Total 496 pathogenic variants reported for Fraser syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_207361.6(FREM2):c.7519+1G>A SNV
Germline
Chr13:38859591 Pathogenic Fraser syndrome 2 No Assertion Criteria Provided
CA387898814 rs_1566169711

1 SubmittersRCV000002063

NM_025074.7(FRAS1):c.8602C>T (p.Gln2868Ter) SNV
Germline
Chr4:78481962 Pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Single Submitter
CA115769 rs_120074156

2 SubmittersRCV000002943RCV003555903

NM_025074.7(FRAS1):c.9013C>T (p.Gln3005Ter) SNV
Germline
Chr4:78496859 Pathogenic Fraser syndrome 1 No Assertion Criteria Provided
CA115771 rs_120074157

1 SubmittersRCV000002944

NM_025074.7(FRAS1):c.3799C>T (p.Gln1267Ter) SNV
Germline
Chr4:78387525 Pathogenic Fraser syndrome 1 No Assertion Criteria Provided
CA115773 rs_120074158

1 SubmittersRCV000002946

NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter) SNV
Germline
Chr4:78407804 Pathogenic Fraser syndrome 1 No Assertion Criteria Provided
CA115775 rs_120074159

1 SubmittersRCV000002947

NM_025074.7(FRAS1):c.7522+1G>T SNV
Germline
Chr4:78472331 Pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA212805 rs_730882180

4 SubmittersRCV000002950RCV003555904

NM_001366722.1(GRIP1):c.2269+1G>C SNV
Germline
Chr12:66392676 Pathogenic Fraser syndrome 3 No Assertion Criteria Provided
CA130009 rs_397514485

1 SubmittersRCV000030648

NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) SNV
Germline
Chr13:38690084 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA239063 rs_146685625

4 SubmittersRCV000173598RCV000368546RCV003947465

NM_207361.6(FREM2):c.177T>C (p.Gly59=) SNV
Germline
Chr13:38687521 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
not specified
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA239067 rs_370018440

5 SubmittersRCV000173601RCV001109537RCV001818410RCV003965246

NM_207361.6(FREM2):c.2367G>A (p.Pro789=) SNV
Germline
Chr13:38689711 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
FREM2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA239069 rs_140101984

5 SubmittersRCV000173602RCV000353598RCV003965247RCV001818411

NM_207361.6(FREM2):c.2823C>T (p.Pro941=) SNV
Germline
Chr13:38690167 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
FREM2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA239071 rs_150154438

5 SubmittersRCV000173603RCV000329422RCV003955014RCV001818412

NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) SNV
Germline
Chr13:38688924 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Inborn genetic diseases
not specified
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA239073 rs_139804851

7 SubmittersRCV000293781RCV000724593RCV004619204RCV001818413RCV003955015

NM_207361.6(FREM2):c.7062G>A (p.Thr2354=) SNV
Germline
Chr13:38857880 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA240175 rs_41286130

4 SubmittersRCV000174626RCV001109974

NM_025074.7(FRAS1):c.2722+1G>A SNV
Germline
Chr4:78364055 Pathogenic/Likely pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA201906 rs_794727365

5 SubmittersRCV000224135RCV001172426

NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) SNV
Germline
Chr4:78421901 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
not specified
Inborn genetic diseases
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA244749 rs_1872267

13 SubmittersRCV000388525RCV000658999RCV001818432RCV004619207RCV003977456

NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) SNV
Germline
Chr4:78432433 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
not specified
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA202671 rs_35219594

7 SubmittersRCV000366484RCV000870983RCV000177952RCV003927656

NM_025074.7(FRAS1):c.237T>C (p.Ala79=) SNV
Germline
Chr4:78245253 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA245447 rs_370345916

3 SubmittersRCV000178368RCV000259756

NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) SNV
Germline
Chr4:78252452 Pathogenic Condition: not provided
Fraser syndrome 1
FRAS1-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA203126 rs_377046630

7 SubmittersRCV000178998RCV001172407RCV003407662

NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) SNV
Germline
Chr4:78466217 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
not specified
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA246305 rs_201369510

8 SubmittersRCV000384240RCV000488371RCV001824664RCV003937621

NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe) SNV
Germline
Chr4:78488968 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA246504 rs_200212920

4 SubmittersRCV000179228RCV001155761RCV002515275

NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) SNV
Germline
Chr4:78507468 Conflicting classifications of pathogenicity Condition: not provided
Anophthalmia-microphthalmia syndrome
Fraser syndrome 1
not specified
Inborn genetic diseases
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA246910 rs_200346497

13 SubmittersRCV000179606RCV000207380RCV001151994RCV003488431RCV004619210RCV004742317

NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val) SNV
Germline
Chr13:38848563 Conflicting classifications of pathogenicity Condition: not provided
Isolated cryptophthalmia
Fraser syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA247857 rs_374178459

4 SubmittersRCV000180400RCV002500519RCV004020169

NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) SNV
Germline
Chr12:66392391 Conflicting classifications of pathogenicity not specified
Condition: not provided
Fraser syndrome 3
Intellectual disability
Criteria Provided
Conflicting Classifications
CA6674142 rs_144494437

9 SubmittersRCV000216399RCV000726538RCV001114156RCV001252265

NM_025074.7(FRAS1):c.10948C>T (p.Gln3650Ter) SNV
Germline
Chr4:78534471 Pathogenic/Likely pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA10581274 rs_878853009

3 SubmittersRCV000224396RCV002485447

NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) SNV
Germline
Chr4:78473466 Pathogenic/Likely pathogenic Condition: not provided
Fraser syndrome 1
Congenital anomaly of kidney and urinary tract
Criteria Provided
Multiple Submitters
No Conflicts
CA2978147 rs_745597204

6 SubmittersRCV000223984RCV000778741RCV001328302

NM_001364171.2(ODAD1):c.626G>A (p.Ser209Asn) SNV
Germline
Chr19:48306295 Conflicting classifications of pathogenicity not specified
Primary ciliary dyskinesia
Condition: not provided
Fraser syndrome 3
Criteria Provided
Conflicting Classifications
CA9549015 rs_367799104

5 SubmittersRCV000250979RCV001241549RCV003314585RCV001251019

NM_025074.7(FRAS1):c.3010+1G>A SNV
Germline
Chr4:78372859 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2976788 rs_574631014

3 SubmittersRCV000255482RCV002500960

NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) SNV
Germline
Chr12:66432560 Conflicting classifications of pathogenicity not specified
Fraser syndrome 3
Condition: not provided
GRIP1-related disorder
Criteria Provided
Conflicting Classifications
CA6674307 rs_189438534

11 SubmittersRCV000255801RCV000678296RCV000767020RCV003920025

NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val) SNV
Germline
Chr4:78540690 Conflicting classifications of pathogenicity not specified
Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2979264 rs_145035489

4 SubmittersRCV000283373RCV000394472RCV000870810

NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val) SNV
Germline
Chr4:78521576 Conflicting classifications of pathogenicity Fraser syndrome 1
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2979013 rs_144715071

4 SubmittersRCV000336848RCV000406248RCV000870808

NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln) SNV
Germline
Chr4:78540992 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
not specified
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2979329 rs_140492803

5 SubmittersRCV000366948RCV000870813RCV000405453RCV003909910

NM_207361.6(FREM2):c.6743-9C>T SNV
Germline
Chr13:38851677 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6955673 rs_749834830

4 SubmittersRCV000267475RCV001109971RCV003977752

NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) SNV
Germline
Chr13:38880315 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
FREM2-related disorder
not specified
Isolated cryptophthalmia
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA6956299 rs_114400765

10 SubmittersRCV000280744RCV000725336RCV003930086RCV005407014RCV005396877

NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) SNV
Germline
Chr4:78539301 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2979202 rs_112039037

8 SubmittersRCV000403674RCV000764553RCV003947871

NM_207361.6(FREM2):c.6499C>T (p.Arg2167Trp) SNV
Germline
Chr13:38850157 Conflicting classifications of pathogenicity Condition: not provided
Isolated cryptophthalmia
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA6955578 rs_114837786

4 SubmittersRCV000348468RCV000767220RCV000767221

NM_025074.7(FRAS1):c.3010+9G>A SNV
Germline
Chr4:78372867 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2976790 rs_148841455

4 SubmittersRCV000344196RCV000396312RCV003940018

NM_025074.7(FRAS1):c.969G>A (p.Val323=) SNV
Germline
Chr4:78267420 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2976122 rs_377333036

4 SubmittersRCV000311638RCV000357606RCV003967760

NM_207361.6(FREM2):c.2133G>A (p.Met711Ile) SNV
Germline
Chr13:38689477 Conflicting classifications of pathogenicity not specified
Condition: not provided
Fraser syndrome 2
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6954549 rs_115446826

6 SubmittersRCV000399828RCV000873182RCV001111920RCV003957487

NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) SNV
Germline
Chr4:78537166 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2979180 rs_199510509

8 SubmittersRCV000334766RCV000388584RCV004742364

NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) SNV
Germline
Chr4:78508853 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2978715 rs_377369857

5 SubmittersRCV000281353RCV001153259RCV003920141

NM_207361.6(FREM2):c.5642-9T>C SNV
Germline
Chr13:38783061 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
not specified
Criteria Provided
Conflicting Classifications
CA6955309 rs_148794835

6 SubmittersRCV000290135RCV000373356RCV001701935

NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys) SNV
Germline
Chr4:78466211 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2977978 rs_56291926

4 SubmittersRCV000305628RCV001157258RCV004021284

NM_025074.7(FRAS1):c.195C>T (p.Asn65=) SNV
Germline
Chr4:78237596 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2975857 rs_200429476

2 SubmittersRCV000407938RCV002520268

NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser) SNV
Germline
Chr4:78315698 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2976424 rs_149843493

8 SubmittersRCV000398678RCV001355917RCV003912480

NM_025074.7(FRAS1):c.1820-11C>T SNV
Germline
Chr4:78317357 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976457 rs_117925872

2 SubmittersRCV000346162RCV003669138

NM_025074.7(FRAS1):c.2137G>C (p.Ala713Pro) SNV
Germline
Chr4:78318986 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976556 rs_369605412

3 SubmittersRCV000318364RCV003698777

NM_025074.7(FRAS1):c.2598C>T (p.Thr866=) SNV
Germline
Chr4:78363930 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA2976692 rs_149802708

