A total 127 pathogenic variants reported in gene fibroblast growth factor receptor 3 (FGFR3)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) SNV
Germline/somatic
Chr4:1804392 Pathogenic Achondroplasia
Epidermal nevus
Condition: not provided
14 conditions
Inborn genetic diseases
Hypochondroplasia
Connective tissue disorder
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
FGFR3-related disorder
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Muenke syndrome
Intellectual disability
Crouzon syndrome-acanthosis nigricans syndrome
Thanatophoric dysplasia type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA129944 rs_28931614

60 SubmittersRCV000017724RCV000029207RCV000255750RCV000763121RCV001266979RCV001807732RCV002276551RCV003227605RCV004545731RCV004783725RCV004798732RCV005624694RCV006451899RCV006454634

NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) SNV
Germline
Chr4:1804392 Pathogenic Achondroplasia
Condition: not provided
Hypochondroplasia
FGFR3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA280218 rs_28931614

13 SubmittersRCV000017725RCV000727147RCV000987394RCV004532375

NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) SNV
Germline
Chr4:1804426 Pathogenic Crouzon syndrome-acanthosis nigricans syndrome
Craniosynostosis syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA249860 rs_28931615

16 SubmittersRCV000017726RCV000194803RCV000414319RCV000623005

NM_000142.5(FGFR3):c.1123G>T (p.Gly375Cys) SNV
Germline
Chr4:1804377 Pathogenic Achondroplasia
Condition: not provided
Criteria Provided
Single Submitter
CA280219 rs_75790268

2 SubmittersRCV000017727RCV002228031

NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) SNV
Germline/somatic
Chr4:1806162 Pathogenic Spermatocytic seminoma
Multiple myeloma
Thanatophoric dysplasia, type 2
Condition: not provided
Thanatophoric dysplasia
See cases
Thanatophoric dysplasia type 1
FGFR3-related disorder
14 conditions
Criteria Provided
Multiple Submitters
No Conflicts
CA126376 rs_78311289

21 SubmittersRCV000017730RCV000017729RCV000017728RCV000255799RCV003317039RCV003155029RCV003234912RCV004532376RCV005031441

NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV
Germline/somatic
Chr4:1801837 Pathogenic Thanatophoric dysplasia type 1
Skeletal dysplasia with acanthosis nigricans
Epidermal nevus
Seborrheic keratosis
Multiple myeloma
Condition: not provided
13 conditions
14 conditions
Cervical cancer
Hamartoma
Achondroplasia
Connective tissue disorder
FGFR3-related disorder
FGFR3-related chondrodysplasia
Thanatophoric dysplasia, type 2
See cases
Malignant tumor of urinary bladder
14 conditions
Muenke syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA126378 rs_121913482

47 SubmittersRCV000017731RCV000017733RCV000017734RCV000017735RCV000017732RCV000327823RCV000414822RCV000763118RCV001196297RCV001526641RCV001804739RCV002276552RCV002243648RCV001849270RCV003388567RCV003155030RCV003332082RCV005025063RCV004798733

NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) SNV
Germline
Chr4:1804365 Pathogenic Thanatophoric dysplasia type 1
not specified
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA341399 rs_121913484

7 SubmittersRCV000017736RCV000757295RCV001528646

NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) SNV
Germline
Chr4:1807260 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA341401 rs_121913101

6 SubmittersRCV000017737RCV000493112RCV003155031

NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) SNV
Germline
Chr4:1807260 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
14 conditions
Criteria Provided
Multiple Submitters
No Conflicts
CA341404 rs_121913101

4 SubmittersRCV000017738RCV000520562RCV002504801

NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys) SNV
Germline
Chr4:1807262 Pathogenic Thanatophoric dysplasia type 1
See cases
FGFR3-related disorder
Criteria Provided
Single Submitter
CA341407 rs_121913103

4 SubmittersRCV000017739RCV003155032RCV004528117

NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys) SNV
Germline
Chr4:1805644 Pathogenic Hypochondroplasia
Condition: not provided
Achondroplasia
Neurodevelopmental delay
FGFR3-related disorder
FGFR3-related chondrodysplasia
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA341410 rs_28933068

