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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Syndactyly (D013576)
Parent Node: Urogenital Abnormalities (D014564)
..Starting node ..Fraser Syndrome (D058497)
Child Nodes:
Sister Nodes:
..Allanson Pantzar McLeod syndrome (C537048) 1
..ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bladder Exstrophy (D001746) 1
..Blepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
..Cakut (C566906)
..Calabro syndrome (C537960)
..Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..Cryptorchidism (D003456) 12
..Disorders of Sex Development (D012734) 107
..DK Phocomelia Syndrome (C565618)
..Duker Weiss Siber syndrome (C535719)
..Epispadias (D004842) 1
..Fraser Syndrome (D058497)
..Fused Kidney (D000069337)
..Genitopatellar Syndrome (C565255)
..Genitourinary Tract Anomalies (C564424)
..Hand foot uterus syndrome (C535627)
..Hemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..Hypospadias (D007021) 17
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Lissencephaly, X-Linked, 2 (C564563)
..Microcephaly seizures genital hypoplasia (C537540)
..Microphthalmia, Syndromic 6 (C566440)
..MIRAGE SYNDROME (OMIM:617053)
..Multicystic Dysplastic Kidney (D021782) 2
..Myotubular Myopathy with Abnormal Genital Development (C564561)
..Nephritis, Hereditary (D009394) 11
..Nephrosis deafness urinary tract digital malformation (C536402)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Omphalocele exstrophy imperforate anus (C537748)
..Piepkorn Karp Hickok syndrome (C535774)
..Popliteal Pterygium Syndrome (C562509)
..Proud Syndrome (C563110)
..Pyelectasis (D058536)
..Renal Adysplasia (C563261)
..Renal dysplasia - limb defects syndrome (C537754)
..Renal, Genital, and Middle Ear Anomalies (C564849)
..Retrocaval Ureter (D064749)
..Robinow Syndrome, Autosomal Dominant (C562492)
..Rosselli-Gulienetti Syndrome (C563117)
..Solitary Kidney (D000075529)
..Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..Ureter, Bifid Or Double (C566012)
..Urinary Fistula (D014548) 2
..Uterine Anomalies (C562565)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4863

Name:

Fraser Syndrome

Definition:

Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.

Alternative IDs:

DO:DOID:0090001|OMIM:219000

ParentIDs:

MESH:D000015|MESH:D005124|MESH:D013576|MESH:D014564

TreeNumbers:

C05.116.099.370.894.819.428 |C05.660.585.800.428 |C05.660.906.819.428 |C11.250.390 |C12.706.410 |C13.351.875.397 |C16.131.077.371 |C16.131.384.442 |C16.131.621.585.800.428 |C16.131.621.906.819.428 |C16.131.939.410

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: D058497
MeSH: D058497
OMIM: 219000;
MSeqDR :
Genes: FRAS1; FREM2; GRIP1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002536	Abnormal cortical gyration
3	HP:0001627	Abnormal heart morphology
4	HP:0004378	Abnormality of the anus
5	HP:0000377	Abnormality of the pinna
6	HP:0002244	Abnormality of the small intestine
7	HP:0000777	Abnormality of the thymus
8	HP:0001551	Abnormality of the umbilicus
9	HP:0002223	Absent eyebrow
10	HP:0000561	Absent eyelashes
11	HP:0000528	Anophthalmia
12	HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand
13	HP:0006714	Aplasia/Hypoplasia of the sternum
14	HP:0009601	Aplasia/Hypoplasia of the thumb
15	HP:0000413	Atresia of the external auditory canal
16	HP:0000813	Bicornuate uterus
17	HP:0007633	Bilateral microphthalmos
18	HP:0000618	Blindness
19	HP:0001362	Calvarial skull defect
20	HP:0000452	Choanal stenosis
21	HP:0003191	Cleft ala nasi
22	HP:0000175	Cleft palate
23	HP:0000204	Cleft upper lip
24	HP:0008665	Clitoral hypertrophy
25	HP:0000405	Conductive hearing impairment
26	HP:0007957	Corneal opacity
27	HP:0001126	Cryptophthalmos
28	HP:0000028	Cryptorchidism
29	HP:0000378	Cupped ear
30	HP:0010554	Cutaneous finger syndactyly
31	HP:0000678	Dental crowding
32	HP:0000689	Dental malocclusion
33	HP:0005280	Depressed nasal bridge
34	HP:0000183	Difficulty in tongue movements
35	HP:0002084	Encephalocele
36	HP:0005325	Extension of hair growth on temples to lateral eyebrow
37	HP:0002006	Facial cleft
38	HP:0000238	Hydrocephalus
39	HP:0000316	Hypertelorism
40	HP:0008559	Hypoplastic superior helix
41	HP:0000047	Hypospadias
42	HP:0001249	Intellectual disability
43	HP:0007925	Lacrimal duct aplasia
44	HP:0008750	Laryngeal atresia
45	HP:0001602	Laryngeal stenosis
46	HP:0005950	Laryngeal web
47	HP:0000369	Low-set ears
48	HP:0007993	Malformed lacrimal ducts
49	HP:0000252	Microcephaly
50	HP:0000054	Micropenis
51	HP:0004112	Midline nasal groove
52	HP:0008609	Morphological abnormality of the middle ear
53	HP:0002475	Myelomeningocele
54	HP:0002089	Pulmonary hypoplasia
55	HP:0000089	Renal hypoplasia
56	HP:0008678	Renal hypoplasia/aplasia
57	HP:0005352	Severe T-cell immunodeficiency
58	HP:0001607	Subglottic stenosis
59	HP:0000430	Underdeveloped nasal alae
60	HP:0000636	Upper eyelid coloboma
61	HP:0000148	Vaginal atresia
62	HP:0006610	Wide intermamillary distance
63	HP:0000431	Wide nasal bridge
64	HP:0000445	Wide nose
65	HP:0003183	Wide pubic symphysis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_025074.7(FRAS1):c.-422C>G	80144	FRAS1	Uncertain significance	rs886059622	RCV000261189;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78978742	78978742	C	G	NC_000004.11:g.78978742C>G	ClinGen:CA10618270	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-257G>T	80144	FRAS1	Benign	rs78363185	RCV000318768;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78978907	78978907	G	T	4:g.78978907G>T	ClinGen:CA10619218	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-245C>G	80144	FRAS1	Uncertain significance	rs886059623	RCV000385592;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78978919	78978919	C	G	4:g.78978919C>G	ClinGen:CA10618277	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-233A>T	80144	FRAS1	Uncertain significance	rs566584457	RCV001156614;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78978931	78978931	A	T	4:g.78978931A>T	-
NM_025074.7(FRAS1):c.-188C>T	80144	FRAS1	Uncertain significance	rs886059624	RCV000293567;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78978976	78978976	C	T	NC_000004.11:g.78978976C>T	ClinGen:CA10618278	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-185G>T	80144	FRAS1	Uncertain significance	rs559206528	RCV000350769;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78978979	78978979	G	T	NC_000004.11:g.78978979G>T	ClinGen:CA10621693	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-65T>C	80144	FRAS1	Benign	rs6832285	RCV000388974;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78979099	78979099	T	C	NC_000004.11:g.78979099T>C	ClinGen:CA10619219	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-23C>T	80144	FRAS1	Benign	rs34237418	RCV000287519;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78979141	78979141	C	T	NC_000004.11:g.78979141C>T	ClinGen:CA2975755	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-18G>T	80144	FRAS1	Uncertain significance	rs750662462	RCV000344884;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78979146	78979146	G	T	NC_000004.11:g.78979146G>T	ClinGen:CA2975757	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.47A>C (p.Glu16Ala)	80144	FRAS1	Uncertain significance	rs554995505	RCV001156615;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78979210	78979210	A	C	4:g.78979210A>C	-
NM_025074.7(FRAS1):c.76+5G>A	80144	FRAS1	Uncertain significance	rs886059625	RCV000389965;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78979244	78979244	G	A	NC_000004.11:g.78979244G>A	ClinGen:CA10618288	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.77-9T>C	80144	FRAS1	Uncertain significance	rs1740016134	RCV001151139;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	78987130	78987130	T	C	4:g.78987130T>C	-
NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly)	80144	FRAS1	Benign	rs4859905	RCV000251438\|RCV000309845\|RCV002058356;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	78987157	78987157	A	G	NC_000004.11:g.78987157A>G	ClinGen:CA2975818	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.108+2546T>C	80144	FRAS1	Benign	rs10008489	RCV000601466\|RCV001702690;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374	4	78989716	78989716	T	C	NC_000004.11:g.78989716T>C	ClinGen:CA2975833	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.118A>C (p.Ile40Leu)	80144	FRAS1	Uncertain significance	rs751533644	RCV001151140;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79158673	79158673	A	C	4:g.79158673A>C	-
NM_025074.7(FRAS1):c.160G>C (p.Asp54His)	80144	FRAS1	Benign	rs17003071	RCV000339420\|RCV001702623\|RCV002057952;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374\|MedGen:CN517202	4	79158715	79158715	G	C	NC_000004.11:g.79158715G>C	ClinGen:CA2975849	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.195C>T (p.Asn65=)	80144	FRAS1	Uncertain significance	rs200429476	RCV000407938;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79158750	79158750	C	T	NC_000004.11:g.79158750C>T	ClinGen:CA2975857	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.201A>G (p.Gln67=)	80144	FRAS1	Benign/Likely benign	rs117876433	RCV000304412\|RCV000864877;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79158756	79158756	A	G	NC_000004.11:g.79158756A>G	ClinGen:CA2975859	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.227T>G (p.Leu76Arg)	80144	FRAS1	Uncertain significance	rs199745197	RCV000361503;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79166397	79166397	T	G	NC_000004.11:g.79166397T>G	ClinGen:CA2975879	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.237T>C (p.Ala79=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs370345916	RCV000178368\|RCV000259756;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79166407	79166407	T	C	4:g.79166407T>C	ClinGen:CA245447	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.285C>A (p.Cys95Ter)	80144	FRAS1	Pathogenic	rs1725182255	RCV001172405;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79166455	79166455	C	A	4:g.79166455C>A	-
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val)	80144	FRAS1	Benign	rs78711748	RCV000298543\|RCV001573264\|RCV001702624;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79166478	79166478	A	T	NC_000004.11:g.79166478A>T	ClinGen:CA2975888	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.364del (p.Glu122fs)	80144	FRAS1	Pathogenic	-1	RCV001536002;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79173597	79173597	TG	T	79173596	-
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)	80144	FRAS1	Pathogenic	rs377046630	RCV000178998\|RCV001172407;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79173606	79173606	C	T	4:g.79173606C>T	ClinGen:CA203126	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.371G>A (p.Arg124Gln)	80144	FRAS1	Uncertain significance	rs200764508	RCV001154209;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79173607	79173607	G	A	4:g.79173607G>A	-
NM_025074.7(FRAS1):c.380C>G (p.Pro127Arg)	80144	FRAS1	Benign	rs147709711	RCV000355670\|RCV001702009\|RCV002057953;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374\|MedGen:CN517202	4	79173616	79173616	C	G	NC_000004.11:g.79173616C>G	ClinGen:CA2975924	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.384A>G (p.Gln128=)	80144	FRAS1	Uncertain significance	rs566690413	RCV001154210;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79173620	79173620	A	G	4:g.79173620A>G	-
NM_025074.7(FRAS1):c.395C>T (p.Pro132Leu)	80144	FRAS1	Uncertain significance	rs376122558	RCV000263222\|RCV001753822;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79173631	79173631	C	T	NC_000004.11:g.79173631C>T	ClinGen:CA2975933	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.446G>A (p.Cys149Tyr)	80144	FRAS1	Uncertain significance	rs769003850	RCV001154211;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79173682	79173682	G	A	4:g.79173682G>A	-
NM_025074.7(FRAS1):c.470-35T>C	80144	FRAS1	Benign	-1	RCV001702332;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79176361	79176361	T	C	79176361	-
NM_025074.7(FRAS1):c.470-4C>G	80144	FRAS1	Benign	rs59429199	RCV000330254\|RCV000864282;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79176392	79176392	C	G	NC_000004.11:g.79176392C>G	ClinGen:CA2975971	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.516G>A (p.Trp172Ter)	80144	FRAS1	Pathogenic	rs1432850828	RCV000790410;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79176442	79176442	G	A	4:g.79176442G>A	-
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln)	80144	FRAS1	Benign	rs147332320	RCV000387133\|RCV001573211\|RCV001702625;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79176444	79176444	G	A	NC_000004.11:g.79176444G>A	ClinGen:CA2975977	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.524G>A (p.Ser175Asn)	80144	FRAS1	Uncertain significance	rs772288910	RCV000276392\|RCV001861240;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79176450	79176450	G	A	NC_000004.11:g.79176450G>A	ClinGen:CA2975979	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.527G>A (p.Arg176Gln)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs183328334	RCV001155052\|RCV001573104;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79176453	79176453	G	A	4:g.79176453G>A	-
NM_025074.7(FRAS1):c.547A>T (p.Arg183Ter)	80144	FRAS1	Pathogenic	-1	RCV001376125;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79176473	79176473	A	T	79176473	-
NM_025074.7(FRAS1):c.570_573dup (p.Ala192fs)	80144	FRAS1	Pathogenic	rs1725743022	RCV001172411;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79176495	79176496	T	TCACA	4:g.79176495_79176496insCACA	-
NM_025074.7(FRAS1):c.585G>T (p.Gln195His)	80144	FRAS1	Uncertain significance	rs930940115	RCV001155053;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79176511	79176511	G	T	4:g.79176511G>T	-
NM_025074.7(FRAS1):c.604-132G>A	80144	FRAS1	Benign	rs6856362	RCV000606403\|RCV001703214;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374	4	79186047	79186047	G	A	4:g.79186047G>A	ClinGen:CA2976006	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.604-11T>A	80144	FRAS1	Uncertain significance	rs886059626	RCV000333777;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79186168	79186168	T	A	NC_000004.11:g.79186168T>A	ClinGen:CA10618294	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.604-8G>A	80144	FRAS1	Benign	rs2867014	RCV000252006\|RCV000381460\|RCV002058348;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79186171	79186171	G	A	NC_000004.11:g.79186171G>A	ClinGen:CA2976022	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.619C>T (p.Arg207Ter)	80144	FRAS1	Pathogenic	rs748696533	RCV001172414;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79186194	79186194	C	T	4:g.79186194C>T	-
NM_025074.7(FRAS1):c.625C>T (p.Pro209Ser)	80144	FRAS1	Benign	rs7699637	RCV000289381\|RCV000864283;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79186200	79186200	C	T	NC_000004.11:g.79186200C>T	ClinGen:CA2976028	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs200053639	RCV000346722\|RCV000598265;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79186216	79186216	C	T	NC_000004.11:g.79186216C>T	ClinGen:CA2976030	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.667G>A (p.Ala223Thr)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs200123398	RCV000384983\|RCV000875699;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79186242	79186242	G	A	NC_000004.11:g.79186242G>A	ClinGen:CA2976033	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.682T>C (p.Tyr228His)	80144	FRAS1	Benign	rs7682296	RCV000281855\|RCV000864284;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79186257	79186257	T	C	NC_000004.11:g.79186257T>C	ClinGen:CA2976037	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.688-13T>C	80144	FRAS1	Benign	rs144657066	RCV000336829\|RCV002057954;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79187975	79187975	T	C	NC_000004.11:g.79187975T>C	ClinGen:CA2976051	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.688-5T>G	80144	FRAS1	Pathogenic	rs775548230	RCV001172413;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79187983	79187983	T	G	4:g.79187983T>G	-
NM_025074.7(FRAS1):c.706G>A (p.Glu236Lys)	80144	FRAS1	Uncertain significance	rs373994193	RCV000400860\|RCV001850855;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79188006	79188006	G	A	NC_000004.11:g.79188006G>A	ClinGen:CA2976056	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.727A>G (p.Ile243Val)	80144	FRAS1	Benign	rs6848030	RCV000297027\|RCV000864601;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79188027	79188027	A	G	NC_000004.11:g.79188027A>G	ClinGen:CA2976060	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.763G>A (p.Ala255Thr)	80144	FRAS1	Uncertain significance	rs886059627	RCV000342487;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79188063	79188063	G	A	NC_000004.11:g.79188063G>A	ClinGen:CA10621701	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)	80144	FRAS1	Benign/Likely benign	rs148509395	RCV000180373\|RCV000514095\|RCV001156714\|RCV001258255;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472, Orphanet:231178, Orphanet:886	4	79188076	79188076	T	G	4:g.79188076T>G	ClinGen:CA203673	CN517202 not provided;