6 SubmittersRCV000320715RCV000877523RCV005434860

NM_025074.7(FRAS1):c.3152-10T>C SNV
Germline
Chr4:78375729 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976856 rs_776449329

2 SubmittersRCV000398648RCV003708526

NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) SNV
Germline
Chr4:78407714 Conflicting classifications of pathogenicity Fraser syndrome 1
FRAS1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2977123 rs_376487875

6 SubmittersRCV000327375RCV003902353RCV001770277

NM_025074.7(FRAS1):c.4682T>C (p.Leu1561Pro) SNV
Germline
Chr4:78424391 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2977292 rs_376814395

3 SubmittersRCV000336087RCV003574757

NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser) SNV
Germline
Chr4:78473537 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2978164 rs_144530996

6 SubmittersRCV000304479RCV000873180RCV003950236

NM_025074.7(FRAS1):c.7923T>C (p.Asn2641=) SNV
Germline
Chr4:78477886 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978251 rs_765455808

2 SubmittersRCV000325784RCV003727711

NM_025074.7(FRAS1):c.8556C>T (p.Tyr2852=) SNV
Germline
Chr4:78481916 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978409 rs_778885038

2 SubmittersRCV000394378RCV003574758

NM_025074.7(FRAS1):c.9291G>A (p.Lys3097=) SNV
Germline
Chr4:78499896 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2978626 rs_376458338

4 SubmittersRCV000376218RCV000865063RCV003932434

NM_025074.7(FRAS1):c.9505-4G>A SNV
Germline
Chr4:78508727 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978685 rs_367680303

2 SubmittersRCV000284151RCV003556359

NM_025074.7(FRAS1):c.10869G>A (p.Gln3623=) SNV
Germline
Chr4:78526601 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2979091 rs_778772211

3 SubmittersRCV000326546RCV003556360

NM_025074.7(FRAS1):c.11589C>T (p.Ile3863=) SNV
Germline
Chr4:78540674 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2979261 rs_763508870

2 SubmittersRCV000340486RCV003766020

NM_025074.7(FRAS1):c.11681C>T (p.Ala3894Val) SNV
Germline
Chr4:78540766 Conflicting classifications of pathogenicity Fraser syndrome 1
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2979274 rs_772941624

5 SubmittersRCV000305214RCV002520279RCV001861242

NM_025074.7(FRAS1):c.11925C>T (p.Asn3975=) SNV
Germline
Chr4:78541010 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2979335 rs_368578398

2 SubmittersRCV000317661RCV002523488

NM_025074.7(FRAS1):c.667G>A (p.Ala223Thr) SNV
Germline
Chr4:78265088 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2976033 rs_200123398

2 SubmittersRCV000875699RCV000384983

NM_025074.7(FRAS1):c.1256-12C>T SNV
Germline
Chr4:78284393 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976241 rs_370606261

2 SubmittersRCV000363207RCV003766011

NM_025074.7(FRAS1):c.4634C>T (p.Pro1545Leu) SNV
Germline
Chr4:78421956 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2977263 rs_201675499

5 SubmittersRCV000294415RCV001786378RCV003912481

NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) SNV
Germline
Chr4:78421970 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
not specified
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2977267 rs_148663672

9 SubmittersRCV000375909RCV000488060RCV001824752RCV003902354

NM_025074.7(FRAS1):c.4737G>A (p.Pro1579=) SNV
Germline
Chr4:78429120 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2977319 rs_373137263

3 SubmittersRCV000401213RCV003678997RCV003970010

NM_025074.7(FRAS1):c.6569C>T (p.Ser2190Phe) SNV
Germline
Chr4:78451877 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2977821 rs_200166354

4 SubmittersRCV000345247RCV000980053

NM_025074.7(FRAS1):c.7522+12C>G SNV
Germline
Chr4:78472342 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978123 rs_188066525

2 SubmittersRCV000400371RCV002520278

NM_025074.7(FRAS1):c.8605-7C>T SNV
Germline
Chr4:78482381 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2978447 rs_765550592

3 SubmittersRCV000339255RCV003766014RCV003912483

NM_025074.7(FRAS1):c.10852A>G (p.Thr3618Ala) SNV
Germline
Chr4:78526584 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2979089 rs_192225415

4 SubmittersRCV000269085RCV003718221RCV003970012RCV004619272

NM_025074.7(FRAS1):c.11299-8A>C SNV
Germline
Chr4:78539286 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2979199 rs_368551584

2 SubmittersRCV000394486RCV003766019

NM_025074.7(FRAS1):c.11895C>T (p.Asn3965=) SNV
Germline
Chr4:78540980 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2979325 rs_372802938

2 SubmittersRCV000271265RCV000915001

NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) SNV
Germline
Chr4:78265062 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2976030 rs_200053639

6 SubmittersRCV000346722RCV000598265RCV003950235

NM_025074.7(FRAS1):c.2328C>T (p.Cys776=) SNV
Germline
Chr4:78337723 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976614 rs_776037240

2 SubmittersRCV000259530RCV005090564

NM_025074.7(FRAS1):c.1609G>A (p.Val537Met) SNV
Germline
Chr4:78308140 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2976362 rs_367598897

4 SubmittersRCV000374408RCV001861241RCV002520272

NM_025074.7(FRAS1):c.2433C>T (p.His811=) SNV
Germline
Chr4:78363523 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976654 rs_756276943

2 SubmittersRCV000324069RCV002061248

NM_025074.7(FRAS1):c.4160C>T (p.Ala1387Val) SNV
Germline
Chr4:78407693 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2977121 rs_201864889

3 SubmittersRCV000272259RCV000958083RCV003932431

NM_025074.7(FRAS1):c.4557G>A (p.Arg1519=) SNV
Germline
Chr4:78421879 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2977247 rs_773736914

2 SubmittersRCV000333996RCV000930389

NM_025074.7(FRAS1):c.6622C>T (p.Leu2208=) SNV
Germline
Chr4:78452213 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2977843 rs_373744776

3 SubmittersRCV000315047RCV002520276RCV004742393

NM_025074.7(FRAS1):c.6684G>A (p.Gln2228=) SNV
Germline
Chr4:78452275 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2977853 rs_759150629

2 SubmittersRCV000369746RCV003669139

NM_025074.7(FRAS1):c.6726G>A (p.Gln2242=) SNV
Germline
Chr4:78452317 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2977863 rs_761562615

2 SubmittersRCV000312500RCV005090565

NM_025074.7(FRAS1):c.6932C>T (p.Ser2311Leu) SNV
Germline
Chr4:78464486 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2977936 rs_202092409

4 SubmittersRCV000266447RCV002520277RCV003362764

NM_025074.7(FRAS1):c.7451C>T (p.Thr2484Met) SNV
Germline
Chr4:78472259 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978101 rs_200888184

3 SubmittersRCV000354018RCV001591011

NM_025074.7(FRAS1):c.1914G>A (p.Leu638=) SNV
Germline
Chr4:78317462 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976483 rs_778155926

2 SubmittersRCV000370427RCV005090563

NM_025074.7(FRAS1):c.5218-9C>T SNV
Germline
Chr4:78438561 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2977466 rs_369761349

3 SubmittersRCV000306455RCV003698778RCV003897790

NM_025074.7(FRAS1):c.5865C>T (p.Asn1955=) SNV
Germline
Chr4:78446735 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2977649 rs_201750748

3 SubmittersRCV000262786RCV000873523RCV003922537

NM_025074.7(FRAS1):c.7722G>A (p.Thr2574=) SNV
Germline
Chr4:78475477 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978191 rs_569422992

2 SubmittersRCV000365383RCV000916600

NM_025074.7(FRAS1):c.8443+8A>G SNV
Germline
Chr4:78479726 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978361 rs_373820698

2 SubmittersRCV000336626RCV000926026

NM_025074.7(FRAS1):c.7035G>A (p.Glu2345=) SNV
Germline
Chr4:78466213 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10621737 rs_886059633

2 SubmittersRCV000327285RCV003698779

NM_025074.7(FRAS1):c.8004C>T (p.Asn2668=) SNV
Germline
Chr4:78477967 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10621738 rs_886059635

2 SubmittersRCV000382746RCV003766012

NM_025074.7(FRAS1):c.8444-15T>C SNV
Germline
Chr4:78481789 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978374 rs_373332959

2 SubmittersRCV000394370RCV003766013

NM_025074.7(FRAS1):c.8613C>G (p.Thr2871=) SNV
Germline
Chr4:78482396 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978449 rs_758106272

2 SubmittersRCV000400902RCV003766015

NM_025074.7(FRAS1):c.8985C>T (p.His2995=) SNV
Germline
Chr4:78496831 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2978550 rs_201241555

3 SubmittersRCV000331250RCV000895641RCV003957810

NM_025074.7(FRAS1):c.8643G>A (p.Pro2881=) SNV
Germline
Chr4:78482426 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978457 rs_749014065

2 SubmittersRCV000309042RCV003766016

NM_025074.7(FRAS1):c.8698G>A (p.Glu2900Lys) SNV
Germline
Chr4:78482481 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Inborn genetic diseases
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2978467 rs_150998139

4 SubmittersRCV000366027RCV000903182RCV004619271RCV004742394

NM_025074.7(FRAS1):c.9630T>C (p.Ala3210=) SNV
Germline
Chr4:78508856 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978717 rs_761161131

2 SubmittersRCV000306470RCV003718220

NM_025074.7(FRAS1):c.10648+13C>A SNV
Germline
Chr4:78521643 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10621745 rs_886059641

2 SubmittersRCV000297127RCV003766018

NM_025074.7(FRAS1):c.10390-6C>T SNV
Germline
Chr4:78519325 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978955 rs_139412411

2 SubmittersRCV000329374RCV002057966

NM_025074.7(FRAS1):c.11220G>A (p.Thr3740=) SNV
Germline
Chr4:78537122 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2979166 rs_182887871

2 SubmittersRCV000279659RCV000911142

NM_001366722.1(GRIP1):c.2793G>A (p.Ser931=) SNV
Germline
Chr12:66371913 Conflicting classifications of pathogenicity Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6674016 rs_371224677

2 SubmittersRCV000266984RCV003718171

NM_001366722.1(GRIP1):c.2361G>A (p.Lys787=) SNV
Germline
Chr12:66392411 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10633500 rs_886049797

