835]|Non-small cell lung carcinoma [RCV000150834] |
Chr11:533881 [GRCh38] Chr11:533881 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) |
indel |
Costello syndrome [RCV000150836]|not provided [RCV000255809] |
Chr11:534287..534288 [GRCh38] Chr11:534287..534288 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic |
NC_000011.9:g.(?_532631)_(534375_?)dup |
duplication |
not specified [RCV000156408] |
Chr11:532631..534375 [GRCh38] Chr11:532631..534375 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) |
single nucleotide variant |
Costello syndrome [RCV000700279]|not specified [RCV000154499] |
Chr11:533485 [GRCh38] Chr11:533485 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) |
single nucleotide variant |
Costello syndrome [RCV001085194]|HRAS-related condition [RCV003944864]|Hereditary cancer-predisposing syndrome [RCV002257370]|Noonan syndrome [RCV001261051]|Noonan syndrome and Noonan-related syndrome [RCV001813234]|RASopathy [RCV000519779]|not provided [RCV000680288]|not specified [RCV000154506] |
Chr11:533799 [GRCh38] Chr11:533799 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002345496]|Costello syndrome [RCV000803493]|Large congenital melanocytic nevus [RCV002505170]|not specified [RCV000154576] |
Chr11:532701 [GRCh38] Chr11:532701 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.36C>A (p.Gly12=) |
single nucleotide variant |
not specified [RCV000154620] |
Chr11:534287 [GRCh38] Chr11:534287 [GRCh37] Chr11:11p15.5 |
not provided |
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) |
single nucleotide variant |
Costello syndrome [RCV000694918]|Inborn genetic diseases [RCV002514997]|not specified [RCV000155632] |
Chr11:534292 [GRCh38] Chr11:534292 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.450+171C>T |
single nucleotide variant |
not specified [RCV000156659] |
Chr11:533282 [GRCh38] Chr11:533282 [GRCh37] Chr11:11p15.5 |
not provided |
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) |
single nucleotide variant |
Acute myeloid leukemia [RCV000427265]|B-cell chronic lymphocytic leukemia [RCV000418565]|Breast neoplasm [RCV000444507]|Costello syndrome [RCV000590121]|Gastric adenocarcinoma [RCV000428389]|Hepatocellular carcinoma [RCV000418712]|KA-like vemurafenib-induced squamous lesions [RCV001849323]|Lip and oral cavity carcinoma [RCV001255688]|Lung adenocarcinoma [RCV000419846]|Malignant melanoma of skin [RCV000432148]|Malignant neoplasm of body of uterus [RCV000437080]|Multiple myeloma [RCV000426169]|Neoplasm of the large intestine [RCV000424767]|Neoplasm of uterine cervix [RCV000444587]|Pancreatic adenocarcinoma [RCV000421468]|Squamous cell carcinoma of the head and neck [RCV000436822]|Squamous cell carcinoma of the skin [RCV000434580]|Squamous cell lung carcinoma [RCV000429433]|Thymoma [RCV000442670]|Transitional cell carcinoma of the bladder [RCV000439230]|not provided [RCV000157914] |
Chr11:534285 [GRCh38] Chr11:534285 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic |
NM_005343.4(HRAS):c.177C>T (p.Ala59=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408711]|Costello syndrome [RCV000470354]|Hereditary cancer-predisposing syndrome [RCV002258815]|Noonan syndrome and Noonan-related syndrome [RCV001813409]|not provided [RCV003390854]|not specified [RCV000157907] |
Chr11:533879 [GRCh38] Chr11:533879 [GRCh37] Chr11:11p15.5 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_176795.5(HRAS):c.500C>T (p.Pro167Leu) |
single nucleotide variant |
not specified [RCV000157908] |
Chr11:533309 [GRCh38] Chr11:533309 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) |
single nucleotide variant |
Costello syndrome [RCV000551172]|Large congenital melanocytic nevus [RCV002477044]|not provided [RCV000157909] |
Chr11:532698 [GRCh38] Chr11:532698 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.*6-2A>C |
single nucleotide variant |
not specified [RCV000157910] |
Chr11:532524 [GRCh38] Chr11:532524 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.179G>A (p.Gly60Asp) |
single nucleotide variant |
Costello syndrome [RCV001387769]|not provided [RCV000157917] |
Chr11:533877 [GRCh38] Chr11:533877 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) |
single nucleotide variant |
Costello syndrome [RCV000557317]|not specified [RCV002271424] |
Chr11:533853 [GRCh38] Chr11:533853 [GRCh37] Chr11:11p15.5 |
likely pathogenic|uncertain significance |
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321658]|Costello syndrome [RCV000816581]|not provided [RCV000157921] |
Chr11:533586 [GRCh38] Chr11:533586 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) |
single nucleotide variant |
Costello syndrome [RCV000471505]|not provided [RCV000157922]|not specified [RCV000606057] |
Chr11:533536 [GRCh38] Chr11:533536 [GRCh37] Chr11:11p15.5 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro) |
single nucleotide variant |
Costello syndrome [RCV000533738]|Hereditary cancer-predisposing syndrome [RCV002257459] |
Chr11:533535 [GRCh38] Chr11:533535 [GRCh37] Chr11:11p15.5 |
likely pathogenic|uncertain significance |
NM_005343.4(HRAS):c.544A>G (p.Met182Val) |
single nucleotide variant |
Costello syndrome [RCV001219043]|not provided [RCV000157924] |
Chr11:532662 [GRCh38] Chr11:532662 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.35_36delinsAT (p.Gly12Asp) |
indel |
not provided [RCV001678586] |
Chr11:534287..534288 [GRCh38] Chr11:534287..534288 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.362C>T (p.Ala121Val) |
single nucleotide variant |
Costello syndrome [RCV001850200]|not provided [RCV000157927] |
Chr11:533541 [GRCh38] Chr11:533541 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) |
single nucleotide variant |
Costello syndrome [RCV000463046]|HRAS-related condition [RCV003390855]|Hereditary cancer-predisposing syndrome [RCV002258816]|Large congenital melanocytic nevus [RCV002492617]|not provided [RCV000505776] |
Chr11:532700 [GRCh38] Chr11:532700 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.35_36delinsCT (p.Gly12Ala) |
indel |
not provided [RCV000157929] |
Chr11:534287..534288 [GRCh38] Chr11:534287..534288 [GRCh37] Chr11:11p15.5 |
pathogenic |
GRCh37/hg19 11p15.5(chr11:532230-699463)x3 |
copy number gain |
See cases [RCV000240134] |
Chr11:532230..699463 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 |
copy number gain |
See cases [RCV000446036] |
Chr11:193187..5291338 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_005343.4(HRAS):c.36C>T (p.Gly12=) |
single nucleotide variant |
Costello syndrome [RCV000207496]|HRAS-related condition [RCV003927887]|Noonan syndrome and Noonan-related syndrome [RCV001813428]|RASopathy [RCV000522904]|not provided [RCV000586057] |
Chr11:534287 [GRCh38] Chr11:534287 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005343.4(HRAS):c.266C>G (p.Ser89Cys) |
single nucleotide variant |
not provided [RCV000207497] |
Chr11:533790 [GRCh38] Chr11:533790 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.214A>C (p.Met72Leu) |
single nucleotide variant |
not provided [RCV000756250] |
Chr11:533842 [GRCh38] Chr11:533842 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) |
duplication |
Costello syndrome [RCV000546898] |
Chr11:533849..533850 [GRCh38] Chr11:533849..533850 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
NM_005343.4(HRAS):c.468C>T (p.Phe156=) |
single nucleotide variant |
Costello syndrome [RCV002517470]|not specified [RCV000223407] |
Chr11:532738 [GRCh38] Chr11:532738 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) |
single nucleotide variant |
Costello syndrome [RCV000229010] |
Chr11:532660 [GRCh38] Chr11:532660 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.174_192del (p.Gly60fs) |
deletion |
Costello syndrome [RCV000229731] |
Chr11:533864..533882 [GRCh38] Chr11:533864..533882 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.339G>A (p.Leu113=) |
single nucleotide variant |
Costello syndrome [RCV001490462] |
Chr11:533564 [GRCh38] Chr11:533564 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala) |
single nucleotide variant |
Costello syndrome [RCV000232309] |
Chr11:534319 [GRCh38] Chr11:534319 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.290+6C>A |
single nucleotide variant |
Costello syndrome [RCV000232587] |
Chr11:533760 [GRCh38] Chr11:533760 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.309G>A (p.Val103=) |
single nucleotide variant |
Costello syndrome [RCV000227548]|HRAS-related condition [RCV003894842]|Noonan syndrome and Noonan-related syndrome [RCV001813235]|RASopathy [RCV000519223]|not provided [RCV001711138] |
Chr11:533594 [GRCh38] Chr11:533594 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.498C>A (p.His166Gln) |
single nucleotide variant |
Costello syndrome [RCV000228331] |
Chr11:532708 [GRCh38] Chr11:532708 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.111+6C>T |
single nucleotide variant |
Costello syndrome [RCV000227164]|Inborn genetic diseases [RCV002518341] |
Chr11:534206 [GRCh38] Chr11:534206 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.100C>T (p.Pro34Ser) |
single nucleotide variant |
Vascular Tumors Including Pyogenic Granuloma [RCV000662272] |
Chr11:534223 [GRCh38] Chr11:534223 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.35_36delinsTA (p.Gly12Val) |
indel |
not provided [RCV000322736] |
Chr11:534287..534288 [GRCh38] Chr11:534287..534288 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.291-6T>G |
single nucleotide variant |
Costello syndrome [RCV000872282]|HRAS-related condition [RCV003962443]|Hereditary cancer-predisposing syndrome [RCV002257777]|Large congenital melanocytic nevus [RCV002497006]|RASopathy [RCV000521008]|not specified [RCV001255585] |
Chr11:533618 [GRCh38] Chr11:533618 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala) |
single nucleotide variant |
Costello syndrome [RCV000525978] |
Chr11:532754 [GRCh38] Chr11:532754 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.57G>C (p.Leu19=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356348]|Costello syndrome [RCV000874891]|not specified [RCV000244358] |
Chr11:534266 [GRCh38] Chr11:534266 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.171T>C (p.Asp57=) |
single nucleotide variant |
Costello syndrome [RCV000871401]|Hereditary cancer-predisposing syndrome [RCV002258867]|not specified [RCV000246927] |
Chr11:533885 [GRCh38] Chr11:533885 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.369C>T (p.Arg123=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347960]|Costello syndrome [RCV001079542]|Hereditary cancer-predisposing syndrome [RCV002257620]|Noonan syndrome and Noonan-related syndrome [RCV001813437]|RASopathy [RCV000520797]|not provided [RCV000588992]|not specified [RCV000242213] |
Chr11:533534 [GRCh38] Chr11:533534 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.42G>A (p.Val14=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328743]|Costello syndrome [RCV000462480]|not provided [RCV001597013]|not specified [RCV000247431] |
Chr11:534281 [GRCh38] Chr11:534281 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.64C>T (p.Gln22Ter) |
single nucleotide variant |
not provided [RCV000269895] |
Chr11:534259 [GRCh38] Chr11:534259 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.24G>C (p.Val8=) |
single nucleotide variant |
Costello syndrome [RCV002072165]|not provided [RCV001565820] |
Chr11:534299 [GRCh38] Chr11:534299 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.112-13T>A |
single nucleotide variant |
Costello syndrome [RCV002069390]|not provided [RCV001683760]|not specified [RCV001269170] |
Chr11:533957 [GRCh38] Chr11:533957 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.176C>G (p.Ala59Gly) |
single nucleotide variant |
RASopathy [RCV003238902] |
Chr11:533880 [GRCh38] Chr11:533880 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro) |
single nucleotide variant |
Costello syndrome [RCV000637305] |
Chr11:533520 [GRCh38] Chr11:533520 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.153C>T (p.Cys51=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404781]|Costello syndrome [RCV000637311] |
Chr11:533903 [GRCh38] Chr11:533903 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) |
single nucleotide variant |
Costello syndrome [RCV001322927]|Large congenital melanocytic nevus [RCV002483665]|not specified [RCV000598510] |
Chr11:534312 [GRCh38] Chr11:534312 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358789]|Costello syndrome [RCV000637303] |
Chr11:533506 [GRCh38] Chr11:533506 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.10T>C (p.Tyr4His) |
single nucleotide variant |
not provided [RCV000590817] |
Chr11:534313 [GRCh38] Chr11:534313 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.27_29dup (p.Gly10dup) |
duplication |
not provided [RCV000586325] |
Chr11:534293..534294 [GRCh38] Chr11:534293..534294 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.111+14C>T |
single nucleotide variant |
Costello syndrome [RCV002064333]|not specified [RCV000600392] |
Chr11:534198 [GRCh38] Chr11:534198 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.304C>T (p.Arg102Trp) |
single nucleotide variant |
Costello syndrome [RCV001369972]|not specified [RCV000414564] |
Chr11:533599 [GRCh38] Chr11:533599 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.474G>A (p.Thr158=) |
single nucleotide variant |
Costello syndrome [RCV001463916] |
Chr11:532732 [GRCh38] Chr11:532732 [GRCh37] Chr11:11p15.5 |
likely benign |
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 |
copy number gain |
See cases [RCV000449417] |
Chr11:230615..6644927 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
GRCh37/hg19 11p15.5(chr11:494540-616565)x3 |
copy number gain |
See cases [RCV000447296] |
Chr11:494540..616565 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) |
single nucleotide variant |
Acute myeloid leukemia [RCV000435578]|B-cell chronic lymphocytic leukemia [RCV000420757]|Gastric adenocarcinoma [RCV000431015]|Hepatocellular carcinoma [RCV000427302]|Lung adenocarcinoma [RCV000444619]|Malignant melanoma of skin [RCV000422470]|Malignant neoplasm of body of uterus [RCV000442518]|Multiple myeloma [RCV000444550]|Neoplasm of the large intestine [RCV000437532]|Pancreatic adenocarcinoma [RCV000423098]|Squamous cell lung carcinoma [RCV000432499]|Thyroid tumor [RCV000424391]|Transitional cell carcinoma of the bladder [RCV000432733] |
Chr11:533875 [GRCh38] Chr11:533875 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.426C>T (p.Ile142=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328927]|Costello syndrome [RCV002524810]|not provided [RCV000434218] |
Chr11:533477 [GRCh38] Chr11:533477 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.54G>A (p.Ala18=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348170]|Costello syndrome [RCV001084746]|not provided [RCV000437756]|not specified [RCV001175031] |
Chr11:534269 [GRCh38] Chr11:534269 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.179G>T (p.Gly60Val) |
single nucleotide variant |
Large congenital melanocytic nevus [RCV002060067]|not provided [RCV000443979] |
Chr11:533877 [GRCh38] Chr11:533877 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.183G>T (p.Gln61His) |
single nucleotide variant |