36 SubmittersRCV000017740RCV000255928RCV000353403RCV002273932RCV004541008RCV004786271RCV006342076

NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV
Germline
Chr4:1805644 Pathogenic/Likely pathogenic Hypochondroplasia
Short stature
Condition: not provided
Inborn genetic diseases
14 conditions
Achondroplasia
Larsen syndrome
Connective tissue disorder
FGFR3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA341412 rs_28933068

31 SubmittersRCV000017741RCV000415460RCV000255372RCV000622950RCV000763122RCV001332222RCV001804740RCV002276553RCV004737156

NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) SNV
Germline/somatic
Chr4:1801841 Pathogenic Seborrheic keratosis
Thanatophoric dysplasia type 1
Cervical cancer
Malignant tumor of urinary bladder
Condition: not provided
Squamous cell lung carcinoma
14 conditions
Connective tissue disorder
See cases
Malignant neoplastic disease
FGFR3-related disorder
Achondroplasia
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Neoplasm
Criteria Provided
Multiple Submitters
No Conflicts
CA126380 rs_121913483

27 SubmittersRCV000017745RCV000017742RCV000017743RCV000017744RCV000297175RCV000420501RCV000763119RCV002276554RCV003155033RCV003758684RCV004532377RCV003989294RCV004795921RCV006273059

NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV
Germline
Chr4:1801844 Pathogenic/Likely pathogenic Muenke syndrome
Saethre-Chotzen syndrome
not specified
Craniosynostosis syndrome
Condition: not provided
7 conditions
Inborn genetic diseases
Hypochondroplasia
Achondroplasia
Abnormality of the nervous system
FGFR3-related chondrodysplasia
Muenke syndrome
Achondroplasia
Crouzon syndrome-acanthosis nigricans syndrome
Thanatophoric dysplasia type 1
Hypochondroplasia
FGFR3-related disorder
14 conditions
Criteria Provided
Multiple Submitters
No Conflicts
CA159700 rs_4647924

47 SubmittersRCV000017746RCV000017747RCV000121075RCV000193831RCV000436385RCV000626772RCV000622712RCV000987393RCV001334261RCV001813993RCV002273933RCV003483434RCV004554603RCV005003375

NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) SNV
Germline
Chr4:1806163 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
14 conditions
Hypochondroplasia
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA126382 rs_121913105

8 SubmittersRCV000017750RCV001574416RCV002496392RCV002310592RCV004558267

NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) SNV
Germline/somatic
Chr4:1804372 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
See cases
FGFR3-related disorder
Neoplasm
Achondroplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA341413 rs_121913485

23 SubmittersRCV000017751RCV000255235RCV003155034RCV004737157RCV006273060RCV005859467

NM_000142.5(FGFR3):c.1619A>C (p.Asn540Thr) SNV
Germline
Chr4:1805643 Pathogenic/Likely pathogenic Hypochondroplasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA341415 rs_77722678

6 SubmittersRCV000017753RCV001549822

NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) SNV
Germline
Chr4:1805636 Conflicting classifications of pathogenicity Hypochondroplasia
Condition: not provided
Muenke syndrome
Criteria Provided
Conflicting Classifications
CA341417 rs_80053154

9 SubmittersRCV000017754RCV001269544RCV004798734

NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn) SNV
Germline
Chr4:1806164 Pathogenic Hypochondroplasia
Condition: not provided
Criteria Provided
Single Submitter
CA341419 rs_28928868

3 SubmittersRCV000017755RCV003556038

NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) SNV
Germline
Chr4:1806164 Pathogenic/Likely pathogenic Hypochondroplasia
Condition: not provided
14 conditions
Criteria Provided
Multiple Submitters
No Conflicts
CA280221 rs_28928868

7 SubmittersRCV000017756RCV001269938RCV002496393

NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) SNV
Germline/somatic
Chr4:1806162 Pathogenic Hypochondroplasia
Malignant tumor of urinary bladder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA170755 rs_78311289