2 SubmittersRCV000380986RCV003678986

NM_207361.6(FREM2):c.532C>A (p.Gln178Lys) SNV
Germline
Chr13:38687876 Conflicting classifications of pathogenicity Fraser syndrome 2
Fraser syndrome 2
Isolated cryptophthalmia
Condition: not provided
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6954225 rs_148774506

4 SubmittersRCV000311247RCV002494973RCV003105864RCV004742381

NM_207361.6(FREM2):c.1395G>A (p.Pro465=) SNV
Germline
Chr13:38688739 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954398 rs_181720619

2 SubmittersRCV000373094RCV003736705

NM_207361.6(FREM2):c.5264-5T>G SNV
Germline
Chr13:38764299 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955203 rs_375059201

2 SubmittersRCV000391801RCV000946101

NM_207361.6(FREM2):c.6669A>G (p.Gln2223=) SNV
Germline
Chr13:38851035 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6955643 rs_114333791

3 SubmittersRCV000391620RCV002522285RCV003957621

NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr) SNV
Germline
Chr13:38857995 Conflicting classifications of pathogenicity Fraser syndrome 2
Fraser syndrome 2
Isolated cryptophthalmia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955779 rs_769767420

4 SubmittersRCV000329779RCV002487379RCV000593390

NM_207361.6(FREM2):c.7800C>T (p.Thr2600=) SNV
Germline
Chr13:38864423 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955972 rs_116030904

2 SubmittersRCV000283320RCV003727666

NM_207361.6(FREM2):c.8061G>A (p.Gly2687=) SNV
Germline
Chr13:38872819 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6956034 rs_147947821

2 SubmittersRCV000278483RCV000877312

NM_207361.6(FREM2):c.8196C>T (p.Ser2732=) SNV
Germline
Chr13:38874501 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6956075 rs_151062281

3 SubmittersRCV000887443RCV000406979RCV003967913

NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser) SNV
Germline
Chr13:38876347 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
FREM2-related disorder
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6956151 rs_766715445

5 SubmittersRCV000268713RCV001356115RCV003950060RCV002487382

NM_001366722.1(GRIP1):c.3048T>C (p.Phe1016=) SNV
Germline
Chr12:66353528 Conflicting classifications of pathogenicity Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6673937 rs_372970620

4 SubmittersRCV000263545RCV001699353

NM_001366722.1(GRIP1):c.872+7A>G SNV
Germline
Chr12:66465268 Conflicting classifications of pathogenicity Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10638455 rs_886049798

3 SubmittersRCV000304287RCV003765813

NM_001366722.1(GRIP1):c.345C>T (p.Asp115=) SNV
Germline
Chr12:66539151 Conflicting classifications of pathogenicity Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6674682 rs_760613522

2 SubmittersRCV000325698RCV002520833

NM_207361.6(FREM2):c.2062C>G (p.Arg688Gly) SNV
Germline
Chr13:38689406 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954528 rs_150928081

3 SubmittersRCV000401773RCV000873153

NM_207361.6(FREM2):c.3015T>C (p.Thr1005=) SNV
Germline
Chr13:38690359 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954713 rs_373638476

2 SubmittersRCV000289764RCV003727663

NM_207361.6(FREM2):c.3738G>A (p.Thr1246=) SNV
Germline
Chr13:38691082 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954842 rs_530142447

2 SubmittersRCV000280504RCV003727664

NM_207361.6(FREM2):c.4038G>A (p.Gly1346=) SNV
Germline
Chr13:38691382 Conflicting classifications of pathogenicity Fraser syndrome 2
FREM2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954910 rs_139044304

3 SubmittersRCV000311186RCV003930330RCV003727665

NM_207361.6(FREM2):c.4657C>G (p.Pro1553Ala) SNV
Germline
Chr13:38692001 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Microcephaly
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6955045 rs_184635412

4 SubmittersRCV000376652RCV000928533RCV001252825RCV005396945

NM_207361.6(FREM2):c.4990G>A (p.Ala1664Thr) SNV
Germline
Chr13:38692334 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6955112 rs_546732114

3 SubmittersRCV000399182RCV002056381RCV004021573

NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) SNV
Germline
Chr13:38769584 Conflicting classifications of pathogenicity Fraser syndrome 2
FREM2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955250 rs_145208009

8 SubmittersRCV000360002RCV003930332RCV001701948

NM_207361.6(FREM2):c.7590C>T (p.Gly2530=) SNV
Germline
Chr13:38861501 Conflicting classifications of pathogenicity Fraser syndrome 2
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955916 rs_200338297

4 SubmittersRCV000323344RCV001701949RCV002056384

NM_207361.6(FREM2):c.*4907C>T SNV
Germline
Chr13:38885694 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10639529 rs_185608262

2 SubmittersRCV000358457RCV003391119

NM_001366722.1(GRIP1):c.240A>G (p.Val80=) SNV
Germline
Chr12:66541847 Conflicting classifications of pathogenicity Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10642378 rs_886049799

2 SubmittersRCV000276324RCV003698761

NM_207361.6(FREM2):c.690T>C (p.Tyr230=) SNV
Germline
Chr13:38688034 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954259 rs_115830086

2 SubmittersRCV000391970RCV002056377

NM_207361.6(FREM2):c.1191C>T (p.Pro397=) SNV
Germline
Chr13:38688535 Conflicting classifications of pathogenicity Fraser syndrome 2
FREM2-related disorder
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA6954360 rs_199831729

4 SubmittersRCV000263202RCV003910162RCV000938260RCV005434807

NM_207361.6(FREM2):c.1603C>T (p.Arg535Cys) SNV
Germline
Chr13:38688947 Conflicting classifications of pathogenicity Fraser syndrome 2
Microcephaly
Condition: not provided
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6954442 rs_201457616

4 SubmittersRCV000329698RCV001252832RCV001494707RCV005008296

NM_207361.6(FREM2):c.3983T>C (p.Met1328Thr) SNV
Germline
Chr13:38691327 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954894 rs_780268243

2 SubmittersRCV000369260RCV003765821

NM_207361.6(FREM2):c.7216-5C>T SNV
Germline
Chr13:38859282 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955807 rs_534318261

3 SubmittersRCV000271894RCV000840844

NM_207361.6(FREM2):c.8281+10G>A SNV
Germline
Chr13:38874596 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6956097 rs_374250366

2 SubmittersRCV000406981RCV003727668

NM_207361.6(FREM2):c.8757A>G (p.Leu2919=) SNV
Germline
Chr13:38878219 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6956214 rs_144702001

2 SubmittersRCV000359928RCV000919578

NM_207361.6(FREM2):c.9238C>T (p.Leu3080=) SNV
Germline
Chr13:38880515 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6956341 rs_138154238

2 SubmittersRCV000280083RCV002522289

NM_207361.6(FREM2):c.135G>T (p.Pro45=) SNV
Germline
Chr13:38687479 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10644390 rs_886050186

2 SubmittersRCV000335661RCV003678987

NM_207361.6(FREM2):c.335A>G (p.Asn112Ser) SNV
Germline
Chr13:38687679 Conflicting classifications of pathogenicity Fraser syndrome 2
Inborn genetic diseases
Condition: not provided
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6954189 rs_767098305

4 SubmittersRCV000391980RCV003362755RCV003718172RCV004742380

NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu) SNV
Germline
Chr13:38688991 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954455 rs_114341997

3 SubmittersRCV000384227RCV000875067

NM_207361.6(FREM2):c.1737C>T (p.Ile579=) SNV
Germline
Chr13:38689081 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954470 rs_144811771

4 SubmittersRCV000289801RCV000732461

NM_207361.6(FREM2):c.2214A>G (p.Leu738=) SNV
Germline
Chr13:38689558 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954568 rs_533231784

2 SubmittersRCV000302444RCV003727662

NM_207361.6(FREM2):c.5677G>A (p.Val1893Ile) SNV
Germline
Chr13:38783105 Conflicting classifications of pathogenicity Fraser syndrome 2
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6955317 rs_548177107

2 SubmittersRCV000276477RCV004725163

NM_207361.6(FREM2):c.6273G>A (p.Ala2091=) SNV
Germline
Chr13:38848564 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6955502 rs_769687764

3 SubmittersRCV000345849RCV003565402RCV003910165

NM_207361.6(FREM2):c.7216-15A>G SNV
Germline
Chr13:38859272 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955805 rs_759789024

2 SubmittersRCV000368136RCV002522286

NM_207361.6(FREM2):c.7663G>T (p.Val2555Leu) SNV
Germline
Chr13:38864286 Conflicting classifications of pathogenicity Fraser syndrome 2
FREM2-related disorder
Epidermolysis bullosa simplex with nail dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955953 rs_200997496

5 SubmittersRCV000380191RCV003910166RCV001089662RCV002056385

NM_207361.6(FREM2):c.8160A>C (p.Pro2720=) SNV
Germline
Chr13:38872918 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6956046 rs_200528879

3 SubmittersRCV000335915RCV003727667RCV003950059

NM_207361.6(FREM2):c.8337C>T (p.Ser2779=) SNV
Germline
Chr13:38876077 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA6956114 rs_181564966

3 SubmittersRCV000309019RCV000950970RCV001820922

NM_207361.6(FREM2):c.8671+14A>G SNV
Germline
Chr13:38877257 Conflicting classifications of pathogenicity Fraser syndrome 2
FREM2-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6956187 rs_182974545

3 SubmittersRCV000326068RCV003910167RCV003765822

NM_001366722.1(GRIP1):c.1645A>G (p.Ile549Val) SNV
Germline
Chr12:66444626 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 3
GRIP1-related disorder
Criteria Provided
Conflicting Classifications
CA6674335 rs_201867922

5 SubmittersRCV000434726RCV001110879RCV003922752

NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) SNV
Germline
Chr12:66541927 Conflicting classifications of pathogenicity Abnormal brain morphology
Fraser syndrome 3
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA6674728 rs_199768740

9 SubmittersRCV000454212RCV001110212RCV000893656RCV002230083

NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) SNV
Germline
Chr4:78364051 Pathogenic/Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2976718 rs_755750961

4 SubmittersRCV000500822RCV000760330

NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=) SNV
Germline
Chr4:78400853 Conflicting classifications of pathogenicity not specified
Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2977089 rs_79869130

