A total 231 pathogenic variants reported in gene FRAS1 related extracellular matrix 2 (FREM2)  
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_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_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_207361.6(FREM2):c.8351G>A (p.Arg2784Lys) SNV
Germline
Chr13:38876091 Likely pathogenic Childhood-onset schizophrenia Criteria Provided
Single Submitter
CA279860 rs_863223346

1 SubmittersRCV000202338

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_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_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_207361.6(FREM2):c.9071A>G (p.Asn3024Ser) SNV
Germline
Chr13:38880348 Conflicting classifications of pathogenicity not specified
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6956303 rs_115149211

4 SubmittersRCV000271128RCV000873410RCV004021275

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_207361.6(FREM2):c.9009C>T (p.Val3003=) SNV
Germline
Chr13:38880286 Conflicting classifications of pathogenicity Condition: not provided
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6956292 rs_145657148

3 SubmittersRCV000346417RCV003957519

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_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_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_207361.6(FREM2):c.2754C>T (p.Val918=) SNV
Germline
Chr13:38690098 Conflicting classifications of pathogenicity not specified
Condition: not provided
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6954665 rs_140353326

5 SubmittersRCV000499789RCV000727075RCV004742454

NM_207361.6(FREM2):c.5263+1G>A SNV
Germline
Chr13:38697788 Likely pathogenic Condition: not provided Criteria Provided
Multiple Submitters
No Conflicts
CA387894923 rs_757243985

2 SubmittersRCV000578734

NM_207361.6(FREM2):c.7329T>A (p.Pro2443=) SNV
Germline
Chr13:38859400 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA483727452 rs_1303270704

2 SubmittersRCV000595047

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_207361.6(FREM2):c.6807G>A (p.Ser2269=) SNV
Germline
Chr13:38851750 Conflicting classifications of pathogenicity Condition: not provided
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6955682 rs_752080876

3 SubmittersRCV000594954RCV003900357

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_207361.6(FREM2):c.9113T>C (p.Val3038Ala) SNV
Germline
Chr13:38880390 Conflicting classifications of pathogenicity Condition: not provided
not specified
FREM2-related disorder
Criteria Provided
Conflicting Classifications
CA6956313 rs_114688149

4 SubmittersRCV000731495RCV001816801RCV003928234

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.5309G>A (p.Trp1770Ter) SNV
Germline
Chr13:38764349 Pathogenic Condition: not provided
Isolated cryptophthalmia
Criteria Provided
Single Submitter
CA387884378 rs_1566133616

2 SubmittersRCV003718285RCV000767224

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_207361.6(FREM2):c.3539C>G (p.Pro1180Arg) SNV
Germline
Chr13:38690883 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6954809 rs_139236965

3 SubmittersRCV000864313RCV004027622

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_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_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_207361.6(FREM2):c.3937G>T (p.Glu1313Ter) SNV
Germline
Chr13:38691281 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA6954886 rs_759421771

1 SubmittersRCV001090329

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_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_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_207361.6(FREM2):c.850G>C (p.Val284Leu) SNV
Germline
Chr13:38688194 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6954294 rs_770004356

3 SubmittersRCV001758283RCV002543953

NM_207361.6(FREM2):c.4396C>T (p.Arg1466Ter) SNV
Germline
Chr13:38691740 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387893043 rs_1333928954

1 SubmittersRCV001783316

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_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_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_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_207361.6(FREM2):c.2890A>G (p.Ile964Val) SNV
Germline
Chr13:38690234 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6954689 rs_550787922

2 SubmittersRCV003083050RCV003090566

NM_207361.6(FREM2):c.6728G>A (p.Arg2243Gln) SNV
Germline
Chr13:38851094 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA6955657 rs_773386433

2 SubmittersRCV002616607RCV002628288

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.6718A>G (p.Ile2240Val) SNV
Germline
Chr13:38851084 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6955653 rs_374734549

2 SubmittersRCV002632201RCV004069017

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_207361.6(FREM2):c.8533C>T (p.Arg2845Ter) SNV
Germline
Chr13:38876371 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA6956154 rs_371448296

1 SubmittersRCV002609633

NM_207361.6(FREM2):c.9415G>A (p.Glu3139Lys) SNV
Germline
Chr13:38880692 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6956376 rs_746196338

2 SubmittersRCV002622419RCV004066598

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_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_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_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_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_207361.6(FREM2):c.6925+1G>T SNV
Germline
Chr13:38851869 Likely pathogenic FREM2-related disorder Criteria Provided
Single Submitter
CA387897360 rs_2541489672