8 SubmittersRCV000017757RCV000144153RCV002228032

NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser) SNV
Germline
Chr4:1805643 Pathogenic/Likely pathogenic Hypochondroplasia
Inborn genetic diseases
Condition: not provided
Achondroplasia
Neurodevelopmental delay
Criteria Provided
Multiple Submitters
No Conflicts
CA341420 rs_77722678

12 SubmittersRCV000017758RCV000623459RCV001269614RCV002262566RCV002273934

NM_000142.5(FGFR3):c.964G>A (p.Glu322Lys) SNV
Somatic
Chr4:1803725 Pathogenic Carcinoma of colon No Assertion Criteria Provided
CA250656 rs_121913111

1 SubmittersRCV000017761

NM_000142.5(FGFR3):c.1862G>A (p.Arg621His) SNV
Germline
Chr4:1806076 Pathogenic Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Condition: not provided
Criteria Provided
Single Submitter
CA126386 rs_121913113

2 SubmittersRCV000017765RCV002228033

NM_000142.5(FGFR3):c.835A>T (p.Ser279Cys) SNV
Germline
Chr4:1801930 Pathogenic Achondroplasia
Hypochondroplasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA280224 rs_121913114

5 SubmittersRCV000017766RCV000017767RCV000730955

NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys) SNV
Germline
Chr4:1801928 Pathogenic/Likely pathogenic Hypochondroplasia
Short stature
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA341422 rs_121913115

6 SubmittersRCV000017768RCV000415056RCV002513085

NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV
Germline
Chr4:1799395 Pathogenic/Likely pathogenic Hypochondroplasia
9 conditions
Achondroplasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA341425 rs_121913116

5 SubmittersRCV000017769RCV000850610RCV001334259RCV002513086

NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) SNV
Germline/somatic
Chr4:1804362 Pathogenic Thanatophoric dysplasia type 1
Epidermal nevus
Condition: not provided
Thanatophoric dysplasia
14 conditions
Achondroplasia
Neoplasm
Criteria Provided
Multiple Submitters
No Conflicts
CA129946 rs_121913479

12 SubmittersRCV000017770RCV000029208RCV000413645RCV003493410RCV005025064RCV003989295RCV004668734

NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg) SNV
Germline
Chr4:1807260 Likely pathogenic Thanatophoric dysplasia type 1
Thanatophoric dysplasia
Criteria Provided
Single Submitter
CA344893 rs_121913101

2 SubmittersRCV000055763RCV003322750

NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) SNV
Germline
Chr4:1807261 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
14 conditions
Criteria Provided
Multiple Submitters
No Conflicts
CA344894 rs_397515514

4 SubmittersRCV000055764RCV000478851RCV002490635

NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys) SNV
Germline
Chr4:1807262 Pathogenic Thanatophoric dysplasia type 1
Condition: not provided
Criteria Provided
Single Submitter
CA344897 rs_121913103

3 SubmittersRCV000055765RCV002298459

NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp) SNV
Germline
Chr4:1807262 Pathogenic/Likely pathogenic Thanatophoric dysplasia type 1
Condition: not provided
Achondroplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA344898 rs_121913103

7 SubmittersRCV000055766RCV001569868RCV004760363

NM_000142.5(FGFR3):c.791C>T (p.Thr264Met) SNV
Germline
Chr4:1801886 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA345147 rs_587778773

1 SubmittersRCV002237235

NM_000142.5(FGFR3):c.1024G>T (p.Gly342Cys) SNV
Germline
Chr4:1803785 Pathogenic Hypochondroplasia No Assertion Criteria Provided
CA345154 rs_587778775

1 SubmittersRCV000056066

NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV
Germline
Chr4:1806163 Pathogenic Hypochondroplasia
14 conditions
FGFR3-related disorder
Condition: not provided
FGFR3-related chondrodysplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA345185 rs_121913105

10 SubmittersRCV000056100RCV000763123RCV001254893RCV001543530RCV004786329

NM_000142.5(FGFR3):c.970C>G (p.Leu324Val) SNV
Germline
Chr4:1803731 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA345255 rs_587778816

1 SubmittersRCV002237247

NM_000142.5(FGFR3):c.983A>T (p.Asn328Ile) SNV
Germline
Chr4:1803744 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA345257 rs_587778817