6 SubmittersRCV000502497RCV000871789RCV001155348

NM_025074.7(FRAS1):c.4807C>T (p.Arg1603Trp) SNV
Germline
Chr4:78429190 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA99957056 rs_961911715

5 SubmittersRCV000502898RCV003437234RCV004975598RCV005034042

NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr) SNV
Germline
Chr4:78372804 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2976778 rs_111554790

6 SubmittersRCV000514473RCV001151503RCV004742471

NM_207361.6(FREM2):c.6333C>T (p.Gly2111=) SNV
Germline
Chr13:38848624 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
FREM2-related disorder
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6955518 rs_116763572

5 SubmittersRCV000594798RCV001112651RCV003945391RCV005010571

NM_025074.7(FRAS1):c.8752+9T>C SNV
Germline
Chr4:78482544 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2978478 rs_191984935

3 SubmittersRCV000593955RCV002491187

NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) SNV
Germline
Chr4:78432512 Pathogenic/Likely pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2977423 rs_775517752

5 SubmittersRCV000593264RCV001330027

NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter) SNV
Germline
Chr13:38851093 Pathogenic/Likely pathogenic 8 conditions
Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6955656 rs_767978562

3 SubmittersRCV000627019RCV002509476RCV003727790

NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) SNV
Germline
Chr4:78540802 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2979286 rs_61748814

5 SubmittersRCV000660411RCV001572828

NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met) SNV
Germline
Chr4:78369976 Conflicting classifications of pathogenicity not specified
Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2976754 rs_17003166

5 SubmittersRCV000732334RCV000871682RCV001156926

NM_025074.7(FRAS1):c.11317G>C (p.Val3773Leu) SNV
Germline
Chr4:78539312 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2979203 rs_150567662

4 SubmittersRCV000732351RCV002535268RCV005046995

NM_025074.7(FRAS1):c.7029+7G>A SNV
Germline
Chr4:78464590 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2977958 rs_183687186

3 SubmittersRCV000733473RCV001157257

NM_001366722.1(GRIP1):c.30T>A (p.Cys10Ter) SNV
Germline
Chr12:66678875 Pathogenic/Likely pathogenic Condition: not provided
Fraser syndrome 3
Criteria Provided
Multiple Submitters
No Conflicts
CA6674782 rs_758192469

4 SubmittersRCV000760683RCV003992382

NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter) SNV
Germline
Chr4:78438905 Pathogenic/Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2977501 rs_757311669

2 SubmittersRCV000761280RCV003708552

NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) SNV
Germline
Chr13:38689550 Pathogenic Isolated cryptophthalmia
Isolated cryptophthalmia
Fraser syndrome 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA387888340 rs_939534674

5 SubmittersRCV000767223RCV002493397RCV001702715

NM_207361.6(FREM2):c.4063C>T (p.Arg1355Ter) SNV
Germline
Chr13:38691407 Pathogenic/Likely pathogenic Isolated cryptophthalmia
Condition: not provided
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Multiple Submitters
No Conflicts
CA6954913 rs_765324128

3 SubmittersRCV000767225RCV003718286RCV005012291

NM_207361.6(FREM2):c.2608C>T (p.Gln870Ter) SNV
Germline
Chr13:38689952 Likely pathogenic FREM2-related disorder
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Single Submitter
CA6954641 rs_750020230

2 SubmittersRCV003892699RCV005012296

NM_207361.6(FREM2):c.5059G>T (p.Glu1687Ter) SNV
Germline
Chr13:38692403 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6955127 rs_148965852

4 SubmittersRCV001572959RCV005392374

NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter) SNV
Germline
Chr4:78526552 Pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Single Submitter
CA99980617 rs_1006839535

2 SubmittersRCV000782142RCV003320744

NM_025074.7(FRAS1):c.2894G>T (p.Cys965Phe) SNV
Germline
Chr4:78372742 Likely pathogenic Fraser syndrome 1 No Assertion Criteria Provided
CA357373648 rs_1325190118

1 SubmittersRCV000782359

NM_025074.7(FRAS1):c.516G>A (p.Trp172Ter) SNV
Germline
Chr4:78255288 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357352420 rs_1432850828

1 SubmittersRCV000790410

NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu) SNV
Germline
Chr4:78375778 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2976867 rs_779286671

4 SubmittersRCV000804118RCV002487714

NM_025074.7(FRAS1):c.8414A>G (p.Asn2805Ser) SNV
Germline
Chr4:78479689 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Microcephaly
FRAS1-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2978349 rs_117838818

5 SubmittersRCV000864878RCV001157348RCV001252860RCV003908206RCV004619440

NM_025074.7(FRAS1):c.8940A>G (p.Thr2980=) SNV
Germline
Chr4:78489062 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2978525 rs_375788413

2 SubmittersRCV000864267RCV001155762

NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg) SNV
Germline
Chr13:38692304 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
Inborn genetic diseases
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6955107 rs_114595447

6 SubmittersRCV000865326RCV001110583RCV002536271RCV005012387

NM_207361.6(FREM2):c.7323G>A (p.Ala2441=) SNV
Germline
Chr13:38859394 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
not specified
Criteria Provided
Conflicting Classifications
CA6955828 rs_147563277

5 SubmittersRCV000864640RCV001110759RCV001702854

NM_025074.7(FRAS1):c.2647G>A (p.Val883Met) SNV
Germline
Chr4:78363979 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2976706 rs_377068014

3 SubmittersRCV000871923RCV001155259RCV003955683

NM_025074.7(FRAS1):c.3065A>C (p.Lys1022Thr) SNV
Germline
Chr4:78374165 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Inborn genetic diseases
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2976816 rs_201252328

8 SubmittersRCV000876608RCV001151504RCV004027876RCV003930436

NM_025074.7(FRAS1):c.4346G>T (p.Ser1449Ile) SNV
Germline
Chr4:78413006 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2977168 rs_201131604

4 SubmittersRCV000877954RCV001157033RCV002539256

NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr) SNV
Germline
Chr4:78438909 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2977502 rs_150916370

6 SubmittersRCV000872516RCV001157148RCV003955690

NM_025074.7(FRAS1):c.8010C>T (p.Thr2670=) SNV
Germline
Chr4:78477973 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2978266 rs_370597256

2 SubmittersRCV000872609RCV001155668

NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln) SNV
Germline
Chr4:78499901 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
not specified
Inborn genetic diseases
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2978628 rs_149692526

6 SubmittersRCV000872021RCV001151993RCV001817014RCV002539970RCV003930389

NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met) SNV
Germline
Chr4:78507550 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
not specified
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2978663 rs_150680111

6 SubmittersRCV000872022RCV001151995RCV001817015RCV003930390

NM_025074.7(FRAS1):c.9628G>A (p.Ala3210Thr) SNV
Germline
Chr4:78508854 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2978716 rs_145189350

4 SubmittersRCV000877371RCV003141886RCV004027885

NM_207361.6(FREM2):c.109C>T (p.Leu37Phe) SNV
Germline
Chr13:38687453 Conflicting classifications of pathogenicity Condition: not provided
FREM2-related disorder
Fraser syndrome 2
Isolated cryptophthalmia
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA6954150 rs_183560588

5 SubmittersRCV000872666RCV003908284RCV001115161RCV005392488

NM_207361.6(FREM2):c.595G>T (p.Ala199Ser) SNV
Germline
Chr13:38687939 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6954240 rs_151296346

4 SubmittersRCV000872372RCV001111820RCV003908282

NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser) SNV
Germline
Chr13:38851040 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA6955644 rs_143576067

3 SubmittersRCV000872069RCV001114008

NM_025074.7(FRAS1):c.4679-9C>T SNV
Germline
Chr4:78424379 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2977291 rs_541669781

3 SubmittersRCV001154630RCV001253867RCV003906275

NM_025074.7(FRAS1):c.11811G>A (p.Lys3937=) SNV
Germline
Chr4:78540896 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2979303 rs_373149321

2 SubmittersRCV000886339RCV001156092

NM_025074.7(FRAS1):c.10808+9A>G SNV
Germline
Chr4:78522817 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA915943078 rs_1560425399

2 SubmittersRCV000887929RCV005047142

NM_025074.7(FRAS1):c.2835G>A (p.Gln945=) SNV
Germline
Chr4:78369950 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2976749 rs_137923783

4 SubmittersRCV000902046RCV001156924

NM_025074.7(FRAS1):c.11682G>A (p.Ala3894=) SNV
Germline
Chr4:78540767 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2979275 rs_376389151

2 SubmittersRCV000902787RCV001153492

NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) SNV
Germline
Chr13:38688594 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA6954373 rs_571694324

5 SubmittersRCV000903964RCV001113631

NM_207361.6(FREM2):c.5790G>A (p.Pro1930=) SNV
Germline
Chr13:38784579 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6955354 rs_114346379

3 SubmittersRCV000910511RCV001110670RCV003958313

NM_025074.7(FRAS1):c.3649-9A>C SNV
Germline
Chr4:78387366 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2976990 rs_763538373

3 SubmittersRCV000897188RCV001155343RCV004742686

NM_001366722.1(GRIP1):c.1428G>A (p.Thr476=) SNV
Germline
Chr12:66445435 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 3
not specified
Criteria Provided
Conflicting Classifications
CA6674374 rs_202009431

4 SubmittersRCV000932111RCV001110881RCV004689933

NM_001366722.1(GRIP1):c.1688-6T>C SNV
Germline
Chr12:66432634 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 3
Criteria Provided
Conflicting Classifications
CA6674315 rs_111776176

2 SubmittersRCV000933203RCV001110123

NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) SNV
Germline/somatic
Chr9:69237907 Pathogenic/Likely pathogenic Cholestasis, progressive familial intrahepatic, 4
Melnick-Fraser syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA5073609 rs_139314808

2 SubmittersRCV000993655RCV001375126

NM_001366722.1(GRIP1):c.3223G>A (p.Gly1075Arg) SNV
Germline
Chr12:66349183 Conflicting classifications of pathogenicity Fraser syndrome 3
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6673895 rs_201410285

3 SubmittersRCV001110817RCV003346320

NM_001366722.1(GRIP1):c.3222C>T (p.Ser1074=) SNV
Germline
Chr12:66349184 Conflicting classifications of pathogenicity Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6673896 rs_558365010

2 SubmittersRCV001110818RCV003558672

NM_001366722.1(GRIP1):c.2814T>C (p.Asn938=) SNV
Germline
Chr12:66371892 Conflicting classifications of pathogenicity Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA480572929 rs_2055525326

