Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)	SNV Germline	Chr9:14792753	Likely pathogenic	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA219848	rs_281875281	6 SubmittersRCV000023743 RCV000059638
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)	SNV Germline	Chr9:14842561	Conflicting classifications of pathogenicity	Trigonocephaly 2 Condition: not provided Rieger anomaly Irido-corneo-trabecular dysgenesis Oculotrichoanal syndrome BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA129451	rs_184394424	10 SubmittersRCV000023746 RCV000059636 RCV000207399 RCV000988143 RCV005042084
NM_001379081.2(FREM1):c.6271G>A (p.Val2091Ile)	SNV Germline	Chr9:14740218	Pathogenic	Condition: not provided Oculotrichoanal syndrome	No Assertion Criteria Provided	CA219849	rs_281875282	2 SubmittersRCV000059641 RCV002291556
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=)	SNV Germline	Chr9:14806788	Conflicting classifications of pathogenicity	not specified Condition: not provided Oculotrichoanal syndrome	Criteria Provided Conflicting Classifications	CA241243	rs_200894045	6 SubmittersRCV000175489 RCV000907658 RCV001169035
NM_001379081.2(FREM1):c.3485A>G (p.Gln1162Arg)	SNV Germline	Chr9:14801861	Conflicting classifications of pathogenicity	not specified Condition: not provided FREM1-related disorder	Criteria Provided Conflicting Classifications	CA201863	rs_113555227	4 SubmittersRCV000176237 RCV000880848 RCV003907583
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser)	SNV Germline	Chr9:14801715	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA242107	rs_76714828	4 SubmittersRCV000176238 RCV002516703
NM_001379081.2(FREM1):c.261C>T (p.Asn87=)	SNV Germline	Chr9:14863877	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome BNAR syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA245477	rs_370943663	3 SubmittersRCV000178389 RCV002485168
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp)	SNV Germline	Chr9:14859273	Conflicting classifications of pathogenicity	Condition: not provided FREM1-related disorder	Criteria Provided Conflicting Classifications	CA246254	rs_200482899	3 SubmittersRCV000179012 RCV003977470
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg)	SNV Germline	Chr9:14859243	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome	Criteria Provided Conflicting Classifications	CA246256	rs_370556388	3 SubmittersRCV000179013 RCV001166249
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)	SNV Germline	Chr9:14784400	Conflicting classifications of pathogenicity	not specified Oculotrichoanal syndrome Trigonocephaly 2 Oculotrichoanal syndrome BNAR syndrome Trigonocephaly 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA249047	rs_200650442	8 SubmittersRCV000202844 RCV001168977 RCV001331739 RCV002478723 RCV002515510 RCV004020500
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)	SNV Germline	Chr9:14842660	Conflicting classifications of pathogenicity	Congenital diaphragmatic hernia not specified Oculotrichoanal syndrome Condition: not provided Lung cancer Familial pancreatic carcinoma Gastric cancer Uterine corpus endometrial carcinoma Acute myeloid leukemia Ovarian serous cystadenocarcinoma Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA339661	rs_41298151	7 SubmittersRCV000203291 RCV000249912 RCV000289080 RCV002057046 RCV005893692 RCV005893688 RCV005893689 RCV005893693 RCV005893687 RCV005893690 RCV005893691
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=)	SNV Germline	Chr9:14747040	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA4989574	rs_200987019	2 SubmittersRCV000349900
NM_001379081.2(FREM1):c.3471+9C>T	SNV Germline	Chr9:14804947	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4990554	rs_377668876	4 SubmittersRCV000300422 RCV001168302 RCV003909984
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr)	SNV Germline	Chr9:14792792	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4990363	rs_182527895	4 SubmittersRCV000372255 RCV001166083 RCV002522003
NM_001379081.2(FREM1):c.2526T>C (p.Asp842=)	SNV Germline	Chr9:14819254	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4990905	rs_373202724	2 SubmittersRCV000346979 RCV005090607
NM_001379081.2(FREM1):c.324T>A (p.Leu108=)	SNV Germline	Chr9:14863814	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4991623	rs_781396064	3 SubmittersRCV000387840 RCV002523772
NM_001379081.2(FREM1):c.207C>T (p.Thr69=)	SNV Germline	Chr9:14868771	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4991666	rs_528445853	2 SubmittersRCV000329787 RCV005055943
NM_001379081.2(FREM1):c.6465A>G (p.Gln2155=)	SNV Germline	Chr9:14737471	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4989380	rs_368790874	3 SubmittersRCV000345719 RCV000963230
NM_001379081.2(FREM1):c.5956C>T (p.Leu1986=)	SNV Germline	Chr9:14747317	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4989605	rs_375669260	4 SubmittersRCV000317894 RCV003430966 RCV003897815
NM_001379081.2(FREM1):c.4754A>G (p.Asp1585Gly)	SNV Germline	Chr9:14775892	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4990075	rs_544905717	2 SubmittersRCV000305251 RCV000912397
NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=)	SNV Germline	Chr9:14797581	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided Oculotrichoanal syndrome Trigonocephaly 2 BNAR syndrome FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4990426	rs_373197206	5 SubmittersRCV000304694 RCV003430967 RCV002488826 RCV003972545
NM_001379081.2(FREM1):c.3359A>T (p.Gln1120Leu)	SNV Germline	Chr9:14805068	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4990586	rs_143844459	4 SubmittersRCV000369261 RCV000894514 RCV003932518
NM_001379081.2(FREM1):c.2727C>T (p.Ile909=)	SNV Germline	Chr9:14812978	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4990832	rs_750374714	2 SubmittersRCV000286222 RCV002058788
NM_001379081.2(FREM1):c.2169+11A>C	SNV Germline	Chr9:14824014	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4991016	rs_377670533	3 SubmittersRCV000299990 RCV000513941
NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser)	SNV Germline	Chr9:14776094	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided Oculotrichoanal syndrome Trigonocephaly 2 BNAR syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4990134	rs_775792241	5 SubmittersRCV000365627 RCV001358636 RCV002481256 RCV004022113
NM_001379081.2(FREM1):c.533C>T (p.Ala178Val)	SNV Germline	Chr9:14859281	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4991544	rs_201834847	4 SubmittersRCV000366397 RCV001850935 RCV002523771
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys)	SNV Germline	Chr9:14748575	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4989694	rs_61745612	4 SubmittersRCV000424842 RCV000731490 RCV005562355
NM_001379081.2(FREM1):c.454C>T (p.Gln152Ter)	SNV Germline	Chr9:14859360	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA4991573	rs_774044026	1 SubmittersRCV000429460