Breast neoplasm [RCV000423449]|Lung adenocarcinoma [RCV000440259]|Malignant melanoma of skin [RCV000424686]|Neoplasm [RCV000420806]|Noonan syndrome 3 [RCV000589258]|Prostate adenocarcinoma [RCV000433734]|Squamous cell carcinoma of the head and neck [RCV000433099]|Squamous cell carcinoma of the skin [RCV000444731]|Squamous cell lung carcinoma [RCV000442468]|Thyroid tumor [RCV000434965]|Transitional cell carcinoma of the bladder [RCV000421964] |
Chr11:533873 [GRCh38] Chr11:533873 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn) |
single nucleotide variant |
Costello syndrome [RCV000637302]|not provided [RCV000434487] |
Chr11:532746 [GRCh38] Chr11:532746 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.162C>T (p.Asp54=) |
single nucleotide variant |
Costello syndrome [RCV003514353]|HRAS-related condition [RCV003897851]|not specified [RCV000438047] |
Chr11:533894 [GRCh38] Chr11:533894 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+174G>A |
single nucleotide variant |
HRAS-related condition [RCV003902493]|not provided [RCV000445288] |
Chr11:533279 [GRCh38] Chr11:533279 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.*5+20C>T |
single nucleotide variant |
not specified [RCV000441723] |
Chr11:532611 [GRCh38] Chr11:532611 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.182_183delinsGA (p.Gln61Arg) |
indel |
Neoplasm [RCV000418005] |
Chr11:533873..533874 [GRCh38] Chr11:533873..533874 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.182_183delinsGT (p.Gln61Arg) |
indel |
Neoplasm [RCV000435225] |
Chr11:533873..533874 [GRCh38] Chr11:533873..533874 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.183G>C (p.Gln61His) |
single nucleotide variant |
Neoplasm [RCV000428014] |
Chr11:533873 [GRCh38] Chr11:533873 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.150G>A (p.Thr50=) |
single nucleotide variant |
Costello syndrome [RCV002061575]|not provided [RCV000428021] |
Chr11:533906 [GRCh38] Chr11:533906 [GRCh37] Chr11:11p15.5 |
likely benign |
GRCh37/hg19 11p15.5(chr11:532230-699404)x3 |
copy number gain |
See cases [RCV000445988] |
Chr11:532230..699404 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.234C>T (p.Phe78=) |
single nucleotide variant |
Costello syndrome [RCV002059794]|not provided [RCV000424616] |
Chr11:533822 [GRCh38] Chr11:533822 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+18C>T |
single nucleotide variant |
Costello syndrome [RCV002059560]|not provided [RCV000442192] |
Chr11:533435 [GRCh38] Chr11:533435 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.38G>C (p.Gly13Ala) |
single nucleotide variant |
Acute myeloid leukemia [RCV000424186]|B-cell chronic lymphocytic leukemia [RCV000426316]|Gastric adenocarcinoma [RCV000421384]|Hepatocellular carcinoma [RCV000445345]|Lung adenocarcinoma [RCV000434457]|Malignant neoplasm of body of uterus [RCV000434248]|Multiple myeloma [RCV000442365]|Neoplasm of the large intestine [RCV000440965]|Neoplasm of uterine cervix [RCV000433957]|Pancreatic adenocarcinoma [RCV000425652] |
Chr11:534285 [GRCh38] Chr11:534285 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) |
single nucleotide variant |
Costello syndrome [RCV002230756]|Neoplasm of the large intestine [RCV000431895]|Thyroid tumor [RCV000421560] |
Chr11:534289 [GRCh38] Chr11:534289 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic |
NM_005343.4(HRAS):c.-53-17A>G |
single nucleotide variant |
not provided [RCV000429334] |
Chr11:534392 [GRCh38] Chr11:534392 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) |
single nucleotide variant |
Acute myeloid leukemia [RCV000428741]|B-cell chronic lymphocytic leukemia [RCV000424105]|Gastric adenocarcinoma [RCV000435489]|Hepatocellular carcinoma [RCV000440764]|Lung adenocarcinoma [RCV000441832]|Malignant melanoma of skin [RCV000430658]|Malignant neoplasm of body of uterus [RCV000430030]|Multiple myeloma [RCV000420448]|Neoplasm [RCV000428681]|Neoplasm of the large intestine [RCV000425877]|Pancreatic adenocarcinoma [RCV000419094]|Squamous cell lung carcinoma [RCV000435915]|Thyroid tumor [RCV000435275]|Transitional cell carcinoma of the bladder [RCV000417619] |
Chr11:533874 [GRCh38] Chr11:533874 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) |
single nucleotide variant |
Breast neoplasm [RCV000424171]|Costello syndrome [RCV002524694]|Lung adenocarcinoma [RCV000430707]|Malignant melanoma of skin [RCV000417857]|Neoplasm [RCV000422141]|Squamous cell carcinoma of the head and neck [RCV000435549]|Squamous cell carcinoma of the skin [RCV000430043]|Squamous cell lung carcinoma [RCV000440979]|Transitional cell carcinoma of the bladder [RCV000427918]|Vascular Tumors Including Pyogenic Granuloma [RCV000662270] |
Chr11:534286 [GRCh38] Chr11:534286 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) |
single nucleotide variant |
Acute myeloid leukemia [RCV000417704]|Gastric adenocarcinoma [RCV000439704]|Lung adenocarcinoma [RCV000439018]|Multiple myeloma [RCV000429488]|Neoplasm of the large intestine [RCV000427905]|Neoplasm of uterine cervix [RCV000418346] |
Chr11:533467 [GRCh38] Chr11:533467 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.291-8C>T |
single nucleotide variant |
Costello syndrome [RCV001084880]|not provided [RCV000433431] |
Chr11:533620 [GRCh38] Chr11:533620 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_176795.5(HRAS):c.480C>T (p.Ser160=) |
single nucleotide variant |
not provided [RCV000423204] |
Chr11:533329 [GRCh38] Chr11:533329 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.228G>A (p.Glu76=) |
single nucleotide variant |
Costello syndrome [RCV002063360]|not provided [RCV000423251] |
Chr11:533828 [GRCh38] Chr11:533828 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) |
single nucleotide variant |
Acute myeloid leukemia [RCV000428206]|B-cell chronic lymphocytic leukemia [RCV000433098]|Breast neoplasm [RCV000439626]|Costello syndrome [RCV001372584]|Gastric adenocarcinoma [RCV000428443]|Hepatocellular carcinoma [RCV000420395]|KA-like vemurafenib-induced squamous lesions [RCV001849368]|Lip and oral cavity carcinoma [RCV001255684]|Lung adenocarcinoma [RCV000436845]|Malignant melanoma of skin [RCV000425694]|Malignant neoplasm of body of uterus [RCV000421974]|Multiple myeloma [RCV000438263]|Neoplasm of the large intestine [RCV000421690]|Pancreatic adenocarcinoma [RCV000426826]|Prostate adenocarcinoma [RCV000438465]|Squamous cell carcinoma of the head and neck [RCV000420623]|Squamous cell carcinoma of the skin [RCV000445204]|Squamous cell lung carcinoma [RCV000437079]|Thyroid tumor [RCV000445166]|Transitional cell carcinoma of the bladder [RCV000430634] |
Chr11:533874 [GRCh38] Chr11:533874 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic|uncertain significance |
NC_000011.9:g.(?_532631)_(532755_?)dup |
duplication |
Costello syndrome [RCV000474493] |
Chr11:532631..532755 [GRCh38] Chr11:532631..532755 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.219C>T (p.Arg73=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431368]|Costello syndrome [RCV000471546]|HRAS-related condition [RCV003899987]|not provided [RCV003392297] |
Chr11:533837 [GRCh38] Chr11:533837 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.120C>T (p.Tyr40=) |
single nucleotide variant |
Costello syndrome [RCV000456682]|not provided [RCV001310581] |
Chr11:533936 [GRCh38] Chr11:533936 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.398T>A (p.Leu133His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374788]|Costello syndrome [RCV000456787]|Linear nevus sebaceous syndrome [RCV001535653]|not provided [RCV000681068]|not specified [RCV003151066] |
Chr11:533505 [GRCh38] Chr11:533505 [GRCh37] Chr11:11p15.5 |
uncertain significance|not provided |
NM_005343.4(HRAS):c.156G>A (p.Leu52=) |
single nucleotide variant |
Costello syndrome [RCV000460380]|not provided [RCV001613309] |
Chr11:533900 [GRCh38] Chr11:533900 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.537C>T (p.Pro179=) |
single nucleotide variant |
Costello syndrome [RCV000471783]|not provided [RCV001576338] |
Chr11:532669 [GRCh38] Chr11:532669 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) |
single nucleotide variant |
Costello syndrome [RCV000475366]|not provided [RCV002464203] |
Chr11:533512 [GRCh38] Chr11:533512 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.106A>G (p.Ile36Val) |
single nucleotide variant |
Costello syndrome [RCV000475424] |
Chr11:534217 [GRCh38] Chr11:534217 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.-95CGGCCC[1] |
microsatellite |
not specified [RCV000485121] |
Chr11:535446..535451 [GRCh38] Chr11:535446..535451 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.534C>G (p.Gly178=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350036]|Costello syndrome [RCV000464492]|HRAS-related condition [RCV003970343]|not provided [RCV001575546]|not specified [RCV001420905] |
Chr11:532672 [GRCh38] Chr11:532672 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.16C>T (p.Leu6=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411554]|Costello syndrome [RCV001473659] |
Chr11:534307 [GRCh38] Chr11:534307 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.516C>T (p.Asn172=) |
single nucleotide variant |
Costello syndrome [RCV000460869]|not specified [RCV000610082] |
Chr11:532690 [GRCh38] Chr11:532690 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-5C>G |
single nucleotide variant |
Costello syndrome [RCV001078758]|not provided [RCV000681281] |
Chr11:532760 [GRCh38] Chr11:532760 [GRCh37] Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005343.4(HRAS):c.519T>G (p.Pro173=) |
single nucleotide variant |
Costello syndrome [RCV000465686] |
Chr11:532687 [GRCh38] Chr11:532687 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.448C>T (p.Gln150Ter) |
single nucleotide variant |
not provided [RCV000478173] |
Chr11:533455 [GRCh38] Chr11:533455 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.312G>A (p.Lys104=) |
single nucleotide variant |
Costello syndrome [RCV000462463]|not provided [RCV001613310] |
Chr11:533591 [GRCh38] Chr11:533591 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu) |
single nucleotide variant |
Costello syndrome [RCV000469881] |
Chr11:533586 [GRCh38] Chr11:533586 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 |
copy number gain |
See cases [RCV000511561] |
Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12 |
pathogenic |
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) |
single nucleotide variant |
Costello syndrome [RCV000705122]|not provided [RCV000494039] |
Chr11:533601 [GRCh38] Chr11:533601 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_005343.4(HRAS):c.432C>T (p.Thr144=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003301684] |
Chr11:533471 [GRCh38] Chr11:533471 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.222C>T (p.Thr74=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431742]|Costello syndrome [RCV001082400]|not provided [RCV000586814] |
Chr11:533834 [GRCh38] Chr11:533834 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) |
copy number gain |
Silver-Russell syndrome 1 [RCV000767567] |
Chr11:193146..12643136 [GRCh37] Chr11:11p15.5-15.3 |
pathogenic |
NM_005343.4(HRAS):c.552dup (p.Lys185fs) |
duplication |
Costello syndrome [RCV000637304] |
Chr11:532653..532654 [GRCh38] Chr11:532653..532654 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.141T>C (p.Asp47=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388047]|Costello syndrome [RCV000637306]|not specified [RCV001194129] |
Chr11:533915 [GRCh38] Chr11:533915 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.102C>T (p.Pro34=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002386026]|Costello syndrome [RCV000637314]|Noonan syndrome and Noonan-related syndrome [RCV001813533] |
Chr11:534221 [GRCh38] Chr11:534221 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) |
single nucleotide variant |
Costello syndrome [RCV000700035]|not provided [RCV000681102]|not specified [RCV000595459] |
Chr11:533458 [GRCh38] Chr11:533458 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.411C>T (p.Tyr137=) |
single nucleotide variant |
Costello syndrome [RCV000637307] |
Chr11:533492 [GRCh38] Chr11:533492 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_176795.5(HRAS):c.500dup (p.Pro169fs) |
duplication |
Congenital fibrosis of extraocular muscles [RCV003883157]|Costello syndrome [RCV000625815] |
Chr11:533308..533309 [GRCh38] Chr11:533308..533309 [GRCh37] Chr11:11p15.5 |
pathogenic|uncertain significance |
NM_005343.4(HRAS):c.435G>A (p.Ser145=) |
single nucleotide variant |
Costello syndrome [RCV000537215] |
Chr11:533468 [GRCh38] Chr11:533468 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.156G>T (p.Leu52=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003380607]|Costello syndrome [RCV001497959] |
Chr11:533900 [GRCh38] Chr11:533900 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.482G>A (p.Arg161His) |
single nucleotide variant |
Costello syndrome [RCV001202259]|not specified [RCV000616994] |
Chr11:532724 [GRCh38] Chr11:532724 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.-54+7G>A |
single nucleotide variant |
not specified [RCV000609219] |
Chr11:535409 [GRCh38] Chr11:535409 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291-17C>G |
single nucleotide variant |
Costello syndrome [RCV003767572]|not specified [RCV000611909] |
Chr11:533629 [GRCh38] Chr11:533629 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp) |
single nucleotide variant |
Costello syndrome [RCV000558860] |
Chr11:533490 [GRCh38] Chr11:533490 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.96C>T (p.Tyr32=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002386025]|Costello syndrome [RCV000637312]|not provided [RCV001564192]|not specified [RCV000781470] |
Chr11:534227 [GRCh38] Chr11:534227 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.451-5C>T |
single nucleotide variant |
Costello syndrome [RCV000637310]|Inborn genetic diseases [RCV002528612]|not provided [RCV001698422] |
Chr11:532760 [GRCh38] Chr11:532760 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 |
copy number gain |
See cases [RCV000512225] |
Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3 |
pathogenic |
NM_005343.4(HRAS):c.84T>C (p.Phe28=) |
single nucleotide variant |
Costello syndrome [RCV001463449]|not specified [RCV000600165] |
Chr11:534239 [GRCh38] Chr11:534239 [GRCh37] Chr11:11p15.5 |
likely benign |
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 |
copy number gain |
See cases [RCV000512477] |
Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
NM_005343.4(HRAS):c.297G>T (p.Gln99His) |
single nucleotide variant |
Costello syndrome [RCV001231060] |
Chr11:533606 [GRCh38] Chr11:533606 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.451-341G>A |
single nucleotide variant |
not provided [RCV000680741] |
Chr11:533096 [GRCh38] Chr11:533096 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.-19C>T |
single nucleotide variant |
not provided [RCV000681168] |
Chr11:534341 [GRCh38] Chr11:534341 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.137T>C (p.Ile46Thr) |
single nucleotide variant |
Costello syndrome [RCV001861890]|not provided [RCV000681108] |
Chr11:533919 [GRCh38] Chr11:533919 [GRCh37] Chr11:11p15.5 |
likely pathogenic|uncertain significance |
NM_005343.4(HRAS):c.*5+14C>G |
single nucleotide variant |
not provided [RCV000680622] |
Chr11:532617 [GRCh38] Chr11:532617 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-282C>T |