2 SubmittersRCV001112802RCV003688903

NM_001366722.1(GRIP1):c.2394G>A (p.Thr798=) SNV
Germline
Chr12:66392378 Conflicting classifications of pathogenicity Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA480739537 rs_1300664235

3 SubmittersRCV001114155RCV003718332

NM_001366722.1(GRIP1):c.1269G>A (p.Gly423=) SNV
Germline
Chr12:66455494 Conflicting classifications of pathogenicity Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6674423 rs_539858835

2 SubmittersRCV001110883RCV003708566

NM_207361.6(FREM2):c.297G>A (p.Val99=) SNV
Germline
Chr13:38687641 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA483426950 rs_770972612

2 SubmittersRCV001109538RCV003688902

NM_207361.6(FREM2):c.1020A>G (p.Pro340=) SNV
Germline
Chr13:38688364 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA248286375 rs_150328266

2 SubmittersRCV001112288RCV003769130

NM_207361.6(FREM2):c.1398A>G (p.Gln466=) SNV
Germline
Chr13:38688742 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954400 rs_772742256

2 SubmittersRCV001113633RCV003708569

NM_207361.6(FREM2):c.2103G>A (p.Pro701=) SNV
Germline
Chr13:38689447 Conflicting classifications of pathogenicity Fraser syndrome 2
Isolated cryptophthalmia
Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954543 rs_117758105

3 SubmittersRCV001111919RCV002497522RCV002555082

NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser) SNV
Germline
Chr13:38690640 Conflicting classifications of pathogenicity Fraser syndrome 2
Isolated cryptophthalmia
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA6954777 rs_374360439

3 SubmittersRCV001112025RCV004726886

NM_207361.6(FREM2):c.3908C>T (p.Thr1303Met) SNV
Germline
Chr13:38691252 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954879 rs_138477887

2 SubmittersRCV001112468RCV003727863

NM_207361.6(FREM2):c.4910A>G (p.Glu1637Gly) SNV
Germline
Chr13:38692254 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6955096 rs_531905447

3 SubmittersRCV001110581RCV002069785RCV004032156

NM_207361.6(FREM2):c.5580C>T (p.Pro1860=) SNV
Germline
Chr13:38769747 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955278 rs_780872307

2 SubmittersRCV001109886RCV003769117

NM_207361.6(FREM2):c.6196C>G (p.Arg2066Gly) SNV
Germline
Chr13:38848487 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6955489 rs_9548505

3 SubmittersRCV003708568RCV001112650RCV005012562

NM_207361.6(FREM2):c.7332C>T (p.Asp2444=) SNV
Germline
Chr13:38859403 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6955830 rs_773197293

3 SubmittersRCV002558107RCV001110760RCV003928709

NM_207361.6(FREM2):c.7429C>T (p.Arg2477Trp) SNV
Germline
Chr13:38859500 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6955855 rs_143571375

5 SubmittersRCV001112747RCV001593274RCV003938462

NM_207361.6(FREM2):c.8172T>A (p.Leu2724=) SNV
Germline
Chr13:38872930 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6956049 rs_201065518

2 SubmittersRCV001114100RCV002069837

NM_207361.6(FREM2):c.8451A>C (p.Pro2817=) SNV
Germline
Chr13:38876289 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6956142 rs_201533042

2 SubmittersRCV001110064RCV003769119

NM_207361.6(FREM2):c.8838C>T (p.Leu2946=) SNV
Germline
Chr13:38878300 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6956226 rs_769142295

2 SubmittersRCV001110832RCV002069787

NM_207361.6(FREM2):c.5263+10C>T SNV
Germline
Chr13:38697797 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6955187 rs_781240147

3 SubmittersRCV001112569RCV003106119RCV003898105

NM_207361.6(FREM2):c.5410+11T>A SNV
Germline
Chr13:38764461 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955236 rs_747849923

2 SubmittersRCV001113909RCV003769136

NM_207361.6(FREM2):c.6020-13C>T SNV
Germline
Chr13:38846560 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955427 rs_200860319

2 SubmittersRCV001110673RCV003718329

NM_207361.6(FREM2):c.7519+12C>T SNV
Germline
Chr13:38859602 Conflicting classifications of pathogenicity Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA609454166 rs_1376730588

2 SubmittersRCV001112749RCV003769134

NM_025074.7(FRAS1):c.384A>G (p.Gln128=) SNV
Germline
Chr4:78252466 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2975928 rs_566690413

2 SubmittersRCV001154210RCV003660859

NM_025074.7(FRAS1):c.527G>A (p.Arg176Gln) SNV
Germline
Chr4:78255299 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2975982 rs_183328334

8 SubmittersRCV001155052RCV001573104RCV003918743

NM_025074.7(FRAS1):c.885C>T (p.Asp295=) SNV
Germline
Chr4:78267336 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976108 rs_562224966

2 SubmittersRCV001151266RCV003727917

NM_025074.7(FRAS1):c.903G>A (p.Ser301=) SNV
Germline
Chr4:78267354 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976114 rs_373613705

2 SubmittersRCV001151267RCV003558719

NM_025074.7(FRAS1):c.1371T>C (p.Gly457=) SNV
Germline
Chr4:78284520 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA439973841 rs_746772122

2 SubmittersRCV001155162RCV003708579

NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys) SNV
Germline
Chr4:78317466 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
not specified
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2976486 rs_147869493

9 SubmittersRCV001151397RCV001171737RCV002271622RCV003918742

NM_025074.7(FRAS1):c.3567A>G (p.Lys1189=) SNV
Germline
Chr4:78384062 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976959 rs_778818485

2 SubmittersRCV001154521RCV003718369

NM_025074.7(FRAS1):c.5474T>G (p.Met1825Arg) SNV
Germline
Chr4:78439009 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2977517 rs_200477457

4 SubmittersRCV001157149RCV001572842

NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) SNV
Germline
Chr4:78450162 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2977744 rs_193229946

4 SubmittersRCV001151693RCV001858992

NM_025074.7(FRAS1):c.7422C>A (p.Thr2474=) SNV
Germline
Chr4:78472230 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978086 rs_759674249

2 SubmittersRCV001151798RCV003737003

NM_025074.7(FRAS1):c.8295G>A (p.Glu2765=) SNV
Germline
Chr4:78479570 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978326 rs_372900422

2 SubmittersRCV001157345RCV003769753

NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys) SNV
Germline
Chr4:78479616 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978331 rs_190483418

3 SubmittersRCV001157347RCV002557344

NM_025074.7(FRAS1):c.8460A>G (p.Pro2820=) SNV
Germline
Chr4:78481820 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978381 rs_200879198

2 SubmittersRCV001151898RCV002070842

NM_025074.7(FRAS1):c.8844C>T (p.Ser2948=) SNV
Germline
Chr4:78488966 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA439979184 rs_778096225

2 SubmittersRCV001155760RCV003769747

NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala) SNV
Germline
Chr4:78511320 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978780 rs_78006948

7 SubmittersRCV001155855RCV001573252

NM_025074.7(FRAS1):c.10041C>G (p.His3347Gln) SNV
Germline
Chr4:78513419 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978850 rs_552676865

2 SubmittersRCV001157554RCV002032458

NM_025074.7(FRAS1):c.11637T>C (p.Asn3879=) SNV
Germline
Chr4:78540722 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2979270 rs_147734882

2 SubmittersRCV001153491RCV003546661

NM_025074.7(FRAS1):c.11815G>A (p.Ala3939Thr) SNV
Germline
Chr4:78540900 Conflicting classifications of pathogenicity Fraser syndrome 1
FRAS1-related disorder
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2979305 rs_375807410

4 SubmittersRCV001156093RCV004743303RCV002070921RCV005328544

NM_025074.7(FRAS1):c.2870-5T>C SNV
Germline
Chr4:78372713 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976764 rs_768834170

2 SubmittersRCV001156927RCV003727921

NM_025074.7(FRAS1):c.3648+12G>A SNV
Germline
Chr4:78384155 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2976970 rs_764016097

2 SubmittersRCV001154522RCV003769738

NM_025074.7(FRAS1):c.285C>A (p.Cys95Ter) SNV
Germline
Chr4:78245301 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357351887 rs_1725182255

1 SubmittersRCV001172405

NM_025074.7(FRAS1):c.619C>T (p.Arg207Ter) SNV
Germline
Chr4:78265040 Pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2976026 rs_748696533

2 SubmittersRCV001172414RCV003708582

NM_025074.7(FRAS1):c.1121G>A (p.Trp374Ter) SNV
Germline
Chr4:78282833 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357365730 rs_1727394990

1 SubmittersRCV001172419

NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter) SNV
Germline
Chr4:78282865 Pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2976202 rs_775259788

3 SubmittersRCV001172416RCV003769845

NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter) SNV
Germline
Chr4:78318859 Pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA357368509 rs_1338479649

2 SubmittersRCV001172424RCV003769846

NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter) SNV
Germline
Chr4:78387456 Pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2977007 rs_186964660

4 SubmittersRCV001172412RCV003558742

NM_025074.7(FRAS1):c.4111C>T (p.Gln1371Ter) SNV
Germline
Chr4:78400869 Pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA357379689 rs_1732862637

2 SubmittersRCV001172408RCV003558741

NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) SNV
Germline
Chr4:78407716 Pathogenic/Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA357377992 rs_1733155852

3 SubmittersRCV001172430RCV003727941

NM_025074.7(FRAS1):c.5134C>T (p.Arg1712Ter) SNV
Germline
Chr4:78432521 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA2977427 rs_535527511

1 SubmittersRCV001172415

NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser) SNV
Germline
Chr4:78446880 Pathogenic/Likely pathogenic Fraser syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA2977676 rs_771251344

2 SubmittersRCV001172433

NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter) SNV
Germline
Chr4:78507570 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357379428 rs_1227013948

1 SubmittersRCV001172431

NM_025074.7(FRAS1):c.9627C>A (p.Tyr3209Ter) SNV
Germline
Chr4:78508853 Pathogenic Fraser syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
CA357380458 rs_377369857

2 SubmittersRCV001172436

NM_025074.7(FRAS1):c.10999C>T (p.Gln3667Ter) SNV
Germline
Chr4:78534522 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357396533 rs_1721821279