NM_001379081.2(FREM1):c.5205-1G>T	SNV Germline	Chr9:14759902	Likely pathogenic	Condition: not provided Oculotrichoanal syndrome Trigonocephaly 2 BNAR syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16621871	rs_1064797351	2 SubmittersRCV000488096 RCV005044734
NM_001379081.2(FREM1):c.3910G>T (p.Glu1304Ter)	SNV Germline	Chr9:14792814	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372967049	rs_1131691724	1 SubmittersRCV000494530
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met)	SNV Germline	Chr9:14769773	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome Oculotrichoanal syndrome BNAR syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA4989882	rs_201617511	5 SubmittersRCV000595555 RCV001168921 RCV002483582
NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter)	SNV Germline	Chr9:14770723	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA4989959	rs_373880888	2 SubmittersRCV000733533
NM_001379081.2(FREM1):c.6231G>T (p.Ala2077=)	SNV Germline	Chr9:14746376	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome	Criteria Provided Conflicting Classifications	CA4989495	rs_148735553	2 SubmittersRCV000888383 RCV001165968
NM_001379081.2(FREM1):c.3874C>T (p.Arg1292Cys)	SNV Germline	Chr9:14792850	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4990381	rs_199806592	4 SubmittersRCV000879629 RCV001166553 RCV003948289
NM_001379081.2(FREM1):c.3331C>T (p.His1111Tyr)	SNV Germline	Chr9:14805096	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4990595	rs_200339767	4 SubmittersRCV000894515 RCV001169034 RCV003940759
NM_001379081.2(FREM1):c.246C>T (p.Cys82=)	SNV Germline	Chr9:14863892	Conflicting classifications of pathogenicity	Condition: not provided BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA4991637	rs_766485109	3 SubmittersRCV000893389 RCV002495403
NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=)	SNV Germline	Chr9:14740231	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome BNAR syndrome	Criteria Provided Conflicting Classifications	CA4989463	rs_187325866	6 SubmittersRCV000905863 RCV001165967 RCV005055394
NM_001379081.2(FREM1):c.4945A>G (p.Ile1649Val)	SNV Germline	Chr9:14770719	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4989956	rs_199891537	4 SubmittersRCV000904364 RCV001166026 RCV004028545
NM_001379081.2(FREM1):c.2212C>G (p.Gln738Glu)	SNV Germline	Chr9:14823285	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4990997	rs_182946445	5 SubmittersRCV000901045 RCV001169119 RCV005392523 RCV004753096
NM_001379081.2(FREM1):c.4442+3G>A	SNV Germline	Chr9:14784367	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4990188	rs_181859461	4 SubmittersRCV000903428 RCV001168976 RCV003912903
NM_001379081.2(FREM1):c.5448C>T (p.Asp1816=)	SNV Germline	Chr9:14750236	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome	Criteria Provided Conflicting Classifications	CA4989751	rs_374311778	2 SubmittersRCV000914420 RCV001168158
NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu)	SNV Germline	Chr9:14857586	Conflicting classifications of pathogenicity	Condition: not provided FREM1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4991470	rs_140222993	4 SubmittersRCV000917561 RCV003950849 RCV004029414
NM_001379081.2(FREM1):c.4801C>A (p.Gln1601Lys)	SNV Germline	Chr9:14775845	Conflicting classifications of pathogenicity	Condition: not provided FREM1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4990064	rs_550726565	3 SubmittersRCV000943119 RCV003411902 RCV004973186
NM_001379081.2(FREM1):c.5670T>C (p.Phe1890=)	SNV Germline	Chr9:14748527	Conflicting classifications of pathogenicity	Condition: not provided Oculotrichoanal syndrome	Criteria Provided Conflicting Classifications	CA4989681	rs_756654353	2 SubmittersRCV000978439 RCV001168157
NM_001379081.2(FREM1):c.6363T>C (p.Ala2121=)	SNV Germline	Chr9:14737573	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA463876452	rs_1211739234	2 SubmittersRCV001165963 RCV006557072
NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser)	SNV Germline	Chr9:14770785	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4989977	rs_370198850	4 SubmittersRCV001166028 RCV002068013 RCV003953555
NM_001379081.2(FREM1):c.4626C>T (p.Leu1542=)	SNV Germline	Chr9:14776020	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome FREM1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA4990113	rs_367674769	3 SubmittersRCV001168229 RCV003898163 RCV005093707
NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=)	SNV Germline	Chr9:14776146	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA4990146	rs_561131255	3 SubmittersRCV001168975 RCV002480580 RCV003558738
NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg)	SNV Germline	Chr9:14789027	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided BNAR syndrome Oculotrichoanal syndrome BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA4990309	rs_775399423	5 SubmittersRCV001166079 RCV002558619 RCV004726911 RCV002483924
NM_001379081.2(FREM1):c.3813T>A (p.Val1271=)	SNV Germline	Chr9:14797524	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA4990410	rs_745782166	3 SubmittersRCV001166554 RCV002483927 RCV002557432
NM_001379081.2(FREM1):c.3517G>T (p.Ala1173Ser)	SNV Germline	Chr9:14801829	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4990519	rs_564039071	4 SubmittersRCV001168300 RCV002557447 RCV002480577 RCV005831790
NM_001379081.2(FREM1):c.3340A>T (p.Ile1114Leu)	SNV Germline	Chr9:14805087	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4990593	rs_369645961	5 SubmittersRCV001169033 RCV003727937 RCV005039996 RCV004032911
NM_001379081.2(FREM1):c.3146C>G (p.Ser1049Cys)	SNV Germline	Chr9:14806789	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4990671	rs_199961802	5 SubmittersRCV001169036 RCV001873561 RCV003928770
NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser)	SNV Germline	Chr9:14808132	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided Inborn genetic diseases BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA4990747	rs_373345277	5 SubmittersRCV001166133 RCV003442218 RCV004978075 RCV002491478
NM_001379081.2(FREM1):c.2450G>A (p.Arg817Gln)	SNV Germline	Chr9:14819330	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided Thymoma BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA4990924	rs_200495440	5 SubmittersRCV001168369 RCV002559615 RCV005908872 RCV002480578
NM_001379081.2(FREM1):c.1053C>T (p.His351=)	SNV Germline	Chr9:14851383	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4991380	rs_371463084	2 SubmittersRCV001168431 RCV002558668
NM_001379081.2(FREM1):c.1038T>C (p.Thr346=)	SNV Germline	Chr9:14851398	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4991383	rs_773920119	2 SubmittersRCV001253980 RCV002069349