1 SubmittersRCV003397346

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_207361.6(FREM2):c.3691C>T (p.Gln1231Ter) SNV
Germline
Chr13:38691035 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387891520 rs_2541358709

1 SubmittersRCV003547509

NM_207361.6(FREM2):c.4501G>T (p.Glu1501Ter) SNV
Germline
Chr13:38691845 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387893262 rs_2541360961

1 SubmittersRCV003570341

NM_207361.6(FREM2):c.7057-1G>A SNV
Germline
Chr13:38857874 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387897802 rs_2541494253

1 SubmittersRCV003571921

NM_207361.6(FREM2):c.837G>A (p.Trp279Ter) SNV
Germline
Chr13:38688181 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387883032 rs_2541350517

1 SubmittersRCV003572098

NM_207361.6(FREM2):c.1675C>T (p.Gln559Ter) SNV
Germline
Chr13:38689019 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387886772 rs_1270636463

1 SubmittersRCV003567222

NM_207361.6(FREM2):c.6597C>A (p.Cys2199Ter) SNV
Germline
Chr13:38850963 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387896652 rs_755689589

1 SubmittersRCV003580669

NM_207361.6(FREM2):c.349C>T (p.Gln117Ter) SNV
Germline
Chr13:38687693 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387882045 rs_2541348375

1 SubmittersRCV003570327

NM_207361.6(FREM2):c.1231G>T (p.Glu411Ter) SNV
Germline
Chr13:38688575 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387885251 rs_1324418611

1 SubmittersRCV003666214

NM_207361.6(FREM2):c.5917G>T (p.Glu1973Ter) SNV
Germline
Chr13:38784706 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387886289 rs_747561441

1 SubmittersRCV003661610

NM_207361.6(FREM2):c.2425C>T (p.Arg809Ter) SNV
Germline
Chr13:38689769 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387888794 rs_761047751

1 SubmittersRCV003668386

NM_207361.6(FREM2):c.3589G>T (p.Glu1197Ter) SNV
Germline
Chr13:38690933 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387891301 rs_2541358394

1 SubmittersRCV003706366

NM_207361.6(FREM2):c.6784G>T (p.Glu2262Ter) SNV
Germline
Chr13:38851727 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387897066 rs_2541489493

1 SubmittersRCV003714263

NM_207361.6(FREM2):c.4114C>T (p.Gln1372Ter) SNV
Germline
Chr13:38691458 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387892439 rs_1431811994

1 SubmittersRCV003723450

NM_207361.6(FREM2):c.6964G>T (p.Glu2322Ter) SNV
Germline
Chr13:38856164 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387897458 rs_2541492816

1 SubmittersRCV003695055

NM_207361.6(FREM2):c.8544+2T>C SNV
Germline
Chr13:38876384 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387906310 rs_2541507566

1 SubmittersRCV003705619

NM_207361.6(FREM2):c.6806C>A (p.Ser2269Ter) SNV
Germline
Chr13:38851749 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA387897114 rs_148249231

1 SubmittersRCV003696895

NM_207361.6(FREM2):c.3931G>T (p.Gly1311Ter) SNV
Germline
Chr13:38691275 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA6954884 rs_770735132

1 SubmittersRCV003706941

NM_207361.6(FREM2):c.8409+1G>A SNV
Germline
Chr13:38876150 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA248319173 rs_989161115

1 SubmittersRCV003707317

NM_207361.6(FREM2):c.2392C>T (p.Arg798Ter) SNV
Germline
Chr13:38689736 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA248289333 rs_922421314

1 SubmittersRCV003729809

NM_207361.6(FREM2):c.6646C>T (p.Arg2216Cys) SNV
Germline
Chr13:38851012 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA6955638 rs_555093522

2 SubmittersRCV003811274RCV005567656

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_207361.6(FREM2):c.3484C>T (p.Arg1162Ter) SNV
Germline
Chr13:38690828 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA6954798 rs_761934962

1 SubmittersRCV003868561

NM_207361.6(FREM2):c.1928G>A (p.Trp643Ter) SNV
Germline
Chr13:38689272 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA248287949 rs_897320496

1 SubmittersRCV003868667

NM_207361.6(FREM2):c.2059C>T (p.Gln687Ter) SNV
Germline
Chr13:38689403 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA6954527 rs_376233583

1 SubmittersRCV003879593

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_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_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_207361.6(FREM2):c.5283C>A (p.Tyr1761Ter) SNV
Germline
Chr13:38764323 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005114589

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

1 SubmittersRCV005432215