Total 53 pathogenic variants reported for Costello syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) SNV
Germline/somatic		 Chr11:534288 Pathogenic Malignant tumor of urinary bladder
Costello syndrome
Myopathy, congenital, with excess of muscle spindles
Epidermal nevus
Condition: not provided
HRAS-related disorder
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122545 rs_104894230

8 SubmittersRCV000013431RCV000013432RCV000013433RCV000032850RCV000157912RCV003415692RCV004018622
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) SNV
Germline/somatic		 Chr11:534289 Pathogenic Costello syndrome
Myopathy, congenital, with excess of muscle spindles
Nevus sebaceous
Epidermal nevus with urothelial cancer, somatic
Condition: not provided
RASopathy
Wooly hair nevus
Lip and oral cavity carcinoma
Rhabdomyosarcoma
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
See cases
HRAS-related disorder
Noonan syndrome 1
Epidermal nevus
6 conditions		 Reviewed By Expert Panel
 CA122549 rs_104894229

41 SubmittersRCV000013435RCV000013436RCV000029209RCV000022796RCV000081295RCV000149828RCV000487471RCV001255689RCV001257537RCV001813185RCV002453256RCV003156059RCV003398496RCV003450635RCV003450636RCV004795404
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) SNV
Germline		 Chr11:534288 Pathogenic Costello syndrome
Condition: not provided
Inborn genetic diseases
6 conditions
Noonan syndrome and Noonan-related syndrome
Rhabdomyosarcoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256486 rs_104894230

10 SubmittersRCV000013437RCV000207503RCV000623953RCV000762848RCV001813186RCV001257536
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) SNV
Germline		 Chr11:534285 Pathogenic/Likely pathogenic Costello syndrome
Condition: not provided
RASopathy
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
6 conditions
HRAS-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256488 rs_104894226

15 SubmittersRCV000013438RCV000157913RCV000781469RCV001376018RCV001813187RCV002476960RCV003390677
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) SNV
Germline		 Chr11:533553 Pathogenic Costello syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA256490 rs_104894227

5 SubmittersRCV000013439RCV000353386
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) SNV
Germline		 Chr11:534286 Pathogenic Costello syndrome
RASopathy
Condition: not provided
6 conditions
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Linear nevus sebaceous syndrome
HRAS-related disorder		 Reviewed By Expert Panel
 CA295247 rs_104894228

17 SubmittersRCV000013440RCV000149831RCV000207504RCV000762847RCV000678903RCV001813188RCV004767004RCV003421918
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) SNV
Germline		 Chr11:533467 Pathogenic Costello syndrome No Assertion Criteria Provided
 CA256492 rs_104894231

1 SubmittersRCV000013441
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) SNV
Germline		 Chr11:533869 Pathogenic Myopathy, congenital, with excess of muscle spindles
Condition: not provided
Costello syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122551 rs_121917756

3 SubmittersRCV000013442RCV000485616RCV002272015
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) SNV
Germline		 Chr11:534259 Likely pathogenic Myopathy, congenital, with excess of muscle spindles
Condition: not provided
Costello syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122553 rs_121917757

5 SubmittersRCV000013443RCV000157915RCV000143898
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) SNV
Germline		 Chr11:533883 Pathogenic Costello syndrome
Condition: not provided
HRAS-related disorder		 Reviewed By Expert Panel
 CA341206 rs_121917758

9 SubmittersRCV000013444RCV003221783RCV004724738
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) SNV
Germline		 Chr11:533466 Likely pathogenic Costello syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA256494 rs_121917759

3 SubmittersRCV000013445
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) SNV
Germline/somatic		 Chr11:534288 Pathogenic/Likely pathogenic Costello syndrome, severe
Nevus sebaceous
Costello syndrome
RASopathy
Condition: not provided
Lip and oral cavity carcinoma
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
HRAS-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122555 rs_104894230

14 SubmittersRCV000013446RCV000029210RCV000038460RCV000149830RCV000212496RCV001255681RCV001375956RCV001813189RCV004739303
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) SNV
Germline/somatic		 Chr11:534289 Pathogenic Costello syndrome
Nevus sebaceous
Epidermal nevus
RASopathy
Condition: not provided
6 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129948 rs_104894229