2 SubmittersRCV001596949

NM_000142.5(FGFR3):c.1637C>A (p.Thr546Lys) SNV
Germline
Chr4:1805661 Pathogenic Camptodactyly-tall stature-scoliosis-hearing loss syndrome No Assertion Criteria Provided
CA170920 rs_587777857

1 SubmittersRCV000144699

NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) SNV
Germline
Chr4:1805574 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
not specified
Criteria Provided
Conflicting Classifications
CA239727 rs_139707740

6 SubmittersRCV000174221RCV002516620RCV005434672

NM_000142.5(FGFR3):c.252G>A (p.Ser84=) SNV
Germline
Chr4:1799396 Conflicting classifications of pathogenicity Condition: not provided
FGFR3-related disorder
Criteria Provided
Conflicting Classifications
CA243108 rs_367973461

7 SubmittersRCV000176992RCV004537421

NM_000142.5(FGFR3):c.1056G>A (p.Ala352=) SNV
Germline
Chr4:1803817 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA207136 rs_765849160

3 SubmittersRCV000193570RCV006462042

NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) SNV
Germline
Chr4:1806093 Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome
Condition: not provided
Inborn genetic diseases
not specified
Achondroplasia
Criteria Provided
Conflicting Classifications
CA072649 rs_200849753

7 SubmittersRCV000207413RCV000711636RCV002517390RCV004689678RCV005860036

NM_000142.5(FGFR3):c.616-6G>A SNV
Germline
Chr4:1801614 Conflicting classifications of pathogenicity not specified
Condition: not provided
Achondroplasia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2809904 rs_17883400

5 SubmittersRCV000245965RCV000960660RCV001334260RCV006342200

NM_000142.5(FGFR3):c.1223C>T (p.Ser408Phe) SNV
Germline
Chr4:1804477 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2810306 rs_761877926

3 SubmittersRCV000248363RCV002229941RCV005562323

NM_000142.5(FGFR3):c.1830C>G (p.Ser610=) SNV
Germline
Chr4:1805934 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2810588 rs_758618182

3 SubmittersRCV000268387

NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) SNV
Germline
Chr4:1799416 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2809756 rs_144995231

8 SubmittersRCV000318727RCV000725123

NM_000142.5(FGFR3):c.150C>T (p.Val50=) SNV
Germline
Chr4:1799294 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2809727 rs_750641928

3 SubmittersRCV000404567

NM_000142.5(FGFR3):c.1596C>T (p.Ile532=) SNV
Germline
Chr4:1805620 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2810481 rs_528979086

2 SubmittersRCV000312239

NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) SNV
Germline
Chr4:1801519 Conflicting classifications of pathogenicity Condition: not provided
Genu varum
Short stature
Skeletal dysplasia
Craniosynostosis syndrome
14 conditions
Criteria Provided
Conflicting Classifications
CA10605728 rs_886043613

5 SubmittersRCV000313050RCV000626771RCV004796152

NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) SNV
Germline
Chr4:1805439 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2810414 rs_140594137

5 SubmittersRCV000366351

NM_000142.5(FGFR3):c.666C>T (p.Asp222=) SNV
Germline
Chr4:1801670 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2809917 rs_201081464

3 SubmittersRCV000367509RCV000726316

NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln) SNV
Germline
Chr4:1799479 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2809770 rs_758163128

3 SubmittersRCV000394407

NM_000142.5(FGFR3):c.1052C>G (p.Ser351Cys) SNV
Germline
Chr4:1803813 Pathogenic/Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
CA16042557 rs_1057517964

2 SubmittersRCV000413031

NM_000142.5(FGFR3):c.1618A>G (p.Asn540Asp) SNV
Germline
Chr4:1805642 Pathogenic/Likely pathogenic Craniosynostosis, nonspecific
Condition: not provided
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16043904 rs_1057519049

4 SubmittersRCV000415500RCV001574130RCV004719036

NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) SNV
Germline
Chr4:1805761 Conflicting classifications of pathogenicity Condition: not provided
not specified
FGFR3-related disorder
Criteria Provided
Conflicting Classifications
CA2810534 rs_199544087