single nucleotide variant |
not provided [RCV000681305] |
Chr11:533037 [GRCh38] Chr11:533037 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.-53-40_-53-29del |
deletion |
not provided [RCV000680644] |
Chr11:534404..534415 [GRCh38] Chr11:534404..534415 [GRCh37] Chr11:11p15.5 |
benign |
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 |
copy number gain |
not provided [RCV000683369] |
Chr11:230615..9704511 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 |
copy number gain |
not provided [RCV000683372] |
Chr11:230615..17099213 [GRCh37] Chr11:11p15.5-15.1 |
pathogenic |
NM_005343.4(HRAS):c.451-168T>G |
single nucleotide variant |
not provided [RCV000680678] |
Chr11:532923 [GRCh38] Chr11:532923 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.451-48C>T |
single nucleotide variant |
not provided [RCV000680739] |
Chr11:532803 [GRCh38] Chr11:532803 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.-53-40_-53-35del |
deletion |
not provided [RCV000680646] |
Chr11:534410..534415 [GRCh38] Chr11:534410..534415 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.461A>T (p.Asp154Val) |
single nucleotide variant |
Costello syndrome [RCV000701626]|HRAS-related condition [RCV003892562] |
Chr11:532745 [GRCh38] Chr11:532745 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) |
single nucleotide variant |
Costello syndrome [RCV000704391] |
Chr11:532719 [GRCh38] Chr11:532719 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) |
single nucleotide variant |
Costello syndrome [RCV000704627] |
Chr11:533818 [GRCh38] Chr11:533818 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) |
single nucleotide variant |
Costello syndrome [RCV000707594] |
Chr11:533515 [GRCh38] Chr11:533515 [GRCh37] Chr11:11p15.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp) |
single nucleotide variant |
Costello syndrome [RCV000703060]|Hereditary cancer-predisposing syndrome [RCV002259010] |
Chr11:532716 [GRCh38] Chr11:532716 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.332T>C (p.Met111Thr) |
single nucleotide variant |
Costello syndrome [RCV000689351] |
Chr11:533571 [GRCh38] Chr11:533571 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn) |
single nucleotide variant |
Costello syndrome [RCV000687312]|not provided [RCV000788501] |
Chr11:533509 [GRCh38] Chr11:533509 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) |
single nucleotide variant |
Costello syndrome [RCV000696822] |
Chr11:533479 [GRCh38] Chr11:533479 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5(chr11:285188-561859)x3 |
copy number gain |
not provided [RCV000737353] |
Chr11:285188..561859 [GRCh37] Chr11:11p15.5 |
benign |
GRCh37/hg19 11p15.5(chr11:353757-561787)x3 |
copy number gain |
not provided [RCV000737356] |
Chr11:353757..561787 [GRCh37] Chr11:11p15.5 |
benign |
GRCh37/hg19 11p15.5(chr11:381754-821676)x3 |
copy number gain |
not provided [RCV000749876] |
Chr11:381754..821676 [GRCh37] Chr11:11p15.5 |
benign |
GRCh37/hg19 11p15.5(chr11:529101-577534)x1 |
copy number loss |
not provided [RCV000749883] |
Chr11:529101..577534 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.90C>T (p.Asp30=) |
single nucleotide variant |
Costello syndrome [RCV000874791] |
Chr11:534233 [GRCh38] Chr11:534233 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291-30C>T |
single nucleotide variant |
not provided [RCV001535365] |
Chr11:533642 [GRCh38] Chr11:533642 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.-53-5G>A |
single nucleotide variant |
not provided [RCV003315067] |
Chr11:534380 [GRCh38] Chr11:534380 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.10:g.(?_532636)_(534322_?)del |
deletion |
Costello syndrome [RCV001032228] |
Chr11:532636..534322 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.*5+35C>T |
single nucleotide variant |
not provided [RCV001680781] |
Chr11:532596 [GRCh38] Chr11:532596 [GRCh37] Chr11:11p15.5 |
benign |
NC_000011.10:g.(?_532636)_(534322_?)dup |
duplication |
Costello syndrome [RCV001031173] |
Chr11:532636..534322 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.-54+3G>A |
single nucleotide variant |
Costello syndrome [RCV003448632] |
Chr11:535413 [GRCh38] Chr11:535413 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.291-4_291-3del |
microsatellite |
Costello syndrome [RCV001401902] |
Chr11:533615..533616 [GRCh38] Chr11:533615..533616 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.111+7C>T |
single nucleotide variant |
Costello syndrome [RCV001463156] |
Chr11:534205 [GRCh38] Chr11:534205 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-8T>C |
single nucleotide variant |
Costello syndrome [RCV000877025] |
Chr11:532763 [GRCh38] Chr11:532763 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320236]|Costello syndrome [RCV001036900]|Large congenital melanocytic nevus [RCV002505558] |
Chr11:533493 [GRCh38] Chr11:533493 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.280C>T (p.His94Tyr) |
single nucleotide variant |
Costello syndrome [RCV001069666] |
Chr11:533776 [GRCh38] Chr11:533776 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.282C>G (p.His94Gln) |
single nucleotide variant |
Costello syndrome [RCV001056731] |
Chr11:533774 [GRCh38] Chr11:533774 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro) |
single nucleotide variant |
Costello syndrome [RCV001054590]|Large congenital melanocytic nevus [RCV002481991] |
Chr11:532715 [GRCh38] Chr11:532715 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.451-4C>T |
single nucleotide variant |
Costello syndrome [RCV000874555]|Noonan syndrome [RCV000824933] |
Chr11:532759 [GRCh38] Chr11:532759 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp) |
single nucleotide variant |
Costello syndrome [RCV000791901] |
Chr11:533521 [GRCh38] Chr11:533521 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.291-9A>G |
single nucleotide variant |
Costello syndrome [RCV000864531]|not specified [RCV000781471] |
Chr11:533621 [GRCh38] Chr11:533621 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.60C>T (p.Thr20=) |
single nucleotide variant |
Costello syndrome [RCV000873928] |
Chr11:534263 [GRCh38] Chr11:534263 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.69G>A (p.Leu23=) |
single nucleotide variant |
Costello syndrome [RCV000871145]|not specified [RCV001420954] |
Chr11:534254 [GRCh38] Chr11:534254 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.174C>T (p.Thr58=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409032]|Costello syndrome [RCV000864872] |
Chr11:533882 [GRCh38] Chr11:533882 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.535C>G (p.Pro179Ala) |
single nucleotide variant |
Costello syndrome [RCV000898724] |
Chr11:532671 [GRCh38] Chr11:532671 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.112-4G>A |
single nucleotide variant |
Costello syndrome [RCV001416693]|not specified [RCV001797803] |
Chr11:533948 [GRCh38] Chr11:533948 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.451-10C>T |
single nucleotide variant |
Costello syndrome [RCV000895227] |
Chr11:532765 [GRCh38] Chr11:532765 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.237G>A (p.Leu79=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454037]|Costello syndrome [RCV000875822] |
Chr11:533819 [GRCh38] Chr11:533819 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal) |
indel |
Arteriovenous malformation [RCV000860022] |
Chr11:533879..533884 [GRCh38] Chr11:533879..533884 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.41T>G (p.Val14Gly) |
single nucleotide variant |
Costello syndrome [RCV000810329] |
Chr11:534282 [GRCh38] Chr11:534282 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser) |
single nucleotide variant |
Costello syndrome [RCV000810206]|not provided [RCV002269317] |
Chr11:532668 [GRCh38] Chr11:532668 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.188_230dup (p.Phe78fs) |
duplication |
Costello syndrome [RCV000824932] |
Chr11:533825..533826 [GRCh38] Chr11:533825..533826 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.54G>C (p.Ala18=) |
single nucleotide variant |
Costello syndrome [RCV001502715] |
Chr11:534269 [GRCh38] Chr11:534269 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-3C>T |
single nucleotide variant |
Costello syndrome [RCV000803345] |
Chr11:532758 [GRCh38] Chr11:532758 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_532626)_(534332_?)dup |
duplication |
Costello syndrome [RCV000813327] |
Chr11:532626..534332 [GRCh38] Chr11:532626..534332 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.112-7C>T |
single nucleotide variant |
Costello syndrome [RCV002066363] |
Chr11:533951 [GRCh38] Chr11:533951 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg) |
single nucleotide variant |
Costello syndrome [RCV000817769] |
Chr11:532674 [GRCh38] Chr11:532674 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.290+9C>G |
single nucleotide variant |
Costello syndrome [RCV000802561] |
Chr11:533757 [GRCh38] Chr11:533757 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_176795.5(HRAS):c.488_507del (p.Leu163fs) |
deletion |
Costello syndrome [RCV003514457]|HRAS-related condition [RCV003928669]|RASopathy [RCV001030086]|not provided [RCV001619882] |
Chr11:533302..533321 [GRCh38] Chr11:533302..533321 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser) |
single nucleotide variant |
Costello syndrome [RCV000818197] |
Chr11:533878 [GRCh38] Chr11:533878 [GRCh37] Chr11:11p15.5 |
likely pathogenic|uncertain significance |
NM_005343.4(HRAS):c.5C>T (p.Thr2Met) |
single nucleotide variant |
Costello syndrome [RCV000816525] |
Chr11:534318 [GRCh38] Chr11:534318 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala) |
single nucleotide variant |
Costello syndrome [RCV000797018]|Noonan syndrome [RCV001261054] |
Chr11:532686 [GRCh38] Chr11:532686 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.144G>A (p.Gly48=) |
single nucleotide variant |
Costello syndrome [RCV001483338] |
Chr11:533912 [GRCh38] Chr11:533912 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys) |
single nucleotide variant |
Costello syndrome [RCV000797879]|Large congenital melanocytic nevus [RCV002501060]|not provided [RCV001592979] |
Chr11:532725 [GRCh38] Chr11:532725 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala) |
single nucleotide variant |
Costello syndrome [RCV000823640] |
Chr11:533781 [GRCh38] Chr11:533781 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_532616)_(2906985_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001032557] |
Chr11:532616..2906985 [GRCh37] Chr11:11p15.5-15.4 |
uncertain significance |
NM_005343.4(HRAS):c.133G>A (p.Val45Ile) |
single nucleotide variant |
Costello syndrome [RCV001044559] |
Chr11:533923 [GRCh38] Chr11:533923 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.290+1G>C |
single nucleotide variant |
not specified [RCV001194130] |
Chr11:533765 [GRCh38] Chr11:533765 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.165_166insTCCGGAAGCAGGTGGTCATTGATGGGGAGACGTGCCTGTTGGACATC (p.Leu56fs) |
insertion |
not specified [RCV001194132] |
Chr11:533890..533891 [GRCh38] Chr11:533890..533891 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.450+17C>T |
single nucleotide variant |
Costello syndrome [RCV002559679]|not specified [RCV001174936] |
Chr11:533436 [GRCh38] Chr11:533436 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.426C>G (p.Ile142Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002327468]|Costello syndrome [RCV001204909] |
Chr11:533477 [GRCh38] Chr11:533477 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.97G>A (p.Asp33Asn) |
single nucleotide variant |
Costello syndrome [RCV001219408] |
Chr11:534226 [GRCh38] Chr11:534226 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.407G>A (p.Ser136Asn) |
single nucleotide variant |
Costello syndrome [RCV001208775] |
Chr11:533496 [GRCh38] Chr11:533496 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.464C>T (p.Ala155Val) |
single nucleotide variant |
Costello syndrome [RCV001238905] |
Chr11:532742 [GRCh38] Chr11:532742 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.412_431del (p.Gly138fs) |
deletion |
Costello syndrome [RCV001223776] |
Chr11:533472..533491 [GRCh38] Chr11:533472..533491 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.295C>G (p.Gln99Glu) |
single nucleotide variant |
Costello syndrome [RCV001240627] |
Chr11:533608 [GRCh38] Chr11:533608 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.427G>C (p.Glu143Gln) |
single nucleotide variant |
Costello syndrome [RCV001226647] |
Chr11:533476 [GRCh38] Chr11:533476 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.383G>A (p.Arg128Gln) |
single nucleotide variant |
Costello syndrome [RCV001234711] |
Chr11:533520 [GRCh38] Chr11:533520 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.274G>A (p.Asp92Asn) |
single nucleotide variant |
Costello syndrome [RCV001209828] |
Chr11:533782 [GRCh38] Chr11:533782 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.566C>T (p.Ser189Phe) |
single nucleotide variant |
Costello syndrome [RCV001210405] |
Chr11:532640 [GRCh38] Chr11:532640 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.263A>G (p.Lys88Arg) |
single nucleotide variant |
Costello syndrome [RCV001204299] |
Chr11:533793 [GRCh38] Chr11:533793 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 |
copy number gain |
not provided [RCV001006372] |
Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
NM_005343.4(HRAS):c.111+50C>G |
single nucleotide variant |
not provided [RCV001715656] |
Chr11:534162 [GRCh38] Chr11:534162 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.451-224G>A |
single nucleotide variant |
not provided [RCV001638374] |
Chr11:532979 [GRCh38] Chr11:532979 [GRCh37] Chr11:11p15.5 |
benign |
NM_176795.5(HRAS):c.498C>G (p.Pro166=) |
single nucleotide variant |
not provided [RCV001677220] |
Chr11:533311 [GRCh38] Chr11:533311 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.111+75C>G |
single nucleotide variant |
not provided [RCV001650464] |
Chr11:534137 [GRCh38] Chr11:534137 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.102C>G (p.Pro34=) |
single nucleotide variant |
Costello syndrome [RCV001493838]|not provided [RCV000868366] |
Chr11:534221 [GRCh38] Chr11:534221 [GRCh37] Chr11:11p15.5 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_005343.4(HRAS):c.270dup (p.Glu91Ter) |
duplication |
Costello syndrome [RCV001231755] |
Chr11:533785..533786 [GRCh38] Chr11:533785..533786 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.539G>A (p.Gly180Asp) |
single nucleotide variant |
Costello syndrome [RCV001219695] |
Chr11:532667 [GRCh38] Chr11:532667 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.463G>T (p.Ala155Ser) |
single nucleotide variant |
Costello syndrome [RCV001205671] |
Chr11:532743 [GRCh38] Chr11:532743 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.260C>A (p.Thr87Asn) |
single nucleotide variant |
Costello syndrome [RCV001224158] |
Chr11:533796 [GRCh38] Chr11:533796 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.450+20C>A |
single nucleotide variant |
Costello syndrome [RCV002069249]|not specified [RCV001194133] |
Chr11:533433 [GRCh38] Chr11:533433 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.111+10G>A |
single nucleotide variant |
Costello syndrome [RCV003514442] |
Chr11:534202 [GRCh38] Chr11:534202 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.492G>A (p.Arg164=) |