NM_025074.7(FRAS1):c.784G>A (p.Gly262Arg)	80144	FRAS1	Uncertain significance	rs576372683	RCV001330028;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79188084	79188084	G	A	79188084	-
NM_025074.7(FRAS1):c.789+12T>G	80144	FRAS1	Benign	rs142206350	RCV001151263\|RCV002070831;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79188101	79188101	T	G	4:g.79188101T>G	-
NM_025074.7(FRAS1):c.809G>A (p.Arg270His)	80144	FRAS1	Uncertain significance	rs374688692	RCV001151264;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79188414	79188414	G	A	4:g.79188414G>A	-
NM_025074.7(FRAS1):c.826G>A (p.Glu276Lys)	80144	FRAS1	Uncertain significance	rs886059628	RCV000402290;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79188431	79188431	G	A	NC_000004.11:g.79188431G>A	ClinGen:CA10619240	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.856T>A (p.Ser286Thr)	80144	FRAS1	Uncertain significance	rs189205642	RCV001151265\|RCV002032395;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79188461	79188461	T	A	4:g.79188461T>A	-
NM_025074.7(FRAS1):c.885C>T (p.Asp295=)	80144	FRAS1	Uncertain significance	rs562224966	RCV001151266;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79188490	79188490	C	T	4:g.79188490C>T	-
NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys)	80144	FRAS1	Uncertain significance	rs186811333	RCV000302837\|RCV001850856;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79188491	79188491	G	A	NC_000004.11:g.79188491G>A	ClinGen:CA2976109	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.903G>A (p.Ser301=)	80144	FRAS1	Uncertain significance	rs373613705	RCV001151267;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79188508	79188508	G	A	4:g.79188508G>A	-
NM_025074.7(FRAS1):c.969G>A (p.Val323=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs377333036	RCV000311638\|RCV000357606;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79188574	79188574	G	A	4:g.79188574G>A	ClinGen:CA2976122	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp)	80144	FRAS1	Benign	rs61999335	RCV000272027\|RCV001701864\|RCV001572888;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374\|MedGen:CN517202	4	79188584	79188584	C	T	NC_000004.11:g.79188584C>T	ClinGen:CA2976124	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.981+9C>T	80144	FRAS1	Benign	rs112081709	RCV000308483\|RCV002057955;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79188595	79188595	C	T	NC_000004.11:g.79188595C>T	ClinGen:CA2976127	C0265233 219000 Cryptophthalmos syndrome;
NC_000004.12:g.78268671_78298757del	80144	FRAS1	Pathogenic	-1	RCV001172409;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79189825	79219911	na	na	-1	-
NM_025074.7(FRAS1):c.1072-5C>T	80144	FRAS1	Benign	rs570183677	RCV001154325\|RCV002070885;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79202547	79202547	C	T	4:g.79202547C>T	-
NM_025074.7(FRAS1):c.1087A>G (p.Ser363Gly)	80144	FRAS1	Uncertain significance	rs1404338156	RCV001154326;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79202567	79202567	A	G	4:g.79202567A>G	-
NM_025074.7(FRAS1):c.1121G>A (p.Trp374Ter)	80144	FRAS1	Pathogenic	rs1727394990	RCV001172419;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79203987	79203987	G	A	4:g.79203987G>A	-
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter)	80144	FRAS1	Pathogenic	rs775259788	RCV001172416;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79204019	79204019	C	T	4:g.79204019C>T	-
NM_025074.7(FRAS1):c.1186T>C (p.Cys396Arg)	80144	FRAS1	Uncertain significance	rs138103912	RCV001154327;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79204052	79204052	T	C	4:g.79204052T>C	-
NM_025074.7(FRAS1):c.1226dup (p.Gln411fs)	80144	FRAS1	Likely pathogenic	rs1727403682	RCV001283840;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79204090	79204091	G	GA	79204090	-
NM_025074.7(FRAS1):c.1250C>T (p.Thr417Ile)	80144	FRAS1	Uncertain significance	rs1727405834	RCV001154328;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79204116	79204116	C	T	4:g.79204116C>T	-
NM_025074.7(FRAS1):c.1255+10T>C	80144	FRAS1	Benign/Likely benign	rs540508144	RCV000899770\|RCV001154329;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79204131	79204131	T	C	4:g.79204131T>C	-
NM_025074.7(FRAS1):c.1256-12C>T	80144	FRAS1	Uncertain significance	rs370606261	RCV000363207;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79205547	79205547	C	T	NC_000004.11:g.79205547C>T	ClinGen:CA2976241	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1270G>C (p.Asp424His)	80144	FRAS1	Uncertain significance	rs775737013	RCV001155161;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79205573	79205573	G	C	4:g.79205573G>C	-
NM_025074.7(FRAS1):c.1286C>A (p.Ser429Tyr)	80144	FRAS1	Benign	rs6838959	RCV000277768\|RCV000864602;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79205589	79205589	C	A	4:g.79205589C>A	ClinGen:CA2976248	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1371T>C (p.Gly457=)	80144	FRAS1	Uncertain significance	rs746772122	RCV001155162;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79205674	79205674	T	C	4:g.79205674T>C	-
NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile)	80144	FRAS1	Benign	rs12504081	RCV000243148\|RCV000333069\|RCV001660349;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79205699	79205699	T	A	NC_000004.11:g.79205699T>A	ClinGen:CA2976263	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1399+1G>A	80144	FRAS1	Pathogenic	rs1727490024	RCV001172421;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79205703	79205703	G	A	4:g.79205703G>A	-
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=)	80144	FRAS1	Benign	rs35690113	RCV000369014\|RCV000865158;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79207575	79207575	C	T	4:g.79207575C>T	ClinGen:CA2976303	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1486G>T (p.Val496Leu)	80144	FRAS1	Uncertain significance	rs201490843	RCV000274361;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79207645	79207645	G	T	4:g.79207645G>T	ClinGen:CA2976313	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1528T>C (p.Cys510Arg)	80144	FRAS1	Uncertain significance	rs141063284	RCV001155163;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79207687	79207687	T	C	4:g.79207687T>C	-
NM_025074.7(FRAS1):c.1598A>T (p.Asp533Val)	80144	FRAS1	Uncertain significance	rs886059629	RCV000320115;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79229283	79229283	A	T	4:g.79229283A>T	ClinGen:CA10621704	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1609G>A (p.Val537Met)	80144	FRAS1	Uncertain significance	rs367598897	RCV000374408\|RCV001861241;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79229294	79229294	G	A	4:g.79229294G>A	ClinGen:CA2976362	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1617A>G (p.Arg539=)	80144	FRAS1	Benign	rs345528	RCV000279819\|RCV002061247;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79229302	79229302	A	G	4:g.79229302A>G	ClinGen:CA2976366	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=)	80144	FRAS1	Benign/Likely benign	rs528765554	RCV000316325\|RCV000591566\|RCV000873307;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374\|MedGen:CN517202	4	79229320	79229320	C	T	4:g.79229320C>T	ClinGen:CA2976378	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1650C>A (p.Gly550=)	80144	FRAS1	Uncertain significance	rs1728870513	RCV001156814;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79229335	79229335	C	A	4:g.79229335C>A	-
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=)	80144	FRAS1	Benign	rs17003124	RCV000380193\|RCV000873267\|RCV001821069;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79236779	79236779	C	T	4:g.79236779C>T	ClinGen:CA2976413	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1722G>T (p.Arg574Ser)	80144	FRAS1	Uncertain significance	rs886059630	RCV000285883;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79236791	79236791	G	T	4:g.79236791G>T	ClinGen:CA10621724	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1766G>A (p.Cys589Tyr)	80144	FRAS1	Uncertain significance	rs1729214191	RCV001172422;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79236835	79236835	G	A	4:g.79236835G>A	-
NM_025074.7(FRAS1):c.1769T>C (p.Met590Thr)	80144	FRAS1	Benign/Likely benign	rs35030041	RCV000224361\|RCV000340861;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79236838	79236838	T	C	4:g.79236838T>C	ClinGen:CA2976422	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs149843493	RCV000398678\|RCV001355917;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79236852	79236852	G	A	4:g.79236852G>A	ClinGen:CA2976424	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1796C>T (p.Ala599Val)	80144	FRAS1	Uncertain significance	rs368186922	RCV001151395;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79236865	79236865	C	T	4:g.79236865C>T	-
NM_025074.7(FRAS1):c.1810A>G (p.Arg604Gly)	80144	FRAS1	Uncertain significance	rs1729217009	RCV001330025;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79236879	79236879	A	G	79236879	-
NM_025074.7(FRAS1):c.1820-11C>T	80144	FRAS1	Uncertain significance	rs117925872	RCV000346162;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79238511	79238511	C	T	4:g.79238511C>T	ClinGen:CA2976457	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1820-11C>G	80144	FRAS1	Benign/Likely benign	rs117925872	RCV000291844\|RCV002057956;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79238511	79238511	C	G	4:g.79238511C>G	ClinGen:CA2976456	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1848T>C (p.Ser616=)	80144	FRAS1	Uncertain significance	rs878902352	RCV000399519;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79238550	79238550	T	C	4:g.79238550T>C	ClinGen:CA10619244	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1885C>G (p.Pro629Ala)	80144	FRAS1	Uncertain significance	rs765144262	RCV000306376;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79238587	79238587	C	G	4:g.79238587C>G	ClinGen:CA2976471	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1905C>T (p.Gly635=)	80144	FRAS1	Uncertain significance	rs1406270521	RCV001151396;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79238607	79238607	C	T	4:g.79238607C>T	-
NM_025074.7(FRAS1):c.1914G>A (p.Leu638=)	80144	FRAS1	Uncertain significance	rs778155926	RCV000370427;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79238616	79238616	G	A	4:g.79238616G>A	ClinGen:CA2976483	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs147869493	RCV001151397\|RCV001171737;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79238620	79238620	C	T	4:g.79238620C>T	-
NM_025074.7(FRAS1):c.1947T>C (p.His649=)	80144	FRAS1	Benign	rs345514	RCV000175235\|RCV000407507\|RCV001610486;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79238649	79238649	T	C	4:g.79238649T>C	ClinGen:CA201354	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter)	80144	FRAS1	Pathogenic	rs1338479649	RCV001172424;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79240013	79240013	T	A	4:g.79240013T>A	-
NM_025074.7(FRAS1):c.2027C>T (p.Pro676Leu)	80144	FRAS1	Uncertain significance	rs202043019	RCV000494487\|RCV001154421;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79240030	79240030	C	T	4:g.79240030C>T	ClinGen:CA2976533	CN169374 not specified;
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly)	80144	FRAS1	Benign	rs345513	RCV000252679\|RCV000312084\|RCV001683115;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79240063	79240063	A	G	NC_000004.11:g.79240063A>G	ClinGen:CA2976538	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2128A>C (p.Ile710Leu)	80144	FRAS1	Benign	rs345512	RCV000366872\|RCV002057957;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79240131	79240131	A	C	NC_000004.11:g.79240131A>C	ClinGen:CA2976553	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2132G>A (p.Cys711Tyr)	80144	FRAS1	Uncertain significance	rs201740573	RCV000262864;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79240135	79240135	G	A	NC_000004.11:g.79240135G>A	ClinGen:CA2976555	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2137G>C (p.Ala713Pro)	80144	FRAS1	Uncertain significance	rs369605412	RCV000318364;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79240140	79240140	G	C	NC_000004.11:g.79240140G>C	ClinGen:CA2976556	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2313G>T (p.Pro771=)	80144	FRAS1	Benign	rs396790	RCV000354533\|RCV002057958;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79258862	79258862	G	T	NC_000004.11:g.79258862G>T	ClinGen:CA2976611	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2328C>T (p.Cys776=)	80144	FRAS1	Uncertain significance	rs776037240	RCV000259530;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79258877	79258877	C	T	NC_000004.11:g.79258877C>T	ClinGen:CA2976614	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2345A>T (p.His782Leu)	80144	FRAS1	Uncertain significance	rs200056545	RCV001155257;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79258894	79258894	A	T	4:g.79258894A>T	-
NM_025074.7(FRAS1):c.2357_2360del (p.Thr786fs)	80144	FRAS1	Pathogenic	-1	RCV001783309;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79258905	79258908	TACCA	T	79258904	-
NM_025074.7(FRAS1):c.2375C>A (p.Thr792Asn)	80144	FRAS1	Uncertain significance	rs1037965937	RCV001155258;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79258924	79258924	C	A	4:g.79258924C>A	-
NM_025074.7(FRAS1):c.2433C>T (p.His811=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs756276943	RCV000324069\|RCV002061248;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79284677	79284677	C	T	NC_000004.11:g.79284677C>T	ClinGen:CA2976654	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val)	80144	FRAS1	Benign/Likely benign	rs6835769	RCV000242783\|RCV000378902\|RCV002058347;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79284694	79284694	C	T	NC_000004.11:g.79284694C>T	ClinGen:CA2976656	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2570G>T (p.Cys857Phe)	80144	FRAS1	Pathogenic	-1	RCV001376124;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79284814	79284814	G	T	79284814	-
NM_025074.7(FRAS1):c.2575+15G>A	80144	FRAS1	Benign	rs79624813	RCV000284463\|RCV002057959;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79284834	79284834	G	A	NC_000004.11:g.79284834G>A	ClinGen:CA2976674	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2598C>T (p.Thr866=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs149802708	RCV000320715\|RCV000877523;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79285084	79285084	C	T	NC_000004.11:g.79285084C>T	ClinGen:CA2976692	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2647G>A (p.Val883Met)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs377068014	RCV000871923\|RCV001155259;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79285133	79285133	G	A	4:g.79285133G>A	-
NM_025074.7(FRAS1):c.2660C>G (p.Thr887Ser)	80144	FRAS1	Benign	rs74510691	RCV000384636\|RCV000870651;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79285146	79285146	C	G	NC_000004.11:g.79285146C>G	ClinGen:CA2976709	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2692del (p.His898fs)	80144	FRAS1	Pathogenic	-1	RCV001783311;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79285178	79285178	GC	G	79285177	-
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)	80144	FRAS1	Pathogenic/Likely pathogenic	rs755750961	RCV000500822\|RCV000760330;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79285205	79285205	C	T	NC_000004.11:g.79285205C>T	ClinGen:CA2976718	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2722+1G>A	80144	FRAS1	Pathogenic	rs794727365	RCV000224135\|RCV001172426;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79285209	79285209	G	A	4:g.79285209G>A	ClinGen:CA201906	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2811T>A (p.Cys937Ter)	80144	FRAS1	Likely pathogenic	-1	RCV001781130;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79291080	79291080	T	A	79291080	-
NM_025074.7(FRAS1):c.2818G>C (p.Glu940Gln)	80144	FRAS1	Uncertain significance	rs573458782	RCV000289239;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79291087	79291087	G	C	NC_000004.11:g.79291087G>C	ClinGen:CA2976743	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2835G>A (p.Gln945=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs137923783	RCV000902046\|RCV001156924;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79291104	79291104	G	A	4:g.79291104G>A	-
NM_025074.7(FRAS1):c.2846A>T (p.Asp949Val)	80144	FRAS1	Uncertain significance	rs202221840	RCV001156925\|RCV001859021;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79291115	79291115	A	T	4:g.79291115A>T	-
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs17003166	RCV000732334\|RCV000871682\|RCV001156926;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79291130	79291130	C	T	NC_000004.11:g.79291130C>T	-
NM_025074.7(FRAS1):c.2869+1G>A	80144	FRAS1	Likely pathogenic	rs1731436153	RCV001330026;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79291139	79291139	G	A	79291139	-
NM_025074.7(FRAS1):c.2870-5T>C	80144	FRAS1	Uncertain significance	rs768834170	RCV001156927;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79293867	79293867	T	C	4:g.79293867T>C	-
NM_025074.7(FRAS1):c.2894G>T (p.Cys965Phe)	80144	FRAS1	Likely pathogenic	rs1325190118	RCV000782359;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79293896	79293896	G	T	4:g.79293896G>T	-