NM_001379081.2(FREM1):c.597T>G (p.Arg199=)	SNV Germline	Chr9:14859217	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4991525	rs_756646275	2 SubmittersRCV001166248 RCV005056973
NM_001379081.2(FREM1):c.-12G>C	SNV Germline	Chr9:14868989	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome BNAR syndrome Oculotrichoanal syndrome	Criteria Provided Conflicting Classifications	CA189371622	rs_375233918	2 SubmittersRCV001169220 RCV004726912
NM_001379081.2(FREM1):c.5204+8C>G	SNV Germline	Chr9:14769716	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided BNAR syndrome	Criteria Provided Conflicting Classifications	CA4989870	rs_376644135	3 SubmittersRCV001168919 RCV002557459 RCV005367736
NM_001379081.2(FREM1):c.2640+7A>G	SNV Germline	Chr9:14816771	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4990867	rs_772475006	2 SubmittersRCV001166618 RCV002068019
NM_001379081.2(FREM1):c.329+10A>C	SNV Germline	Chr9:14863799	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4991618	rs_369341108	2 SubmittersRCV001166771 RCV002559598
NM_001379081.2(FREM1):c.329+7G>A	SNV Germline	Chr9:14863802	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4991619	rs_180917208	3 SubmittersRCV001166772 RCV003546672 RCV003898161
NM_001379081.2(FREM1):c.2641-1G>T	SNV Germline	Chr9:14813065	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372953918	rs_2133577966	1 SubmittersRCV001377307
NM_001379081.2(FREM1):c.3274+4A>G	SNV Germline	Chr9:14806657	Conflicting classifications of pathogenicity	Condition: not provided BNAR syndrome Trigonocephaly 2 BNAR syndrome Oculotrichoanal syndrome	Criteria Provided Conflicting Classifications	CA4990637	rs_761999855	3 SubmittersRCV001532635 RCV005255683 RCV004796637
NM_001379081.2(FREM1):c.3784A>T (p.Lys1262Ter)	SNV Germline	Chr9:14797553	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372967325	rs_2133202137	1 SubmittersRCV001814582
NM_001379081.2(FREM1):c.4178-1G>A	SNV Germline	Chr9:14784635	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372966448	rs_2132864714	1 SubmittersRCV001783313
NM_001379081.2(FREM1):c.1288C>T (p.Arg430Ter)	SNV Germline	Chr9:14846065	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA4991303	rs_369363695	1 SubmittersRCV001781133
NM_001379081.2(FREM1):c.631C>T (p.Gln211Ter)	SNV Germline	Chr9:14859183	Pathogenic/Likely pathogenic	BNAR syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA372963586	rs_990411562	2 SubmittersRCV001836680 RCV006468070
NM_001379081.2(FREM1):c.829-1G>C	SNV Germline	Chr9:14851608	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372962662	rs_1244506651	1 SubmittersRCV002019235
NM_001379081.2(FREM1):c.5854A>T (p.Ile1952Leu)	SNV Germline	Chr9:14747419	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4989627	rs_201002953	3 SubmittersRCV002032221 RCV004044874
NM_001379081.2(FREM1):c.3694+1G>T	SNV Germline	Chr9:14801651	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372967532	rs_1187630820	1 SubmittersRCV002024463
NM_001379081.2(FREM1):c.1393+6T>C	SNV Germline	Chr9:14845954	Conflicting classifications of pathogenicity	Condition: not provided Sarcoma	Criteria Provided Conflicting Classifications	CA4991268	rs_145871721	3 SubmittersRCV002014125 RCV005925623
NM_001379081.2(FREM1):c.3094G>A (p.Val1032Met)	SNV Germline	Chr9:14806841	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA4990681	rs_544959201	3 SubmittersRCV001948413 RCV002560687 RCV005042547
NM_001379081.2(FREM1):c.1520G>A (p.Arg507His)	SNV Germline	Chr9:14842534	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA4991209	rs_202115210	2 SubmittersRCV002146031
NM_001379081.2(FREM1):c.4312C>T (p.Arg1438Ter)	SNV Germline	Chr9:14784500	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372966182	rs_1563921179	1 SubmittersRCV002291976
NM_001379081.2(FREM1):c.3619G>C (p.Glu1207Gln)	SNV Germline	Chr9:14801727	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4990481	rs_61744094	2 SubmittersRCV003085262 RCV003269452
NM_001379081.2(FREM1):c.581G>A (p.Arg194Gln)	SNV Germline	Chr9:14859233	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4991530	rs_748464182	3 SubmittersRCV003368011 RCV002610780 RCV004753633
NM_001379081.2(FREM1):c.3045C>T (p.Ile1015=)	SNV Germline	Chr9:14807983	Conflicting classifications of pathogenicity	Condition: not provided BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA4990714	rs_371960930	2 SubmittersRCV002606307 RCV005045325
NM_001379081.2(FREM1):c.6139-2A>G	SNV Germline	Chr9:14746470	Likely pathogenic	Condition: not provided BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Multiple Submitters No Conflicts	CA4989521	rs_200778244	4 SubmittersRCV002595823 RCV005045326
NM_001379081.2(FREM1):c.674C>T (p.Pro225Leu)	SNV Germline	Chr9:14857707	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4991493	rs_185836404	2 SubmittersRCV002607619 RCV004978706
NM_001379081.2(FREM1):c.5801G>A (p.Arg1934His)	SNV Germline	Chr9:14747724	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA4989642	rs_778288375	3 SubmittersRCV002572072 RCV004973440 RCV005042861
NM_001379081.2(FREM1):c.5335-8C>A	SNV Germline	Chr9:14756454	Conflicting classifications of pathogenicity	Condition: not provided FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4989786	rs_551754962	3 SubmittersRCV002590885 RCV003903729
NM_001379081.2(FREM1):c.3300C>A (p.Asn1100Lys)	SNV Germline	Chr9:14805127	Conflicting classifications of pathogenicity	Condition: not provided BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4990604	rs_373880710	3 SubmittersRCV002765369 RCV005044961 RCV005565290
NM_001379081.2(FREM1):c.234+1G>T	SNV Germline	Chr9:14868743	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372965409	rs_1188199694	1 SubmittersRCV002843661
NM_001379081.2(FREM1):c.5205-1G>C	SNV Germline	Chr9:14759902	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372960052	rs_1064797351	1 SubmittersRCV002862344
NM_001379081.2(FREM1):c.5603C>T (p.Thr1868Ile)	SNV Germline	Chr9:14748594	Conflicting classifications of pathogenicity	Inborn genetic diseases BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA4989699	rs_375631654	2 SubmittersRCV002915163 RCV005047344
NM_001379081.2(FREM1):c.4471G>A (p.Glu1491Lys)	SNV Germline	Chr9:14776175	Conflicting classifications of pathogenicity	Inborn genetic diseases FREM1-related disorder	Criteria Provided Conflicting Classifications	CA4990155	rs_190325959	2 SubmittersRCV002759616 RCV003410255
NM_001379081.2(FREM1):c.2T>C (p.Met1Thr)	SNV Germline	Chr9:14868976	Pathogenic	BNAR syndrome	Criteria Provided Single Submitter	CA372965896	rs_1464587064	1 SubmittersRCV003389094
NM_001379081.2(FREM1):c.3535C>A (p.Pro1179Thr)	SNV Germline	Chr9:14801811	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372967861	rs_1381393162	1 SubmittersRCV003441549
NM_001379081.2(FREM1):c.3439G>T (p.Glu1147Ter)	SNV Germline	Chr9:14804988	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372968079	rs_1818090088	1 SubmittersRCV003553361