single nucleotide variant |
Costello syndrome [RCV000955635] |
Chr11:532714 [GRCh38] Chr11:532714 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.423C>T (p.Tyr141=) |
single nucleotide variant |
Costello syndrome [RCV001400667] |
Chr11:533480 [GRCh38] Chr11:533480 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.231C>T (p.Gly77=) |
single nucleotide variant |
Costello syndrome [RCV000911535] |
Chr11:533825 [GRCh38] Chr11:533825 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_176795.5(HRAS):c.501G>A (p.Pro167=) |
single nucleotide variant |
not provided [RCV001562363] |
Chr11:533308 [GRCh38] Chr11:533308 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.35_36delinsTT (p.Gly12Val) |
indel |
Costello syndrome [RCV001732216]|not provided [RCV001577794] |
Chr11:534287..534288 [GRCh38] Chr11:534287..534288 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.468C>G (p.Phe156Leu) |
single nucleotide variant |
not provided [RCV001563014] |
Chr11:532738 [GRCh38] Chr11:532738 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.*76G>C |
single nucleotide variant |
not provided [RCV001540698] |
Chr11:532452 [GRCh38] Chr11:532452 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+38C>T |
single nucleotide variant |
not provided [RCV001596788] |
Chr11:533415 [GRCh38] Chr11:533415 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.*5+24C>T |
single nucleotide variant |
not provided [RCV001657631] |
Chr11:532607 [GRCh38] Chr11:532607 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.*6-48G>A |
single nucleotide variant |
not provided [RCV001715658] |
Chr11:532570 [GRCh38] Chr11:532570 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.450+49G>A |
single nucleotide variant |
not provided [RCV001676730] |
Chr11:533404 [GRCh38] Chr11:533404 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.290+10G>A |
single nucleotide variant |
Costello syndrome [RCV002559226]|not specified [RCV001194131] |
Chr11:533756 [GRCh38] Chr11:533756 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NC_000011.10:g.535603G>A |
single nucleotide variant |
not provided [RCV001695147] |
Chr11:535603 [GRCh38] Chr11:535603 [GRCh37] Chr11:11p15.5 |
benign |
NC_000011.10:g.(?_534206)_(534328_?)dup |
duplication |
Costello syndrome [RCV001033925] |
Chr11:534206..534328 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.10:g.(?_532616)_(795026_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001031133] |
Chr11:532616..795026 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.17TGG[3] (p.Val9del) |
microsatellite |
Costello syndrome [RCV001067470] |
Chr11:534295..534297 [GRCh38] Chr11:534295..534297 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.-33G>A |
single nucleotide variant |
not provided [RCV001615644] |
Chr11:534355 [GRCh38] Chr11:534355 [GRCh37] Chr11:11p15.5 |
benign |
NC_000011.10:g.(?_532616)_(534342_?)dup |
duplication |
Costello syndrome [RCV001032510] |
Chr11:532616..534342 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.245T>G (p.Phe82Cys) |
single nucleotide variant |
Costello syndrome [RCV001206337] |
Chr11:533811 [GRCh38] Chr11:533811 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.544A>C (p.Met182Leu) |
single nucleotide variant |
Costello syndrome [RCV001217922] |
Chr11:532662 [GRCh38] Chr11:532662 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.565T>G (p.Ser189Ala) |
single nucleotide variant |
Costello syndrome [RCV001061654] |
Chr11:532641 [GRCh38] Chr11:532641 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.491G>A (p.Arg164Gln) |
single nucleotide variant |
Costello syndrome [RCV001219438]|HRAS-related condition [RCV003398958]|not provided [RCV001776147] |
Chr11:532715 [GRCh38] Chr11:532715 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys) |
single nucleotide variant |
Costello syndrome [RCV001039872]|Hereditary cancer-predisposing syndrome [RCV002258094] |
Chr11:533481 [GRCh38] Chr11:533481 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.503T>C (p.Leu168Pro) |
single nucleotide variant |
Costello syndrome [RCV001203653]|Noonan syndrome and Noonan-related syndrome [RCV001813581] |
Chr11:532703 [GRCh38] Chr11:532703 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.112-7_112-5del |
microsatellite |
Costello syndrome [RCV001037002] |
Chr11:533949..533951 [GRCh38] Chr11:533949..533951 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn) |
single nucleotide variant |
Costello syndrome [RCV001037216]|Noonan syndrome [RCV001261055] |
Chr11:532658 [GRCh38] Chr11:532658 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.419C>T (p.Pro140Leu) |
single nucleotide variant |
Costello syndrome [RCV001232757] |
Chr11:533484 [GRCh38] Chr11:533484 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.451-6T>G |
single nucleotide variant |
Costello syndrome [RCV001228584] |
Chr11:532761 [GRCh38] Chr11:532761 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.112-59_*6-51del |
deletion |
Costello syndrome [RCV001253224] |
Chr11:532573..534003 [GRCh38] Chr11:532573..534003 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.450+31A>G |
single nucleotide variant |
Squamous cell lung carcinoma [RCV001250980] |
Chr11:533422 [GRCh38] Chr11:533422 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.450+38dup |
duplication |
Squamous cell lung carcinoma [RCV001250978] |
Chr11:533414..533415 [GRCh38] Chr11:533414..533415 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.111+18G>C |
single nucleotide variant |
Squamous cell lung carcinoma [RCV001250981] |
Chr11:534194 [GRCh38] Chr11:534194 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.450+35A>C |
single nucleotide variant |
Squamous cell lung carcinoma [RCV001250979] |
Chr11:533418 [GRCh38] Chr11:533418 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.-5G>A |
single nucleotide variant |
not specified [RCV001251409] |
Chr11:534327 [GRCh38] Chr11:534327 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_176795.5(HRAS):c.463_468dup (p.Gly155_Ser156dup) |
duplication |
Noonan syndrome [RCV001261053] |
Chr11:533340..533341 [GRCh38] Chr11:533340..533341 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5(chr11:230615-1150353)x3 |
copy number gain |
not provided [RCV001259592] |
Chr11:230615..1150353 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 |
copy number gain |
Silver-Russell syndrome 1 [RCV001263222] |
Chr11:210300..8664358 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_005343.4(HRAS):c.374T>C (p.Val125Ala) |
single nucleotide variant |
Costello syndrome [RCV001880001]|Noonan syndrome [RCV001261052] |
Chr11:533529 [GRCh38] Chr11:533529 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_532631)_(534375_?)dup |
duplication |
Costello syndrome [RCV000461310] |
Chr11:532631..534375 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 |
copy number gain |
See cases [RCV001263059] |
Chr11:230615..4851537 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NC_000011.9:g.(?_298501)_(4113028_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] |
Chr11:298501..4113028 [GRCh37] Chr11:11p15.5-15.4 |
uncertain significance |
NM_005343.4(HRAS):c.506G>T (p.Arg169Leu) |
single nucleotide variant |
Costello syndrome [RCV001338600] |
Chr11:532700 [GRCh38] Chr11:532700 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.427G>A (p.Glu143Lys) |
single nucleotide variant |
Costello syndrome [RCV001320813] |
Chr11:533476 [GRCh38] Chr11:533476 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.203G>T (p.Arg68Leu) |
single nucleotide variant |
Costello syndrome [RCV001321198] |
Chr11:533853 [GRCh38] Chr11:533853 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.560T>C (p.Val187Ala) |
single nucleotide variant |
Costello syndrome [RCV001309436] |
Chr11:532646 [GRCh38] Chr11:532646 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_532630)_(532761_?)dup |
duplication |
Costello syndrome [RCV001351804] |
Chr11:532630..532761 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.426C>A (p.Ile142=) |
single nucleotide variant |
Costello syndrome [RCV001324473] |
Chr11:533477 [GRCh38] Chr11:533477 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.484G>A (p.Glu162Lys) |
single nucleotide variant |
Costello syndrome [RCV001337613]|not provided [RCV001550317] |
Chr11:532722 [GRCh38] Chr11:532722 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.202C>G (p.Arg68Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420839]|Costello syndrome [RCV001372298] |
Chr11:533854 [GRCh38] Chr11:533854 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg) |
single nucleotide variant |
Costello syndrome [RCV001329395] |
Chr11:533517 [GRCh38] Chr11:533517 [GRCh37] Chr11:11p15.5 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_005343.4(HRAS):c.291-3C>T |
single nucleotide variant |
Costello syndrome [RCV001305262]|Hereditary cancer-predisposing syndrome [RCV002258190] |
Chr11:533615 [GRCh38] Chr11:533615 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.329C>T (p.Pro110Leu) |
single nucleotide variant |
Costello syndrome [RCV001372946] |
Chr11:533574 [GRCh38] Chr11:533574 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.261C>T (p.Thr87=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456666]|Costello syndrome [RCV001415096] |
Chr11:533795 [GRCh38] Chr11:533795 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.101C>T (p.Pro34Leu) |
single nucleotide variant |
Costello syndrome [RCV001360851] |
Chr11:534222 [GRCh38] Chr11:534222 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.108dup (p.Glu37fs) |
duplication |
Costello syndrome [RCV001371797] |
Chr11:534214..534215 [GRCh38] Chr11:534214..534215 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.463G>A (p.Ala155Thr) |
single nucleotide variant |
Costello syndrome [RCV001373169] |
Chr11:532743 [GRCh38] Chr11:532743 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_534206)_(534328_?)dup |
duplication |
Costello syndrome [RCV001319822] |
Chr11:534206..534328 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.545T>C (p.Met182Thr) |
single nucleotide variant |
Costello syndrome [RCV001341872] |
Chr11:532661 [GRCh38] Chr11:532661 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.515A>G (p.Asn172Ser) |
single nucleotide variant |
Costello syndrome [RCV001364047] |
Chr11:532691 [GRCh38] Chr11:532691 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.424A>G (p.Ile142Val) |
single nucleotide variant |
Costello syndrome [RCV001351824] |
Chr11:533479 [GRCh38] Chr11:533479 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.497A>G (p.His166Arg) |
single nucleotide variant |
Costello syndrome [RCV001318591]|HRAS-related condition [RCV003399099] |
Chr11:532709 [GRCh38] Chr11:532709 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.307G>A (p.Val103Met) |
single nucleotide variant |
Costello syndrome [RCV001321698] |
Chr11:533596 [GRCh38] Chr11:533596 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.536C>T (p.Pro179Leu) |
single nucleotide variant |
Costello syndrome [RCV001360423]|not provided [RCV002269365] |
Chr11:532670 [GRCh38] Chr11:532670 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_532636)_(533622_?)dup |
duplication |
Costello syndrome [RCV001364984] |
Chr11:532636..533622 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.361G>A (p.Ala121Thr) |
single nucleotide variant |
Costello syndrome [RCV001338691]|Ovarian cancer [RCV003153999] |
Chr11:533542 [GRCh38] Chr11:533542 [GRCh37] Chr11:11p15.5 |
benign|uncertain significance |
NM_005343.4(HRAS):c.391C>G (p.Gln131Glu) |
single nucleotide variant |
Costello syndrome [RCV001321875] |
Chr11:533512 [GRCh38] Chr11:533512 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.211T>C (p.Tyr71His) |
single nucleotide variant |
Costello syndrome [RCV001370190] |
Chr11:533845 [GRCh38] Chr11:533845 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.269T>C (p.Phe90Ser) |
single nucleotide variant |
Costello syndrome [RCV001307584] |
Chr11:533787 [GRCh38] Chr11:533787 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.542G>A (p.Cys181Tyr) |
single nucleotide variant |
Costello syndrome [RCV001346242] |
Chr11:532664 [GRCh38] Chr11:532664 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.138T>G (p.Ile46Met) |
single nucleotide variant |
Costello syndrome [RCV001297540] |
Chr11:533918 [GRCh38] Chr11:533918 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.260C>T (p.Thr87Ile) |
single nucleotide variant |
Costello syndrome [RCV001347584] |
Chr11:533796 [GRCh38] Chr11:533796 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.358C>G (p.Leu120Val) |
single nucleotide variant |
Costello syndrome [RCV001324745] |
Chr11:533545 [GRCh38] Chr11:533545 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.134T>A (p.Val45Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169563]|Costello syndrome [RCV001335259] |
Chr11:533922 [GRCh38] Chr11:533922 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_532636)_(534322_?)dup |
duplication |
Costello syndrome [RCV001308943] |
Chr11:532636..534322 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.479T>C (p.Val160Ala) |
single nucleotide variant |
Costello syndrome [RCV001319495] |
Chr11:532727 [GRCh38] Chr11:532727 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.469T>C (p.Tyr157His) |
single nucleotide variant |
Costello syndrome [RCV001305343] |
Chr11:532737 [GRCh38] Chr11:532737 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.379T>C (p.Ser127Pro) |
single nucleotide variant |
Costello syndrome [RCV001350388] |
Chr11:533524 [GRCh38] Chr11:533524 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.517C>T (p.Pro173Ser) |
single nucleotide variant |
Costello syndrome [RCV001325045]|not provided [RCV002466661] |
Chr11:532689 [GRCh38] Chr11:532689 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.-2C>A |
single nucleotide variant |
not specified [RCV001328343] |
Chr11:534324 [GRCh38] Chr11:534324 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.404G>A (p.Arg135Gln) |
single nucleotide variant |
Costello syndrome [RCV001298446] |
Chr11:533499 [GRCh38] Chr11:533499 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 |
copy number gain |
See cases [RCV001310286] |
Chr11:10701..5080415 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_005343.4(HRAS):c.370A>G (p.Thr124Ala) |
single nucleotide variant |
Costello syndrome [RCV001351593]|not provided [RCV002224077] |
Chr11:533533 [GRCh38] Chr11:533533 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.245T>C (p.Phe82Ser) |
single nucleotide variant |
Costello syndrome [RCV001306208] |
Chr11:533811 [GRCh38] Chr11:533811 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.99C>T (p.Asp33=) |
single nucleotide variant |
Costello syndrome [RCV001413845] |
Chr11:534224 [GRCh38] Chr11:534224 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.273G>A (p.Glu91=) |
single nucleotide variant |
Costello syndrome [RCV001492334] |
Chr11:533783 [GRCh38] Chr11:533783 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.402C>G (p.Ala134=) |
single nucleotide variant |
Costello syndrome [RCV001499031] |
Chr11:533501 [GRCh38] Chr11:533501 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.366A>G (p.Ala122=) |
single nucleotide variant |
Costello syndrome [RCV001459233] |