1 SubmittersRCV001172439

NM_025074.7(FRAS1):c.11158C>T (p.Gln3720Ter) SNV
Germline
Chr4:78537060 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357398982 rs_1219344385

1 SubmittersRCV001172410

NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter) SNV
Germline
Chr4:78540558 Pathogenic/Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2979242 rs_765622092

2 SubmittersRCV001172425RCV003688920

NM_207361.6(FREM2):c.1930C>T (p.Gln644Ter) SNV
Germline
Chr13:38689274 Pathogenic Fraser syndrome 2 Criteria Provided
Single Submitter
CA387887751 rs_1869683236

1 SubmittersRCV001172417

NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly) SNV
Germline
Chr13:38691882 Likely pathogenic Fraser syndrome 2 Criteria Provided
Single Submitter
CA387893351 rs_1869886793

1 SubmittersRCV001172402

NM_025074.7(FRAS1):c.688-5T>G SNV
Germline
Chr4:78266829 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA1139658524 rs_775548230

1 SubmittersRCV001172413

NM_025074.7(FRAS1):c.1399+1G>A SNV
Germline
Chr4:78284549 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357366465 rs_1727490024

1 SubmittersRCV001172421

NM_025074.7(FRAS1):c.8098+1G>T SNV
Germline
Chr4:78478062 Pathogenic/Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2978278 rs_376088537

2 SubmittersRCV001172435RCV003660865

NM_025074.7(FRAS1):c.8604+5G>A SNV
Germline
Chr4:78481969 Likely pathogenic Fraser syndrome 1
Congenital anomaly of kidney and urinary tract
Criteria Provided
Single Submitter
CA99955783 rs_200282443

2 SubmittersRCV001172428RCV001328204

NM_025074.7(FRAS1):c.9316+2T>A SNV
Germline
Chr4:78499923 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357378210 rs_1358085095

1 SubmittersRCV001172406

NM_025074.7(FRAS1):c.10541-1G>A SNV
Germline
Chr4:78521522 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357389473 rs_1721385740

1 SubmittersRCV001172438

NM_025074.7(FRAS1):c.11298+1G>A SNV
Germline
Chr4:78537201 Pathogenic/Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2979183 rs_371268544

3 SubmittersRCV001172420RCV003708583

NM_001366722.1(GRIP1):c.1930C>T (p.Gln644Ter) SNV
Unknown
Chr12:66406337 Pathogenic Fraser syndrome 3 No Assertion Criteria Provided
CA385634475 rs_2057189303

1 SubmittersRCV001251009

NM_000049.4(ASPA):c.806C>T (p.Thr269Met) SNV
Germline
Chr17:3498952 Conflicting classifications of pathogenicity Fraser syndrome 3
Spongy degeneration of central nervous system
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8289041 rs_773849106

3 SubmittersRCV001251015RCV001425587RCV004035300

NM_025074.7(FRAS1):c.547A>T (p.Arg183Ter) SNV
Germline
Chr4:78255319 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA2975985 rs_372173451

2 SubmittersRCV001376125

NM_025074.7(FRAS1):c.4843+2T>C SNV
Germline
Chr4:78429228 Conflicting classifications of pathogenicity Congenital anomaly of kidney and urinary tract
Fraser syndrome 1
Condition: not provided
Cryptophthalmos syndrome
Criteria Provided
Conflicting Classifications
CA2977338 rs_370018000

6 SubmittersRCV001328202RCV001780227RCV001732106RCV005360010

NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter) SNV
Germline
Chr4:78466262 Pathogenic/Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA99984844 rs_777438557

4 SubmittersRCV001283829RCV002537928

NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter) SNV
Germline
Chr4:78407792 Pathogenic/Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2977139 rs_753263924

4 SubmittersRCV001645007RCV003770809

NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) SNV
Germline
Chr4:78450309 Pathogenic/Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2977779 rs_756005814

5 SubmittersRCV001645008RCV005057270

NM_025074.7(FRAS1):c.2869+1G>A SNV
Unknown
Chr4:78369985 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357373491 rs_1731436153

1 SubmittersRCV001330026

NM_025074.7(FRAS1):c.6202A>T (p.Lys2068Ter) SNV
Germline
Chr4:78448244 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357393596 rs_1578330963

1 SubmittersRCV001376187

NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter) SNV
Germline
Chr4:78464062 Pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA357401161 rs_1460031293

3 SubmittersRCV001387516RCV001780361

NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter) SNV
Germline
Chr13:38689647 Likely pathogenic Fraser syndrome 2 Criteria Provided
Single Submitter
CA387888536 rs_2138066721

1 SubmittersRCV001844350

NM_025074.7(FRAS1):c.10261C>T (p.Arg3421Ter) SNV
Germline
Chr4:78515885 Pathogenic/Likely pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2978906 rs_201947516

3 SubmittersRCV001756405RCV005040343

NM_025074.7(FRAS1):c.2811T>A (p.Cys937Ter) SNV
Germline
Chr4:78369926 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357373230 rs_936338537

1 SubmittersRCV001781130

NM_025074.7(FRAS1):c.3631C>T (p.Gln1211Ter) SNV
Germline
Chr4:78384126 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357376436 rs_2110325478

1 SubmittersRCV001807682

NM_025074.7(FRAS1):c.5857-5A>G SNV
Germline
Chr4:78446722 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA2573052353 rs_1718842724

1 SubmittersRCV001807684

NM_025074.7(FRAS1):c.3293-2A>T SNV
Germline
Chr4:78379724 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357375509 rs_2110319166

1 SubmittersRCV001806447

NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter) SNV
Germline
Chr4:78267385 Pathogenic/Likely pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA99950181 rs_377137481

4 SubmittersRCV001843641RCV002489897

NM_025074.7(FRAS1):c.2962G>A (p.Val988Met) SNV
Germline
Chr4:78372810 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2976780 rs_368228939

4 SubmittersRCV001961291RCV002484853RCV004044664

NM_207361.6(FREM2):c.6201T>A (p.Asn2067Lys) SNV
Germline
Chr13:38848492 Conflicting classifications of pathogenicity Condition: not provided
Isolated cryptophthalmia
Fraser syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6955491 rs_114229197

3 SubmittersRCV002032018RCV004729057RCV004616971

NM_025074.7(FRAS1):c.1100G>A (p.Arg367His) SNV
Germline
Chr4:78281426 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2976174 rs_200344686

3 SubmittersRCV001957573RCV004616883RCV005031908

NM_207361.6(FREM2):c.7366G>A (p.Asp2456Asn) SNV
Germline
Chr13:38859437 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6955839 rs_138539682

2 SubmittersRCV002041714RCV002482412

NM_025074.7(FRAS1):c.1177G>A (p.Glu393Lys) SNV
Germline
Chr4:78282889 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2976208 rs_376133490

3 SubmittersRCV001901683RCV002478333RCV005343126

NM_207361.6(FREM2):c.6578-7G>T SNV
Germline
Chr13:38850937 Conflicting classifications of pathogenicity Condition: not provided
Isolated cryptophthalmia
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA2573149631 rs_2137911376

2 SubmittersRCV002138719RCV005008473

NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter) SNV
Germline
Chr13:38690495 Pathogenic/Likely pathogenic Fraser syndrome 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA6954745 rs_376122266

2 SubmittersRCV002251218RCV003774734

NM_001366722.1(GRIP1):c.386T>C (p.Val129Ala) SNV
Germline
Chr12:66539110 Conflicting classifications of pathogenicity not specified
Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6674677 rs_568959118

3 SubmittersRCV002271927RCV003492746RCV003698894

NM_207361.6(FREM2):c.9019C>T (p.Arg3007Ter) SNV
Germline
Chr13:38880296 Conflicting classifications of pathogenicity not specified
Condition: not provided
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA387909787 rs_1242415839

3 SubmittersRCV002281838RCV003138151RCV005008516

NM_207361.6(FREM2):c.3761T>A (p.Leu1254Ter) SNV
Germline
Chr13:38691105 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA387891670 rs_2541358924

1 SubmittersRCV002308536

NM_025074.7(FRAS1):c.7258-2A>G SNV
Germline
Chr4:78469976 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357405048 rs_2477286570

1 SubmittersRCV002470130

NM_207361.6(FREM2):c.2216G>A (p.Arg739His) SNV
Germline
Chr13:38689560 Conflicting classifications of pathogenicity Isolated cryptophthalmia
Fraser syndrome 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954570 rs_773104019

2 SubmittersRCV004725547RCV002623288

NM_207361.6(FREM2):c.437C>G (p.Pro146Arg) SNV
Germline
Chr13:38687781 Conflicting classifications of pathogenicity Condition: not provided
Isolated cryptophthalmia
Fraser syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6954205 rs_564740435

4 SubmittersRCV003104392RCV004725632RCV004978744

NM_207361.6(FREM2):c.4636A>G (p.Ser1546Gly) SNV
Germline
Chr13:38691980 Conflicting classifications of pathogenicity Condition: not provided
Isolated cryptophthalmia
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA6955041 rs_137891381

2 SubmittersRCV002585929RCV005008618

NM_025074.7(FRAS1):c.3514G>A (p.Asp1172Asn) SNV
Germline
Chr4:78379947 Conflicting classifications of pathogenicity Condition: not provided
FRAS1-related disorder
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2976930 rs_116378993

4 SubmittersRCV002643226RCV004744406RCV005042939

NM_207361.6(FREM2):c.6098C>T (p.Thr2033Met) SNV
Germline
Chr13:38846651 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6955447 rs_143791655

2 SubmittersRCV002966421RCV005010819

NM_207361.6(FREM2):c.6614A>G (p.Asp2205Gly) SNV
Germline
Chr13:38850980 Conflicting classifications of pathogenicity Condition: not provided
Isolated cryptophthalmia
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA6955630 rs_771744013

3 SubmittersRCV002995516RCV004725444

NM_025074.7(FRAS1):c.7280C>A (p.Pro2427Gln) SNV
Germline
Chr4:78470000 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2978043 rs_113732809

4 SubmittersRCV003008949RCV003008950RCV003138429

NM_025074.7(FRAS1):c.4396G>C (p.Val1466Leu) SNV
Germline
Chr4:78413056 Conflicting classifications of pathogenicity Inborn genetic diseases
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2977179 rs_546764418