NM_025074.7(FRAS1):c.2934T>G (p.Asp978Glu)	80144	FRAS1	Uncertain significance	rs1466526912	RCV001156928;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79293936	79293936	T	G	4:g.79293936T>G	-
NM_025074.7(FRAS1):c.2935G>T (p.Gly979Cys)	80144	FRAS1	Uncertain significance	rs538621809	RCV001156929;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79293937	79293937	G	T	4:g.79293937G>T	-
NM_025074.7(FRAS1):c.2939A>G (p.Tyr980Cys)	80144	FRAS1	Uncertain significance	rs570962669	RCV001156930;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79293941	79293941	A	G	4:g.79293941A>G	-
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs111554790	RCV000514473\|RCV001151503;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79293958	79293958	G	A	4:g.79293958G>A	ClinGen:CA2976778	CN517202 not provided;
NM_025074.7(FRAS1):c.3010+9G>A	80144	FRAS1	Conflicting interpretations of pathogenicity	rs148841455	RCV000344196\|RCV000396312;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79294021	79294021	G	A	4:g.79294021G>A	ClinGen:CA2976790	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3048T>C (p.His1016=)	80144	FRAS1	Uncertain significance	rs886059631	RCV000394947;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79295302	79295302	T	C	NC_000004.11:g.79295302T>C	ClinGen:CA10618312	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3058C>T (p.Arg1020Cys)	80144	FRAS1	Uncertain significance	rs200292361	RCV000295202\|RCV000397108;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79295312	79295312	C	T	4:g.79295312C>T	ClinGen:CA2976813	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3065A>C (p.Lys1022Thr)	80144	FRAS1	Likely benign	rs201252328	RCV000876608\|RCV001151504;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79295319	79295319	A	C	4:g.79295319A>C	-
NM_025074.7(FRAS1):c.3068G>A (p.Gly1023Glu)	80144	FRAS1	Benign	rs17459809	RCV000350153\|RCV002057960\|RCV001702010;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79295322	79295322	G	A	NC_000004.11:g.79295322G>A	ClinGen:CA2976818	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3124G>A (p.Ala1042Thr)	80144	FRAS1	Benign	rs114077522	RCV000398347\|RCV001702626\|RCV002057961;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374\|MedGen:CN517202	4	79295378	79295378	G	A	NC_000004.11:g.79295378G>A	ClinGen:CA2976831	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3128A>G (p.Asp1043Gly)	80144	FRAS1	Uncertain significance	rs886059632	RCV000300692;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79295382	79295382	A	G	NC_000004.11:g.79295382A>G	ClinGen:CA10618313	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3151+14_3151+15dup	80144	FRAS1	Benign	rs398092530	RCV000246753\|RCV000355496\|RCV001529401;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79295418	79295419	C	CTG	NC_000004.11:g.79295419_79295420dup	ClinGen:CA2976837	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3152-10T>C	80144	FRAS1	Uncertain significance	rs776449329	RCV000398648;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79296883	79296883	T	C	NC_000004.11:g.79296883T>C	ClinGen:CA2976856	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr)	80144	FRAS1	Uncertain significance	rs139162588	RCV001154519;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79296898	79296898	C	A	4:g.79296898C>A	-
NM_025074.7(FRAS1):c.3286T>C (p.Cys1096Arg)	80144	FRAS1	Uncertain significance	rs765732994	RCV000297107;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79297027	79297027	T	C	NC_000004.11:g.79297027T>C	ClinGen:CA2976886	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3293-2A>T	80144	FRAS1	Pathogenic	-1	RCV001806447;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79300878	79300878	A	T	79300878	-
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=)	80144	FRAS1	Benign	rs35774552	RCV000176765\|RCV000361100\|RCV002056954;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79300899	79300899	T	C	4:g.79300899T>C	ClinGen:CA202103	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys)	80144	FRAS1	Benign	rs12512164	RCV000176766\|RCV000266510\|RCV002054081;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79300993	79300993	G	A	4:g.79300993G>A	ClinGen:CA202105	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3529A>C (p.Lys1177Gln)	80144	FRAS1	Uncertain significance	rs769982793	RCV001154520;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79301116	79301116	A	C	4:g.79301116A>C	-
NM_025074.7(FRAS1):c.3567A>G (p.Lys1189=)	80144	FRAS1	Uncertain significance	rs778818485	RCV001154521;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79305216	79305216	A	G	4:g.79305216A>G	-
NM_025074.7(FRAS1):c.3631C>T (p.Gln1211Ter)	80144	FRAS1	Likely pathogenic	-1	RCV001807682;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79305280	79305280	C	T	79305280	-
NM_025074.7(FRAS1):c.3648+12G>A	80144	FRAS1	Uncertain significance	rs764016097	RCV001154522;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79305309	79305309	G	A	4:g.79305309G>A	-
NM_025074.7(FRAS1):c.3649-9A>C	80144	FRAS1	Conflicting interpretations of pathogenicity	rs763538373	RCV000897188\|RCV001155343;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79308520	79308520	A	C	4:g.79308520A>C	-
NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter)	80144	FRAS1	Pathogenic	rs186964660	RCV001172412;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79308610	79308610	C	T	4:g.79308610C>T	-
NM_025074.7(FRAS1):c.3799C>T (p.Gln1267Ter)	80144	FRAS1	Pathogenic	rs120074158	RCV000002946;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79308679	79308679	C	T	4:g.79308679C>T	ClinGen:CA115773,OMIM:607830.0004	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3824C>G (p.Pro1275Arg)	80144	FRAS1	Uncertain significance	rs1732266097	RCV001155344;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79308704	79308704	C	G	4:g.79308704C>G	-
NM_025074.7(FRAS1):c.3873T>C (p.Tyr1291=)	80144	FRAS1	Uncertain significance	rs1732268531	RCV001155345;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79308753	79308753	T	C	4:g.79308753T>C	-
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=)	80144	FRAS1	Benign	rs76107832	RCV000302768\|RCV000870806;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79308831	79308831	G	A	NC_000004.11:g.79308831G>A	ClinGen:CA2977049	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3986G>A (p.Gly1329Asp)	80144	FRAS1	Uncertain significance	rs375515578	RCV001155346;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79321898	79321898	G	A	4:g.79321898G>A	-
NM_025074.7(FRAS1):c.4009A>G (p.Met1337Val)	80144	FRAS1	Uncertain significance	rs765572525	RCV000357532;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79321921	79321921	A	G	NC_000004.11:g.79321921A>G	ClinGen:CA2977076	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4019T>C (p.Val1340Ala)	80144	FRAS1	Uncertain significance	rs1578299894	RCV001155347;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79321931	79321931	T	C	4:g.79321931T>C	-
NM_025074.7(FRAS1):c.4032dup (p.Met1345fs)	80144	FRAS1	Pathogenic	rs1732856311	RCV001172429;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79321938	79321939	A	AG	4:g.79321938_79321939insG	-
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs79869130	RCV000502497\|RCV000871789\|RCV001155348;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79322007	79322007	C	T	NC_000004.11:g.79322007C>T	ClinGen:CA2977089	CN169374 not specified;
NM_025074.7(FRAS1):c.4111C>T (p.Gln1371Ter)	80144	FRAS1	Pathogenic	rs1732862637	RCV001172408;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79322023	79322023	C	T	4:g.79322023C>T	-
NM_025074.7(FRAS1):c.4143T>C (p.Leu1381=)	80144	FRAS1	Benign	rs113301188	RCV000870937\|RCV001157030;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79328830	79328830	T	C	4:g.79328830T>C	-
NM_025074.7(FRAS1):c.4159G>T (p.Ala1387Ser)	80144	FRAS1	Uncertain significance	rs200689785	RCV001157031;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79328846	79328846	G	T	4:g.79328846G>T	-
NM_025074.7(FRAS1):c.4160C>T (p.Ala1387Val)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs201864889	RCV000272259\|RCV000958083;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79328847	79328847	C	T	NC_000004.11:g.79328847C>T	ClinGen:CA2977121	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala)	80144	FRAS1	Uncertain significance	rs376487875	RCV000327375\|RCV001770277;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79328868	79328868	G	C	NC_000004.11:g.79328868G>C	ClinGen:CA2977123	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter)	80144	FRAS1	Pathogenic	rs1733155852	RCV001172430;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79328870	79328870	C	T	4:g.79328870C>T	-
NM_025074.7(FRAS1):c.4255G>A (p.Val1419Ile)	80144	FRAS1	Uncertain significance	rs570825961	RCV001157032;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79328942	79328942	G	A	4:g.79328942G>A	-
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter)	80144	FRAS1	Pathogenic	-1	RCV001645007;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79328946	79328946	G	A	79328946	-
NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter)	80144	FRAS1	Pathogenic	rs120074159	RCV000002947;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79328958	79328958	C	G	4:g.79328958C>G	ClinGen:CA115775,OMIM:607830.0005	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4346G>T (p.Ser1449Ile)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs201131604	RCV000877954\|RCV001157033;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79334160	79334160	G	T	4:g.79334160G>T	-
NM_025074.7(FRAS1):c.4364C>T (p.Ala1455Val)	80144	FRAS1	Uncertain significance	rs201693179	RCV000382855\|RCV000735054;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79334178	79334178	C	T	NC_000004.11:g.79334178C>T	ClinGen:CA2977173	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4367T>C (p.Ile1456Thr)	80144	FRAS1	Uncertain significance	rs560902495	RCV001157034;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79334181	79334181	T	C	4:g.79334181T>C	-
NM_025074.7(FRAS1):c.4465del (p.Leu1489fs)	80144	FRAS1	Pathogenic	rs1257736144	RCV001293651;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79340140	79340140	TC	T	79340139	-
NM_025074.7(FRAS1):c.4555C>T (p.Arg1519Trp)	80144	FRAS1	Uncertain significance	rs761970312	RCV000269617;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79343031	79343031	C	T	NC_000004.11:g.79343031C>T	ClinGen:CA2977245	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4557G>A (p.Arg1519=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs773736914	RCV000333996\|RCV000930389;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79343033	79343033	G	A	NC_000004.11:g.79343033G>A	ClinGen:CA2977247	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4578C>G (p.Ile1526Met)	80144	FRAS1	Uncertain significance	rs757959583	RCV001254010;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79343054	79343054	C	G	4:g.79343054C>G	-
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs1872267	RCV000388525\|RCV000658999\|RCV001818432;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79343055	79343055	C	T	4:g.79343055C>T	ClinGen:CA244749	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4580G>A (p.Arg1527Gln)	80144	FRAS1	Uncertain significance	rs566595838	RCV001254011\|RCV001879878;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79343056	79343056	G	A	4:g.79343056G>A	-
NM_025074.7(FRAS1):c.4634C>T (p.Pro1545Leu)	80144	FRAS1	Uncertain significance	rs201675499	RCV000294415\|RCV001786378;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79343110	79343110	C	T	NC_000004.11:g.79343110C>T	ClinGen:CA2977263	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4635G>A (p.Pro1545=)	80144	FRAS1	Benign	rs78575519	RCV000243307\|RCV000349386\|RCV001711733;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79343111	79343111	G	A	NC_000004.11:g.79343111G>A	ClinGen:CA2977264	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs148663672	RCV000375909\|RCV000488060\|RCV001824752;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79343124	79343124	C	T	NC_000004.11:g.79343124C>T	ClinGen:CA2977267	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4678+5T>C	80144	FRAS1	Uncertain significance	rs76993002	RCV000281504;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79343159	79343159	T	C	NC_000004.11:g.79343159T>C	ClinGen:CA2977271	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4679-9C>T	80144	FRAS1	Conflicting interpretations of pathogenicity	rs541669781	RCV001154630\|RCV001253867;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79345533	79345533	C	T	4:g.79345533C>T	-
NM_025074.7(FRAS1):c.4682T>C (p.Leu1561Pro)	80144	FRAS1	Uncertain significance	rs376814395	RCV000336087;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79345545	79345545	T	C	NC_000004.11:g.79345545T>C	ClinGen:CA2977292	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4737G>A (p.Pro1579=)	80144	FRAS1	Uncertain significance	rs373137263	RCV000401213;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79350274	79350274	G	A	NC_000004.11:g.79350274G>A	ClinGen:CA2977319	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4808G>A (p.Arg1603Gln)	80144	FRAS1	Uncertain significance	rs772059263	RCV001154631;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79350345	79350345	G	A	4:g.79350345G>A	-
NM_025074.7(FRAS1):c.4815G>A (p.Ala1605=)	80144	FRAS1	Benign/Likely benign	rs201188262	RCV000305718\|RCV000871712;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79350352	79350352	G	A	NC_000004.11:g.79350352G>A	ClinGen:CA2977335	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4843+2T>C	80144	FRAS1	Uncertain significance	rs370018000	RCV001328202\|RCV001780227\|RCV001732106;	N	MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805, Orphanet:93545\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79350382	79350382	T	C	79350382	-
NM_025074.7(FRAS1):c.4874C>T (p.Thr1625Ile)	80144	FRAS1	Uncertain significance	rs770386832	RCV001154632;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79351476	79351476	C	T	4:g.79351476C>T	-
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile)	80144	FRAS1	Benign	rs34271211	RCV000341961\|RCV000864826\|RCV001729557;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79351542	79351542	C	T	NC_000004.11:g.79351542C>T	ClinGen:CA2977368	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4959G>A (p.Pro1653=)	80144	FRAS1	Benign/Likely benign	rs372154997	RCV000402329\|RCV000879378;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79351561	79351561	G	A	4:g.79351561G>A	ClinGen:CA2977371	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5034T>C (p.Ser1678=)	80144	FRAS1	Uncertain significance	rs1329723132	RCV001155470;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79353575	79353575	T	C	4:g.79353575T>C	-
NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln)	80144	FRAS1	Uncertain significance	rs201110914	RCV000302495;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79353580	79353580	G	A	4:g.79353580G>A	ClinGen:CA2977410	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs35219594	RCV000177952\|RCV000366484\|RCV000870983;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79353587	79353587	C	G	4:g.79353587C>G	ClinGen:CA202671	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5056A>C (p.Ile1686Leu)	80144	FRAS1	Uncertain significance	rs748832101	RCV001155471;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79353597	79353597	A	C	4:g.79353597A>C	-
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)	80144	FRAS1	Pathogenic/Likely pathogenic	rs775517752	RCV000593264\|RCV001330027;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79353666	79353666	C	T	4:g.79353666C>T	ClinGen:CA2977423	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5134C>T (p.Arg1712Ter)	80144	FRAS1	Pathogenic	rs535527511	RCV001172415;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79353675	79353675	C	T	4:g.79353675C>T	-
NM_025074.7(FRAS1):c.5166del (p.Val1723fs)	80144	FRAS1	Pathogenic	-1	RCV001837046;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79353707	79353707	CT	C	79353706	-
NM_025074.7(FRAS1):c.5169_5175del (p.Ala1724fs)	80144	FRAS1	Pathogenic	rs1734259370	RCV001172423;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79353708	79353714	TGTTGCCA	T	4:g.79353708_79353714del	-
NM_025074.7(FRAS1):c.5208T>C (p.Leu1736=)	80144	FRAS1	Benign	rs35608396	RCV000271918\|RCV000870846;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79353749	79353749	T	C	4:g.79353749T>C	ClinGen:CA2977444	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5218-9C>T	80144	FRAS1	Uncertain significance	rs369761349	RCV000306455;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79359715	79359715	C	T	4:g.79359715C>T	ClinGen:CA2977466	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5366+13T>G	80144	FRAS1	Benign	rs2170899	RCV000178008\|RCV000370507\|RCV002054104;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79359885	79359885	T	G	4:g.79359885T>G	ClinGen:CA202688	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter)	80144	FRAS1	Likely pathogenic	rs757311669	RCV000761280;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79360059	79360059	C	G	NC_000004.11:g.79360059C>G	-