Chr11:533537 [GRCh38] Chr11:533537 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.390T>G (p.Ala130=) |
single nucleotide variant |
Costello syndrome [RCV001402800] |
Chr11:533513 [GRCh38] Chr11:533513 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.255C>T (p.Asn85=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432305]|Costello syndrome [RCV001466181] |
Chr11:533801 [GRCh38] Chr11:533801 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.33C>T (p.Ala11=) |
single nucleotide variant |
Costello syndrome [RCV001467991] |
Chr11:534290 [GRCh38] Chr11:534290 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.297G>A (p.Gln99=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002439133]|Costello syndrome [RCV001474289] |
Chr11:533606 [GRCh38] Chr11:533606 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.399C>T (p.Leu133=) |
single nucleotide variant |
Costello syndrome [RCV001400583] |
Chr11:533504 [GRCh38] Chr11:533504 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.393G>A (p.Gln131=) |
single nucleotide variant |
Costello syndrome [RCV001468249] |
Chr11:533510 [GRCh38] Chr11:533510 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.222C>G (p.Thr74=) |
single nucleotide variant |
Costello syndrome [RCV001429768] |
Chr11:533834 [GRCh38] Chr11:533834 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.159G>A (p.Leu53=) |
single nucleotide variant |
Costello syndrome [RCV001404417] |
Chr11:533897 [GRCh38] Chr11:533897 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.375G>C (p.Val125=) |
single nucleotide variant |
Costello syndrome [RCV001407667] |
Chr11:533528 [GRCh38] Chr11:533528 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.414C>A (p.Gly138=) |
single nucleotide variant |
Costello syndrome [RCV001444684] |
Chr11:533489 [GRCh38] Chr11:533489 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.318G>A (p.Ser106=) |
single nucleotide variant |
Costello syndrome [RCV001442126] |
Chr11:533585 [GRCh38] Chr11:533585 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.123G>C (p.Arg41=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002384695]|Costello syndrome [RCV001447692] |
Chr11:533933 [GRCh38] Chr11:533933 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291-10C>T |
single nucleotide variant |
Costello syndrome [RCV001440352] |
Chr11:533622 [GRCh38] Chr11:533622 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.483T>C (p.Arg161=) |
single nucleotide variant |
Costello syndrome [RCV001411333] |
Chr11:532723 [GRCh38] Chr11:532723 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.198C>T (p.Ala66=) |
single nucleotide variant |
Costello syndrome [RCV001438160] |
Chr11:533858 [GRCh38] Chr11:533858 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.147G>A (p.Glu49=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002396039]|Costello syndrome [RCV001448313] |
Chr11:533909 [GRCh38] Chr11:533909 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.288C>T (p.Tyr96=) |
single nucleotide variant |
Costello syndrome [RCV001445773] |
Chr11:533768 [GRCh38] Chr11:533768 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.420C>T (p.Pro140=) |
single nucleotide variant |
Costello syndrome [RCV001411688] |
Chr11:533483 [GRCh38] Chr11:533483 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.535649C>T |
single nucleotide variant |
not provided [RCV001673907] |
Chr11:535649 [GRCh38] Chr11:535649 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.165C>T (p.Ile55=) |
single nucleotide variant |
Costello syndrome [RCV001473943] |
Chr11:533891 [GRCh38] Chr11:533891 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.*5+29C>T |
single nucleotide variant |
not provided [RCV001649520] |
Chr11:532602 [GRCh38] Chr11:532602 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.396C>T (p.Asp132=) |
single nucleotide variant |
Costello syndrome [RCV001455181] |
Chr11:533507 [GRCh38] Chr11:533507 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.535596C>T |
single nucleotide variant |
not provided [RCV001713285] |
Chr11:535596 [GRCh38] Chr11:535596 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.-101C>T |
single nucleotide variant |
Noonan syndrome and Noonan-related syndrome [RCV001813603]|not provided [RCV001615855] |
Chr11:535463 [GRCh38] Chr11:535463 [GRCh37] Chr11:11p15.5 |
benign|uncertain significance |
NM_005343.4(HRAS):c.192C>T (p.Tyr64=) |
single nucleotide variant |
Costello syndrome [RCV001459048]|HRAS-related condition [RCV003965911]|not specified [RCV002282553] |
Chr11:533864 [GRCh38] Chr11:533864 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.-53-10T>C |
single nucleotide variant |
not provided [RCV001715651] |
Chr11:534385 [GRCh38] Chr11:534385 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.-54+47C>T |
single nucleotide variant |
not provided [RCV001649465] |
Chr11:535369 [GRCh38] Chr11:535369 [GRCh37] Chr11:11p15.5 |
benign |
NM_005343.4(HRAS):c.202C>A (p.Arg68=) |
single nucleotide variant |
Costello syndrome [RCV001498417] |
Chr11:533854 [GRCh38] Chr11:533854 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.435G>C (p.Ser145=) |
single nucleotide variant |
Costello syndrome [RCV001503034] |
Chr11:533468 [GRCh38] Chr11:533468 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.345G>A (p.Gly115=) |
single nucleotide variant |
Costello syndrome [RCV001506532] |
Chr11:533558 [GRCh38] Chr11:533558 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.489C>A (p.Ile163=) |
single nucleotide variant |
Costello syndrome [RCV001453562] |
Chr11:532717 [GRCh38] Chr11:532717 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.177C>G (p.Ala59=) |
single nucleotide variant |
Costello syndrome [RCV001457720] |
Chr11:533879 [GRCh38] Chr11:533879 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.465C>T (p.Ala155=) |
single nucleotide variant |
Costello syndrome [RCV001486095] |
Chr11:532741 [GRCh38] Chr11:532741 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.30C>T (p.Gly10=) |
single nucleotide variant |
Costello syndrome [RCV001453365] |
Chr11:534293 [GRCh38] Chr11:534293 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.438C>A (p.Ala146=) |
single nucleotide variant |
Costello syndrome [RCV001432469] |
Chr11:533465 [GRCh38] Chr11:533465 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.235C>T (p.Leu79=) |
single nucleotide variant |
Costello syndrome [RCV001459074] |
Chr11:533821 [GRCh38] Chr11:533821 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.112-6C>T |
single nucleotide variant |
Costello syndrome [RCV001400227] |
Chr11:533950 [GRCh38] Chr11:533950 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.55C>T (p.Leu19=) |
single nucleotide variant |
Costello syndrome [RCV001443802] |
Chr11:534268 [GRCh38] Chr11:534268 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.258C>T (p.Asn86=) |
single nucleotide variant |
Costello syndrome [RCV001452227] |
Chr11:533798 [GRCh38] Chr11:533798 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.15G>A (p.Lys5=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002404980]|Costello syndrome [RCV001416541] |
Chr11:534308 [GRCh38] Chr11:534308 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.279C>T (p.Ile93=) |
single nucleotide variant |
Costello syndrome [RCV001435343] |
Chr11:533777 [GRCh38] Chr11:533777 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.360G>C (p.Leu120=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456867]|Costello syndrome [RCV001489223] |
Chr11:533543 [GRCh38] Chr11:533543 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.567C>G (p.Ser189=) |
single nucleotide variant |
Costello syndrome [RCV001465161] |
Chr11:532639 [GRCh38] Chr11:532639 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.417C>T (p.Ile139=) |
single nucleotide variant |
Costello syndrome [RCV001430947] |
Chr11:533486 [GRCh38] Chr11:533486 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291-9del |
deletion |
Costello syndrome [RCV001505890]|HRAS-related condition [RCV003948481] |
Chr11:533621 [GRCh38] Chr11:533621 [GRCh37] Chr11:11p15.5 |
likely benign |
GRCh37/hg19 11p15.5(chr11:528484-534377)x1 |
copy number loss |
not provided [RCV001726859] |
Chr11:528484..534377 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.220A>G (p.Thr74Ala) |
single nucleotide variant |
Costello syndrome [RCV003109166] |
Chr11:533836 [GRCh38] Chr11:533836 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.424A>T (p.Ile142Phe) |
single nucleotide variant |
Costello syndrome [RCV003105215] |
Chr11:533479 [GRCh38] Chr11:533479 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.481C>G (p.Arg161Gly) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002258705] |
Chr11:532725 [GRCh38] Chr11:532725 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.454G>A (p.Val152Met) |
single nucleotide variant |
Costello syndrome [RCV002541093]|not provided [RCV001777111] |
Chr11:532752 [GRCh38] Chr11:532752 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_176795.5(HRAS):c.488_497del (p.Leu163fs) |
deletion |
Costello syndrome [RCV001775533] |
Chr11:533312..533321 [GRCh38] Chr11:533312..533321 [GRCh37] Chr11:11p15.5 |
pathogenic|likely pathogenic |
NM_005343.4(HRAS):c.466T>C (p.Phe156Leu) |
single nucleotide variant |
Costello syndrome [RCV001789705] |
Chr11:532740 [GRCh38] Chr11:532740 [GRCh37] Chr11:11p15.5 |
pathogenic |
NM_005343.4(HRAS):c.-54+103CGG[6] |
microsatellite |
not provided [RCV001762843] |
Chr11:535290..535295 [GRCh38] Chr11:535290..535295 [GRCh37] Chr11:11p15.5 |
benign |
NM_176795.5(HRAS):c.481G>A (p.Gly161Arg) |
single nucleotide variant |
not provided [RCV003238053] |
Chr11:533328 [GRCh38] Chr11:533328 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.521C>A (p.Pro174His) |
single nucleotide variant |
Noonan syndrome and Noonan-related syndrome [RCV001813656] |
Chr11:532685 [GRCh38] Chr11:532685 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.175G>T (p.Ala59Ser) |
single nucleotide variant |
Costello syndrome [RCV002541490]|Noonan syndrome and Noonan-related syndrome [RCV001813657] |
Chr11:533881 [GRCh38] Chr11:533881 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.543C>T (p.Cys181=) |
single nucleotide variant |
Costello syndrome [RCV001988101] |
Chr11:532663 [GRCh38] Chr11:532663 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 |
copy number gain |
not provided [RCV001825269] |
Chr11:230615..5525355 [GRCh37] Chr11:11p15.5-15.4 |
not provided |
NM_005343.4(HRAS):c.551G>A (p.Cys184Tyr) |
single nucleotide variant |
Costello syndrome [RCV001874567] |
Chr11:532655 [GRCh38] Chr11:532655 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.400G>A (p.Ala134Thr) |
single nucleotide variant |
Costello syndrome [RCV001915290] |
Chr11:533503 [GRCh38] Chr11:533503 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.11A>C (p.Tyr4Ser) |
single nucleotide variant |
Costello syndrome [RCV001912723] |
Chr11:534312 [GRCh38] Chr11:534312 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.425T>C (p.Ile142Thr) |
single nucleotide variant |
Costello syndrome [RCV001871491] |
Chr11:533478 [GRCh38] Chr11:533478 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.474_475del (p.Leu159fs) |
deletion |
Costello syndrome [RCV001926608] |
Chr11:532731..532732 [GRCh38] Chr11:532731..532732 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.413G>T (p.Gly138Val) |
single nucleotide variant |
Costello syndrome [RCV002021551] |
Chr11:533490 [GRCh38] Chr11:533490 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.115T>A (p.Ser39Thr) |
single nucleotide variant |
Costello syndrome [RCV001948765] |
Chr11:533941 [GRCh38] Chr11:533941 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.313G>A (p.Asp105Asn) |
single nucleotide variant |
Costello syndrome [RCV001948371] |
Chr11:533590 [GRCh38] Chr11:533590 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.376G>C (p.Glu126Gln) |
single nucleotide variant |
Costello syndrome [RCV001948892] |
Chr11:533527 [GRCh38] Chr11:533527 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.429G>C (p.Glu143Asp) |
single nucleotide variant |
Costello syndrome [RCV002004007] |
Chr11:533474 [GRCh38] Chr11:533474 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.482_511del (p.Arg161_Lys170del) |
deletion |
Costello syndrome [RCV001872917] |
Chr11:532695..532724 [GRCh38] Chr11:532695..532724 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.307G>C (p.Val103Leu) |
single nucleotide variant |
Costello syndrome [RCV002040529] |
Chr11:533596 [GRCh38] Chr11:533596 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.99C>A (p.Asp33Glu) |
single nucleotide variant |
Costello syndrome [RCV001908473] |
Chr11:534224 [GRCh38] Chr11:534224 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.331A>G (p.Met111Val) |
single nucleotide variant |
Costello syndrome [RCV001986343] |
Chr11:533572 [GRCh38] Chr11:533572 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.278T>C (p.Ile93Thr) |
single nucleotide variant |
Parathyroid gland adenoma [RCV001843332] |
Chr11:533778 [GRCh38] Chr11:533778 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.107T>C (p.Ile36Thr) |
single nucleotide variant |
Costello syndrome [RCV001888117] |
Chr11:534216 [GRCh38] Chr11:534216 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.145G>C (p.Glu49Gln) |
single nucleotide variant |
Costello syndrome [RCV002038934] |
Chr11:533911 [GRCh38] Chr11:533911 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.112-10C>A |
single nucleotide variant |
Costello syndrome [RCV002014909] |
Chr11:533954 [GRCh38] Chr11:533954 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.530G>A (p.Ser177Asn) |
single nucleotide variant |
Costello syndrome [RCV001888222] |
Chr11:532676 [GRCh38] Chr11:532676 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.88G>A (p.Asp30Asn) |
single nucleotide variant |
Costello syndrome [RCV001996287] |
Chr11:534235 [GRCh38] Chr11:534235 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_532636)_(695047_?)dup |
duplication |
not provided [RCV001955722] |
Chr11:532636..695047 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.110_111+5del |
deletion |
Costello syndrome [RCV001918065] |
Chr11:534207..534213 [GRCh38] Chr11:534207..534213 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.551G>C (p.Cys184Ser) |
single nucleotide variant |
Costello syndrome [RCV001918427] |
Chr11:532655 [GRCh38] Chr11:532655 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.292G>A (p.Glu98Lys) |
single nucleotide variant |
Costello syndrome [RCV001931785] |
Chr11:533611 [GRCh38] Chr11:533611 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.368G>A (p.Arg123His) |
single nucleotide variant |
Costello syndrome [RCV002027674] |
Chr11:533535 [GRCh38] Chr11:533535 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.415A>T (p.Ile139Phe) |
single nucleotide variant |
Costello syndrome [RCV001952572] |
Chr11:533488 [GRCh38] Chr11:533488 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.223G>A (p.Gly75Arg) |
single nucleotide variant |
Costello syndrome [RCV001900092] |
Chr11:533833 [GRCh38] Chr11:533833 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.362C>A (p.Ala121Asp) |
single nucleotide variant |
Costello syndrome [RCV002048924] |
Chr11:533541 [GRCh38] Chr11:533541 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.365C>T (p.Ala122Val) |
single nucleotide variant |
Costello syndrome [RCV001921064] |