6 SubmittersRCV000733922RCV001000850RCV004530520

NM_000142.5(FGFR3):c.1205C>G (p.Pro402Arg) SNV
Germline
Chr4:1804459 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2810297 rs_752194597

2 SubmittersRCV001697787

NM_000142.5(FGFR3):c.1645+4G>C SNV
Germline
Chr4:1805673 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA549266754 rs_1367336734

2 SubmittersRCV000504535RCV002230983

NM_000142.5(FGFR3):c.1752G>A (p.Pro584=) SNV
Germline
Chr4:1805856 Conflicting classifications of pathogenicity Condition: not provided
FGFR3-related disorder
Criteria Provided
Conflicting Classifications
CA2810565 rs_139020690

4 SubmittersRCV000513068RCV004541594

NM_000142.5(FGFR3):c.967G>A (p.Val323Ile) SNV
Germline
Chr4:1803728 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
FGFR3-related disorder
Criteria Provided
Conflicting Classifications
CA2810147 rs_753520867

5 SubmittersRCV000517414RCV002525032RCV004535678

NM_000142.5(FGFR3):c.1733C>T (p.Ser578Phe) SNV
Germline
Chr4:1805837 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2810557 rs_989826317

2 SubmittersRCV001576100

NM_000142.5(FGFR3):c.188C>G (p.Pro63Arg) SNV
Germline
Chr4:1799332 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2809737 rs_371729802

2 SubmittersRCV000736059RCV002232281

NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) SNV
Germline
Chr4:1806137 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2810625 rs_148104605

6 SubmittersRCV000593058

NM_000142.5(FGFR3):c.1263A>G (p.Arg421=) SNV
Germline
Chr4:1804517 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA91254121 rs_866774930

2 SubmittersRCV000595373

NM_000142.5(FGFR3):c.1576A>G (p.Met526Val) SNV
Germline
Chr4:1805600 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2810477 rs_766053734

2 SubmittersRCV000613320RCV002528805

NM_000142.5(FGFR3):c.2270C>G (p.Thr757Ser) SNV
Germline
Chr4:1806930 Conflicting classifications of pathogenicity not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2810793 rs_748763892

2 SubmittersRCV000605679RCV005056292

NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV
Germline
Chr4:1806668 Conflicting classifications of pathogenicity Inborn genetic diseases
14 conditions
Condition: not provided
FGFR3-related disorder
Criteria Provided
Conflicting Classifications
CA2810730 rs_139773438

7 SubmittersRCV000623383RCV000765770RCV001591398RCV004737898

NM_000142.5(FGFR3):c.749C>T (p.Pro250Leu) SNV
Germline
Chr4:1801844 Conflicting classifications of pathogenicity Condition: not provided
FGFR3-related disorder
Criteria Provided
Conflicting Classifications
CA355975843 rs_4647924

5 SubmittersRCV002233499RCV004527700

NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn) SNV
Germline
Chr4:1806096 Conflicting classifications of pathogenicity Lacrimoauriculodentodigital syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA355982386 rs_1453271838

3 SubmittersRCV004559335RCV004597852

NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV
Germline
Chr4:1799344 Conflicting classifications of pathogenicity Condition: not provided
14 conditions
FGFR3-related disorder
Criteria Provided
Conflicting Classifications
CA2809746 rs_369232922

4 SubmittersRCV000658073RCV000765768RCV004544915

NM_000142.5(FGFR3):c.1753C>T (p.Pro585Ser) SNV
Germline
Chr4:1805857 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2810566 rs_761163163

3 SubmittersRCV000658045RCV002534267

NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) SNV
Germline
Chr4:1806302 Conflicting classifications of pathogenicity Condition: not provided
14 conditions
Criteria Provided
Conflicting Classifications
CA355982906 rs_1490564667

6 SubmittersRCV001567755RCV004796287

NM_000142.5(FGFR3):c.1181C>T (p.Thr394Met) SNV
Germline/somatic
Chr4:1804435 Conflicting classifications of pathogenicity Condition: not provided
Classic Hodgkin lymphoma
Criteria Provided
Conflicting Classifications
CA2810278 rs_747694886

2 SubmittersRCV002233675RCV002227942

NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) SNV
Germline
Chr4:1807237 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2810865 rs_150452037