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs150916370	RCV000872516\|RCV001157148;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79360063	79360063	G	A	4:g.79360063G>A	-
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del)	80144	FRAS1	Uncertain significance	rs730882178	RCV000002948;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79360107	79360112	ATTTCTC	A	4:g.79360107_79360112del	ClinGen:CA212802,OMIM:607830.0006	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5474T>G (p.Met1825Arg)	80144	FRAS1	Uncertain significance	rs200477457	RCV001157149\|RCV001572842;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79360163	79360163	T	G	4:g.79360163T>G	-
NM_025074.7(FRAS1):c.5516C>T (p.Ala1839Val)	80144	FRAS1	Uncertain significance	rs769089211	RCV000275946;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79360205	79360205	C	T	4:g.79360205C>T	ClinGen:CA2977525	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5574dup (p.Ala1859fs)	80144	FRAS1	Pathogenic	rs753831692	RCV001172427;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79362353	79362354	A	AT	4:g.79362353_79362354insT	-
NM_025074.7(FRAS1):c.5664_5665+19delinsT	80144	FRAS1	Pathogenic	rs886037766	RCV000257997;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79362450	79362470	AGGTACTACTTCCTGTAAAAC	T	NC_000004.11:g.79362450_79362470delinsT	ClinGen:CA10575841	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5670T>C (p.Asp1890=)	80144	FRAS1	Uncertain significance	rs1718788319	RCV001157150;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79366680	79366680	T	C	4:g.79366680T>C	-
NM_025074.7(FRAS1):c.5716del (p.Ile1906fs)	80144	FRAS1	Pathogenic	rs1718790934	RCV001172432;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79366726	79366726	TA	T	4:g.79366726_79366726del	-
NM_025074.7(FRAS1):c.5756G>A (p.Ser1919Asn)	80144	FRAS1	Uncertain significance	rs763355889	RCV000330987;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79366766	79366766	G	A	4:g.79366766G>A	ClinGen:CA2977599	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5788A>G (p.Ile1930Val)	80144	FRAS1	Uncertain significance	rs373432682	RCV000385357;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79366798	79366798	A	G	4:g.79366798A>G	ClinGen:CA2977605	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5857-5A>G	80144	FRAS1	Likely pathogenic	-1	RCV001807684;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79367876	79367876	A	G	79367876	-
NM_025074.7(FRAS1):c.5862G>T (p.Lys1954Asn)	80144	FRAS1	Uncertain significance	rs200547348	RCV001157151;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79367886	79367886	G	T	4:g.79367886G>T	-
NM_025074.7(FRAS1):c.5865C>T (p.Asn1955=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs201750748	RCV000262786\|RCV000873523;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79367889	79367889	C	T	4:g.79367889C>T	ClinGen:CA2977649	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5952dup (p.Asp1985fs)	80144	FRAS1	Pathogenic	rs1718847595	RCV001172434;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79367974	79367975	C	CA	4:g.79367974_79367975insA	-
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)	80144	FRAS1	Pathogenic	rs771251344	RCV001172433;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79368034	79368034	G	A	4:g.79368034G>A	-
NM_025074.7(FRAS1):c.6010+8A>G	80144	FRAS1	Benign	rs7670555	RCV000318010\|RCV002057962;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79368042	79368042	A	G	NC_000004.11:g.79368042A>G	ClinGen:CA2977677	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6010+10G>A	80144	FRAS1	Benign	rs78537685	RCV000372672\|RCV002057963;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79368044	79368044	G	A	4:g.79368044G>A	ClinGen:CA2977679	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6010+13C>T	80144	FRAS1	Benign	rs75774018	RCV000278438\|RCV002061249;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79368047	79368047	C	T	4:g.79368047C>T	ClinGen:CA2977680	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6039T>C (p.Ser2013=)	80144	FRAS1	Benign	rs76472539	RCV000342802\|RCV000864603;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79369235	79369235	T	C	4:g.79369235T>C	ClinGen:CA2977688	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6124C>T (p.Pro2042Ser)	80144	FRAS1	Benign	rs60539739	RCV000378700\|RCV000872358;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79369320	79369320	C	T	4:g.79369320C>T	ClinGen:CA2977703	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6202A>T (p.Lys2068Ter)	80144	FRAS1	Pathogenic	-1	RCV001376187;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79369398	79369398	A	T	79369398	-
NM_025074.7(FRAS1):c.6252C>T (p.Asn2084=)	80144	FRAS1	Benign	rs114956797	RCV000284259\|RCV000864604;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79369448	79369448	C	T	4:g.79369448C>T	ClinGen:CA2977726	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys)	80144	FRAS1	Uncertain significance	rs193229946	RCV001151693\|RCV001858992;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79371316	79371316	C	T	4:g.79371316C>T	-
NM_025074.7(FRAS1):c.6301C>T (p.His2101Tyr)	80144	FRAS1	Benign/Likely benign	rs183398121	RCV000339469\|RCV000871375\|RCV001821070;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79371331	79371331	C	T	4:g.79371331C>T	ClinGen:CA2977747	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6303C>G (p.His2101Gln)	80144	FRAS1	Uncertain significance	rs1718978389	RCV001197810;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79371333	79371333	C	G	4:g.79371333C>G	-
NM_025074.7(FRAS1):c.6342del (p.Met2115fs)	80144	FRAS1	Likely pathogenic	-1	RCV001807683;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79371371	79371371	GT	G	79371370	-
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter)	80144	FRAS1	Pathogenic	-1	RCV001645008;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79371463	79371463	C	T	79371463	-
NM_025074.7(FRAS1):c.6444C>T (p.Thr2148=)	80144	FRAS1	Benign	rs17003235	RCV000243803\|RCV000396201\|RCV002058349;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79371474	79371474	C	T	NC_000004.11:g.79371474C>T	ClinGen:CA2977783	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6468C>T (p.His2156=)	80144	FRAS1	Benign	rs753752	RCV000178609\|RCV000309112\|RCV002054119;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79372930	79372930	C	T	4:g.79372930C>T	ClinGen:CA202954	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala)	80144	FRAS1	Benign/Likely benign	rs76345011	RCV000274838\|RCV000907976\|RCV001152933;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79372992	79372992	T	C	4:g.79372992T>C	ClinGen:CA2977816	CN169374 not specified;
NM_025074.7(FRAS1):c.6569C>T (p.Ser2190Phe)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs200166354	RCV000345247\|RCV000980053;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79373031	79373031	C	T	NC_000004.11:g.79373031C>T	ClinGen:CA2977821	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6608C>T (p.Thr2203Ile)	80144	FRAS1	Benign	rs114373602	RCV000399402\|RCV000864605;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79373353	79373353	C	T	NC_000004.11:g.79373353C>T	ClinGen:CA2977842	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6622C>T (p.Leu2208=)	80144	FRAS1	Uncertain significance	rs373744776	RCV000315047;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79373367	79373367	C	T	NC_000004.11:g.79373367C>T	ClinGen:CA2977843	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6681C>G (p.Asp2227Glu)	80144	FRAS1	Uncertain significance	rs776374326	RCV001152934;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79373426	79373426	C	G	4:g.79373426C>G	-
NM_025074.7(FRAS1):c.6684G>A (p.Gln2228=)	80144	FRAS1	Uncertain significance	rs759150629	RCV000369746;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79373429	79373429	G	A	NC_000004.11:g.79373429G>A	ClinGen:CA2977853	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6691G>A (p.Gly2231Arg)	80144	FRAS1	Benign	rs76623027	RCV000407561\|RCV000864606;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79373436	79373436	G	A	NC_000004.11:g.79373436G>A	ClinGen:CA2977857	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6726G>A (p.Gln2242=)	80144	FRAS1	Uncertain significance	rs761562615	RCV000312500;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79373471	79373471	G	A	NC_000004.11:g.79373471G>A	ClinGen:CA2977863	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6727C>T (p.Pro2243Ser)	80144	FRAS1	Uncertain significance	rs764783509	RCV000355589;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79373472	79373472	C	T	NC_000004.11:g.79373472C>T	ClinGen:CA2977864	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6754G>A (p.Ala2252Thr)	80144	FRAS1	Benign	rs78404051	RCV000263041\|RCV000864607;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79373499	79373499	G	A	NC_000004.11:g.79373499G>A	ClinGen:CA2977868	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6763+12A>G	80144	FRAS1	Benign/Likely benign	rs185282133	RCV001155568\|RCV002070910;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79373520	79373520	A	G	4:g.79373520A>G	-
NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter)	80144	FRAS1	Pathogenic	-1	RCV001387516\|RCV001780361;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79385216	79385216	C	T	79385216	-
NM_025074.7(FRAS1):c.6806G>A (p.Arg2269Gln)	80144	FRAS1	Uncertain significance	rs771923121	RCV000315946;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79385217	79385217	G	A	NC_000004.11:g.79385217G>A	ClinGen:CA2977895	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6924C>T (p.Val2308=)	80144	FRAS1	Benign	rs13123710	RCV000253422\|RCV000354292\|RCV002058350;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79385632	79385632	C	T	NC_000004.11:g.79385632C>T	ClinGen:CA2977932	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6932C>T (p.Ser2311Leu)	80144	FRAS1	Uncertain significance	rs202092409	RCV000266447;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79385640	79385640	C	T	NC_000004.11:g.79385640C>T	ClinGen:CA2977936	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=)	80144	FRAS1	Benign/Likely benign	rs150936204	RCV000324038\|RCV000876609\|RCV001821071;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79385647	79385647	C	T	NC_000004.11:g.79385647C>T	ClinGen:CA2977938	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)	80144	FRAS1	Pathogenic	rs730882179	RCV000002949\|RCV001093377;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79385669	79385670	C	CGG	4:g.79385669_79385670insGG	ClinGen:CA212804,OMIM:607830.0007	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=)	80144	FRAS1	Benign	rs6851427	RCV000246034\|RCV000376269\|RCV002058351;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79385719	79385719	G	A	NC_000004.11:g.79385719G>A	ClinGen:CA2977955	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7029+7G>A	80144	FRAS1	Conflicting interpretations of pathogenicity	rs183687186	RCV000733473\|RCV001157257;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79385744	79385744	G	A	NC_000004.11:g.79385744G>A	-
NM_025074.7(FRAS1):c.7029+9A>C	80144	FRAS1	Benign/Likely benign	rs188606284	RCV000283913\|RCV000865347\|RCV001701865;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79385746	79385746	A	C	NC_000004.11:g.79385746A>C	ClinGen:CA2977960	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7030-6G>A	80144	FRAS1	Uncertain significance	-1	RCV002052240;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79387356	79387356	G	A	79387356	-
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs56291926	RCV000305628\|RCV001157258;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79387365	79387365	G	A	4:g.79387365G>A	ClinGen:CA2977978	CN169374 not specified;
NM_025074.7(FRAS1):c.7035G>A (p.Glu2345=)	80144	FRAS1	Uncertain significance	rs886059633	RCV000327285;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79387367	79387367	G	A	NC_000004.11:g.79387367G>A	ClinGen:CA10621737	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs201369510	RCV000384240\|RCV000488371\|RCV001824664;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79387371	79387371	G	T	4:g.79387371G>T	ClinGen:CA246305	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7074C>T (p.Gly2358=)	80144	FRAS1	Benign	rs7660641	RCV000287606\|RCV000872359;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79387406	79387406	C	T	NC_000004.11:g.79387406C>T	ClinGen:CA2977990	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter)	80144	FRAS1	Likely pathogenic	rs777438557	RCV001283829;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79387416	79387416	C	T	79387416	-
NM_025074.7(FRAS1):c.7085G>A (p.Arg2362Gln)	80144	FRAS1	Uncertain significance	rs865839705	RCV001157259;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79387417	79387417	G	A	4:g.79387417G>A	-
NM_025074.7(FRAS1):c.7110C>T (p.His2370=)	80144	FRAS1	Benign	rs7660664	RCV000249146\|RCV000351573\|RCV001651252;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79387442	79387442	C	T	NC_000004.11:g.79387442C>T	ClinGen:CA2977998	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu)	80144	FRAS1	Benign	rs7684722	RCV000253922\|RCV000395153\|RCV001711577;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79387464	79387464	A	G	NC_000004.11:g.79387464A>G	ClinGen:CA2978000	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7219A>T (p.Thr2407Ser)	80144	FRAS1	Uncertain significance	rs886059634	RCV000293042;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79387551	79387551	A	T	NC_000004.11:g.79387551A>T	ClinGen:CA10619267	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7223A>G (p.Asn2408Ser)	80144	FRAS1	Uncertain significance	rs201277074	RCV000350355\|RCV001573892;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79387555	79387555	A	G	NC_000004.11:g.79387555A>G	ClinGen:CA2978013	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7238T>C (p.Ile2413Thr)	80144	FRAS1	Uncertain significance	rs199596557	RCV001151797;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79387570	79387570	T	C	4:g.79387570T>C	-
NM_025074.7(FRAS1):c.7254dup (p.Glu2419fs)	80144	FRAS1	Pathogenic	-1	RCV001535834;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79387582	79387583	G	GA	79387582	-
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=)	80144	FRAS1	Benign	rs34840208	RCV000398451\|RCV001702627\|RCV002061250;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374\|MedGen:CN517202	4	79387586	79387586	A	G	NC_000004.11:g.79387586A>G	ClinGen:CA2978020	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7371+11T>C	80144	FRAS1	Benign	rs7664505	RCV000245741\|RCV000301405\|RCV002058352;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79391256	79391256	T	C	NC_000004.11:g.79391256T>C	ClinGen:CA2978069	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7422C>A (p.Thr2474=)	80144	FRAS1	Uncertain significance	rs759674249	RCV001151798;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79393384	79393384	C	A	4:g.79393384C>A	-
NM_025074.7(FRAS1):c.7441T>A (p.Tyr2481Asn)	80144	FRAS1	Uncertain significance	rs148042277	RCV001153047;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79393403	79393403	T	A	4:g.79393403T>A	-
NM_025074.7(FRAS1):c.7451C>T (p.Thr2484Met)	80144	FRAS1	Uncertain significance	rs200888184	RCV000354018\|RCV001591011;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79393413	79393413	C	T	NC_000004.11:g.79393413C>T	ClinGen:CA2978101	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7522+1G>T	80144	FRAS1	Pathogenic	rs730882180	RCV000002950;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79393485	79393485	G	T	NC_000004.11:g.79393485G>T	ClinGen:CA212805,OMIM:607830.0008	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7522+12C>G	80144	FRAS1	Uncertain significance	rs188066525	RCV000400371;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79393496	79393496	C	G	NC_000004.11:g.79393496C>G	ClinGen:CA2978123	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7523-3_7523-2del	80144	FRAS1	Likely pathogenic	-1	RCV001781128;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79394587	79394588	TCA	T	79394586	-
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs745597204	RCV000223984\|RCV000778741\|RCV001328302;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805, Orphanet:93545	4	79394620	79394620	T	A	NC_000004.11:g.79394620T>A	ClinGen:CA2978147
NM_025074.7(FRAS1):c.7573C>T (p.Arg2525Cys)	80144	FRAS1	Uncertain significance	rs376675521	RCV001153048;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79394642	79394642	C	T	4:g.79394642C>T	-