Chr11:533538 [GRCh38] Chr11:533538 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_532636)_(533328_?)del |
deletion |
Costello syndrome [RCV001938968] |
Chr11:532636..533328 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.202C>T (p.Arg68Trp) |
single nucleotide variant |
Costello syndrome [RCV001906898]|not provided [RCV003235615] |
Chr11:533854 [GRCh38] Chr11:533854 [GRCh37] Chr11:11p15.5 |
likely pathogenic|uncertain significance |
NM_005343.4(HRAS):c.112-13T>C |
single nucleotide variant |
Costello syndrome [RCV001919222] |
Chr11:533957 [GRCh38] Chr11:533957 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.103A>G (p.Thr35Ala) |
single nucleotide variant |
Costello syndrome [RCV001997641] |
Chr11:534220 [GRCh38] Chr11:534220 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_533443)_(534322_?)dup |
duplication |
Costello syndrome [RCV001952155] |
Chr11:533443..534322 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.111+11C>T |
single nucleotide variant |
Costello syndrome [RCV002017298] |
Chr11:534201 [GRCh38] Chr11:534201 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.325G>A (p.Val109Met) |
single nucleotide variant |
Costello syndrome [RCV001925424] |
Chr11:533578 [GRCh38] Chr11:533578 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.364G>A (p.Ala122Thr) |
single nucleotide variant |
Costello syndrome [RCV001972181] |
Chr11:533539 [GRCh38] Chr11:533539 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.445del (p.Arg149fs) |
deletion |
Costello syndrome [RCV001917597] |
Chr11:533458 [GRCh38] Chr11:533458 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.414C>T (p.Gly138=) |
single nucleotide variant |
Costello syndrome [RCV001952892] |
Chr11:533489 [GRCh38] Chr11:533489 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.44G>C (p.Gly15Ala) |
single nucleotide variant |
Costello syndrome [RCV001922109] |
Chr11:534279 [GRCh38] Chr11:534279 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.496C>T (p.His166Tyr) |
single nucleotide variant |
Costello syndrome [RCV001938019] |
Chr11:532710 [GRCh38] Chr11:532710 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_216698)_(720766_?)dup |
duplication |
Immunodeficiency 39 [RCV001923869] |
Chr11:216698..720766 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.127C>T (p.Gln43Ter) |
single nucleotide variant |
Costello syndrome [RCV001959252] |
Chr11:533929 [GRCh38] Chr11:533929 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.136A>G (p.Ile46Val) |
single nucleotide variant |
Costello syndrome [RCV002017989]|not provided [RCV003332372] |
Chr11:533920 [GRCh38] Chr11:533920 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.476T>C (p.Leu159Ser) |
single nucleotide variant |
Costello syndrome [RCV002050671] |
Chr11:532730 [GRCh38] Chr11:532730 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.535C>T (p.Pro179Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002344051]|Costello syndrome [RCV001919589]|not provided [RCV003159220] |
Chr11:532671 [GRCh38] Chr11:532671 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.5C>G (p.Thr2Arg) |
single nucleotide variant |
Costello syndrome [RCV001917995] |
Chr11:534318 [GRCh38] Chr11:534318 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.383G>T (p.Arg128Leu) |
single nucleotide variant |
Costello syndrome [RCV002033573] |
Chr11:533520 [GRCh38] Chr11:533520 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.375G>A (p.Val125=) |
single nucleotide variant |
Costello syndrome [RCV001975953] |
Chr11:533528 [GRCh38] Chr11:533528 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.367C>G (p.Arg123Gly) |
single nucleotide variant |
Costello syndrome [RCV001953316] |
Chr11:533536 [GRCh38] Chr11:533536 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.171_185dup (p.Asp57_Gln61dup) |
duplication |
Costello syndrome [RCV001974222] |
Chr11:533870..533871 [GRCh38] Chr11:533870..533871 [GRCh37] Chr11:11p15.5 |
likely pathogenic|uncertain significance |
NM_005343.4(HRAS):c.285G>C (p.Gln95His) |
single nucleotide variant |
Costello syndrome [RCV001935564] |
Chr11:533771 [GRCh38] Chr11:533771 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.150G>T (p.Thr50=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391278]|Costello syndrome [RCV002145600] |
Chr11:533906 [GRCh38] Chr11:533906 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.166C>T (p.Leu56=) |
single nucleotide variant |
Costello syndrome [RCV002089090] |
Chr11:533890 [GRCh38] Chr11:533890 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.290+14G>A |
single nucleotide variant |
Costello syndrome [RCV002187185] |
Chr11:533752 [GRCh38] Chr11:533752 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.12T>C (p.Tyr4=) |
single nucleotide variant |
Costello syndrome [RCV002205476] |
Chr11:534311 [GRCh38] Chr11:534311 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.459G>A (p.Glu153=) |
single nucleotide variant |
Costello syndrome [RCV002188265] |
Chr11:532747 [GRCh38] Chr11:532747 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291-13T>G |
single nucleotide variant |
Costello syndrome [RCV002104738] |
Chr11:533625 [GRCh38] Chr11:533625 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.111+18G>A |
single nucleotide variant |
Costello syndrome [RCV002109318] |
Chr11:534194 [GRCh38] Chr11:534194 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.210G>A (p.Gln70=) |
single nucleotide variant |
Costello syndrome [RCV002106859] |
Chr11:533846 [GRCh38] Chr11:533846 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.112-14C>T |
single nucleotide variant |
Costello syndrome [RCV002192380] |
Chr11:533958 [GRCh38] Chr11:533958 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.126G>A (p.Lys42=) |
single nucleotide variant |
Costello syndrome [RCV002207120] |
Chr11:533930 [GRCh38] Chr11:533930 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291-16G>A |
single nucleotide variant |
Costello syndrome [RCV002087656] |
Chr11:533628 [GRCh38] Chr11:533628 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.315C>T (p.Asp105=) |
single nucleotide variant |
Costello syndrome [RCV002146422] |
Chr11:533588 [GRCh38] Chr11:533588 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291-16G>C |
single nucleotide variant |
Costello syndrome [RCV002167655] |
Chr11:533628 [GRCh38] Chr11:533628 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-17C>T |
single nucleotide variant |
Costello syndrome [RCV002081150] |
Chr11:532772 [GRCh38] Chr11:532772 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-13C>A |
single nucleotide variant |
Costello syndrome [RCV002193154] |
Chr11:532768 [GRCh38] Chr11:532768 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.112-19G>A |
single nucleotide variant |
Costello syndrome [RCV002197464] |
Chr11:533963 [GRCh38] Chr11:533963 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.304C>A (p.Arg102=) |
single nucleotide variant |
Costello syndrome [RCV002113793] |
Chr11:533599 [GRCh38] Chr11:533599 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.112-12G>A |
single nucleotide variant |
Costello syndrome [RCV002097425] |
Chr11:533956 [GRCh38] Chr11:533956 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291-17C>T |
single nucleotide variant |
Costello syndrome [RCV002080842] |
Chr11:533629 [GRCh38] Chr11:533629 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-22_451-8dup |
duplication |
Costello syndrome [RCV002149986] |
Chr11:532762..532763 [GRCh38] Chr11:532762..532763 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.555G>A (p.Lys185=) |
single nucleotide variant |
Costello syndrome [RCV002152245] |
Chr11:532651 [GRCh38] Chr11:532651 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.540C>T (p.Gly180=) |
single nucleotide variant |
Costello syndrome [RCV002077104] |
Chr11:532666 [GRCh38] Chr11:532666 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291-15C>T |
single nucleotide variant |
Costello syndrome [RCV002093772] |
Chr11:533627 [GRCh38] Chr11:533627 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.324C>T (p.Asp108=) |
single nucleotide variant |
Costello syndrome [RCV002094596] |
Chr11:533579 [GRCh38] Chr11:533579 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-13C>T |
single nucleotide variant |
Costello syndrome [RCV002126356] |
Chr11:532768 [GRCh38] Chr11:532768 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-14C>T |
single nucleotide variant |
Costello syndrome [RCV002215359] |
Chr11:532769 [GRCh38] Chr11:532769 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.480G>C (p.Val160=) |
single nucleotide variant |
Costello syndrome [RCV002128170] |
Chr11:532726 [GRCh38] Chr11:532726 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+16A>G |
single nucleotide variant |
Costello syndrome [RCV002173201] |
Chr11:533437 [GRCh38] Chr11:533437 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.249C>G (p.Ala83=) |
single nucleotide variant |
Costello syndrome [RCV002078499] |
Chr11:533807 [GRCh38] Chr11:533807 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+20C>G |
single nucleotide variant |
Costello syndrome [RCV002197051] |
Chr11:533433 [GRCh38] Chr11:533433 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.195C>T (p.Ser65=) |
single nucleotide variant |
Costello syndrome [RCV002180731] |
Chr11:533861 [GRCh38] Chr11:533861 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-9C>T |
single nucleotide variant |
Costello syndrome [RCV002159464] |
Chr11:532764 [GRCh38] Chr11:532764 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-15T>C |
single nucleotide variant |
Costello syndrome [RCV002121516] |
Chr11:532770 [GRCh38] Chr11:532770 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.462T>C (p.Asp154=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002337232]|Costello syndrome [RCV002220462] |
Chr11:532744 [GRCh38] Chr11:532744 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.284A>G (p.Gln95Arg) |
single nucleotide variant |
Costello syndrome [RCV002198241] |
Chr11:533772 [GRCh38] Chr11:533772 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.300C>T (p.Ile100=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434578]|Costello syndrome [RCV002154476] |
Chr11:533603 [GRCh38] Chr11:533603 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+13T>C |
single nucleotide variant |
Costello syndrome [RCV002098481] |
Chr11:533440 [GRCh38] Chr11:533440 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.138T>C (p.Ile46=) |
single nucleotide variant |
Costello syndrome [RCV002200887] |
Chr11:533918 [GRCh38] Chr11:533918 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.37_38inv (p.Gly13Pro) |
inversion |
not specified [RCV002223171] |
Chr11:534285..534286 [GRCh38] Chr11:534285..534286 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.111+8T>C |
single nucleotide variant |
Costello syndrome [RCV002178880] |
Chr11:534204 [GRCh38] Chr11:534204 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-6T>C |
single nucleotide variant |
Costello syndrome [RCV002081687] |
Chr11:532761 [GRCh38] Chr11:532761 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.495G>A (p.Gln165=) |
single nucleotide variant |
Costello syndrome [RCV002218948] |
Chr11:532711 [GRCh38] Chr11:532711 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.342G>C (p.Val114=) |
single nucleotide variant |
Costello syndrome [RCV002183336] |
Chr11:533561 [GRCh38] Chr11:533561 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.290+10G>C |
single nucleotide variant |
Costello syndrome [RCV002198483] |
Chr11:533756 [GRCh38] Chr11:533756 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.564C>G (p.Leu188=) |
single nucleotide variant |
Costello syndrome [RCV002164139] |
Chr11:532642 [GRCh38] Chr11:532642 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+15C>T |
single nucleotide variant |
Costello syndrome [RCV002100893] |
Chr11:533438 [GRCh38] Chr11:533438 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.112-9C>T |
single nucleotide variant |
Costello syndrome [RCV002100938] |
Chr11:533953 [GRCh38] Chr11:533953 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_176795.5(HRAS):c.451-12_451del |
deletion |
not specified [RCV002223165] |
Chr11:533358..533370 [GRCh38] Chr11:533358..533370 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.291-18T>C |
single nucleotide variant |
Costello syndrome [RCV002164572] |
Chr11:533630 [GRCh38] Chr11:533630 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.237G>T (p.Leu79=) |
single nucleotide variant |
Costello syndrome [RCV002083168] |
Chr11:533819 [GRCh38] Chr11:533819 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-12C>T |
single nucleotide variant |
Costello syndrome [RCV002217118] |
Chr11:532767 [GRCh38] Chr11:532767 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.111+17C>T |
single nucleotide variant |
Costello syndrome [RCV002202177] |
Chr11:534195 [GRCh38] Chr11:534195 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.447G>A (p.Arg149=) |
single nucleotide variant |
Costello syndrome [RCV002178605] |
Chr11:533456 [GRCh38] Chr11:533456 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.112-19G>C |
single nucleotide variant |
Costello syndrome [RCV002140662] |
Chr11:533963 [GRCh38] Chr11:533963 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291-15C>A |
single nucleotide variant |
Costello syndrome [RCV002198596] |
Chr11:533627 [GRCh38] Chr11:533627 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.112-20dup |
duplication |
Costello syndrome [RCV002198809] |
Chr11:533963..533964 [GRCh38] Chr11:533963..533964 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.408C>T (p.Ser136=) |
single nucleotide variant |
Costello syndrome [RCV002158888] |
Chr11:533495 [GRCh38] Chr11:533495 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.6G>A (p.Thr2=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002373015]|Costello syndrome [RCV002159247] |
Chr11:534317 [GRCh38] Chr11:534317 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.9:g.(?_532636)_(819925_?)dup |
duplication |
Neutral lipid storage myopathy [RCV003109697] |
Chr11:532636..819925 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.55C>A (p.Leu19Met) |
single nucleotide variant |
Costello syndrome [RCV003111807] |
Chr11:534268 [GRCh38] Chr11:534268 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.489C>G (p.Ile163Met) |
single nucleotide variant |
Costello syndrome [RCV003111810] |
Chr11:532717 [GRCh38] Chr11:532717 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.376G>T (p.Glu126Ter) |
single nucleotide variant |
Costello syndrome [RCV003116030] |
Chr11:533527 [GRCh38] Chr11:533527 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.9:g.(?_532636)_(554276_?)dup |
duplication |
Costello syndrome [RCV003116352]|not provided [RCV003116353] |
Chr11:532636..554276 [GRCh37] Chr11:11p15.5 |
uncertain significance|no classifications from unflagged records |
NM_005343.4(HRAS):c.191_220dup (p.Arg73_Thr74insAsnSerAlaMetArgAspGlnTyrMetArg) |
duplication |
not provided [RCV002254474] |
Chr11:533835..533836 [GRCh38] Chr11:533835..533836 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
NM_005343.4(HRAS):c.221C>T (p.Thr74Ile) |
single nucleotide variant |
Costello syndrome [RCV003774794]|Hereditary cancer-predisposing syndrome [RCV002259278] |