2 SubmittersRCV002788267RCV005036551

NM_025074.7(FRAS1):c.7286G>A (p.Arg2429Gln) SNV
Germline
Chr4:78470006 Conflicting classifications of pathogenicity Inborn genetic diseases
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2978049 rs_373084707

2 SubmittersRCV002961736RCV005036601

NM_207361.6(FREM2):c.2129G>A (p.Arg710His) SNV
Germline
Chr13:38689473 Conflicting classifications of pathogenicity Inborn genetic diseases
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6954548 rs_372166899

2 SubmittersRCV002965411RCV004725618

NM_025074.7(FRAS1):c.9589G>A (p.Val3197Ile) SNV
Germline
Chr4:78508815 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2978701 rs_780112704

3 SubmittersRCV002981840RCV003548935RCV005036610

NM_025074.7(FRAS1):c.7574G>A (p.Arg2525His) SNV
Germline
Chr4:78473489 Conflicting classifications of pathogenicity Inborn genetic diseases
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2978154 rs_771361328

2 SubmittersRCV002714423RCV005036623

NM_025074.7(FRAS1):c.2550C>T (p.Tyr850=) SNV
Germline
Chr4:78363640 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA439974718 rs_1363836483

2 SubmittersRCV003143402RCV003778882

NM_025074.7(FRAS1):c.5611A>G (p.Ile1871Val) SNV
Germline
Chr4:78441243 Conflicting classifications of pathogenicity Fraser syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA357389015 rs_1443276126

2 SubmittersRCV003143407RCV005335744

NM_025074.7(FRAS1):c.3957A>G (p.Gln1319=) SNV
Germline
Chr4:78387683 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
FRAS1-related disorder
Criteria Provided
Conflicting Classifications
CA2977050 rs_376270109

3 SubmittersRCV003143408RCV003561193RCV003936712

NM_025074.7(FRAS1):c.382C>T (p.Gln128Ter) SNV
Germline
Chr4:78252464 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357352122 rs_2476513684

1 SubmittersRCV003145709

NM_025074.7(FRAS1):c.3152-2A>G SNV
Germline
Chr4:78375737 Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA357374897 rs_1226253305

2 SubmittersRCV003153167RCV003778915

NM_207361.6(FREM2):c.4034A>G (p.Tyr1345Cys) SNV
Germline
Chr13:38691378 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Isolated cryptophthalmia
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA6954907 rs_146195006

3 SubmittersRCV003184180RCV003730433RCV005012795

NM_025074.7(FRAS1):c.13A>T (p.Lys5Ter) SNV
Germline
Chr4:78058022 Pathogenic/Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA357463371 rs_1282146892

2 SubmittersRCV003226852RCV003779819

NM_025074.7(FRAS1):c.604-1G>C SNV
Germline
Chr4:78265024 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357353616 rs_1212739356

1 SubmittersRCV003226853

NM_025074.7(FRAS1):c.4623C>A (p.Tyr1541Ter) SNV
Germline
Chr4:78421945 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357381393 rs_2477113430

1 SubmittersRCV003226855

NM_207361.6(FREM2):c.9407G>A (p.Arg3136Lys) SNV
Germline
Chr13:38880684 Conflicting classifications of pathogenicity Inborn genetic diseases
Isolated cryptophthalmia
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA6956374 rs_142012270

2 SubmittersRCV003260320RCV005012841

NM_001366722.1(GRIP1):c.2393C>T (p.Thr798Met) SNV
Germline
Chr12:66392379 Conflicting classifications of pathogenicity Inborn genetic diseases
Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6674138 rs_200363939

3 SubmittersRCV003276759RCV005012848RCV005626794

NM_207361.6(FREM2):c.2689C>T (p.Gln897Ter) SNV
Germline
Chr13:38690033 Pathogenic Fraser syndrome 2 No Assertion Criteria Provided
CA387889363 rs_764607184

1 SubmittersRCV003334335

NM_025074.7(FRAS1):c.3975+1G>C SNV
Germline
Chr4:78387702 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357377668 rs_2476965820

1 SubmittersRCV003387496

NM_025074.7(FRAS1):c.6888+1G>A SNV
Germline
Chr4:78464146 Likely pathogenic FRAS1-related disorder
Fraser syndrome 1
Criteria Provided
Single Submitter
CA357401651 rs_2477269322

2 SubmittersRCV003416818RCV005036781

NM_207361.6(FREM2):c.2149C>T (p.Gln717Ter) SNV
Germline
Chr13:38689493 Likely pathogenic FREM2-related disorder
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Multiple Submitters
No Conflicts
CA387888217 rs_1219155526

2 SubmittersRCV003391316RCV005012918

NM_025074.7(FRAS1):c.4618A>G (p.Met1540Val) SNV
Germline
Chr4:78421940 Conflicting classifications of pathogenicity Inborn genetic diseases
Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2977258 rs_745682499

3 SubmittersRCV004364596RCV005036798RCV003439358

NM_025074.7(FRAS1):c.5218-1G>T SNV
Germline
Chr4:78438569 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA357387484 rs_181224126

1 SubmittersRCV003486316

NM_025074.7(FRAS1):c.11274C>A (p.His3758Gln) SNV
Germline
Chr4:78537176 Conflicting classifications of pathogenicity not specified
FRAS1-related disorder
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2979181 rs_147719256

3 SubmittersRCV003490780RCV003980966RCV005036839

NM_025074.7(FRAS1):c.1072-1G>C SNV
Germline
Chr4:78281397 Likely pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA357365612 rs_1727323495

2 SubmittersRCV003579311RCV005036845

NM_025074.7(FRAS1):c.562C>T (p.Gln188Ter) SNV
Germline
Chr4:78255334 Pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA357352511 rs_2476518574

2 SubmittersRCV003563207RCV005220748

NM_025074.7(FRAS1):c.982-1G>A SNV
Germline
Chr4:78278654 Likely pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA357365213 rs_1727176227

2 SubmittersRCV003566783RCV005433417

NM_025074.7(FRAS1):c.9504+8G>T SNV
Germline
Chr4:78507616 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2697546783 rs_2475806399

2 SubmittersRCV003572126RCV005036904

NM_001366722.1(GRIP1):c.1710A>T (p.Gly570=) SNV
Germline
Chr12:66432606 Conflicting classifications of pathogenicity Fraser syndrome 3
Condition: not provided
Criteria Provided
Conflicting Classifications
CA480572491 rs_2500513293

2 SubmittersRCV005013081RCV003672899

NM_025074.7(FRAS1):c.11110C>T (p.Arg3704Ter) SNV
Germline
Chr4:78537012 Pathogenic/Likely pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA357398467 rs_1274650161

2 SubmittersRCV003669839RCV005047724

NM_025074.7(FRAS1):c.10930C>T (p.Leu3644=) SNV
Germline
Chr4:78534453 Conflicting classifications of pathogenicity Condition: not provided
FRAS1-related disorder
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2979107 rs_183729151

3 SubmittersRCV003679703RCV003901249RCV005047736

NM_001366722.1(GRIP1):c.1199-1G>A SNV
Germline
Chr12:66455565 Likely pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA6674439 rs_772813442

2 SubmittersRCV003677017RCV005240853

NM_001366722.1(GRIP1):c.419-11C>T SNV
Germline
Chr12:66529925 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 3
Criteria Provided
Conflicting Classifications
CA655116370 rs_2061387927

2 SubmittersRCV003695124RCV005013096

NM_025074.7(FRAS1):c.9447G>A (p.Thr3149=) SNV
Germline
Chr4:78507551 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2978664 rs_527718527

2 SubmittersRCV005047787RCV003701135

NM_025074.7(FRAS1):c.11554C>T (p.Arg3852Ter) SNV
Germline
Chr4:78540639 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2979255 rs_747708863

2 SubmittersRCV003724194RCV005036964

NM_025074.7(FRAS1):c.310-1G>A SNV
Germline
Chr4:78252391 Likely pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA357351961 rs_1353055740

2 SubmittersRCV003725996RCV005036991

NM_025074.7(FRAS1):c.1346G>A (p.Trp449Ter) SNV
Germline
Chr4:78284495 Pathogenic/Likely pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA357366267 rs_1167064690

2 SubmittersRCV003729284RCV005037006

NM_025074.7(FRAS1):c.11881C>T (p.Arg3961Trp) SNV
Germline
Chr4:78540966 Conflicting classifications of pathogenicity Condition: not provided
FRAS1-related disorder
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2979319 rs_200693022

3 SubmittersRCV003731761RCV004741698RCV005037010

NM_025074.7(FRAS1):c.8043G>A (p.Lys2681=) SNV
Germline
Chr4:78478006 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2978270 rs_373000760

2 SubmittersRCV003815882RCV005038523

NM_207361.6(FREM2):c.6780C>A (p.Val2260=) SNV
Germline
Chr13:38851723 Conflicting classifications of pathogenicity Condition: not provided
Isolated cryptophthalmia
Fraser syndrome 2
Criteria Provided
Conflicting Classifications
CA6955677 rs_369765588

2 SubmittersRCV003817608RCV005013213

NM_001366722.1(GRIP1):c.43C>T (p.Arg15Ter) SNV
Germline
Chr12:66678862 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 3
Criteria Provided
Conflicting Classifications
CA6674780 rs_138258055

2 SubmittersRCV003839169RCV005013231

NM_025074.7(FRAS1):c.501G>A (p.Gln167=) SNV
Germline
Chr4:78255273 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA99943307 rs_984997081

2 SubmittersRCV003838160RCV005038554

NM_025074.7(FRAS1):c.10695C>T (p.Phe3565=) SNV
Germline
Chr4:78522695 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2979049 rs_370549736

2 SubmittersRCV003840092RCV005038561

NM_025074.7(FRAS1):c.3563+1G>A SNV
Germline
Chr4:78379997 Pathogenic Condition: not provided
Fraser syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA2976943 rs_773677827

2 SubmittersRCV003842887RCV005040554

NM_025074.7(FRAS1):c.7912G>A (p.Val2638Met) SNV
Germline
Chr4:78477875 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2978248 rs_200710024

3 SubmittersRCV003830952RCV005038555RCV004366866

NM_025074.7(FRAS1):c.11754G>A (p.Leu3918=) SNV
Germline
Chr4:78540839 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA99968585 rs_900734076

2 SubmittersRCV003844825RCV005038576

NM_025074.7(FRAS1):c.6889-9C>G SNV
Germline
Chr4:78464434 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2977925 rs_753594918