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs144530996	RCV000304479\|RCV000873180;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79394691	79394691	A	G	NC_000004.11:g.79394691A>G	ClinGen:CA2978164	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7633G>A (p.Asp2545Asn)	80144	FRAS1	Benign	rs4388111	RCV000361577\|RCV000870847;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79394702	79394702	G	A	NC_000004.11:g.79394702G>A	ClinGen:CA2978166	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg)	80144	FRAS1	Benign	rs183712679	RCV000265000\|RCV000870879;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79394721	79394721	A	G	NC_000004.11:g.79394721A>G	ClinGen:CA2978167	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7701G>A (p.Lys2567=)	80144	FRAS1	Benign	rs79849142	RCV000322445\|RCV000870678;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79396610	79396610	G	A	NC_000004.11:g.79396610G>A	ClinGen:CA2978185	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7722G>A (p.Thr2574=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs569422992	RCV000365383\|RCV000916600;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79396631	79396631	G	A	NC_000004.11:g.79396631G>A	ClinGen:CA2978191	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7758C>T (p.Ile2586=)	80144	FRAS1	Benign	rs77602894	RCV000273188\|RCV000870679;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79396667	79396667	C	T	NC_000004.11:g.79396667C>T	ClinGen:CA2978201	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7826del (p.Gln2609fs)	80144	FRAS1	Pathogenic	-1	RCV001783310;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79396735	79396735	CA	C	79396734	-
NM_025074.7(FRAS1):c.7923T>C (p.Asn2641=)	80144	FRAS1	Uncertain significance	rs765455808	RCV000325784;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79399040	79399040	T	C	NC_000004.11:g.79399040T>C	ClinGen:CA2978251	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8002A>G (p.Asn2668Asp)	80144	FRAS1	Uncertain significance	rs760944447	RCV001155667;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79399119	79399119	A	G	4:g.79399119A>G	-
NM_025074.7(FRAS1):c.8004C>T (p.Asn2668=)	80144	FRAS1	Uncertain significance	rs886059635	RCV000382746;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79399121	79399121	C	T	NC_000004.11:g.79399121C>T	ClinGen:CA10621738	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8010C>T (p.Thr2670=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs370597256	RCV000872609\|RCV001155668;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79399127	79399127	C	T	4:g.79399127C>T	-
NM_025074.7(FRAS1):c.8098+1G>T	80144	FRAS1	Pathogenic	rs376088537	RCV001172435;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79399216	79399216	G	T	4:g.79399216G>T	-
NM_025074.7(FRAS1):c.8125A>G (p.Ile2709Val)	80144	FRAS1	Uncertain significance	rs762129626	RCV000294681;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79400554	79400554	A	G	NC_000004.11:g.79400554A>G	ClinGen:CA2978292	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr)	80144	FRAS1	Benign	rs192476468	RCV000872043\|RCV001155669\|RCV001727814;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374	4	79400644	79400644	G	A	4:g.79400644G>A	-
NM_025074.7(FRAS1):c.8295G>A (p.Glu2765=)	80144	FRAS1	Uncertain significance	rs372900422	RCV001157345;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79400724	79400724	G	A	4:g.79400724G>A	-
NM_025074.7(FRAS1):c.8329T>C (p.Ser2777Pro)	80144	FRAS1	Uncertain significance	rs773401610	RCV001157346;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79400758	79400758	T	C	4:g.79400758T>C	-
NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys)	80144	FRAS1	Uncertain significance	rs190483418	RCV001157347;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79400770	79400770	C	T	4:g.79400770C>T	-
NM_025074.7(FRAS1):c.8414A>G (p.Asn2805Ser)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs117838818	RCV000864878\|RCV001157348\|RCV001252860;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:000	4	79400843	79400843	A	G	4:g.79400843A>G	-
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met)	80144	FRAS1	Benign	rs114190041	RCV000333266\|RCV000870652;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79400846	79400846	C	T	NC_000004.11:g.79400846C>T	ClinGen:CA2978352	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=)	80144	FRAS1	Benign	rs11098194	RCV000251274\|RCV000385525\|RCV002058353;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79400868	79400868	C	T	NC_000004.11:g.79400868C>T	ClinGen:CA2978357	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8440G>A (p.Ala2814Thr)	80144	FRAS1	Uncertain significance	rs559602357	RCV001157349;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79400869	79400869	G	A	4:g.79400869G>A	-
NM_025074.7(FRAS1):c.8440G>T (p.Ala2814Ser)	80144	FRAS1	Uncertain significance	rs559602357	RCV001157350;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79400869	79400869	G	T	4:g.79400869G>T	-
NM_025074.7(FRAS1):c.8441C>T (p.Ala2814Val)	80144	FRAS1	Uncertain significance	rs886059636	RCV000293603;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79400870	79400870	C	T	NC_000004.11:g.79400870C>T	ClinGen:CA10618351	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8443+8A>G	80144	FRAS1	Conflicting interpretations of pathogenicity	rs373820698	RCV000336626\|RCV000926026;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79400880	79400880	A	G	4:g.79400880A>G	ClinGen:CA2978361	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8444-15T>C	80144	FRAS1	Uncertain significance	rs373332959	RCV000394370;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79402943	79402943	T	C	4:g.79402943T>C	ClinGen:CA2978374	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8460A>G (p.Pro2820=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs200879198	RCV001151898\|RCV002070842;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79402974	79402974	A	G	4:g.79402974A>G	-
NM_025074.7(FRAS1):c.8486C>A (p.Ser2829Tyr)	80144	FRAS1	Benign/Likely benign	rs376788346	RCV000278244\|RCV002061251;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79403000	79403000	C	A	4:g.79403000C>A	ClinGen:CA2978389	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8515C>T (p.Arg2839Trp)	80144	FRAS1	Uncertain significance	rs373073168	RCV000335599;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79403029	79403029	C	T	4:g.79403029C>T	ClinGen:CA2978400	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8535T>A (p.Ser2845=)	80144	FRAS1	Uncertain significance	rs773905369	RCV001151899;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79403049	79403049	T	A	4:g.79403049T>A	-
NM_025074.7(FRAS1):c.8556C>T (p.Tyr2852=)	80144	FRAS1	Uncertain significance	rs778885038	RCV000394378;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79403070	79403070	C	T	4:g.79403070C>T	ClinGen:CA2978409	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=)	80144	FRAS1	Benign/Likely benign	rs201745281	RCV000305485\|RCV000872020\|RCV001821072;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79403088	79403088	G	A	4:g.79403088G>A	ClinGen:CA2978413	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8602C>T (p.Gln2868Ter)	80144	FRAS1	Pathogenic	rs120074156	RCV000002943;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79403116	79403116	C	T	4:g.79403116C>T	OMIM:607830.0001,ClinGen:CA115769	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8604+5G>A	80144	FRAS1	Likely pathogenic	rs200282443	RCV001172428\|RCV001328204;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805, Orphanet:93545	4	79403123	79403123	G	A	4:g.79403123G>A	-
NM_025074.7(FRAS1):c.8605-7C>T	80144	FRAS1	Uncertain significance	rs765550592	RCV000339255;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79403535	79403535	C	T	4:g.79403535C>T	ClinGen:CA2978447	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8613C>G (p.Thr2871=)	80144	FRAS1	Uncertain significance	rs758106272	RCV000400902;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79403550	79403550	C	G	4:g.79403550C>G	ClinGen:CA2978449	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8643G>A (p.Pro2881=)	80144	FRAS1	Uncertain significance	rs749014065	RCV000309042;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79403580	79403580	G	A	4:g.79403580G>A	ClinGen:CA2978457	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8698G>A (p.Glu2900Lys)	80144	FRAS1	Likely benign	rs150998139	RCV000366027\|RCV000903182;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79403635	79403635	G	A	4:g.79403635G>A	ClinGen:CA2978467	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8705C>T (p.Thr2902Ile)	80144	FRAS1	Uncertain significance	rs757116242	RCV000269170;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79403642	79403642	C	T	4:g.79403642C>T	ClinGen:CA2978469	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8725A>T (p.Ile2909Phe)	80144	FRAS1	Uncertain significance	rs367742749	RCV001153158;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79403662	79403662	A	T	4:g.79403662A>T	-
NM_025074.7(FRAS1):c.8745C>T (p.Phe2915=)	80144	FRAS1	Benign	rs41327848	RCV000243075\|RCV000307968\|RCV002058354;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79403682	79403682	C	T	NC_000004.11:g.79403682C>T	ClinGen:CA2978475	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=)	80144	FRAS1	Benign/Likely benign	rs114854941	RCV000729980\|RCV000870746\|RCV001155759;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79410108	79410108	C	T	NC_000004.11:g.79410108C>T	-
NM_025074.7(FRAS1):c.8844C>T (p.Ser2948=)	80144	FRAS1	Uncertain significance	rs778096225	RCV001155760;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79410120	79410120	C	T	4:g.79410120C>T	-
NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe)	80144	FRAS1	Uncertain significance	rs200212920	RCV000179228\|RCV001155761;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79410122	79410122	A	T	4:g.79410122A>T	ClinGen:CA246504	CN169374 not specified;
NM_025074.7(FRAS1):c.8940A>G (p.Thr2980=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs375788413	RCV000864267\|RCV001155762;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79410216	79410216	A	G	4:g.79410216A>G	-
NM_025074.7(FRAS1):c.8958+4A>G	80144	FRAS1	Uncertain significance	rs368613886	RCV000370839;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79410238	79410238	A	G	4:g.79410238A>G	ClinGen:CA2978529	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8959-11A>G	80144	FRAS1	Benign	rs112232078	RCV000273855\|RCV002057964;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79417948	79417948	A	G	4:g.79417948A>G	ClinGen:CA2978545	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8985C>T (p.His2995=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs201241555	RCV000331250\|RCV000895641;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79417985	79417985	C	T	4:g.79417985C>T	ClinGen:CA2978550	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9013C>T (p.Gln3005Ter)	80144	FRAS1	Pathogenic	rs120074157	RCV000002944;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79418013	79418013	C	T	4:g.79418013C>T	ClinGen:CA115771,OMIM:607830.0002	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9111A>G (p.Glu3037=)	80144	FRAS1	Uncertain significance	rs1720523467	RCV001155763;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79418111	79418111	A	G	4:g.79418111A>G	-
NM_025074.7(FRAS1):c.9116-11T>C	80144	FRAS1	Benign	rs7677541	RCV000246248\|RCV000374156\|RCV001668587;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79420864	79420864	T	C	NC_000004.11:g.79420864T>C	ClinGen:CA2978585	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9116-6C>T	80144	FRAS1	Benign	rs76630865	RCV000241899\|RCV001157469;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79420869	79420869	C	T	NC_000004.11:g.79420869C>T	ClinGen:CA2978587	CN169374 not specified;
NM_025074.7(FRAS1):c.9116-5C>G	80144	FRAS1	Benign	rs7695038	RCV000250938\|RCV000263121\|RCV001668588;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79420870	79420870	C	G	NC_000004.11:g.79420870C>G	ClinGen:CA2978588	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9123_9124del (p.Thr3041_Ile3042insTer)	80144	FRAS1	Likely pathogenic	-1	RCV001535980;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79420882	79420883	CCA	C	79420881	-
NM_025074.7(FRAS1):c.9154C>T (p.Arg3052Trp)	80144	FRAS1	Uncertain significance	rs779931297	RCV000316018;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79420913	79420913	C	T	4:g.79420913C>T	ClinGen:CA2978598	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9161C>G (p.Pro3054Arg)	80144	FRAS1	Uncertain significance	rs754878371	RCV001157470;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79420920	79420920	C	G	4:g.79420920C>G	-
NM_025074.7(FRAS1):c.9163G>A (p.Ala3055Thr)	80144	FRAS1	Uncertain significance	rs375885501	RCV001157471;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79420922	79420922	G	A	4:g.79420922G>A	-
NM_025074.7(FRAS1):c.9182C>T (p.Ala3061Val)	80144	FRAS1	Uncertain significance	rs886059637	RCV000372844;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79420941	79420941	C	T	NC_000004.11:g.79420941C>T	ClinGen:CA10619287	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9183G>A (p.Ala3061=)	80144	FRAS1	Benign	rs139589570	RCV000285466\|RCV000870934;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79420942	79420942	G	A	NC_000004.11:g.79420942G>A	ClinGen:CA2978605	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9252G>T (p.Arg3084=)	80144	FRAS1	Benign	rs11933630	RCV000246697\|RCV000342606\|RCV002058355;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79421011	79421011	G	T	4:g.79421011G>T	ClinGen:CA2978620	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9291G>A (p.Lys3097=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs376458338	RCV000376218\|RCV000865063;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79421050	79421050	G	A	NC_000004.11:g.79421050G>A	ClinGen:CA2978626	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs149692526	RCV000872021\|RCV001151993\|RCV001817014;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374	4	79421055	79421055	G	A	4:g.79421055G>A	-
NM_025074.7(FRAS1):c.9316+2T>A	80144	FRAS1	Pathogenic	rs1358085095	RCV001172406;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79421077	79421077	T	A	4:g.79421077T>A	-
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs200346497	RCV000179606\|RCV000207380\|RCV001151994;	N	MedGen:CN517202\|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79428622	79428622	C	T	4:g.79428622C>T	ClinGen:CA246910	CN235161 Anophthalmia - microphthalmia;
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs150680111	RCV000872022\|RCV001151995\|RCV001817015;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374	4	79428704	79428704	C	T	4:g.79428704C>T	-
NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter)	80144	FRAS1	Pathogenic	rs1227013948	RCV001172431;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79428724	79428724	G	T	4:g.79428724G>T	-
NM_025074.7(FRAS1):c.9478A>G (p.Ser3160Gly)	80144	FRAS1	Uncertain significance	rs763114326	RCV001151996;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79428736	79428736	A	G	4:g.79428736A>G	-
NM_025074.7(FRAS1):c.9505-4G>A	80144	FRAS1	Uncertain significance	rs367680303	RCV000284151;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79429881	79429881	G	A	NC_000004.11:g.79429881G>A	ClinGen:CA2978685	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9538G>A (p.Glu3180Lys)	80144	FRAS1	Uncertain significance	rs369950838	RCV001153257;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79429918	79429918	G	A	4:g.79429918G>A	-
NM_025074.7(FRAS1):c.9541G>A (p.Val3181Ile)	80144	FRAS1	Uncertain significance	rs1464507728	RCV001153258;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79429921	79429921	G	A	4:g.79429921G>A	-
NM_025074.7(FRAS1):c.9602C>T (p.Pro3201Leu)	80144	FRAS1	Uncertain significance	rs886059638	RCV000346175;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79429982	79429982	C	T	NC_000004.11:g.79429982C>T	ClinGen:CA10619290	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9607G>A (p.Asp3203Asn)	80144	FRAS1	Uncertain significance	rs540286890	RCV000396675;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79429987	79429987	G	A	NC_000004.11:g.79429987G>A	ClinGen:CA2978710	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9621del (p.Arg3208fs)	80144	FRAS1	Uncertain significance	rs1560418388	RCV000778742;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79429998	79429998	TC	T	NC_000004.11:g.79430001del	-
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs377369857	RCV000281353\|RCV001153259;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79430007	79430007	C	T	4:g.79430007C>T	ClinGen:CA2978715	CN169374 not specified;
NM_025074.7(FRAS1):c.9627C>A (p.Tyr3209Ter)	80144	FRAS1	Pathogenic	rs377369857	RCV001172436;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79430007	79430007	C	A	4:g.79430007C>A	-
NM_025074.7(FRAS1):c.9630T>C (p.Ala3210=)	80144	FRAS1	Uncertain significance	rs761161131	RCV000306470;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79430010	79430010	T	C	NC_000004.11:g.79430010T>C	ClinGen:CA2978717	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9658G>A (p.Gly3220Ser)	80144	FRAS1	Uncertain significance	rs552881646	RCV000344955;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79430038	79430038	G	A	NC_000004.11:g.79430038G>A	ClinGen:CA2978725	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9759A>G (p.Pro3253=)	80144	FRAS1	Benign	rs61741742	RCV000401830\|RCV000870807;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79430139	79430139	A	G	NC_000004.11:g.79430139A>G	ClinGen:CA2978746	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)	80144	FRAS1	Benign/Likely benign	rs61729366	RCV000179644\|RCV000315339\|RCV000577951\|RCV000872220;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|Human Phenotype Ontology:HP:0000776,Human Phenotype Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833, Orphanet:2140\|MedGen:CN517202	4	79432453	79432453	G	A	4:g.79432453G>A	ClinGen:CA203377	C0235833 142340 Congenital diaphragmatic hernia;
NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=)	80144	FRAS1	Benign	rs3749488	RCV000367732\|RCV002057965\|RCV001702011;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202\|MedGen:CN169374	4	79432455	79432455	A	C	NC_000004.11:g.79432455A>C	ClinGen:CA2978770	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala)	80144	FRAS1	Uncertain significance	rs78006948	RCV001155855\|RCV001573252;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79432474	79432474	T	C	4:g.79432474T>C	-
NM_025074.7(FRAS1):c.9853C>T (p.His3285Tyr)	80144	FRAS1	Benign/Likely benign	rs182196851	RCV000870931\|RCV001155856;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79432500	79432500	C	T	4:g.79432500C>T	-
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu)	80144	FRAS1	Benign	rs78619145	RCV000275489\|RCV000870653;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79432602	79432602	C	G	NC_000004.11:g.79432602C>G	ClinGen:CA2978810	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10002G>A (p.Glu3334=)	80144	FRAS1	Benign	rs80346282	RCV000300153\|RCV000865493;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79432649	79432649	G	A	NC_000004.11:g.79432649G>A	ClinGen:CA2978817	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=)	80144	FRAS1	Benign/Likely benign	rs76120498	RCV000357479\|RCV000873324;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79432655	79432655	G	A	NC_000004.11:g.79432655G>A	ClinGen:CA2978819	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10014-14del	80144	FRAS1	Uncertain significance	rs779194826	RCV000260277;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79434531	79434531	GC	G	NC_000004.11:g.79434532del	ClinGen:CA2978840	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10041C>G (p.His3347Gln)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs552676865	RCV001157554\|RCV002032458;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79434573	79434573	C	G	4:g.79434573C>G	-
NM_025074.7(FRAS1):c.10077G>A (p.Pro3359=)	80144	FRAS1	Benign/Likely benign	rs183724131	RCV000875622\|RCV001157555;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79434609	79434609	G	A	4:g.79434609G>A	-
NM_025074.7(FRAS1):c.10091A>G (p.His3364Arg)	80144	FRAS1	Uncertain significance	rs922004210	RCV001157556;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79434623	79434623	A	G	4:g.79434623A>G	-
NM_025074.7(FRAS1):c.10140T>A (p.Asn3380Lys)	80144	FRAS1	Uncertain significance	rs753588022	RCV001172437;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79434672	79434672	T	A	4:g.79434672T>A	-
NM_025074.7(FRAS1):c.10153T>G (p.Tyr3385Asp)	80144	FRAS1	Benign	rs35933858	RCV000253044\|RCV000317853\|RCV002058341;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79434685	79434685	T	G	NC_000004.11:g.79434685T>G	ClinGen:CA2978870	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro)	80144	FRAS1	Benign	rs137982616	RCV000873268\|RCV001157557;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79434692	79434692	T	C	4:g.79434692T>C	-
NM_025074.7(FRAS1):c.10166G>C (p.Gly3389Ala)	80144	FRAS1	Uncertain significance	rs745919146	RCV001157558;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79434698	79434698	G	C	4:g.79434698G>C	-
NM_025074.7(FRAS1):c.10174+1G>A	80144	FRAS1	Uncertain significance	rs1560420794	RCV000778743;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79434707	79434707	G	A	NC_000004.11:g.79434707G>A	-
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=)	80144	FRAS1	Benign	rs34034599	RCV000379498\|RCV000870654;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79437008	79437008	C	T	NC_000004.11:g.79437008C>T	ClinGen:CA2978893	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10249G>A (p.Asp3417Asn)	80144	FRAS1	Uncertain significance	rs373601771	RCV001157559;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79437027	79437027	G	A	4:g.79437027G>A	-
NM_025074.7(FRAS1):c.10269G>T (p.Pro3423=)	80144	FRAS1	Benign	rs34806279	RCV000268638\|RCV000865361;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79437047	79437047	G	T	NC_000004.11:g.79437047G>T	ClinGen:CA2978910	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10278C>T (p.Ile3426=)	80144	FRAS1	Benign	rs34678339	RCV000321330\|RCV000865362;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79437056	79437056	C	T	NC_000004.11:g.79437056C>T	ClinGen:CA2978914	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer)	80144	FRAS1	Pathogenic	rs886037765	RCV000257971;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79437065	79437065	AC	A	NC_000004.11:g.79437065del	ClinGen:CA10575842	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10299C>A (p.Asn3433Lys)	80144	FRAS1	Uncertain significance	rs377102088	RCV001152097;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79437077	79437077	C	A	4:g.79437077C>A	-
NM_025074.7(FRAS1):c.10377C>T (p.Thr3459=)	80144	FRAS1	Benign	rs3749487	RCV000244857\|RCV000378270\|RCV002058342;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79437155	79437155	C	T	NC_000004.11:g.79437155C>T	ClinGen:CA2978931	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10389+11C>T	80144	FRAS1	Benign	rs74632598	RCV000248810\|RCV000290835\|RCV002058343;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79437178	79437178	C	T	NC_000004.11:g.79437178C>T	ClinGen:CA2978937	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10390-6C>T	80144	FRAS1	Conflicting interpretations of pathogenicity	rs139412411	RCV000329374\|RCV002057966;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79440479	79440479	C	T	NC_000004.11:g.79440479C>T	ClinGen:CA2978955	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10390-5G>A	80144	FRAS1	Uncertain significance	rs753366978	RCV000381660;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79440480	79440480	G	A	NC_000004.11:g.79440480G>A	ClinGen:CA2978956	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10425C>T (p.His3475=)	80144	FRAS1	Benign/Likely benign	rs376096303	RCV000289608\|RCV000955144;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79440520	79440520	C	T	NC_000004.11:g.79440520C>T	ClinGen:CA2978963	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10442C>T (p.Ser3481Phe)	80144	FRAS1	Uncertain significance	rs886059640	RCV000351532;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79440537	79440537	C	T	NC_000004.11:g.79440537C>T	ClinGen:CA10618384	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10494C>T (p.Thr3498=)	80144	FRAS1	Benign	rs149604281	RCV000395253\|RCV002057967;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79440589	79440589	C	T	NC_000004.11:g.79440589C>T	ClinGen:CA2978978	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=)	80144	FRAS1	Benign/Likely benign	rs199921300	RCV000293521\|RCV000334777\|RCV000885162;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374\|MedGen:CN517202	4	79440634	79440634	A	G	4:g.79440634A>G	ClinGen:CA2978984	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10541-1G>A	80144	FRAS1	Pathogenic	rs1721385740	RCV001172438;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79442676	79442676	G	A	4:g.79442676G>A	-
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val)	80144	FRAS1	Benign/Likely benign	rs144715071	RCV000336848\|RCV000406248\|RCV000870808;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374\|MedGen:CN517202	4	79442730	79442730	A	G	4:g.79442730A>G	ClinGen:CA2979013	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10598G>A (p.Arg3533Gln)	80144	FRAS1	Benign	rs115878217	RCV000870848\|RCV001153365\|RCV001817001;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374	4	79442734	79442734	G	A	4:g.79442734G>A	-
NM_025074.7(FRAS1):c.10609C>T (p.Arg3537Cys)	80144	FRAS1	Uncertain significance	rs779521854	RCV000400178\|RCV000494230;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79442745	79442745	C	T	NC_000004.11:g.79442745C>T	ClinGen:CA2979020	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10610G>A (p.Arg3537His)	80144	FRAS1	Uncertain significance	rs547089905	RCV001153366;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79442746	79442746	G	A	4:g.79442746G>A	-
NM_025074.7(FRAS1):c.10648+13C>A	80144	FRAS1	Uncertain significance	rs886059641	RCV000297127;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79442797	79442797	C	A	NC_000004.11:g.79442797C>A	ClinGen:CA10621745	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10648+24_10648+25del	80144	FRAS1	Conflicting interpretations of pathogenicity	rs397994139	RCV000399918\|RCV002057968;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79442800	79442801	GTT	G	NC_000004.11:g.79442808_79442809del	ClinGen:CA2979030	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10648+25del	80144	FRAS1	Benign	rs397994139	RCV000354281\|RCV002061252;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79442800	79442800	GT	G	NC_000004.11:g.79442809del	ClinGen:CA2979029	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10649-29T>A	80144	FRAS1	Benign	-1	RCV001703309;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79443774	79443774	T	A	79443774	-
NM_025074.7(FRAS1):c.10683A>T (p.Glu3561Asp)	80144	FRAS1	Benign	rs931605	RCV000253563\|RCV000305288\|RCV002058344;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79443837	79443837	A	T	NC_000004.11:g.79443837A>T	ClinGen:CA2979047	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10689A>T (p.Lys3563Asn)	80144	FRAS1	Uncertain significance	rs886059643	RCV000357873;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79443843	79443843	A	T	NC_000004.11:g.79443843A>T	ClinGen:CA10618402	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile)	80144	FRAS1	Benign	rs931606	RCV000245288\|RCV000265442\|RCV002058345;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79443850	79443850	G	A	NC_000004.11:g.79443850G>A	ClinGen:CA2979050	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10724T>C (p.Ile3575Thr)	80144	FRAS1	Uncertain significance	rs202198985	RCV001155971;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79443878	79443878	T	C	4:g.79443878T>C	-
NM_025074.7(FRAS1):c.10743A>G (p.Leu3581=)	80144	FRAS1	Uncertain significance	rs886059644	RCV000327684;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79443897	79443897	A	G	NC_000004.11:g.79443897A>G	ClinGen:CA10619320	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10753G>A (p.Ala3585Thr)	80144	FRAS1	Uncertain significance	rs748159035	RCV001155972;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79443907	79443907	G	A	4:g.79443907G>A	-
NM_025074.7(FRAS1):c.10809-12G>T	80144	FRAS1	Uncertain significance	rs886059645	RCV000365952;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79447683	79447683	G	T	NC_000004.11:g.79447683G>T	ClinGen:CA10621746	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10809-11C>T	80144	FRAS1	Uncertain significance	rs1721539751	RCV001155973;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79447684	79447684	C	T	4:g.79447684C>T	-
NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter)	80144	FRAS1	Pathogenic	rs1006839535	RCV000782142;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79447706	79447706	C	G	4:g.79447706C>G	-
NM_025074.7(FRAS1):c.10852A>G (p.Thr3618Ala)	80144	FRAS1	Likely benign	rs192225415	RCV000269085;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79447738	79447738	A	G	NC_000004.11:g.79447738A>G	ClinGen:CA2979089	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10869G>A (p.Gln3623=)	80144	FRAS1	Uncertain significance	rs778772211	RCV000326546;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79447755	79447755	G	A	4:g.79447755G>A	ClinGen:CA2979091	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10877T>C (p.Val3626Ala)	80144	FRAS1	Benign	rs34670941	RCV000250854\|RCV000388114\|RCV002058346;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79447763	79447763	T	C	NC_000004.11:g.79447763T>C	ClinGen:CA2979092	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10999C>T (p.Gln3667Ter)	80144	FRAS1	Pathogenic	rs1721821279	RCV001172439;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79455676	79455676	C	T	4:g.79455676C>T	-
NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=)	80144	FRAS1	Benign	rs4975070	RCV000245809\|RCV000292730\|RCV001683114;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79455714	79455714	C	G	NC_000004.11:g.79455714C>G	ClinGen:CA2979122	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=)	80144	FRAS1	Benign	rs4975139	RCV000250559\|RCV000333665\|RCV001536205;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79455733	79455733	C	T	NC_000004.11:g.79455733C>T	ClinGen:CA2979124	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11073C>G (p.Tyr3691Ter)	80144	FRAS1	Likely pathogenic	-1	RCV001781129;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79455750	79455750	C	G	79455750	-
NM_025074.7(FRAS1):c.11111G>A (p.Arg3704Gln)	80144	FRAS1	Uncertain significance	rs141843124	RCV000388115;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79458167	79458167	G	A	4:g.79458167G>A	ClinGen:CA2979152	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11158C>T (p.Gln3720Ter)	80144	FRAS1	Pathogenic	rs1219344385	RCV001172410;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79458214	79458214	C	T	4:g.79458214C>T	-
NM_025074.7(FRAS1):c.11220G>A (p.Thr3740=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs182887871	RCV000279659\|RCV000911142;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79458276	79458276	G	A	4:g.79458276G>A	ClinGen:CA2979166	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11237A>C (p.Glu3746Ala)	80144	FRAS1	Uncertain significance	rs1721910256	RCV001152203;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79458293	79458293	A	C	4:g.79458293A>C	-
NM_025074.7(FRAS1):c.11252G>A (p.Gly3751Glu)	80144	FRAS1	Uncertain significance	rs1484025134	RCV001152204;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79458308	79458308	G	A	4:g.79458308G>A	-
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs199510509	RCV000334766\|RCV000388584;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79458320	79458320	C	T	4:g.79458320C>T	ClinGen:CA2979180	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11270_11273del (p.Lys3757fs)	80144	FRAS1	Pathogenic	rs1578380159	RCV000768557;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79458320	79458323	CCAAA	C	4:g.79458320_79458323del	-
NM_025074.7(FRAS1):c.11298+1G>A	80144	FRAS1	Pathogenic	rs371268544	RCV001172420;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79458355	79458355	G	A	4:g.79458355G>A	-
NM_025074.7(FRAS1):c.11299-8A>C	80144	FRAS1	Uncertain significance	rs368551584	RCV000394486;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79460440	79460440	A	C	4:g.79460440A>C	ClinGen:CA2979199	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11302C>T (p.Arg3768Cys)	80144	FRAS1	Uncertain significance	rs750736066	RCV000280709;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79460451	79460451	C	T	4:g.79460451C>T	ClinGen:CA2979201	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser)	80144	FRAS1	Uncertain significance	rs112039037	RCV000403674\|RCV000764553;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79460455	79460455	A	G	4:g.79460455A>G	ClinGen:CA2979202	CN169374 not specified;
NM_025074.7(FRAS1):c.11445+5_11445+11delinsC	80144	FRAS1	Likely pathogenic	rs1721982733	RCV001172440;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79460599	79460605	GTTTGGT	C	4:g.79460600_79460605del	-
NM_025074.7(FRAS1):c.11445+68_11445+69del	80144	FRAS1	Benign	rs3062747	RCV000987453;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79460648	79460649	GAA	G	4:g.79460648_79460649del	-
NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter)	80144	FRAS1	Pathogenic	rs765622092	RCV001172425;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79461712	79461712	C	T	4:g.79461712C>T	-
NM_025074.7(FRAS1):c.11475G>C (p.Gln3825His)	80144	FRAS1	Uncertain significance	rs1722015455	RCV001152205;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79461714	79461714	G	C	4:g.79461714G>C	-
NM_025074.7(FRAS1):c.11510G>C (p.Gly3837Ala)	80144	FRAS1	Uncertain significance	rs1722017063	RCV001152206;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79461749	79461749	G	C	4:g.79461749G>C	-
NM_025074.7(FRAS1):c.11559G>A (p.Arg3853=)	80144	FRAS1	Uncertain significance	rs989874672	RCV001153490;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79461798	79461798	G	A	4:g.79461798G>A	-
NM_025074.7(FRAS1):c.11589C>T (p.Ile3863=)	80144	FRAS1	Uncertain significance	rs763508870	RCV000340486;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79461828	79461828	C	T	4:g.79461828C>T	ClinGen:CA2979261	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val)	80144	FRAS1	Benign/Likely benign	rs145035489	RCV000283373\|RCV000394472\|RCV000870810;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79461844	79461844	A	G	4:g.79461844A>G	ClinGen:CA2979264	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11637T>C (p.Asn3879=)	80144	FRAS1	Uncertain significance	rs147734882	RCV001153491;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79461876	79461876	T	C	4:g.79461876T>C	-