NM_001379081.2(FREM1):c.4738C>T (p.Arg1580Trp)	SNV Germline	Chr9:14775908	Conflicting classifications of pathogenicity	Condition: not provided FREM1-related disorder Trigonocephaly 2 BNAR syndrome Oculotrichoanal syndrome	Criteria Provided Conflicting Classifications	CA4990080	rs_375476655	3 SubmittersRCV003556700 RCV003966495 RCV005047661
NM_001379081.2(FREM1):c.2078+1G>T	SNV Germline	Chr9:14824795	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA372956852	rs_2538012142	1 SubmittersRCV003697885
NM_001379081.2(FREM1):c.3840-2A>G	SNV Germline	Chr9:14792886	Likely pathogenic	Condition: not provided Trigonocephaly 2 BNAR syndrome Oculotrichoanal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA372967198	rs_1380643285	2 SubmittersRCV003707145 RCV005047795
NM_001379081.2(FREM1):c.6282C>A (p.Phe2094Leu)	SNV Germline	Chr9:14740207	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA372952515	rs_1279639790	2 SubmittersRCV003837399 RCV005335940
NM_001379081.2(FREM1):c.5556A>G (p.Gly1852=)	SNV Germline	Chr9:14750128	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA463875663	rs_2539237550	1 SubmittersRCV003853369
NM_001379081.2(FREM1):c.4644G>A (p.Gln1548=)	SNV Germline	Chr9:14776002	Conflicting classifications of pathogenicity	FREM1-related disorder BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA4990106	rs_373755380	3 SubmittersRCV003943942 RCV005040617 RCV006613166
NM_001379081.2(FREM1):c.2722G>N (p.Val908Xaa)	SNV Germline	Chr9:14812983	Pathogenic	BNAR syndrome	Criteria Provided Single Submitter		rs_2537702433	1 SubmittersRCV003983750
NM_001379081.2(FREM1):c.5205-2A>G	SNV Germline	Chr9:14759903	Conflicting classifications of pathogenicity	Oculotrichoanal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4989845	rs_781342502	2 SubmittersRCV003989434 RCV004588529
NM_001379081.2(FREM1):c.1540G>A (p.Val514Ile)	SNV Germline	Chr9:14842514	Conflicting classifications of pathogenicity	Inborn genetic diseases BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Conflicting Classifications	CA4991202	rs_778272482	2 SubmittersRCV004394597 RCV005040640
NM_001379081.2(FREM1):c.595C>T (p.Arg199Cys)	SNV Germline	Chr9:14859219	Conflicting classifications of pathogenicity	Inborn genetic diseases BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV004621410 RCV005040728 RCV006264328
NM_001379081.2(FREM1):c.1016C>G (p.Ala339Gly)	SNV Germline	Chr9:14851420	Conflicting classifications of pathogenicity	FREM1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV004753812 RCV005643644
NM_001379081.2(FREM1):c.5205-1G>A	SNV Germline	Chr9:14759902	Likely pathogenic	FREM1-related disorder BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			2 SubmittersRCV004752550 RCV005358141
NM_001379081.2(FREM1):c.3289A>T (p.Lys1097Ter)	SNV Germline	Chr9:14805138	Pathogenic	FREM1-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV004783307
NM_001379081.2(FREM1):c.1261+1G>T	SNV Germline	Chr9:14848664	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005049079
NM_001379081.2(FREM1):c.508G>T (p.Glu170Ter)	SNV Germline	Chr9:14859306	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005046390
NM_001379081.2(FREM1):c.6139-2A>C	SNV Germline	Chr9:14746470	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005046201 RCV006489291
NM_001379081.2(FREM1):c.6122G>A (p.Trp2041Ter)	SNV Germline	Chr9:14746939	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005046202
NM_001379081.2(FREM1):c.5845-2A>C	SNV Germline	Chr9:14747430	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005046212
NM_001379081.2(FREM1):c.5761C>T (p.Gln1921Ter)	SNV Germline	Chr9:14748436	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005046215
NM_001379081.2(FREM1):c.4961G>A (p.Arg1654His)	SNV Germline	Chr9:14770703	Conflicting classifications of pathogenicity	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005046235 RCV005336056
NM_001379081.2(FREM1):c.4857+1G>A	SNV Germline	Chr9:14775788	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005046242
NM_001379081.2(FREM1):c.4612C>G (p.Pro1538Ala)	SNV Germline	Chr9:14776034	Conflicting classifications of pathogenicity	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005046247 RCV005336057
NM_001379081.2(FREM1):c.4027C>T (p.Gln1343Ter)	SNV Germline	Chr9:14789069	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005046261
NM_001379081.2(FREM1):c.3758T>A (p.Leu1253Ter)	SNV Germline	Chr9:14797579	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005046275
NM_001379081.2(FREM1):c.3622A>T (p.Asn1208Tyr)	SNV Germline	Chr9:14801724	Conflicting classifications of pathogenicity	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005046285 RCV005336058
NM_001379081.2(FREM1):c.3274+1G>A	SNV Germline	Chr9:14806660	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005046302
NM_001379081.2(FREM1):c.2883C>G (p.Tyr961Ter)	SNV Germline	Chr9:14812822	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005046317
NM_001379081.2(FREM1):c.2361G>A (p.Val787=)	SNV Germline	Chr9:14819419	Conflicting classifications of pathogenicity	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005046343 RCV006489294
NM_001379081.2(FREM1):c.2212C>T (p.Gln738Ter)	SNV Germline	Chr9:14823285	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005046349
NM_001379081.2(FREM1):c.2079-1G>T	SNV Germline	Chr9:14824116	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome Trigonocephaly 2	Criteria Provided Single Submitter			1 SubmittersRCV005046354
NM_001379081.2(FREM1):c.2079-8C>G	SNV Germline	Chr9:14824123	Conflicting classifications of pathogenicity	BNAR syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005055418 RCV005063369
NM_001379081.2(FREM1):c.1153-2A>G	SNV Germline	Chr9:14848775	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005175229
NM_001379081.2(FREM1):c.741T>G (p.Tyr247Ter)	SNV Germline	Chr9:14857640	Likely pathogenic	BNAR syndrome Oculotrichoanal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005233159
NM_001379081.2(FREM1):c.6373G>T (p.Glu2125Ter)	SNV Germline	Chr9:14737563	Likely pathogenic	BNAR syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005413266
NM_001379081.2(FREM1):c.3493G>T (p.Glu1165Ter)	SNV Germline	Chr9:14801853	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005636420
NM_001379081.2(FREM1):c.5059+1G>A	SNV Germline	Chr9:14770604	Likely pathogenic	BNAR syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006258341
NM_001379081.2(FREM1):c.5220G>A (p.Trp1740Ter)	SNV Germline	Chr9:14759886	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006525289
NM_001379081.2(FREM1):c.1738+1G>C	SNV Germline	Chr9:14842315	Likely pathogenic	FREM1-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV006646898
NM_001379081.2(FREM1):c.2078+1G>A	SNV Germline	Chr9:14824795	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006699007

NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)

SNV
Germline

Chr9:14792753

Likely pathogenic

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA219848

rs_281875281

6 SubmittersRCV000023743 RCV000059638

NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)

SNV
Germline

Chr9:14842561

Conflicting classifications of pathogenicity

Trigonocephaly 2
Condition: not provided
Rieger anomaly
Irido-corneo-trabecular dysgenesis
Oculotrichoanal syndrome
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA129451

rs_184394424

10 SubmittersRCV000023746 RCV000059636 RCV000207399 RCV000988143 RCV005042084

NM_001379081.2(FREM1):c.6271G>A (p.Val2091Ile)

SNV
Germline

Chr9:14740218

Pathogenic

Condition: not provided
Oculotrichoanal syndrome

No Assertion Criteria Provided

CA219849

rs_281875282

2 SubmittersRCV000059641 RCV002291556

NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=)

SNV
Germline

Chr9:14806788

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Oculotrichoanal syndrome

Criteria Provided
Conflicting Classifications

CA241243

rs_200894045

6 SubmittersRCV000175489 RCV000907658 RCV001169035

NM_001379081.2(FREM1):c.3485A>G (p.Gln1162Arg)

SNV
Germline

Chr9:14801861

Conflicting classifications of pathogenicity

not specified
Condition: not provided
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA201863

rs_113555227

4 SubmittersRCV000176237 RCV000880848 RCV003907583

NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser)

SNV
Germline

Chr9:14801715

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA242107

rs_76714828

4 SubmittersRCV000176238 RCV002516703

NM_001379081.2(FREM1):c.261C>T (p.Asn87=)

SNV
Germline

Chr9:14863877

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome
BNAR syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA245477

rs_370943663

3 SubmittersRCV000178389 RCV002485168

NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp)

SNV
Germline

Chr9:14859273

Conflicting classifications of pathogenicity

Condition: not provided
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA246254

rs_200482899

3 SubmittersRCV000179012 RCV003977470

NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg)

SNV
Germline

Chr9:14859243

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome

Criteria Provided
Conflicting Classifications

CA246256

rs_370556388

3 SubmittersRCV000179013 RCV001166249

NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)

SNV
Germline

Chr9:14784400

Conflicting classifications of pathogenicity

not specified
Oculotrichoanal syndrome
Trigonocephaly 2
Oculotrichoanal syndrome
BNAR syndrome
Trigonocephaly 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA249047

rs_200650442

8 SubmittersRCV000202844 RCV001168977 RCV001331739 RCV002478723 RCV002515510 RCV004020500

NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)

SNV
Germline

Chr9:14842660

Conflicting classifications of pathogenicity

Congenital diaphragmatic hernia
not specified
Oculotrichoanal syndrome
Condition: not provided
Lung cancer
Familial pancreatic carcinoma
Gastric cancer
Uterine corpus endometrial carcinoma
Acute myeloid leukemia
Ovarian serous cystadenocarcinoma
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA339661

rs_41298151

7 SubmittersRCV000203291 RCV000249912 RCV000289080 RCV002057046 RCV005893692 RCV005893688 RCV005893689 RCV005893693 RCV005893687 RCV005893690 RCV005893691

NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=)

SNV
Germline

Chr9:14747040

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA4989574

rs_200987019

2 SubmittersRCV000349900

NM_001379081.2(FREM1):c.3471+9C>T

SNV
Germline

Chr9:14804947

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4990554

rs_377668876

4 SubmittersRCV000300422 RCV001168302 RCV003909984

NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr)

SNV
Germline

Chr9:14792792

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4990363

rs_182527895

4 SubmittersRCV000372255 RCV001166083 RCV002522003

NM_001379081.2(FREM1):c.2526T>C (p.Asp842=)

SNV
Germline

Chr9:14819254

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4990905

rs_373202724

2 SubmittersRCV000346979 RCV005090607

NM_001379081.2(FREM1):c.324T>A (p.Leu108=)

SNV
Germline

Chr9:14863814

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4991623

rs_781396064

3 SubmittersRCV000387840 RCV002523772

NM_001379081.2(FREM1):c.207C>T (p.Thr69=)

SNV
Germline

Chr9:14868771

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4991666

rs_528445853

2 SubmittersRCV000329787 RCV005055943

NM_001379081.2(FREM1):c.6465A>G (p.Gln2155=)

SNV
Germline

Chr9:14737471

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4989380

rs_368790874

3 SubmittersRCV000345719 RCV000963230

NM_001379081.2(FREM1):c.5956C>T (p.Leu1986=)

SNV
Germline

Chr9:14747317

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4989605

rs_375669260

4 SubmittersRCV000317894 RCV003430966 RCV003897815

NM_001379081.2(FREM1):c.4754A>G (p.Asp1585Gly)

SNV
Germline

Chr9:14775892

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4990075

rs_544905717

2 SubmittersRCV000305251 RCV000912397

NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=)

SNV
Germline

Chr9:14797581

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
Oculotrichoanal syndrome
Trigonocephaly 2
BNAR syndrome
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4990426

rs_373197206

5 SubmittersRCV000304694 RCV003430967 RCV002488826 RCV003972545

NM_001379081.2(FREM1):c.3359A>T (p.Gln1120Leu)

SNV
Germline

Chr9:14805068

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4990586

rs_143844459

4 SubmittersRCV000369261 RCV000894514 RCV003932518

NM_001379081.2(FREM1):c.2727C>T (p.Ile909=)

SNV
Germline

Chr9:14812978

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4990832

rs_750374714

2 SubmittersRCV000286222 RCV002058788

NM_001379081.2(FREM1):c.2169+11A>C

SNV
Germline

Chr9:14824014

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4991016

rs_377670533

3 SubmittersRCV000299990 RCV000513941

NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser)

SNV
Germline

Chr9:14776094

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
Oculotrichoanal syndrome
Trigonocephaly 2
BNAR syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4990134

rs_775792241

5 SubmittersRCV000365627 RCV001358636 RCV002481256 RCV004022113

NM_001379081.2(FREM1):c.533C>T (p.Ala178Val)

SNV
Germline

Chr9:14859281

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4991544

rs_201834847

4 SubmittersRCV000366397 RCV001850935 RCV002523771

NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys)

SNV
Germline

Chr9:14748575

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4989694

rs_61745612

4 SubmittersRCV000424842 RCV000731490 RCV005562355

NM_001379081.2(FREM1):c.454C>T (p.Gln152Ter)

SNV
Germline

Chr9:14859360

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA4991573

rs_774044026

1 SubmittersRCV000429460

NM_001379081.2(FREM1):c.5205-1G>T

SNV
Germline

Chr9:14759902

Likely pathogenic

Condition: not provided
Oculotrichoanal syndrome
Trigonocephaly 2
BNAR syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16621871

rs_1064797351

2 SubmittersRCV000488096 RCV005044734

NM_001379081.2(FREM1):c.3910G>T (p.Glu1304Ter)

SNV
Germline

Chr9:14792814

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372967049

rs_1131691724

1 SubmittersRCV000494530

NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met)