4 SubmittersRCV000711638RCV005407914

NM_000142.5(FGFR3):c.1002C>T (p.Ala334=) SNV
Germline
Chr4:1803763 Conflicting classifications of pathogenicity Condition: not provided
FGFR3-related disorder
Criteria Provided
Conflicting Classifications
CA2810159 rs_376787929

3 SubmittersRCV000730490RCV004535836

NM_000142.5(FGFR3):c.2287C>T (p.Leu763=) SNV
Germline
Chr4:1807128 Likely pathogenic Camptodactyly-tall stature-scoliosis-hearing loss syndrome No Assertion Criteria Provided
CA355987409 rs_774517056

1 SubmittersRCV000770821

NM_000142.5(FGFR3):c.1052C>T (p.Ser351Phe) SNV
Germline
Chr4:1803813 Pathogenic Hypochondroplasia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA355978481 rs_1057517964

3 SubmittersRCV001775150RCV002234974

NM_000142.5(FGFR3):c.1513G>A (p.Val505Ile) SNV
Germline
Chr4:1805455 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2810420 rs_144546453

3 SubmittersRCV001726365RCV005408052

NM_000142.5(FGFR3):c.2265G>A (p.Thr755=) SNV
Germline
Chr4:1806925 Conflicting classifications of pathogenicity Condition: not provided
Connective tissue disorder
Criteria Provided
Conflicting Classifications
CA2810791 rs_755791719

2 SubmittersRCV000942921RCV002279651

NM_000142.5(FGFR3):c.1645+8C>T SNV
Germline
Chr4:1805677 Conflicting classifications of pathogenicity Condition: not provided
Connective tissue disorder
Criteria Provided
Conflicting Classifications
CA2810496 rs_372987620

2 SubmittersRCV002235882RCV002279682

NM_000142.5(FGFR3):c.514G>A (p.Val172Ile) SNV
Germline
Chr4:1801435 Conflicting classifications of pathogenicity Hypochondroplasia
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2809862 rs_529408918

6 SubmittersRCV000987392RCV001572765RCV002549680

NM_000142.5(FGFR3):c.667C>T (p.Arg223Cys) SNV
Germline
Chr4:1801671 Pathogenic/Likely pathogenic Condition: not provided
Muenke syndrome
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA355975545 rs_1721198491

6 SubmittersRCV001576124RCV002283520RCV004619484

NM_000142.5(FGFR3):c.1266+25C>T SNV
Germline/somatic
Chr4:1804545 Conflicting classifications of pathogenicity Squamous cell lung carcinoma
Condition: not provided
No Assertion Criteria Provided
CA2810335 rs_200827273

3 SubmittersRCV001250967RCV001724247

NM_000142.5(FGFR3):c.1106C>T (p.Ala369Val) SNV
Germline
Chr4:1804360 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2810263 rs_146970233

2 SubmittersRCV002241214

NM_000142.5(FGFR3):c.188C>T (p.Pro63Leu) SNV
Germline
Chr4:1799332 Conflicting classifications of pathogenicity Muenke syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2809738 rs_371729802

2 SubmittersRCV004799416RCV003558767

NM_000142.5(FGFR3):c.1663G>C (p.Val555Leu) SNV
Germline
Chr4:1805767 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA355981675 rs_1474187970

2 SubmittersRCV001269575

NM_000142.5(FGFR3):c.2420G>C (p.Ter807Ser) SNV
Germline
Chr4:1807261 Pathogenic Condition: not provided
Connective tissue disorder
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
FGFR3-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA355987995 rs_397515514

6 SubmittersRCV001664800RCV002276678RCV004796410RCV004738226

NM_000142.5(FGFR3):c.1954A>G (p.Thr652Ala) SNV
Germline
Chr4:1806168 Pathogenic Thanatophoric dysplasia type 1 Criteria Provided
Single Submitter
CA355982627 rs_1358618786

1 SubmittersRCV001376025

NM_000142.5(FGFR3):c.416A>C (p.Asp139Ala) SNV
Germline
Chr4:1799783 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2809811 rs_376268669