14 SubmittersRCV000013447RCV000029211RCV000032851RCV000149829RCV000212495RCV000762849
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) SNV
Germline/somatic		 Chr11:534286 Pathogenic/Likely pathogenic Linear nevus sebaceous syndrome
Nevus sebaceous
Epidermal nevus
NEVUS SPILUS, SOMATIC
SPITZ NEVUS, SOMATIC
Costello syndrome
Lip and oral cavity carcinoma
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
cutaneous-skeletal hypophosphatemia syndrome
Epidermolytic nevus
HRAS-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129950 rs_104894228

10 SubmittersRCV000029213RCV000029212RCV000032852RCV000173005RCV000173006RCV001781319RCV001255682RCV001376004RCV001813211RCV001849283RCV003458340RCV004739310
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) SNV
Germline		 Chr11:533881 Likely pathogenic Costello syndrome
Non-small cell lung carcinoma
RASopathy		 Reviewed By Expert Panel
 CA176353 rs_727503093

4 SubmittersRCV000150835RCV000150834RCV004760350
NM_005343.4(HRAS):c.179G>A (p.Gly60Asp) SNV
Germline		 Chr11:533877 Pathogenic Condition: not provided
Costello syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA296057 rs_730880460

3 SubmittersRCV000157917RCV001387769
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn) SNV
Germline		 Chr11:532746 Conflicting classifications of pathogenicity Condition: not provided
Costello syndrome		 Criteria Provided
Conflicting Classifications
 CA5779226 rs_745497215

3 SubmittersRCV000434487RCV000637302
NM_005343.4(HRAS):c.45C>T (p.Gly15=) SNV
Germline		 Chr11:534278 Conflicting classifications of pathogenicity not specified
Condition: not provided
Costello syndrome
Hereditary cancer-predisposing syndrome
HRAS-related disorder		 Criteria Provided
Conflicting Classifications
 CA183700 rs_727504614

5 SubmittersRCV000155869RCV000585962RCV000818776RCV002257458RCV003952786
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) SNV
Germline		 Chr11:533485 Conflicting classifications of pathogenicity not specified
Costello syndrome		 Criteria Provided
Conflicting Classifications
 CA180880 rs_144001095

2 SubmittersRCV000154499RCV000700279
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) SNV
Germline/somatic		 Chr11:534285 Pathogenic/Likely pathogenic Condition: not provided
Costello syndrome
Lip and oral cavity carcinoma
KA-like vemurafenib-induced squamous lesions
Linear nevus sebaceous syndrome
Large congenital melanocytic nevus		 Criteria Provided
Multiple Submitters
No Conflicts
 CA296055 rs_104894226

9 SubmittersRCV000157914RCV000590121RCV001255688RCV001849323RCV004767097RCV004562310
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) SNV
Germline		 Chr11:532660 Conflicting classifications of pathogenicity Costello syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA5779209 rs_748639813

3 SubmittersRCV000229010RCV003993902
NM_005343.4(HRAS):c.171T>C (p.Asp57=) SNV
Germline		 Chr11:533885 Conflicting classifications of pathogenicity not specified
Costello syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA5779392 rs_776105083

3 SubmittersRCV000246927RCV000871401RCV002258867
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) SNV
Germline		 Chr11:534289 Likely pathogenic Costello syndrome Criteria Provided
Single Submitter
 CA16602439 rs_104894229

1 SubmittersRCV002230756
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) SNV
Germline/somatic		 Chr11:534286 Likely pathogenic Vascular Tumors Including Pyogenic Granuloma
Costello syndrome		 Criteria Provided
Single Submitter
 CA16602769 rs_104894228

2 SubmittersRCV000662270RCV002524694
NM_005343.4(HRAS):c.451-5C>G SNV
Germline		 Chr11:532760 Conflicting classifications of pathogenicity Condition: not provided
Costello syndrome		 Criteria Provided
Conflicting Classifications
 CA5779227 rs_370181298

2 SubmittersRCV000681281RCV001078758
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) SNV
Germline		 Chr11:533601 Conflicting classifications of pathogenicity Condition: not provided
Costello syndrome		 Criteria Provided
Conflicting Classifications
 CA378923959 rs_1131691997

2 SubmittersRCV000494039RCV000705122
NM_005343.4(HRAS):c.451-5C>T SNV
Germline		 Chr11:532760 Conflicting classifications of pathogenicity Costello syndrome
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5779228 rs_370181298