SNV
Germline

Chr9:14769773

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome
Oculotrichoanal syndrome
BNAR syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA4989882

rs_201617511

5 SubmittersRCV000595555 RCV001168921 RCV002483582

NM_001379081.2(FREM1):c.4941C>A (p.Tyr1647Ter)

SNV
Germline

Chr9:14770723

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA4989959

rs_373880888

2 SubmittersRCV000733533

NM_001379081.2(FREM1):c.6231G>T (p.Ala2077=)

SNV
Germline

Chr9:14746376

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome

Criteria Provided
Conflicting Classifications

CA4989495

rs_148735553

2 SubmittersRCV000888383 RCV001165968

NM_001379081.2(FREM1):c.3874C>T (p.Arg1292Cys)

SNV
Germline

Chr9:14792850

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4990381

rs_199806592

4 SubmittersRCV000879629 RCV001166553 RCV003948289

NM_001379081.2(FREM1):c.3331C>T (p.His1111Tyr)

SNV
Germline

Chr9:14805096

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4990595

rs_200339767

4 SubmittersRCV000894515 RCV001169034 RCV003940759

NM_001379081.2(FREM1):c.246C>T (p.Cys82=)

SNV
Germline

Chr9:14863892

Conflicting classifications of pathogenicity

Condition: not provided
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA4991637

rs_766485109

3 SubmittersRCV000893389 RCV002495403

NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=)

SNV
Germline

Chr9:14740231

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome
BNAR syndrome

Criteria Provided
Conflicting Classifications

CA4989463

rs_187325866

6 SubmittersRCV000905863 RCV001165967 RCV005055394

NM_001379081.2(FREM1):c.4945A>G (p.Ile1649Val)

SNV
Germline

Chr9:14770719

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4989956

rs_199891537

4 SubmittersRCV000904364 RCV001166026 RCV004028545

NM_001379081.2(FREM1):c.2212C>G (p.Gln738Glu)

SNV
Germline

Chr9:14823285

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4990997

rs_182946445

5 SubmittersRCV000901045 RCV001169119 RCV005392523 RCV004753096

NM_001379081.2(FREM1):c.4442+3G>A

SNV
Germline

Chr9:14784367

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4990188

rs_181859461

4 SubmittersRCV000903428 RCV001168976 RCV003912903

NM_001379081.2(FREM1):c.5448C>T (p.Asp1816=)

SNV
Germline

Chr9:14750236

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome

Criteria Provided
Conflicting Classifications

CA4989751

rs_374311778

2 SubmittersRCV000914420 RCV001168158

NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu)

SNV
Germline

Chr9:14857586

Conflicting classifications of pathogenicity

Condition: not provided
FREM1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4991470

rs_140222993

4 SubmittersRCV000917561 RCV003950849 RCV004029414

NM_001379081.2(FREM1):c.4801C>A (p.Gln1601Lys)

SNV
Germline

Chr9:14775845

Conflicting classifications of pathogenicity

Condition: not provided
FREM1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4990064

rs_550726565

3 SubmittersRCV000943119 RCV003411902 RCV004973186

NM_001379081.2(FREM1):c.5670T>C (p.Phe1890=)

SNV
Germline

Chr9:14748527

Conflicting classifications of pathogenicity

Condition: not provided
Oculotrichoanal syndrome

Criteria Provided
Conflicting Classifications

CA4989681

rs_756654353

2 SubmittersRCV000978439 RCV001168157

NM_001379081.2(FREM1):c.6363T>C (p.Ala2121=)

SNV
Germline

Chr9:14737573

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA463876452

rs_1211739234

2 SubmittersRCV001165963 RCV006557072

NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser)

SNV
Germline

Chr9:14770785

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4989977

rs_370198850

4 SubmittersRCV001166028 RCV002068013 RCV003953555

NM_001379081.2(FREM1):c.4626C>T (p.Leu1542=)

SNV
Germline

Chr9:14776020

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
FREM1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4990113

rs_367674769

3 SubmittersRCV001168229 RCV003898163 RCV005093707

NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=)

SNV
Germline

Chr9:14776146

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4990146

rs_561131255

3 SubmittersRCV001168975 RCV002480580 RCV003558738

NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg)

SNV
Germline

Chr9:14789027

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
BNAR syndrome
Oculotrichoanal syndrome
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA4990309

rs_775399423

5 SubmittersRCV001166079 RCV002558619 RCV004726911 RCV002483924

NM_001379081.2(FREM1):c.3813T>A (p.Val1271=)

SNV
Germline

Chr9:14797524

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4990410

rs_745782166

3 SubmittersRCV001166554 RCV002483927 RCV002557432

NM_001379081.2(FREM1):c.3517G>T (p.Ala1173Ser)

SNV
Germline

Chr9:14801829

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4990519

rs_564039071

4 SubmittersRCV001168300 RCV002557447 RCV002480577 RCV005831790

NM_001379081.2(FREM1):c.3340A>T (p.Ile1114Leu)

SNV
Germline

Chr9:14805087

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4990593

rs_369645961

5 SubmittersRCV001169033 RCV003727937 RCV005039996 RCV004032911

NM_001379081.2(FREM1):c.3146C>G (p.Ser1049Cys)

SNV
Germline

Chr9:14806789

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4990671

rs_199961802

5 SubmittersRCV001169036 RCV001873561 RCV003928770

NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser)

SNV
Germline

Chr9:14808132

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
Inborn genetic diseases
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA4990747

rs_373345277

5 SubmittersRCV001166133 RCV003442218 RCV004978075 RCV002491478

NM_001379081.2(FREM1):c.2450G>A (p.Arg817Gln)

SNV
Germline

Chr9:14819330

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
Thymoma
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA4990924

rs_200495440

5 SubmittersRCV001168369 RCV002559615 RCV005908872 RCV002480578

NM_001379081.2(FREM1):c.1053C>T (p.His351=)

SNV
Germline

Chr9:14851383

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4991380

rs_371463084

2 SubmittersRCV001168431 RCV002558668

NM_001379081.2(FREM1):c.1038T>C (p.Thr346=)

SNV
Germline

Chr9:14851398

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4991383

rs_773920119

2 SubmittersRCV001253980 RCV002069349

NM_001379081.2(FREM1):c.597T>G (p.Arg199=)

SNV
Germline

Chr9:14859217

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4991525

rs_756646275

2 SubmittersRCV001166248 RCV005056973

NM_001379081.2(FREM1):c.-12G>C

SNV
Germline

Chr9:14868989

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
BNAR syndrome
Oculotrichoanal syndrome