4 SubmittersRCV001509228RCV004801027

NM_000142.5(FGFR3):c.725C>T (p.Thr242Met) SNV
Germline
Chr4:1801729 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2809931 rs_150916178

3 SubmittersRCV001547288RCV004039280

NM_000142.5(FGFR3):c.885C>T (p.Gly295=) SNV
Germline
Chr4:1801980 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2810003 rs_375181682

2 SubmittersRCV001556475

NM_000142.5(FGFR3):c.2207C>A (p.Ser736Tyr) SNV
Germline
Chr4:1806867 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2810775 rs_148631462

4 SubmittersRCV001555359RCV006457407

NM_000142.5(FGFR3):c.2272G>A (p.Asp758Asn) SNV
Germline
Chr4:1806932 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2810795 rs_56266857

3 SubmittersRCV002568444RCV001567522

NM_000142.5(FGFR3):c.985G>A (p.Val329Ile) SNV
Germline
Chr4:1803746 Conflicting classifications of pathogenicity Condition: not provided
FGFR3-related disorder
Criteria Provided
Conflicting Classifications
CA2810154 rs_188723332

6 SubmittersRCV001586827RCV004536217

NM_000142.5(FGFR3):c.1195C>T (p.Arg399Cys) SNV
Germline
Chr4:1804449 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2810286 rs_370064407

3 SubmittersRCV001653137RCV002538541

NM_000142.5(FGFR3):c.630G>A (p.Gln210=) SNV
Germline
Chr4:1801634 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2809906 rs_777091470

2 SubmittersRCV001774267

NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn) SNV
Germline
Chr4:1801711 Conflicting classifications of pathogenicity Condition: not provided
Connective tissue disorder
Growth failure in early childhood
Criteria Provided
Conflicting Classifications
CA2809926 rs_200495316

4 SubmittersRCV001769325RCV002276886RCV006437085

NM_000142.5(FGFR3):c.1646-11C>A SNV
Germline
Chr4:1805739 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2810524 rs_763302590

2 SubmittersRCV001773180

NM_000142.5(FGFR3):c.446-10C>T SNV
Germline
Chr4:1801357 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA91248950 rs_762297923

2 SubmittersRCV001776834

NM_000142.5(FGFR3):c.1618A>C (p.Asn540His) SNV
Unknown
Chr4:1805642 Likely pathogenic Short stature Criteria Provided
Single Submitter
CA355981579 rs_1057519049

1 SubmittersRCV001785367

NM_000142.5(FGFR3):c.1144G>A (p.Gly382Ser) SNV
Germline
Chr4:1804398 Likely pathogenic Achondroplasia Criteria Provided
Single Submitter
CA355979038 rs_1360936268

1 SubmittersRCV001806350

NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys) SNV
Germline
Chr4:1803804 Pathogenic Hypochondroplasia
Condition: not provided
Criteria Provided
Single Submitter
CA355978461 rs_1044021305

2 SubmittersRCV002052286RCV002550512

NM_000142.5(FGFR3):c.1183C>A (p.Leu395Ile) SNV
Germline
Chr4:1804437 Likely pathogenic Achondroplasia Criteria Provided
Single Submitter
CA355979201 rs_2108797528

1 SubmittersRCV002227915

NM_000142.5(FGFR3):c.473G>A (p.Arg158Gln) SNV
Germline
Chr4:1801394 Conflicting classifications of pathogenicity Condition: not provided
Achondroplasia
FGFR3-related disorder
Criteria Provided
Conflicting Classifications
CA2809858 rs_745863884

3 SubmittersRCV002236415RCV003989755RCV004533982

NM_000142.5(FGFR3):c.639G>A (p.Leu213=) SNV
Germline
Chr4:1801643 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2809908 rs_138707520

2 SubmittersRCV002237229

NM_000142.5(FGFR3):c.802G>T (p.Gly268Cys) SNV
Germline
Chr4:1801897 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA355976243 rs_2108783903

1 SubmittersRCV002237238

NM_000142.5(FGFR3):c.1068G>A (p.Val356=) SNV
Germline
Chr4:1803829 Conflicting classifications of pathogenicity Condition: not provided
Connective tissue disorder
FGFR3-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA2810170 rs_201947443