NM_025074.7(FRAS1):c.11681C>T (p.Ala3894Val)	80144	FRAS1	Uncertain significance	rs772941624	RCV000305214\|RCV001861242;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79461920	79461920	C	T	4:g.79461920C>T	ClinGen:CA2979274	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11682G>A (p.Ala3894=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs376389151	RCV000902787\|RCV001153492;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79461921	79461921	G	A	4:g.79461921G>A	-
NM_025074.7(FRAS1):c.11690C>T (p.Ala3897Val)	80144	FRAS1	Uncertain significance	rs373595232	RCV000360016;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79461929	79461929	C	T	4:g.79461929C>T	ClinGen:CA2979277	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11695C>T (p.Leu3899=)	80144	FRAS1	Benign/Likely benign	rs367723684	RCV001153493\|RCV002070869;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79461934	79461934	C	T	4:g.79461934C>T	-
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs61748814	RCV000660411\|RCV001572828;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79461956	79461956	T	C	4:g.79461956T>C	-	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11718T>C (p.Ile3906=)	80144	FRAS1	Benign/Likely benign	rs142389362	RCV000343079\|RCV000399146\|RCV000870811;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79461957	79461957	T	C	4:g.79461957T>C	ClinGen:CA2979287	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11720G>T (p.Gly3907Val)	80144	FRAS1	Benign	rs61748815	RCV000864695\|RCV001156090\|RCV001729722;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374	4	79461959	79461959	G	T	4:g.79461959G>T	-
NM_025074.7(FRAS1):c.11724T>C (p.Ser3908=)	80144	FRAS1	Benign/Likely benign	rs151307846	RCV000279868\|RCV000306234\|RCV000870812;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79461963	79461963	T	C	4:g.79461963T>C	ClinGen:CA2979289	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11726C>T (p.Ala3909Val)	80144	FRAS1	Uncertain significance	rs367860092	RCV001156091;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79461965	79461965	C	T	4:g.79461965C>T	-
NM_025074.7(FRAS1):c.11811G>A (p.Lys3937=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs373149321	RCV000886339\|RCV001156092;	N	MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462050	79462050	G	A	4:g.79462050G>A	-
NM_025074.7(FRAS1):c.11815G>A (p.Ala3939Thr)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs375807410	RCV001156093\|RCV002070921;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79462054	79462054	G	A	4:g.79462054G>A	-
NM_025074.7(FRAS1):c.11882G>A (p.Arg3961Gln)	80144	FRAS1	Uncertain significance	rs370319615	RCV000365847;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462121	79462121	G	A	4:g.79462121G>A	ClinGen:CA2979321	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11895C>T (p.Asn3965=)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs372802938	RCV000271265\|RCV000915001;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	4	79462134	79462134	C	T	4:g.79462134C>T	ClinGen:CA2979325	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11897dup (p.Asn3967fs)	80144	FRAS1	Pathogenic	rs1560433104	RCV000782358;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462135	79462136	G	GT	4:g.79462135_79462136insT	-
NM_025074.7(FRAS1):c.11902A>G (p.Arg3968Gly)	80144	FRAS1	Uncertain significance	rs550166836	RCV000330920;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462141	79462141	A	G	4:g.79462141A>G	ClinGen:CA2979328	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln)	80144	FRAS1	Conflicting interpretations of pathogenicity	rs140492803	RCV000366948\|RCV000405453\|RCV000870813;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN169374\|MedGen:CN517202	4	79462146	79462146	C	G	4:g.79462146C>G	ClinGen:CA2979329	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11920C>T (p.Arg3974Trp)	80144	FRAS1	Uncertain significance	rs759074187	RCV000276616;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462159	79462159	C	T	4:g.79462159C>T	ClinGen:CA2979333	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11925C>T (p.Asn3975=)	80144	FRAS1	Uncertain significance	rs368578398	RCV000317661;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462164	79462164	C	T	4:g.79462164C>T	ClinGen:CA2979335	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*5G>A	80144	FRAS1	Uncertain significance	rs764066985	RCV001157784;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462283	79462283	G	A	4:g.79462283G>A	-
NM_025074.7(FRAS1):c.*33T>A	80144	FRAS1	Benign	rs72659058	RCV000372407;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462311	79462311	T	A	4:g.79462311T>A	ClinGen:CA2979360	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*78G>T	80144	FRAS1	Benign	rs77632937	RCV000263749;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462356	79462356	G	T	4:g.79462356G>T	ClinGen:CA10619327	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*84A>G	80144	FRAS1	Uncertain significance	rs886059646	RCV000318966;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462362	79462362	A	G	NC_000004.11:g.79462362A>G	ClinGen:CA10618432	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*117C>T	80144	FRAS1	Uncertain significance	rs886059647	RCV000378301;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462395	79462395	C	T	NC_000004.11:g.79462395C>T	ClinGen:CA10621750	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*122C>T	80144	FRAS1	Uncertain significance	rs886059648	RCV000283349;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462400	79462400	C	T	NC_000004.11:g.79462400C>T	ClinGen:CA10619328	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*219T>C	80144	FRAS1	Uncertain significance	rs145739907	RCV001152305;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462497	79462497	T	C	4:g.79462497T>C	-
NM_025074.7(FRAS1):c.*221G>A	80144	FRAS1	Uncertain significance	rs748263373	RCV001152306;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462499	79462499	G	A	4:g.79462499G>A	-
NM_025074.7(FRAS1):c.*258G>A	80144	FRAS1	Benign	rs114161007	RCV001152307;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462536	79462536	G	A	4:g.79462536G>A	-
NM_025074.7(FRAS1):c.*282A>T	80144	FRAS1	Benign	rs3749485	RCV000342970;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462560	79462560	A	T	NC_000004.11:g.79462560A>T	ClinGen:CA10621753	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*319A>G	80144	FRAS1	Uncertain significance	rs1722048477	RCV001152308;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462597	79462597	A	G	4:g.79462597A>G	-
NM_025074.7(FRAS1):c.*374C>T	80144	FRAS1	Uncertain significance	rs560026397	RCV000379512;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462652	79462652	C	T	NC_000004.11:g.79462652C>T	ClinGen:CA10618434	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*388C>G	80144	FRAS1	Benign	rs75970105	RCV000289772;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462666	79462666	C	G	NC_000004.11:g.79462666C>G	ClinGen:CA10621749	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*391C>T	80144	FRAS1	Likely benign	rs564787250	RCV001153591;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462669	79462669	C	T	4:g.79462669C>T	-
NM_025074.7(FRAS1):c.*415A>G	80144	FRAS1	Uncertain significance	rs759045899	RCV001153592;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462693	79462693	A	G	4:g.79462693A>G	-
NM_025074.7(FRAS1):c.*455C>T	80144	FRAS1	Uncertain significance	rs774956318	RCV001153593;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462733	79462733	C	T	4:g.79462733C>T	-
NM_025074.7(FRAS1):c.*460A>G	80144	FRAS1	Uncertain significance	rs760216437	RCV000344629;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462738	79462738	A	G	NC_000004.11:g.79462738A>G	ClinGen:CA10619329	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*503T>C	80144	FRAS1	Benign	rs3749484	RCV000399062;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462781	79462781	T	C	NC_000004.11:g.79462781T>C	ClinGen:CA10621762	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*518dup	80144	FRAS1	Benign	rs397752464	RCV000309498;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462793	79462794	A	AT	NC_000004.11:g.79462796dup	ClinGen:CA10618438	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*530G>A	80144	FRAS1	Uncertain significance	rs544866402	RCV000350325;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462808	79462808	G	A	NC_000004.11:g.79462808G>A	ClinGen:CA10621767	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*708C>A	80144	FRAS1	Benign	rs111636328	RCV000401953;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462986	79462986	C	A	NC_000004.11:g.79462986C>A	ClinGen:CA10621763	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*709G>A	80144	FRAS1	Benign	rs115458096	RCV000315379;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79462987	79462987	G	A	NC_000004.11:g.79462987G>A	ClinGen:CA10618441	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*731C>G	80144	FRAS1	Benign	rs116483248	RCV000369247;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463009	79463009	C	G	NC_000004.11:g.79463009C>G	ClinGen:CA10618445	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*751T>G	80144	FRAS1	Benign	rs6832584	RCV000260448;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463029	79463029	T	G	NC_000004.11:g.79463029T>G	ClinGen:CA10619330	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*761A>G	80144	FRAS1	Uncertain significance	rs975095044	RCV001156207;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463039	79463039	A	G	4:g.79463039A>G	-
NM_025074.7(FRAS1):c.*808C>T	80144	FRAS1	Benign	rs59820455	RCV000296870;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463086	79463086	C	T	NC_000004.11:g.79463086C>T	ClinGen:CA10621768	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*824T>G	80144	FRAS1	Uncertain significance	rs1218870035	RCV001156208;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463102	79463102	T	G	4:g.79463102T>G	-
NM_025074.7(FRAS1):c.*880C>A	80144	FRAS1	Uncertain significance	rs886059649	RCV000356377;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463158	79463158	C	A	NC_000004.11:g.79463158C>A	ClinGen:CA10621775	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*893C>G	80144	FRAS1	Uncertain significance	rs563929109	RCV000261787;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463171	79463171	C	G	NC_000004.11:g.79463171C>G	ClinGen:CA10621786	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*897T>G	80144	FRAS1	Uncertain significance	rs1722072306	RCV001157882;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463175	79463175	T	G	4:g.79463175T>G	-
NM_025074.7(FRAS1):c.*926C>T	80144	FRAS1	Uncertain significance	rs1227739524	RCV001157883;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463204	79463204	C	T	4:g.79463204C>T	-
NM_025074.7(FRAS1):c.*938A>G	80144	FRAS1	Uncertain significance	rs559819253	RCV000321662;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463216	79463216	A	G	NC_000004.11:g.79463216A>G	ClinGen:CA10618447	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*957G>C	80144	FRAS1	Uncertain significance	rs886059650	RCV000376194;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463235	79463235	G	C	NC_000004.11:g.79463235G>C	ClinGen:CA10621787	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*985G>A	80144	FRAS1	Uncertain significance	rs1722075087	RCV001157884;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463263	79463263	G	A	4:g.79463263G>A	-
NM_025074.7(FRAS1):c.*1085C>T	80144	FRAS1	Likely benign	rs570309641	RCV000267707;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463363	79463363	C	T	NC_000004.11:g.79463363C>T	ClinGen:CA10621796	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1210G>A	80144	FRAS1	Uncertain significance	rs886059651	RCV000322909;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463488	79463488	G	A	NC_000004.11:g.79463488G>A	ClinGen:CA10618450	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1289G>A	80144	FRAS1	Benign	rs113324102	RCV000382128;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463567	79463567	G	A	NC_000004.11:g.79463567G>A	ClinGen:CA10619334	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1301G>A	80144	FRAS1	Benign	rs3210826	RCV000287806;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463579	79463579	G	A	NC_000004.11:g.79463579G>A	ClinGen:CA10621797	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1303G>A	80144	FRAS1	Uncertain significance	rs1167568461	RCV001152410;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463581	79463581	G	A	4:g.79463581G>A	-
NM_025074.7(FRAS1):c.*1345C>T	80144	FRAS1	Uncertain significance	rs886059652	RCV000347474;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463623	79463623	C	T	NC_000004.11:g.79463623C>T	ClinGen:CA10621798	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1384C>T	80144	FRAS1	Uncertain significance	rs771590846	RCV000383430;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463662	79463662	C	T	NC_000004.11:g.79463662C>T	ClinGen:CA10618452	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1444T>C	80144	FRAS1	Uncertain significance	rs569011445	RCV001152411;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463722	79463722	T	C	4:g.79463722T>C	-
NM_025074.7(FRAS1):c.*1547C>G	80144	FRAS1	Uncertain significance	rs186398273	RCV001152412;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463825	79463825	C	G	4:g.79463825C>G	-
NM_025074.7(FRAS1):c.*1578T>C	80144	FRAS1	Uncertain significance	rs776119595	RCV001152413;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463856	79463856	T	C	4:g.79463856T>C	-
NM_025074.7(FRAS1):c.*1613C>T	80144	FRAS1	Uncertain significance	rs952918668	RCV001153682;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463891	79463891	C	T	4:g.79463891C>T	-
NM_025074.7(FRAS1):c.*1616C>T	80144	FRAS1	Uncertain significance	rs1722098731	RCV001153683;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463894	79463894	C	T	4:g.79463894C>T	-
NM_025074.7(FRAS1):c.*1666G>A	80144	FRAS1	Uncertain significance	rs1374310535	RCV001153684;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463944	79463944	G	A	4:g.79463944G>A	-
NM_025074.7(FRAS1):c.*1669A>C	80144	FRAS1	Uncertain significance	rs886059653	RCV000293971;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463947	79463947	A	C	NC_000004.11:g.79463947A>C	ClinGen:CA10618453	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1698G>C	80144	FRAS1	Uncertain significance	rs1303968996	RCV001153685;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79463976	79463976	G	C	4:g.79463976G>C	-
NM_025074.7(FRAS1):c.*1741T>G	80144	FRAS1	Uncertain significance	rs772863115	RCV001153686;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464019	79464019	T	G	4:g.79464019T>G	-
NM_025074.7(FRAS1):c.*1752T>C	80144	FRAS1	Uncertain significance	rs762849572	RCV001153687;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464030	79464030	T	C	4:g.79464030T>C	-
NM_025074.7(FRAS1):c.*1787G>A	80144	FRAS1	Uncertain significance	rs549532188	RCV000348876;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464065	79464065	G	A	NC_000004.11:g.79464065G>A	ClinGen:CA10621800	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1810C>T	80144	FRAS1	Uncertain significance	rs1029985381	RCV001153688;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464088	79464088	C	T	4:g.79464088C>T	-
NM_025074.7(FRAS1):c.*1814G>A	80144	FRAS1	Benign	rs17003321	RCV000395423;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464092	79464092	G	A	NC_000004.11:g.79464092G>A	ClinGen:CA10621769	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1995G>T	80144	FRAS1	Benign	rs72873318	RCV000298548;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464273	79464273	G	T	NC_000004.11:g.79464273G>T	ClinGen:CA10621783	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2028C>G	80144	FRAS1	Uncertain significance	rs1027128705	RCV001156293;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464306	79464306	C	G	4:g.79464306C>G	-
NM_025074.7(FRAS1):c.*2091T>C	80144	FRAS1	Uncertain significance	rs764203320	RCV000334852;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464369	79464369	T	C	NC_000004.11:g.79464369T>C	ClinGen:CA10621808	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2154C>T	80144	FRAS1	Benign	rs3811747	RCV000395453;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464432	79464432	C	T	4:g.79464432C>T	ClinGen:CA10621784	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2223G>A	80144	FRAS1	Uncertain significance	rs1722113270	RCV001156294;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464501	79464501	G	A	4:g.79464501G>A	-
NM_025074.7(FRAS1):c.*2261C>T	80144	FRAS1	Uncertain significance	rs886059654	RCV000299732;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464539	79464539	C	T	4:g.79464539C>T	ClinGen:CA10618454	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2294G>A	80144	FRAS1	Uncertain significance	rs988779314	RCV001157965;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464572	79464572	G	A	4:g.79464572G>A	-