2 SubmittersRCV003850585RCV005038580

NM_025074.7(FRAS1):c.9435G>A (p.Val3145=) SNV
Germline
Chr4:78507539 Conflicting classifications of pathogenicity Condition: not provided
FRAS1-related disorder
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA439981780 rs_1471784154

3 SubmittersRCV003844079RCV003939234RCV005038572

NM_025074.7(FRAS1):c.10428G>A (p.Val3476=) SNV
Germline
Chr4:78519369 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2978966 rs_768886770

2 SubmittersRCV003851393RCV005038585

NM_025074.7(FRAS1):c.7317G>C (p.Thr2439=) SNV
Germline
Chr4:78470037 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA439980977 rs_369764135

2 SubmittersRCV003857627RCV005038588

NM_025074.7(FRAS1):c.310-5C>T SNV
Germline
Chr4:78252387 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2975913 rs_781229199

2 SubmittersRCV003862093RCV005038598

NM_025074.7(FRAS1):c.450A>G (p.Pro150=) SNV
Germline
Chr4:78252532 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2975947 rs_774048847

2 SubmittersRCV003858956RCV005038584

NM_025074.7(FRAS1):c.423A>T (p.Ala141=) SNV
Germline
Chr4:78252505 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2975940 rs_781132265

2 SubmittersRCV003857357RCV005038587

NM_025074.7(FRAS1):c.9819G>A (p.Val3273=) SNV
Germline
Chr4:78511312 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA2978775 rs_543101195

2 SubmittersRCV003877745RCV005038605

NM_025074.7(FRAS1):c.11640C>T (p.Gly3880=) SNV
Germline
Chr4:78540725 Conflicting classifications of pathogenicity Condition: not provided
Fraser syndrome 1
Criteria Provided
Conflicting Classifications
CA99968539 rs_370738145

2 SubmittersRCV003882404RCV005038623

NM_025074.7(FRAS1):c.10540+3A>G SNV
Germline
Chr4:78519484 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter
CA2978985 rs_762051177

1 SubmittersRCV003986021

NM_207361.6(FREM2):c.5611G>A (p.Ala1871Thr) SNV
Germline
Chr13:38769778 Conflicting classifications of pathogenicity Inborn genetic diseases
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications
CA6955283 rs_542257246

2 SubmittersRCV004394663RCV005006379

NM_025074.7(FRAS1):c.4337G>A (p.Arg1446His) SNV
Germline
Chr4:78412997 Conflicting classifications of pathogenicity Inborn genetic diseases
Fraser syndrome 1
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004621350RCV005040724

NM_025074.7(FRAS1):c.6430A>G (p.Ile2144Val) SNV
Germline
Chr4:78450306 Conflicting classifications of pathogenicity Inborn genetic diseases
Fraser syndrome 1
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004621360RCV005040727

NM_025074.7(FRAS1):c.9525T>A (p.Tyr3175Ter) SNV
Germline
Chr4:78508751 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004789677

NM_025074.7(FRAS1):c.5746T>C (p.Tyr1916His) SNV
Germline
Chr4:78445602 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004821117

NM_207361.6(FREM2):c.2900A>G (p.Asn967Ser) SNV
Germline
Chr13:38690244 Conflicting classifications of pathogenicity Fraser syndrome 2
Isolated cryptophthalmia
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005006631RCV004980183RCV005110297

NM_207361.6(FREM2):c.5749G>A (p.Val1917Ile) SNV
Germline
Chr13:38783177 Conflicting classifications of pathogenicity Inborn genetic diseases
Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004980190RCV005006635

NM_207361.6(FREM2):c.748G>T (p.Glu250Ter) SNV
Germline
Chr13:38688092 Likely pathogenic Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Single Submitter

1 SubmittersRCV005013560

NM_001366722.1(GRIP1):c.1688-1G>C SNV
Germline
Chr12:66432629 Likely pathogenic Fraser syndrome 3 Criteria Provided
Single Submitter

1 SubmittersRCV005011546

NM_001366722.1(GRIP1):c.1279C>T (p.Arg427Ter) SNV
Germline
Chr12:66455484 Likely pathogenic Fraser syndrome 3 Criteria Provided
Single Submitter

1 SubmittersRCV005011550

NM_001366722.1(GRIP1):c.1199-2A>G SNV
Germline
Chr12:66455566 Likely pathogenic Fraser syndrome 3 Criteria Provided
Single Submitter

1 SubmittersRCV005011553

NM_001366722.1(GRIP1):c.206C>A (p.Ser69Ter) SNV
Germline
Chr12:66541881 Likely pathogenic Fraser syndrome 3 Criteria Provided
Single Submitter

1 SubmittersRCV005004984

NM_207361.6(FREM2):c.3167G>A (p.Trp1056Ter) SNV
Germline
Chr13:38690511 Likely pathogenic Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Single Submitter

1 SubmittersRCV005013638

NM_207361.6(FREM2):c.3342T>G (p.Tyr1114Ter) SNV
Germline
Chr13:38690686 Likely pathogenic Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Single Submitter

1 SubmittersRCV005013647

NM_207361.6(FREM2):c.3872C>T (p.Thr1291Met) SNV
Germline
Chr13:38691216 Conflicting classifications of pathogenicity Isolated cryptophthalmia
Fraser syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005013665RCV005336016

NM_207361.6(FREM2):c.6926-2A>T SNV
Germline
Chr13:38856124 Likely pathogenic Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Single Submitter

1 SubmittersRCV005006820

NM_207361.6(FREM2):c.7847T>A (p.Leu2616Ter) SNV
Germline
Chr13:38864470 Likely pathogenic Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Single Submitter

1 SubmittersRCV005006842

NM_207361.6(FREM2):c.8281+2T>G SNV
Germline
Chr13:38874588 Likely pathogenic Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Single Submitter

1 SubmittersRCV005006857

NM_207361.6(FREM2):c.8539C>T (p.Gln2847Ter) SNV
Germline
Chr13:38876377 Likely pathogenic Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Single Submitter

1 SubmittersRCV005006863

NM_207361.6(FREM2):c.8672-1G>C SNV
Germline
Chr13:38878133 Likely pathogenic Fraser syndrome 2
Isolated cryptophthalmia
Criteria Provided
Single Submitter

1 SubmittersRCV005006868

NM_025074.7(FRAS1):c.390C>A (p.Cys130Ter) SNV
Germline
Chr4:78252472 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039317

NM_025074.7(FRAS1):c.1071+1G>A SNV
Germline
Chr4:78278745 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039333

NM_025074.7(FRAS1):c.1133C>A (p.Pro378His) SNV
Germline
Chr4:78282845 Conflicting classifications of pathogenicity Fraser syndrome 1
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005040921RCV005112854

NM_025074.7(FRAS1):c.1253C>G (p.Ser418Ter) SNV
Germline
Chr4:78282965 Pathogenic/Likely pathogenic Fraser syndrome 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005040924RCV005112855

NM_025074.7(FRAS1):c.1336C>T (p.Gln446Ter) SNV
Germline
Chr4:78284485 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039344

NM_025074.7(FRAS1):c.1678+1G>C SNV
Germline
Chr4:78308210 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005040930

NM_025074.7(FRAS1):c.1678+1G>T SNV
Germline
Chr4:78308210 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039353

NM_025074.7(FRAS1):c.2722+1G>T SNV
Germline
Chr4:78364055 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039379

NM_025074.7(FRAS1):c.3292+2T>G SNV
Germline
Chr4:78375881 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039387

NM_025074.7(FRAS1):c.3616C>T (p.Gln1206Ter) SNV
Germline
Chr4:78384111 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005040943

NM_025074.7(FRAS1):c.4844-1G>A SNV
Germline
Chr4:78430291 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039411

NM_025074.7(FRAS1):c.6010+1G>T SNV
Germline
Chr4:78446881 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005040968

NM_025074.7(FRAS1):c.6262C>T (p.Gln2088Ter) SNV
Germline
Chr4:78448304 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039438

NM_025074.7(FRAS1):c.6889-2A>G SNV
Germline
Chr4:78464441 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039451

NM_025074.7(FRAS1):c.7371+1G>A SNV
Germline
Chr4:78470092 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039462

NM_025074.7(FRAS1):c.7519C>T (p.Gln2507Ter) SNV
Germline
Chr4:78472327 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039465

NM_025074.7(FRAS1):c.7655G>A (p.Trp2552Ter) SNV
Germline
Chr4:78473570 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005039467

NM_025074.7(FRAS1):c.8434G>T (p.Glu2812Ter) SNV
Germline
Chr4:78479709 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005032861

NM_025074.7(FRAS1):c.8958+1G>A SNV
Germline
Chr4:78489081 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005042981

NM_025074.7(FRAS1):c.9316+1G>A SNV
Germline
Chr4:78499922 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005032887

NM_025074.7(FRAS1):c.10830C>G (p.Tyr3610Ter) SNV
Germline
Chr4:78526562 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005043001

NM_025074.7(FRAS1):c.10858C>T (p.Gln3620Ter) SNV
Germline
Chr4:78526590 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005032923

NM_025074.7(FRAS1):c.11073C>A (p.Tyr3691Ter) SNV
Germline
Chr4:78534596 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005032926

NM_025074.7(FRAS1):c.11092+1G>A SNV
Germline
Chr4:78534616 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005032928

NM_025074.7(FRAS1):c.11960C>T (p.Thr3987Met) SNV
Germline
Chr4:78541045 Conflicting classifications of pathogenicity Fraser syndrome 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005032943RCV005336050

NM_025074.7(FRAS1):c.11446-1G>A SNV
Germline
Chr4:78540530 Conflicting classifications of pathogenicity Fraser syndrome 1
Cryptophthalmos syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005002107RCV005358177

NM_025074.7(FRAS1):c.9981C>A (p.Tyr3327Ter) SNV
Germline
Chr4:78511474 Pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005253536

NM_025074.7(FRAS1):c.11092+2T>C SNV
Germline
Chr4:78534617 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005412210

NM_025074.7(FRAS1):c.2138-1G>C SNV
Germline
Chr4:78333271 Likely pathogenic Fraser syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV005414393

NM_207361.6(FREM2):c.1912C>T (p.Arg638Ter) SNV
Germline
Chr13:38689256 Likely pathogenic Fraser syndrome 2 Criteria Provided
Single Submitter

1 SubmittersRCV005432215