4 SubmittersRCV002237250RCV002277095RCV004533984RCV004782907

NM_000142.5(FGFR3):c.1584G>C (p.Met528Ile) SNV
Germline
Chr4:1805608 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA355981495 rs_1448843898

3 SubmittersRCV002237272RCV004770425

NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) SNV
Germline
Chr4:1805931 Conflicting classifications of pathogenicity Condition: not provided
Connective tissue disorder
14 conditions
Criteria Provided
Conflicting Classifications
CA2810587 rs_750472969

3 SubmittersRCV002237288RCV002277096RCV002505890

NM_000142.5(FGFR3):c.1861C>T (p.Arg621Cys) SNV
Germline
Chr4:1806075 Conflicting classifications of pathogenicity Condition: not provided
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Criteria Provided
Conflicting Classifications
CA355982305 rs_2108806537

3 SubmittersRCV002236450RCV005869737

NM_000142.5(FGFR3):c.2028C>T (p.Asp676=) SNV
Germline
Chr4:1806325 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2810678 rs_754598297

2 SubmittersRCV002237297RCV003403734

NM_000142.5(FGFR3):c.2030+4C>T SNV
Germline
Chr4:1806331 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2810679 rs_764661082

2 SubmittersRCV002237298

NM_000142.5(FGFR3):c.1663G>T (p.Val555Leu) SNV
Germline
Chr4:1805767 Conflicting classifications of pathogenicity Hypochondroplasia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA355981676 rs_1474187970

4 SubmittersRCV002245545RCV002274252

NM_000142.5(FGFR3):c.1075+8C>T SNV
Germline
Chr4:1803844 Conflicting classifications of pathogenicity Connective tissue disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2810174 rs_779181976

2 SubmittersRCV002278730RCV003096276

NM_000142.5(FGFR3):c.1031C>G (p.Ser344Cys) SNV
Germline
Chr4:1803792 Pathogenic/Likely pathogenic Condition: not provided
Achondroplasia
Criteria Provided
Multiple Submitters
No Conflicts
CA355978425 rs_199702395

2 SubmittersRCV002651792RCV003404135

NM_000142.5(FGFR3):c.2362G>A (p.Val788Met) SNV
Germline
Chr4:1807203 Conflicting classifications of pathogenicity Condition: not provided
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Criteria Provided
Conflicting Classifications
CA2810855 rs_371433215

3 SubmittersRCV002944082RCV004821330

NM_000142.5(FGFR3):c.977T>G (p.Leu326Trp) SNV
Germline
Chr4:1803738 Likely pathogenic Hypochondroplasia Criteria Provided
Single Submitter
CA355978222 rs_2546817560

1 SubmittersRCV003228715

NM_000142.5(FGFR3):c.1910G>A (p.Gly637Glu) SNV
Somatic
Chr4:1806124 Pathogenic Malignant tumor of urinary bladder No Assertion Criteria Provided
CA355982511 rs_2108807160

1 SubmittersRCV003332978

NM_000142.5(FGFR3):c.2089G>A (p.Gly697Ser) SNV
Somatic
Chr4:1806604 Pathogenic Malignant tumor of urinary bladder No Assertion Criteria Provided
CA355983663 rs_121913480

1 SubmittersRCV003332979

NM_000142.5(FGFR3):c.1075+95C>G SNV
Germline
Chr4:1803931 Conflicting classifications of pathogenicity Achondroplasia
Hypochondroplasia
Skeletal dysplasia
Condition: not provided
Achondroplasia
Hypochondroplasia
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2695198360 rs_2546818546

6 SubmittersRCV003444541RCV005623109RCV005626820RCV004780554RCV005254792RCV006342976

NM_000142.5(FGFR3):c.126G>T (p.Glu42Asp) SNV
Germline
Chr4:1799270 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004975082RCV005110268

NM_000142.5(FGFR3):c.2414G>A (p.Arg805Gln) SNV
Germline
Chr4:1807255 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005176347RCV005435516

NM_000142.5(FGFR3):c.746C>A (p.Ser249Tyr) SNV
Germline
Chr4:1801841 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005604442