Chr11:533835 [GRCh38] Chr11:533835 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.191_217dup (p.Met72_Arg73insHisSerAlaMetArgAspGlnTyrMet) |
duplication |
not provided [RCV002254473] |
Chr11:533838..533839 [GRCh38] Chr11:533838..533839 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 |
copy number gain |
See cases [RCV002286351] |
Chr11:230615..26881146 [GRCh37] Chr11:11p15.5-14.2 |
pathogenic |
NM_005343.4(HRAS):c.199A>T (p.Met67Leu) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002292424] |
Chr11:533857 [GRCh38] Chr11:533857 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.262A>T (p.Lys88Ter) |
single nucleotide variant |
not provided [RCV002292174] |
Chr11:533794 [GRCh38] Chr11:533794 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.146del (p.Glu49fs) |
deletion |
Prostate cancer, hereditary, 1 [RCV002292420] |
Chr11:533910 [GRCh38] Chr11:533910 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.144_145insC (p.Glu49fs) |
insertion |
Prostate cancer, hereditary, 1 [RCV002292421] |
Chr11:533911..533912 [GRCh38] Chr11:533911..533912 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.243G>T (p.Val81=) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002292423] |
Chr11:533813 [GRCh38] Chr11:533813 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del |
deletion |
Thalassemia, gamma-delta-beta [RCV000015529] |
Chr11:4999400..5279346 [GRCh38] Chr11:11p15.5-15.4 |
pathogenic |
NM_005343.4(HRAS):c.149delinsGA (p.Thr50fs) |
indel |
Prostate cancer, hereditary, 1 [RCV002292419] |
Chr11:533907 [GRCh38] Chr11:533907 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.170A>C (p.Asp57Ala) |
single nucleotide variant |
Prostate cancer, hereditary, 1 [RCV002292422] |
Chr11:533886 [GRCh38] Chr11:533886 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.302A>T (p.Lys101Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435979] |
Chr11:533601 [GRCh38] Chr11:533601 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.290+3G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002438068]|Costello syndrome [RCV003102855] |
Chr11:533763 [GRCh38] Chr11:533763 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 |
copy number gain |
not provided [RCV002473945] |
Chr11:461373..2157956 [GRCh37] Chr11:11p15.5 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 |
copy number gain |
not provided [RCV002472435] |
Chr11:230616..8250724 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_005343.4(HRAS):c.559G>A (p.Val187Met) |
single nucleotide variant |
Costello syndrome [RCV002304250] |
Chr11:532647 [GRCh38] Chr11:532647 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.276C>T (p.Asp92=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002439594] |
Chr11:533780 [GRCh38] Chr11:533780 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.484G>C (p.Glu162Gln) |
single nucleotide variant |
Costello syndrome [RCV002302904] |
Chr11:532722 [GRCh38] Chr11:532722 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.21G>C (p.Val7=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002425716]|Costello syndrome [RCV003098707]|not provided [RCV002466758] |
Chr11:534302 [GRCh38] Chr11:534302 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.19G>T (p.Val7Leu) |
single nucleotide variant |
Costello syndrome [RCV002296714] |
Chr11:534304 [GRCh38] Chr11:534304 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.530G>C (p.Ser177Thr) |
single nucleotide variant |
Costello syndrome [RCV002300209] |
Chr11:532676 [GRCh38] Chr11:532676 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.325G>T (p.Val109Leu) |
single nucleotide variant |
Costello syndrome [RCV002295996] |
Chr11:533578 [GRCh38] Chr11:533578 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.157T>C (p.Leu53=) |
single nucleotide variant |
Costello syndrome [RCV002686015] |
Chr11:533899 [GRCh38] Chr11:533899 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.194G>A (p.Ser65Asn) |
single nucleotide variant |
Costello syndrome [RCV003074548] |
Chr11:533862 [GRCh38] Chr11:533862 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.451G>A (p.Gly151Arg) |
single nucleotide variant |
Costello syndrome [RCV002996801] |
Chr11:532755 [GRCh38] Chr11:532755 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.401_402insAAGACCTCGC (p.Ser136fs) |
insertion |
Costello syndrome [RCV002881981] |
Chr11:533501..533502 [GRCh38] Chr11:533501..533502 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.534C>T (p.Gly178=) |
single nucleotide variant |
Costello syndrome [RCV002775568] |
Chr11:532672 [GRCh38] Chr11:532672 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.473C>G (p.Thr158Arg) |
single nucleotide variant |
Costello syndrome [RCV003076952] |
Chr11:532733 [GRCh38] Chr11:532733 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.150G>C (p.Thr50=) |
single nucleotide variant |
Costello syndrome [RCV002858072] |
Chr11:533906 [GRCh38] Chr11:533906 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.177_433dup (p.Glu98Ter) |
duplication |
Costello syndrome [RCV002903700] |
Chr11:533463..533464 [GRCh38] Chr11:533463..533464 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.112-18A>T |
single nucleotide variant |
Costello syndrome [RCV003015653] |
Chr11:533962 [GRCh38] Chr11:533962 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.529_531del (p.Ser177del) |
deletion |
Costello syndrome [RCV002861544] |
Chr11:532675..532677 [GRCh38] Chr11:532675..532677 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.16_24del (p.Leu6_Val8del) |
deletion |
Costello syndrome [RCV002863174] |
Chr11:534299..534307 [GRCh38] Chr11:534299..534307 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.531T>C (p.Ser177=) |
single nucleotide variant |
Costello syndrome [RCV002571927] |
Chr11:532675 [GRCh38] Chr11:532675 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.518C>G (p.Pro173Arg) |
single nucleotide variant |
Costello syndrome [RCV002825450] |
Chr11:532688 [GRCh38] Chr11:532688 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.262A>G (p.Lys88Glu) |
single nucleotide variant |
Costello syndrome [RCV002846474] |
Chr11:533794 [GRCh38] Chr11:533794 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.451-19C>T |
single nucleotide variant |
Costello syndrome [RCV003078725] |
Chr11:532774 [GRCh38] Chr11:532774 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.290+19G>C |
single nucleotide variant |
Costello syndrome [RCV002760412] |
Chr11:533747 [GRCh38] Chr11:533747 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.112-17G>T |
single nucleotide variant |
Costello syndrome [RCV002998955] |
Chr11:533961 [GRCh38] Chr11:533961 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.540C>A (p.Gly180=) |
single nucleotide variant |
Costello syndrome [RCV002866882] |
Chr11:532666 [GRCh38] Chr11:532666 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+7C>T |
single nucleotide variant |
Costello syndrome [RCV003078717] |
Chr11:533446 [GRCh38] Chr11:533446 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.567C>T (p.Ser189=) |
single nucleotide variant |
Costello syndrome [RCV002592978] |
Chr11:532639 [GRCh38] Chr11:532639 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.402C>T (p.Ala134=) |
single nucleotide variant |
Costello syndrome [RCV002659302] |
Chr11:533501 [GRCh38] Chr11:533501 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.183G>A (p.Gln61=) |
single nucleotide variant |
Costello syndrome [RCV002705877] |
Chr11:533873 [GRCh38] Chr11:533873 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+14C>T |
single nucleotide variant |
Costello syndrome [RCV002658816] |
Chr11:533439 [GRCh38] Chr11:533439 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.250A>G (p.Ile84Val) |
single nucleotide variant |
Costello syndrome [RCV002571664] |
Chr11:533806 [GRCh38] Chr11:533806 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.290+7C>T |
single nucleotide variant |
Costello syndrome [RCV002636482] |
Chr11:533759 [GRCh38] Chr11:533759 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.313G>C (p.Asp105His) |
single nucleotide variant |
Costello syndrome [RCV003054560] |
Chr11:533590 [GRCh38] Chr11:533590 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.446G>A (p.Arg149Gln) |
single nucleotide variant |
Costello syndrome [RCV002885723]|HRAS-related condition [RCV003395528] |
Chr11:533457 [GRCh38] Chr11:533457 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.189G>C (p.Glu63Asp) |
single nucleotide variant |
Costello syndrome [RCV002705677] |
Chr11:533867 [GRCh38] Chr11:533867 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.403C>T (p.Arg135Ter) |
single nucleotide variant |
Costello syndrome [RCV003078535] |
Chr11:533500 [GRCh38] Chr11:533500 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.122G>C (p.Arg41Pro) |
single nucleotide variant |
Costello syndrome [RCV002790114] |
Chr11:533934 [GRCh38] Chr11:533934 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.253A>G (p.Asn85Asp) |
single nucleotide variant |
Costello syndrome [RCV002801443] |
Chr11:533803 [GRCh38] Chr11:533803 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.566_568del (p.Ser189del) |
deletion |
Costello syndrome [RCV003005736] |
Chr11:532638..532640 [GRCh38] Chr11:532638..532640 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.230G>A (p.Gly77Asp) |
single nucleotide variant |
Costello syndrome [RCV002595577] |
Chr11:533826 [GRCh38] Chr11:533826 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.477G>T (p.Leu159Phe) |
single nucleotide variant |
Costello syndrome [RCV003057735] |
Chr11:532729 [GRCh38] Chr11:532729 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.178G>C (p.Gly60Arg) |
single nucleotide variant |
Costello syndrome [RCV003082358] |
Chr11:533878 [GRCh38] Chr11:533878 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.44G>T (p.Gly15Val) |
single nucleotide variant |
Costello syndrome [RCV003057955] |
Chr11:534279 [GRCh38] Chr11:534279 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.151T>C (p.Cys51Arg) |
single nucleotide variant |
Costello syndrome [RCV003040416] |
Chr11:533905 [GRCh38] Chr11:533905 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.451G>C (p.Gly151Arg) |
single nucleotide variant |
Costello syndrome [RCV003084081] |
Chr11:532755 [GRCh38] Chr11:532755 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.225G>C (p.Gly75=) |
single nucleotide variant |
Costello syndrome [RCV002983034] |
Chr11:533831 [GRCh38] Chr11:533831 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.25dup (p.Val9fs) |
duplication |
Costello syndrome [RCV002581623] |
Chr11:534297..534298 [GRCh38] Chr11:534297..534298 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.451-4C>G |
single nucleotide variant |
Costello syndrome [RCV003010060] |
Chr11:532759 [GRCh38] Chr11:532759 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.191dup (p.Tyr64Ter) |
duplication |
Costello syndrome [RCV002877228] |
Chr11:533864..533865 [GRCh38] Chr11:533864..533865 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.450+9G>A |
single nucleotide variant |
Costello syndrome [RCV002578989] |
Chr11:533444 [GRCh38] Chr11:533444 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.438C>T (p.Ala146=) |
single nucleotide variant |
Costello syndrome [RCV003089864] |
Chr11:533465 [GRCh38] Chr11:533465 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+18C>A |
single nucleotide variant |
Costello syndrome [RCV002715106] |
Chr11:533435 [GRCh38] Chr11:533435 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.218G>A (p.Arg73His) |
single nucleotide variant |
Costello syndrome [RCV003044909] |
Chr11:533838 [GRCh38] Chr11:533838 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.450+20C>T |
single nucleotide variant |
Costello syndrome [RCV002579954] |
Chr11:533433 [GRCh38] Chr11:533433 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.451-20T>G |
single nucleotide variant |
Costello syndrome [RCV002898970] |
Chr11:532775 [GRCh38] Chr11:532775 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291G>A (p.Arg97=) |
single nucleotide variant |
Costello syndrome [RCV002877412] |
Chr11:533612 [GRCh38] Chr11:533612 [GRCh37] Chr11:11p15.5 |
likely benign|uncertain significance |
NM_005343.4(HRAS):c.247G>A (p.Ala83Thr) |
single nucleotide variant |
Costello syndrome [RCV003009575] |
Chr11:533809 [GRCh38] Chr11:533809 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.406A>G (p.Ser136Gly) |
single nucleotide variant |
Costello syndrome [RCV002833358] |
Chr11:533497 [GRCh38] Chr11:533497 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.479T>G (p.Val160Gly) |
single nucleotide variant |
Costello syndrome [RCV002646576] |
Chr11:532727 [GRCh38] Chr11:532727 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.486G>C (p.Glu162Asp) |
single nucleotide variant |
Costello syndrome [RCV003030820] |
Chr11:532720 [GRCh38] Chr11:532720 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.319G>A (p.Asp107Asn) |
single nucleotide variant |
Costello syndrome [RCV003027950] |
Chr11:533584 [GRCh38] Chr11:533584 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.330C>A (p.Pro110=) |
single nucleotide variant |
Costello syndrome [RCV003065809] |
Chr11:533573 [GRCh38] Chr11:533573 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.215T>C (p.Met72Thr) |
single nucleotide variant |
Costello syndrome [RCV002939038] |
Chr11:533841 [GRCh38] Chr11:533841 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.111+12G>A |
single nucleotide variant |
Costello syndrome [RCV003048383] |
Chr11:534200 [GRCh38] Chr11:534200 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.529_530del (p.Ser177fs) |
microsatellite |
Costello syndrome [RCV003087592] |
Chr11:532676..532677 [GRCh38] Chr11:532676..532677 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.323A>G (p.Asp108Gly) |
single nucleotide variant |
Costello syndrome [RCV002588959] |
Chr11:533580 [GRCh38] Chr11:533580 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.243G>A (p.Val81=) |
single nucleotide variant |
Costello syndrome [RCV002586862] |
Chr11:533813 [GRCh38] Chr11:533813 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.351G>A (p.Lys117=) |
single nucleotide variant |
Costello syndrome [RCV003051932] |
Chr11:533552 [GRCh38] Chr11:533552 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.112-11T>A |
single nucleotide variant |
Costello syndrome [RCV003072336] |
Chr11:533955 [GRCh38] Chr11:533955 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.112-14C>G |
single nucleotide variant |
Costello syndrome [RCV003070110] |
Chr11:533958 [GRCh38] Chr11:533958 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.294G>A (p.Glu98=) |
single nucleotide variant |
Costello syndrome [RCV002612633] |
Chr11:533609 [GRCh38] Chr11:533609 [GRCh37] Chr11:11p15.5 |
uncertain significance |
GRCh37/hg19 11p15.5(chr11:268586-748873) |
copy number loss |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion [RCV003319587] |
Chr11:268586..748873 [GRCh37] Chr11:11p15.5 |
pathogenic |
NC_000011.10:g.530428_530455del |
deletion |
not provided [RCV002292784] |
Chr11:530420..530447 [GRCh38] Chr11:530420..530447 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NC_000011.10:g.531072G>A |
single nucleotide variant |
not provided [RCV003222685] |
Chr11:531072 [GRCh38] Chr11:531072 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.530466G>C |