Criteria Provided
Conflicting Classifications

CA189371622

rs_375233918

2 SubmittersRCV001169220 RCV004726912

NM_001379081.2(FREM1):c.5204+8C>G

SNV
Germline

Chr9:14769716

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
BNAR syndrome

Criteria Provided
Conflicting Classifications

CA4989870

rs_376644135

3 SubmittersRCV001168919 RCV002557459 RCV005367736

NM_001379081.2(FREM1):c.2640+7A>G

SNV
Germline

Chr9:14816771

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4990867

rs_772475006

2 SubmittersRCV001166618 RCV002068019

NM_001379081.2(FREM1):c.329+10A>C

SNV
Germline

Chr9:14863799

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4991618

rs_369341108

2 SubmittersRCV001166771 RCV002559598

NM_001379081.2(FREM1):c.329+7G>A

SNV
Germline

Chr9:14863802

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4991619

rs_180917208

3 SubmittersRCV001166772 RCV003546672 RCV003898161

NM_001379081.2(FREM1):c.2641-1G>T

SNV
Germline

Chr9:14813065

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372953918

rs_2133577966

1 SubmittersRCV001377307

NM_001379081.2(FREM1):c.3274+4A>G

SNV
Germline

Chr9:14806657

Conflicting classifications of pathogenicity

Condition: not provided
BNAR syndrome
Trigonocephaly 2
BNAR syndrome
Oculotrichoanal syndrome

Criteria Provided
Conflicting Classifications

CA4990637

rs_761999855

3 SubmittersRCV001532635 RCV005255683 RCV004796637

NM_001379081.2(FREM1):c.3784A>T (p.Lys1262Ter)

SNV
Germline

Chr9:14797553

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372967325

rs_2133202137

1 SubmittersRCV001814582

NM_001379081.2(FREM1):c.4178-1G>A

SNV
Germline

Chr9:14784635

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372966448

rs_2132864714

1 SubmittersRCV001783313

NM_001379081.2(FREM1):c.1288C>T (p.Arg430Ter)

SNV
Germline

Chr9:14846065

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA4991303

rs_369363695

1 SubmittersRCV001781133

NM_001379081.2(FREM1):c.631C>T (p.Gln211Ter)

SNV
Germline

Chr9:14859183

Pathogenic/Likely pathogenic

BNAR syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA372963586

rs_990411562

2 SubmittersRCV001836680 RCV006468070

NM_001379081.2(FREM1):c.829-1G>C

SNV
Germline

Chr9:14851608

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372962662

rs_1244506651

1 SubmittersRCV002019235

NM_001379081.2(FREM1):c.5854A>T (p.Ile1952Leu)

SNV
Germline

Chr9:14747419

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4989627

rs_201002953

3 SubmittersRCV002032221 RCV004044874

NM_001379081.2(FREM1):c.3694+1G>T

SNV
Germline

Chr9:14801651

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372967532

rs_1187630820

1 SubmittersRCV002024463

NM_001379081.2(FREM1):c.1393+6T>C

SNV
Germline

Chr9:14845954

Conflicting classifications of pathogenicity

Condition: not provided
Sarcoma

Criteria Provided
Conflicting Classifications

CA4991268

rs_145871721

3 SubmittersRCV002014125 RCV005925623

NM_001379081.2(FREM1):c.3094G>A (p.Val1032Met)

SNV
Germline

Chr9:14806841

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA4990681

rs_544959201

3 SubmittersRCV001948413 RCV002560687 RCV005042547

NM_001379081.2(FREM1):c.1520G>A (p.Arg507His)

SNV
Germline

Chr9:14842534

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA4991209

rs_202115210

2 SubmittersRCV002146031

NM_001379081.2(FREM1):c.4312C>T (p.Arg1438Ter)

SNV
Germline

Chr9:14784500

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372966182

rs_1563921179

1 SubmittersRCV002291976

NM_001379081.2(FREM1):c.3619G>C (p.Glu1207Gln)

SNV
Germline

Chr9:14801727

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4990481

rs_61744094

2 SubmittersRCV003085262 RCV003269452

NM_001379081.2(FREM1):c.581G>A (p.Arg194Gln)

SNV
Germline

Chr9:14859233

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4991530

rs_748464182

3 SubmittersRCV003368011 RCV002610780 RCV004753633

NM_001379081.2(FREM1):c.3045C>T (p.Ile1015=)

SNV
Germline

Chr9:14807983

Conflicting classifications of pathogenicity

Condition: not provided
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA4990714

rs_371960930

2 SubmittersRCV002606307 RCV005045325

NM_001379081.2(FREM1):c.6139-2A>G

SNV
Germline

Chr9:14746470

Likely pathogenic

Condition: not provided
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Multiple Submitters
No Conflicts

CA4989521

rs_200778244

4 SubmittersRCV002595823 RCV005045326

NM_001379081.2(FREM1):c.674C>T (p.Pro225Leu)

SNV
Germline

Chr9:14857707

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4991493

rs_185836404

2 SubmittersRCV002607619 RCV004978706

NM_001379081.2(FREM1):c.5801G>A (p.Arg1934His)

SNV
Germline

Chr9:14747724

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA4989642

rs_778288375

3 SubmittersRCV002572072 RCV004973440 RCV005042861

NM_001379081.2(FREM1):c.5335-8C>A

SNV
Germline

Chr9:14756454

Conflicting classifications of pathogenicity

Condition: not provided
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4989786

rs_551754962

3 SubmittersRCV002590885 RCV003903729

NM_001379081.2(FREM1):c.3300C>A (p.Asn1100Lys)

SNV
Germline

Chr9:14805127

Conflicting classifications of pathogenicity

Condition: not provided
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4990604

rs_373880710

3 SubmittersRCV002765369 RCV005044961 RCV005565290

NM_001379081.2(FREM1):c.234+1G>T

SNV
Germline

Chr9:14868743

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372965409

rs_1188199694

1 SubmittersRCV002843661

NM_001379081.2(FREM1):c.5205-1G>C

SNV
Germline

Chr9:14759902

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372960052

rs_1064797351

1 SubmittersRCV002862344

NM_001379081.2(FREM1):c.5603C>T (p.Thr1868Ile)

SNV
Germline

Chr9:14748594

Conflicting classifications of pathogenicity

Inborn genetic diseases
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA4989699

rs_375631654

2 SubmittersRCV002915163 RCV005047344

NM_001379081.2(FREM1):c.4471G>A (p.Glu1491Lys)

SNV
Germline

Chr9:14776175

Conflicting classifications of pathogenicity

Inborn genetic diseases
FREM1-related disorder

Criteria Provided
Conflicting Classifications

CA4990155

rs_190325959

2 SubmittersRCV002759616 RCV003410255

NM_001379081.2(FREM1):c.2T>C (p.Met1Thr)

SNV
Germline

Chr9:14868976

Pathogenic

BNAR syndrome

Criteria Provided
Single Submitter

CA372965896

rs_1464587064

1 SubmittersRCV003389094

NM_001379081.2(FREM1):c.3535C>A (p.Pro1179Thr)

SNV
Germline

Chr9:14801811

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372967861

rs_1381393162

1 SubmittersRCV003441549

NM_001379081.2(FREM1):c.3439G>T (p.Glu1147Ter)

SNV
Germline

Chr9:14804988

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372968079

rs_1818090088

1 SubmittersRCV003553361

NM_001379081.2(FREM1):c.4738C>T (p.Arg1580Trp)