NM_025074.7(FRAS1):c.*2324G>A	80144	FRAS1	Likely benign	rs186095111	RCV000358998;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464602	79464602	G	A	4:g.79464602G>A	ClinGen:CA10621792	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2350C>T	80144	FRAS1	Uncertain significance	rs886059655	RCV000264265;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464628	79464628	C	T	4:g.79464628C>T	ClinGen:CA10618462	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2369C>T	80144	FRAS1	Uncertain significance	rs959327675	RCV001157966;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464647	79464647	C	T	4:g.79464647C>T	-
NM_025074.7(FRAS1):c.*2370G>A	80144	FRAS1	Benign	rs116617672	RCV000305480;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464648	79464648	G	A	4:g.79464648G>A	ClinGen:CA10618466	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2489T>C	80144	FRAS1	Benign	rs11098227	RCV000360200;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464767	79464767	T	C	4:g.79464767T>C	ClinGen:CA10619345	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2490G>A	80144	FRAS1	Uncertain significance	rs186193838	RCV001157967;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464768	79464768	G	A	4:g.79464768G>A	-
NM_025074.7(FRAS1):c.*2512C>T	80144	FRAS1	Uncertain significance	rs886059656	RCV000269947;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464790	79464790	C	T	4:g.79464790C>T	ClinGen:CA10621794	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2672A>G	80144	FRAS1	Likely benign	rs144020017	RCV000324993;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464950	79464950	A	G	4:g.79464950A>G	ClinGen:CA10621799	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2700G>A	80144	FRAS1	Benign	rs11098228	RCV000365626;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79464978	79464978	G	A	4:g.79464978G>A	ClinGen:CA10621802	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2811T>A	80144	FRAS1	Benign	rs114574352	RCV000271036;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79465089	79465089	T	A	4:g.79465089T>A	ClinGen:CA10618467	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2824_2825insTTTT	80144	FRAS1	Benign	rs397724155	RCV000331007;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79465100	79465101	A	ATTTT	4:g.79465100_79465101insTTTT	ClinGen:CA10621805	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2931del	80144	FRAS1	Likely benign	rs139811866	RCV000385536;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79465209	79465209	TA	T	4:g.79465209_79465209del	ClinGen:CA10621810	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2941A>T	80144	FRAS1	Uncertain significance	rs1259558413	RCV001152508;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79465219	79465219	A	T	4:g.79465219A>T	-
NM_025074.7(FRAS1):c.*2951A>T	80144	FRAS1	Uncertain significance	rs1722136952	RCV001152509;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79465229	79465229	A	T	4:g.79465229A>T	-
NM_025074.7(FRAS1):c.*2957T>A	80144	FRAS1	Uncertain significance	rs553394027	RCV000295922;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79465235	79465235	T	A	4:g.79465235T>A	ClinGen:CA10619346	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*3092A>G	80144	FRAS1	Benign	rs17003335	RCV000332139;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79465370	79465370	A	G	4:g.79465370A>G	ClinGen:CA10621811	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*3142G>T	80144	FRAS1	Likely benign	rs183140136	RCV000373476;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79465420	79465420	G	T	4:g.79465420G>T	ClinGen:CA10618468	C0265233 219000 Cryptophthalmos syndrome;
NM_025074.6(FRAS1):c.3146_3149delTTTG	80144	FRAS1	Likely benign	rs148508826	RCV000297090;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	4	79465424	79465427	TTTTG	T	4:g.79465424_79465427del	ClinGen:CA10654674	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.5(FREM2):c.-285C>G	341640	FREM2	Uncertain significance	rs573143355	RCV000309662;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39261197	39261197	C	G	NC_000013.10:g.39261197C>G	ClinGen:CA10644372	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.135G>T (p.Pro45=)	341640	FREM2	Uncertain significance	rs886050186	RCV000335661;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39261616	39261616	G	T	13:g.39261616G>T	ClinGen:CA10644390	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.576G>A (p.Glu192=)	341640	FREM2	Benign	rs1868464	RCV000250281\|RCV000347448\|RCV001094138\|RCV001683149\|RCV001701927;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666\|MedGen:CN517202\|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570, Orphanet:91396	13	39262057	39262057	G	A	13:g.39262057G>A	ClinGen:CA6954237	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.2233= (p.Pro745=)	341640	FREM2	Benign	rs2496423	RCV000173610\|RCV000357309\|RCV001094162\|RCV002054052;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666\|MedGen:CN517202	13	39263714	39263714	T	C	13:g.39263714T>C	ClinGen:CA200643	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.2250C>T (p.Asp750=)	341640	FREM2	Benign	rs41292755	RCV000173611\|RCV000405344\|RCV001094163\|RCV002054053;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666\|MedGen:CN517202	13	39263731	39263731	C	T	13:g.39263731C>T	ClinGen:CA200645	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)	341640	FREM2	Benign/Likely benign	rs2496425	RCV000173599\|RCV000380412\|RCV001094147\|RCV001701776\|RCV001618326;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666\|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570, Orphanet:91396\|MedGen:CN517202	13	39264690	39264690	T	C	13:g.39264690T>C	ClinGen:CA200635	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr)	341640	FREM2	Uncertain significance	rs767743882	RCV000662066\|RCV000662065;	N	MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39343807	39343807	G	A	13:g.39343807G>A	-	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs)	341640	FREM2	Likely pathogenic	rs752032044	RCV000826108;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39422776	39422777	CCA	C	13:g.39422776_39422777del	-
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile)	341640	FREM2	Benign	rs9548509	RCV000241670\|RCV000369162\|RCV001094086\|RCV001610764\|RCV001701832;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666\|MedGen:CN517202\|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570, Orphanet:91396	13	39430314	39430314	C	T	NC_000013.10:g.39430314C>T	ClinGen:CA6955734	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.7520-5del	341640	FREM2	Benign/Likely benign	rs36084034	RCV000289348\|RCV002056383;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	13	39435553	39435553	CT	C	NC_000013.10:g.39435563del	ClinGen:CA6955897	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)	341640	FREM2	Benign/Likely benign	rs116099212	RCV000176440\|RCV000224494\|RCV000989101\|RCV001110834;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666	13	39453010	39453010	G	A	13:g.39453010G>A	ClinGen:CA201942	CN517202 not provided;
NM_207361.6(FREM2):c.1666_1667del	341640	FREM2	Uncertain significance	rs534520921	RCV000386617;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39456590	39456591	CTG	C	NC_000013.10:g.39456590_39456591del	ClinGen:CA10643435	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*1897CCTTT[3]	341640	FREM2	Uncertain significance	rs886050201	RCV000390064;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39456820	39456821	C	CCCTTT	13:g.39456820_39456821insCCTTT	ClinGen:CA10639512	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.2390_2392del	341640	FREM2	Likely benign	rs149897768	RCV000312459;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39457314	39457316	CAGA	C	13:g.39457314_39457316del	ClinGen:CA10644453	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*2458G>C	341640	FREM2	Uncertain significance	rs886050203	RCV000277222;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39457382	39457382	G	C	13:g.39457382G>C	ClinGen:CA10634319	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*3718A>G	341640	FREM2	Uncertain significance	rs886050208	RCV000335797;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39458642	39458642	A	G	NC_000013.10:g.39458642A>G	ClinGen:CA10644458	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5530TTG[1]	341640	FREM2	Uncertain significance	rs886050212	RCV000374822;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39460453	39460455	AGTT	A	NC_000013.10:g.39460454TTG[1]	ClinGen:CA10639531	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5552CA[6]	341640	FREM2	Uncertain significance	rs886050213	RCV000348299;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39460475	39460476	TAC	T	NC_000013.10:g.39460476CA[6]	ClinGen:CA10634354	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5552C>T	341640	FREM2	Uncertain significance	rs886050214	RCV000401610;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39460476	39460476	C	T	NC_000013.10:g.39460476C>T	ClinGen:CA10644469	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5590TA[6]	341640	FREM2	Uncertain significance	rs34936389	RCV000345748;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39460512	39460513	C	CAT	NC_000013.10:g.39460514TA[6]	ClinGen:CA10644478	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5600GA[7]	341640	FREM2	Uncertain significance	rs5802960	RCV000267139;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39460522	39460523	T	TAG	13:g.39460522_39460523insAG	ClinGen:CA10639534	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.5615_5616insG	341640	FREM2	Uncertain significance	rs886050216	RCV000296053;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39460539	39460540	A	AG	NC_000013.10:g.39460539_39460540insG	ClinGen:CA10644481	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5627del	341640	FREM2	Benign	rs5802961	RCV000385673;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39460540	39460540	AT	A	13:g.39460540_39460540del	ClinGen:CA10644483	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5870del	341640	FREM2	Uncertain significance	rs886050220	RCV000347531;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39460792	39460792	TC	T	13:g.39460792_39460792del	ClinGen:CA10643460	C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.6148_6151del	341640	FREM2	Uncertain significance	rs886050221	RCV000401046;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	13	39461072	39461075	ACATT	A	13:g.39461072_39461075del	ClinGen:CA10634355	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1559dup	23426	GRIP1	Uncertain significance	rs886049786	RCV000292149;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66741239	66741240	T	TA	NC_000012.11:g.66741243dup	ClinGen:CA10638413	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.1548_1551dup	23426	GRIP1	Uncertain significance	rs886049787	RCV000349520;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66741247	66741248	C	CTGTT	NC_000012.11:g.66741249_66741252dup	ClinGen:CA10633491	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.1524_1527del	23426	GRIP1	Likely benign	rs148261691	RCV000373835;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66741272	66741275	TTTTA	T	NC_000012.11:g.66741275_66741278del	ClinGen:CA10638414	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.1495_1497dup	23426	GRIP1	Uncertain significance	rs553937765	RCV000281731;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66741301	66741302	A	AATT	NC_000012.11:g.66741302_66741304dup	ClinGen:CA10633492	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.1422_1426del	23426	GRIP1	Uncertain significance	rs886049788	RCV000334443;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66741373	66741377	ATACTT	A	NC_000012.11:g.66741376_66741380del	ClinGen:CA10642355	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.1388_1390dup	23426	GRIP1	Uncertain significance	rs886049789	RCV000390700;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66741408	66741409	A	AAAT	NC_000012.11:g.66741410_66741412dup	ClinGen:CA10643223	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.1299_1301dup	23426	GRIP1	Likely benign	rs200995788	RCV000397406;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66741497	66741498	G	GTGA	NC_000012.11:g.66741499_66741501dup	ClinGen:CA10638416	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1261dup	23426	GRIP1	Conflicting interpretations of pathogenicity	rs35499444	RCV000366384;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66741537	66741538	A	AT	NC_000012.11:g.66741547dup	ClinGen:CA10638425	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1261del	23426	GRIP1	Benign	rs35499444	RCV000308024;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66741538	66741538	AT	A	NC_000012.11:g.66741547del	ClinGen:CA10638424	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*752TAT[3]	23426	GRIP1	Uncertain significance	rs148302164	RCV000262519;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66742041	66742042	G	GATA	NC_000012.11:g.66742042ATA[3]	ClinGen:CA10643229	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.753_757del	23426	GRIP1	Uncertain significance	rs886049793	RCV000319962;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66742042	66742046	GATAAT	G	NC_000012.11:g.66742046_66742050del	ClinGen:CA10638435	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.735_738dup	23426	GRIP1	Uncertain significance	rs551666983	RCV000372545;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66742060	66742061	A	ATGTT	NC_000012.11:g.66742062_66742065dup	ClinGen:CA10633494	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.723_725dup	23426	GRIP1	Uncertain significance	rs886049794	RCV000280372;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66742073	66742074	A	ACTC	NC_000012.11:g.66742074_66742076dup	ClinGen:CA10642362	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.695_697dup	23426	GRIP1	Likely benign	rs201977256	RCV000380569;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66742101	66742102	C	CTAT	NC_000012.11:g.66742104_66742106dup	ClinGen:CA10643233	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*679dup	23426	GRIP1	Uncertain significance	rs367709432	RCV000282787;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66742119	66742120	T	TA	NC_000012.11:g.66742129dup	ClinGen:CA10633495	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.655_657dup	23426	GRIP1	Likely benign	rs138816960	RCV000340093;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66742141	66742142	A	ACAT	NC_000012.11:g.66742142_66742144dup	ClinGen:CA10642363	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.647_650dup	23426	GRIP1	Likely benign	rs200677568	RCV000404098;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66742148	66742149	C	CTGTT	NC_000012.11:g.66742151_66742154dup	ClinGen:CA10638437	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.85_87dup	23426	GRIP1	Uncertain significance	rs553542220	RCV000355925;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66742711	66742712	T	TATC	12:g.66742711_66742712insATC	ClinGen:CA10643237	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.2464+15T>C	23426	GRIP1	Benign	rs7970076	RCV000252195\|RCV000290142\|RCV001094207\|RCV001597023;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667\|MedGen:CN517202	12	66786073	66786073	A	G	12:g.66786073A>G	ClinGen:CA6674124	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu)	23426	GRIP1	Benign	rs13277	RCV000247437\|RCV000328734\|RCV001094208\|RCV001683102;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667\|MedGen:CN517202	12	66786091	66786091	G	C	12:g.66786091G>C	ClinGen:CA6674128	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.2361G>A (p.Lys787=)	23426	GRIP1	Uncertain significance	rs886049797	RCV000380986;	N	MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052	12	66786191	66786191	C	T	12:g.66786191C>T	ClinGen:CA10633500	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.1838+13G>T	23426	GRIP1	Benign	rs7397862	RCV000244279\|RCV000351116\|RCV001094088\|RCV002058308;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667\|MedGen:CN517202	12	66814487	66814487	C	A	12:g.66814487C>A	ClinGen:CA6674274	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.1355-10_1355-8del	23426	GRIP1	Benign/Likely benign	rs148083271	RCV000174157\|RCV000334394\|RCV000965245;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MedGen:CN517202	12	66839296	66839298	GAAC	G	12:g.66839296_66839298del	ClinGen:CA200851	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.724+10G>A	23426	GRIP1	Benign	rs12316942	RCV000249539\|RCV000264282\|RCV001094175\|RCV002058309;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667\|MedGen:CN517202	12	66909389	66909389	C	T	12:g.66909389C>T	ClinGen:CA6674563	C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.503-15C>A	23426	GRIP1	Benign	rs11838180	RCV000244788\|RCV000273033\|RCV001094212\|RCV001610722;	N	MedGen:CN169374\|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052\|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667\|MedGen:CN517202	12	66911771	66911771	G	T	12:g.66911771G>T	ClinGen:CA6674612	C0265233 219000 Cryptophthalmos syndrome;

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