3 SubmittersRCV000637310RCV001698422RCV004024985
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) SNV
Germline		 Chr11:533506 Conflicting classifications of pathogenicity Costello syndrome
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5779321 rs_776888712

2 SubmittersRCV000637303RCV002358789
NM_005343.4(HRAS):c.137T>C (p.Ile46Thr) SNV
Germline		 Chr11:533919 Conflicting classifications of pathogenicity Condition: not provided
Costello syndrome		 Criteria Provided
Conflicting Classifications
 rs_1564789700

2 SubmittersRCV000681108RCV001861890
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) SNV
Germline		 Chr11:533515 Conflicting classifications of pathogenicity Costello syndrome Criteria Provided
Conflicting Classifications
 rs_1564788957

2 SubmittersRCV000707594
NM_005343.4(HRAS):c.291-9A>G SNV
Germline		 Chr11:533621 Conflicting classifications of pathogenicity not specified
Costello syndrome		 Criteria Provided
Conflicting Classifications
 rs_1564789180

2 SubmittersRCV000781471RCV000864531
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser) SNV
Germline		 Chr11:533878 Likely pathogenic Costello syndrome Criteria Provided
Single Submitter
 rs_1589792804

1 SubmittersRCV000818197
NM_005343.4(HRAS):c.102C>G (p.Pro34=) SNV
Germline		 Chr11:534221 Conflicting classifications of pathogenicity Condition: not provided
Costello syndrome		 Criteria Provided
Conflicting Classifications
 rs_149199691

3 SubmittersRCV000868366RCV001493838
NM_005343.4(HRAS):c.112-4G>A SNV
Germline		 Chr11:533948 Conflicting classifications of pathogenicity Costello syndrome
not specified		 Criteria Provided
Conflicting Classifications
 rs_1589792986

2 SubmittersRCV001416693RCV001797803
NM_005343.4(HRAS):c.450+17C>T SNV
Germline		 Chr11:533436 Conflicting classifications of pathogenicity not specified
Costello syndrome		 Criteria Provided
Conflicting Classifications
 rs_367869009

2 SubmittersRCV001174936RCV002559679
NM_005343.4(HRAS):c.450+20C>A SNV
Germline		 Chr11:533433 Conflicting classifications of pathogenicity not specified
Costello syndrome		 Criteria Provided
Conflicting Classifications
 rs_201524241

2 SubmittersRCV001194133RCV002069249
NM_005343.4(HRAS):c.290+10G>A SNV
Germline		 Chr11:533756 Conflicting classifications of pathogenicity not specified
Costello syndrome		 Criteria Provided
Conflicting Classifications
 rs_769212136

2 SubmittersRCV001194131RCV002559226
NM_005343.4(HRAS):c.112-13T>A SNV
Germline		 Chr11:533957 Conflicting classifications of pathogenicity not specified
Condition: not provided
Costello syndrome		 Criteria Provided
Conflicting Classifications
 rs_766582484

3 SubmittersRCV001269170RCV001683760RCV002069390
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg) SNV
Germline		 Chr11:533517 Conflicting classifications of pathogenicity Costello syndrome Criteria Provided
Conflicting Classifications
 rs_1851242529

2 SubmittersRCV001329395
NM_005343.4(HRAS):c.361G>A (p.Ala121Thr) SNV
Germline		 Chr11:533542 Conflicting classifications of pathogenicity Costello syndrome
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_1851245429

2 SubmittersRCV001338691RCV003153999
NM_005343.4(HRAS):c.261C>T (p.Thr87=) SNV
Germline		 Chr11:533795 Conflicting classifications of pathogenicity Costello syndrome
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1851272766

3 SubmittersRCV001415096RCV002456666RCV004801008
NM_005343.4(HRAS):c.466T>C (p.Phe156Leu) SNV
Germline		 Chr11:532740 Pathogenic Costello syndrome Criteria Provided
Single Submitter
 rs_2133982557

1 SubmittersRCV001789705
NM_005343.4(HRAS):c.202C>T (p.Arg68Trp) SNV
Germline		 Chr11:533854 Conflicting classifications of pathogenicity Costello syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1370690781

2 SubmittersRCV001906898RCV003235615
NM_005343.4(HRAS):c.21G>C (p.Val7=) SNV
Germline		 Chr11:534302 Conflicting classifications of pathogenicity Cardiovascular phenotype
Condition: not provided
Costello syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002425716RCV002466758RCV003098707