SNV
Germline

Chr9:14775908

Conflicting classifications of pathogenicity

Condition: not provided
FREM1-related disorder
Trigonocephaly 2
BNAR syndrome
Oculotrichoanal syndrome

Criteria Provided
Conflicting Classifications

CA4990080

rs_375476655

3 SubmittersRCV003556700 RCV003966495 RCV005047661

NM_001379081.2(FREM1):c.2078+1G>T

SNV
Germline

Chr9:14824795

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA372956852

rs_2538012142

1 SubmittersRCV003697885

NM_001379081.2(FREM1):c.3840-2A>G

SNV
Germline

Chr9:14792886

Likely pathogenic

Condition: not provided
Trigonocephaly 2
BNAR syndrome
Oculotrichoanal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA372967198

rs_1380643285

2 SubmittersRCV003707145 RCV005047795

NM_001379081.2(FREM1):c.6282C>A (p.Phe2094Leu)

SNV
Germline

Chr9:14740207

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA372952515

rs_1279639790

2 SubmittersRCV003837399 RCV005335940

NM_001379081.2(FREM1):c.5556A>G (p.Gly1852=)

SNV
Germline

Chr9:14750128

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA463875663

rs_2539237550

1 SubmittersRCV003853369

NM_001379081.2(FREM1):c.4644G>A (p.Gln1548=)

SNV
Germline

Chr9:14776002

Conflicting classifications of pathogenicity

FREM1-related disorder
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4990106

rs_373755380

3 SubmittersRCV003943942 RCV005040617 RCV006613166

NM_001379081.2(FREM1):c.2722G>N (p.Val908Xaa)

SNV
Germline

Chr9:14812983

Pathogenic

BNAR syndrome

Criteria Provided
Single Submitter

rs_2537702433

1 SubmittersRCV003983750

NM_001379081.2(FREM1):c.5205-2A>G

SNV
Germline

Chr9:14759903

Conflicting classifications of pathogenicity

Oculotrichoanal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4989845

rs_781342502

2 SubmittersRCV003989434 RCV004588529

NM_001379081.2(FREM1):c.1540G>A (p.Val514Ile)

SNV
Germline

Chr9:14842514

Conflicting classifications of pathogenicity

Inborn genetic diseases
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Conflicting Classifications

CA4991202

rs_778272482

2 SubmittersRCV004394597 RCV005040640

NM_001379081.2(FREM1):c.595C>T (p.Arg199Cys)

SNV
Germline

Chr9:14859219

Conflicting classifications of pathogenicity

Inborn genetic diseases
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004621410 RCV005040728 RCV006264328

NM_001379081.2(FREM1):c.1016C>G (p.Ala339Gly)

SNV
Germline

Chr9:14851420

Conflicting classifications of pathogenicity

FREM1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004753812 RCV005643644

NM_001379081.2(FREM1):c.5205-1G>A

SNV
Germline

Chr9:14759902

Likely pathogenic

FREM1-related disorder
BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

2 SubmittersRCV004752550 RCV005358141

NM_001379081.2(FREM1):c.3289A>T (p.Lys1097Ter)

SNV
Germline

Chr9:14805138

Pathogenic

FREM1-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV004783307

NM_001379081.2(FREM1):c.1261+1G>T

SNV
Germline

Chr9:14848664

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005049079

NM_001379081.2(FREM1):c.508G>T (p.Glu170Ter)

SNV
Germline

Chr9:14859306

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005046390

NM_001379081.2(FREM1):c.6139-2A>C

SNV
Germline

Chr9:14746470

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005046201 RCV006489291

NM_001379081.2(FREM1):c.6122G>A (p.Trp2041Ter)

SNV
Germline

Chr9:14746939

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005046202

NM_001379081.2(FREM1):c.5845-2A>C

SNV
Germline

Chr9:14747430

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005046212

NM_001379081.2(FREM1):c.5761C>T (p.Gln1921Ter)

SNV
Germline

Chr9:14748436

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005046215

NM_001379081.2(FREM1):c.4961G>A (p.Arg1654His)

SNV
Germline

Chr9:14770703

Conflicting classifications of pathogenicity

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005046235 RCV005336056

NM_001379081.2(FREM1):c.4857+1G>A

SNV
Germline

Chr9:14775788

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005046242

NM_001379081.2(FREM1):c.4612C>G (p.Pro1538Ala)

SNV
Germline

Chr9:14776034

Conflicting classifications of pathogenicity

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005046247 RCV005336057

NM_001379081.2(FREM1):c.4027C>T (p.Gln1343Ter)

SNV
Germline

Chr9:14789069

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005046261

NM_001379081.2(FREM1):c.3758T>A (p.Leu1253Ter)

SNV
Germline

Chr9:14797579

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005046275

NM_001379081.2(FREM1):c.3622A>T (p.Asn1208Tyr)

SNV
Germline

Chr9:14801724

Conflicting classifications of pathogenicity

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005046285 RCV005336058

NM_001379081.2(FREM1):c.3274+1G>A

SNV
Germline

Chr9:14806660

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005046302

NM_001379081.2(FREM1):c.2883C>G (p.Tyr961Ter)

SNV
Germline

Chr9:14812822

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005046317

NM_001379081.2(FREM1):c.2361G>A (p.Val787=)

SNV
Germline

Chr9:14819419

Conflicting classifications of pathogenicity

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005046343 RCV006489294

NM_001379081.2(FREM1):c.2212C>T (p.Gln738Ter)

SNV
Germline

Chr9:14823285

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005046349

NM_001379081.2(FREM1):c.2079-1G>T

SNV
Germline

Chr9:14824116

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome
Trigonocephaly 2

Criteria Provided
Single Submitter

1 SubmittersRCV005046354

NM_001379081.2(FREM1):c.2079-8C>G

SNV
Germline

Chr9:14824123

Conflicting classifications of pathogenicity

BNAR syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005055418 RCV005063369

NM_001379081.2(FREM1):c.1153-2A>G

SNV
Germline

Chr9:14848775

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005175229

NM_001379081.2(FREM1):c.741T>G (p.Tyr247Ter)

SNV
Germline

Chr9:14857640

Likely pathogenic

BNAR syndrome
Oculotrichoanal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005233159

NM_001379081.2(FREM1):c.6373G>T (p.Glu2125Ter)

SNV
Germline

Chr9:14737563

Likely pathogenic

BNAR syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005413266

NM_001379081.2(FREM1):c.3493G>T (p.Glu1165Ter)

SNV
Germline

Chr9:14801853

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005636420

NM_001379081.2(FREM1):c.5059+1G>A

SNV
Germline

Chr9:14770604

Likely pathogenic

BNAR syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006258341

NM_001379081.2(FREM1):c.5220G>A (p.Trp1740Ter)

SNV
Germline

Chr9:14759886

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006525289

NM_001379081.2(FREM1):c.1738+1G>C

SNV
Germline

Chr9:14842315

Likely pathogenic

FREM1-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV006646898

NM_001379081.2(FREM1):c.2078+1G>A

SNV
Germline

Chr9:14824795

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006699007