single nucleotide variant |
not provided [RCV002262296] |
Chr11:530466 [GRCh38] Chr11:530466 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NC_000011.10:g.531070G>A |
single nucleotide variant |
not provided [RCV002262298] |
Chr11:531070 [GRCh38] Chr11:531070 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NC_000011.10:g.531174C>G |
single nucleotide variant |
not provided [RCV003312182] |
Chr11:531174 [GRCh38] Chr11:531174 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.528639C>T |
single nucleotide variant |
not provided [RCV003394662] |
Chr11:528639 [GRCh38] Chr11:528639 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.530895G>C |
single nucleotide variant |
not provided [RCV003394669] |
Chr11:530895 [GRCh38] Chr11:530895 [GRCh37] Chr11:11p15.5 |
benign |
NC_000011.10:g.530447_530474del |
deletion |
not provided [RCV003394664] |
Chr11:530439..530466 [GRCh38] Chr11:530439..530466 [GRCh37] Chr11:11p15.5 |
benign |
NC_000011.10:g.530894G>C |
single nucleotide variant |
not provided [RCV003394668] |
Chr11:530894 [GRCh38] Chr11:530894 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+181G>A |
single nucleotide variant |
Epidermolytic nevus [RCV003458963] |
Chr11:533272 [GRCh38] Chr11:533272 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NC_000011.10:g.530447A>G |
single nucleotide variant |
not provided [RCV002211166] |
Chr11:530447 [GRCh38] Chr11:530447 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NC_000011.10:g.530428_530483del |
deletion |
not provided [RCV003312181] |
Chr11:530419..530474 [GRCh38] Chr11:530419..530474 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.530614G>C |
single nucleotide variant |
not provided [RCV003389985] |
Chr11:530614 [GRCh38] Chr11:530614 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.528669C>T |
single nucleotide variant |
not provided [RCV003394663] |
Chr11:528669 [GRCh38] Chr11:528669 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.530587G>C |
single nucleotide variant |
not provided [RCV003394667] |
Chr11:530587 [GRCh38] Chr11:530587 [GRCh37] Chr11:11p15.5 |
benign |
NC_000011.10:g.531063G>C |
single nucleotide variant |
not provided [RCV003394671] |
Chr11:531063 [GRCh38] Chr11:531063 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.529719C>G |
single nucleotide variant |
not provided [RCV003389984] |
Chr11:529719 [GRCh38] Chr11:529719 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.531047C>T |
single nucleotide variant |
not provided [RCV003394670] |
Chr11:531047 [GRCh38] Chr11:531047 [GRCh37] Chr11:11p15.5 |
benign |
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 |
copy number gain |
not provided [RCV003484828] |
Chr11:192764..3362853 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_005343.4(HRAS):c.179_205dup (p.Arg68_Asp69insGlyGlnGluGluTyrSerAlaMetArg) |
duplication |
HRAS-related condition [RCV003400256] |
Chr11:533850..533851 [GRCh38] Chr11:533850..533851 [GRCh37] Chr11:11p15.5 |
likely pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 |
copy number gain |
Russell-Silver syndrome [RCV003444025] |
Chr11:230615..8821443 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NC_000011.10:g.531065G>A |
single nucleotide variant |
not provided [RCV003389986] |
Chr11:531065 [GRCh38] Chr11:531065 [GRCh37] Chr11:11p15.5 |
benign |
NC_000011.10:g.530444G>A |
single nucleotide variant |
not provided [RCV003394665] |
Chr11:530444 [GRCh38] Chr11:530444 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.530522G>C |
single nucleotide variant |
not provided [RCV003394666] |
Chr11:530522 [GRCh38] Chr11:530522 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.483T>G (p.Arg161=) |
single nucleotide variant |
not provided [RCV003394672] |
Chr11:532723 [GRCh38] Chr11:532723 [GRCh37] Chr11:11p15.5 |
likely benign |
NC_000011.10:g.530475G>A |
single nucleotide variant |
not provided [RCV002262297] |
Chr11:530475 [GRCh38] Chr11:530475 [GRCh37] Chr11:11p15.5 |
benign|likely benign |
NM_005343.4(HRAS):c.460G>T (p.Asp154Tyr) |
single nucleotide variant |
Costello syndrome [RCV003627913] |
Chr11:532746 [GRCh38] Chr11:532746 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.291-5C>G |
single nucleotide variant |
Costello syndrome [RCV003515141] |
Chr11:533617 [GRCh38] Chr11:533617 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.105T>C (p.Thr35=) |
single nucleotide variant |
Costello syndrome [RCV003628152] |
Chr11:534218 [GRCh38] Chr11:534218 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.342G>A (p.Val114=) |
single nucleotide variant |
Costello syndrome [RCV003514117] |
Chr11:533561 [GRCh38] Chr11:533561 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.221C>G (p.Thr74Ser) |
single nucleotide variant |
Costello syndrome [RCV003626595] |
Chr11:533835 [GRCh38] Chr11:533835 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.290+16C>T |
single nucleotide variant |
Costello syndrome [RCV003515370] |
Chr11:533750 [GRCh38] Chr11:533750 [GRCh37] Chr11:11p15.5 |
likely benign |
GRCh38/hg38 11p15.5(chr11:313988-723647) |
copy number loss |
Autism spectrum disorder [RCV003883401] |
Chr11:313988..723647 [GRCh38] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.45C>G (p.Gly15=) |
single nucleotide variant |
Costello syndrome [RCV003514704] |
Chr11:534278 [GRCh38] Chr11:534278 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.59C>T (p.Thr20Ile) |
single nucleotide variant |
Costello syndrome [RCV003514667] |
Chr11:534264 [GRCh38] Chr11:534264 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.146A>G (p.Glu49Gly) |
single nucleotide variant |
Costello syndrome [RCV003515072] |
Chr11:533910 [GRCh38] Chr11:533910 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.373del (p.Val125fs) |
deletion |
Costello syndrome [RCV003627893] |
Chr11:533530 [GRCh38] Chr11:533530 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.424_426del (p.Ile142del) |
deletion |
Costello syndrome [RCV003516394] |
Chr11:533477..533479 [GRCh38] Chr11:533477..533479 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.158T>G (p.Leu53Trp) |
single nucleotide variant |
Costello syndrome [RCV003515956] |
Chr11:533898 [GRCh38] Chr11:533898 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.291-11C>T |
single nucleotide variant |
Costello syndrome [RCV003882561] |
Chr11:533623 [GRCh38] Chr11:533623 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.217C>T (p.Arg73Cys) |
single nucleotide variant |
Costello syndrome [RCV003830515] |
Chr11:533839 [GRCh38] Chr11:533839 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.374T>G (p.Val125Gly) |
single nucleotide variant |
Costello syndrome [RCV003627154] |
Chr11:533529 [GRCh38] Chr11:533529 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.493C>A (p.Gln165Lys) |
single nucleotide variant |
Costello syndrome [RCV003628010] |
Chr11:532713 [GRCh38] Chr11:532713 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.451-16A>G |
single nucleotide variant |
Costello syndrome [RCV003515472] |
Chr11:532771 [GRCh38] Chr11:532771 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.412G>C (p.Gly138Arg) |
single nucleotide variant |
Costello syndrome [RCV003627248] |
Chr11:533491 [GRCh38] Chr11:533491 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.305G>A (p.Arg102Gln) |
single nucleotide variant |
Costello syndrome [RCV003628118] |
Chr11:533598 [GRCh38] Chr11:533598 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.91G>C (p.Glu31Gln) |
single nucleotide variant |
Costello syndrome [RCV003628135] |
Chr11:534232 [GRCh38] Chr11:534232 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.522T>C (p.Pro174=) |
single nucleotide variant |
Costello syndrome [RCV003830662] |
Chr11:532684 [GRCh38] Chr11:532684 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.290+15G>C |
single nucleotide variant |
Costello syndrome [RCV003514925] |
Chr11:533751 [GRCh38] Chr11:533751 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.131T>C (p.Val44Ala) |
single nucleotide variant |
Costello syndrome [RCV003514885] |
Chr11:533925 [GRCh38] Chr11:533925 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.532G>A (p.Gly178Ser) |
single nucleotide variant |
Costello syndrome [RCV003515621] |
Chr11:532674 [GRCh38] Chr11:532674 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.158T>A (p.Leu53Ter) |
single nucleotide variant |
Costello syndrome [RCV003628322] |
Chr11:533898 [GRCh38] Chr11:533898 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.201G>A (p.Met67Ile) |
single nucleotide variant |
Costello syndrome [RCV003628373] |
Chr11:533855 [GRCh38] Chr11:533855 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.74A>G (p.Gln25Arg) |
single nucleotide variant |
Costello syndrome [RCV003828868] |
Chr11:534249 [GRCh38] Chr11:534249 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.290+3G>A |
single nucleotide variant |
Costello syndrome [RCV003516258] |
Chr11:533763 [GRCh38] Chr11:533763 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.538G>C (p.Gly180Arg) |
single nucleotide variant |
Costello syndrome [RCV003515374] |
Chr11:532668 [GRCh38] Chr11:532668 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.122G>A (p.Arg41Gln) |
single nucleotide variant |
Costello syndrome [RCV003515838] |
Chr11:533934 [GRCh38] Chr11:533934 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.129G>C (p.Gln43His) |
single nucleotide variant |
Costello syndrome [RCV003515930] |
Chr11:533927 [GRCh38] Chr11:533927 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.440_450+16del |
deletion |
Costello syndrome [RCV003628571] |
Chr11:533437..533463 [GRCh38] Chr11:533437..533463 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.407G>C (p.Ser136Thr) |
single nucleotide variant |
Costello syndrome [RCV003515519] |
Chr11:533496 [GRCh38] Chr11:533496 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.516C>A (p.Asn172Lys) |
single nucleotide variant |
Costello syndrome [RCV003627985] |
Chr11:532690 [GRCh38] Chr11:532690 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.511C>G (p.Leu171Val) |
single nucleotide variant |
Costello syndrome [RCV003514672] |
Chr11:532695 [GRCh38] Chr11:532695 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.450+19C>T |
single nucleotide variant |
Costello syndrome [RCV003515202] |
Chr11:533434 [GRCh38] Chr11:533434 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.290+7C>G |
single nucleotide variant |
Costello syndrome [RCV003628317] |
Chr11:533759 [GRCh38] Chr11:533759 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.450+4A>C |
single nucleotide variant |
Costello syndrome [RCV003825484] |
Chr11:533449 [GRCh38] Chr11:533449 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.474G>C (p.Thr158=) |
single nucleotide variant |
Costello syndrome [RCV003626581] |
Chr11:532732 [GRCh38] Chr11:532732 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.306G>A (p.Arg102=) |
single nucleotide variant |
Costello syndrome [RCV003628098] |
Chr11:533597 [GRCh38] Chr11:533597 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.135C>T (p.Val45=) |
single nucleotide variant |
Costello syndrome [RCV003626915] |
Chr11:533921 [GRCh38] Chr11:533921 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.429G>A (p.Glu143=) |
single nucleotide variant |
Costello syndrome [RCV003627206] |
Chr11:533474 [GRCh38] Chr11:533474 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.189G>A (p.Glu63=) |
single nucleotide variant |
Costello syndrome [RCV003514223] |
Chr11:533867 [GRCh38] Chr11:533867 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.67C>T (p.Leu23=) |
single nucleotide variant |
Costello syndrome [RCV003627545] |
Chr11:534256 [GRCh38] Chr11:534256 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.443C>G (p.Thr148Ser) |
single nucleotide variant |
Costello syndrome [RCV003627211] |
Chr11:533460 [GRCh38] Chr11:533460 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.290+15G>A |
single nucleotide variant |
Costello syndrome [RCV003514181] |
Chr11:533751 [GRCh38] Chr11:533751 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.197C>T (p.Ala66Val) |
single nucleotide variant |
Costello syndrome [RCV003628532] |
Chr11:533859 [GRCh38] Chr11:533859 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.395A>G (p.Asp132Gly) |
single nucleotide variant |
Costello syndrome [RCV003628575] |
Chr11:533508 [GRCh38] Chr11:533508 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.111+15G>C |
single nucleotide variant |
Costello syndrome [RCV003627839] |
Chr11:534197 [GRCh38] Chr11:534197 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.290+19G>T |
single nucleotide variant |
Costello syndrome [RCV003627867] |
Chr11:533747 [GRCh38] Chr11:533747 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.295C>T (p.Gln99Ter) |
single nucleotide variant |
Costello syndrome [RCV003626439] |
Chr11:533608 [GRCh38] Chr11:533608 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.457G>T (p.Glu153Ter) |
single nucleotide variant |
Costello syndrome [RCV003627822] |
Chr11:532749 [GRCh38] Chr11:532749 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.331A>T (p.Met111Leu) |
single nucleotide variant |
Costello syndrome [RCV003816990] |
Chr11:533572 [GRCh38] Chr11:533572 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.445C>A (p.Arg149=) |
single nucleotide variant |
Costello syndrome [RCV003839596] |
Chr11:533458 [GRCh38] Chr11:533458 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.473C>A (p.Thr158Lys) |
single nucleotide variant |
Costello syndrome [RCV003871128] |
Chr11:532733 [GRCh38] Chr11:532733 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.473_475delinsG (p.Thr158fs) |
indel |
Costello syndrome [RCV003867366] |
Chr11:532731..532733 [GRCh38] Chr11:532731..532733 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.451-14C>A |
single nucleotide variant |
Costello syndrome [RCV003869724] |
Chr11:532769 [GRCh38] Chr11:532769 [GRCh37] Chr11:11p15.5 |
likely benign |
GRCh37/hg19 11p15.5(chr11:372929-762338)x3 |
copy number gain |
not specified [RCV003986922] |
Chr11:372929..762338 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.347A>G (p.Asn116Ser) |
single nucleotide variant |
Costello syndrome [RCV003820084] |
Chr11:533556 [GRCh38] Chr11:533556 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.290+11T>C |
single nucleotide variant |
Costello syndrome [RCV003863678] |
Chr11:533755 [GRCh38] Chr11:533755 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.343G>A (p.Gly115Arg) |
single nucleotide variant |
Costello syndrome [RCV003840684] |
Chr11:533560 [GRCh38] Chr11:533560 [GRCh37] Chr11:11p15.5 |
uncertain significance |
NM_005343.4(HRAS):c.450+170T>G |
single nucleotide variant |
HRAS-related condition [RCV003951848] |
Chr11:533283 [GRCh38] Chr11:533283 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_176795.5(HRAS):c.457C>T (p.Arg153Cys) |
single nucleotide variant |
HRAS-related condition [RCV003926889] |
Chr11:533352 [GRCh38] Chr11:533352 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.306G>C (p.Arg102=) |
single nucleotide variant |
HRAS-related condition [RCV003964692] |
Chr11:533597 [GRCh38] Chr11:533597 [GRCh37] Chr11:11p15.5 |
likely benign |
NM_005343.4(HRAS):c.434C>T (p.Ser145Leu) |
single nucleotide variant |
HRAS-related condition [RCV003896450] |
Chr11:533469 [GRCh38] Chr11:533469 [GRCh37] Chr11:11p15.5 |
uncertain significance |