FREM1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154897	GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	AK3, BRD10 +271 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	SNORD137, SPATA6L +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	SMARCA2, SNAPC3 +290 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	LOC130001522, LOC130001523 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	LOC130001455, LOC130001456 +280 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC105375972, LOC105375976 +295 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 57009	GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1	ADAMTSL1, BNC2 +67 more	Copy number loss	See cases	GPathogenic
Select item 57336	GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1	BNC2, BNC2-AS1 +59 more	Copy number loss	See cases	GPathogenic
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 149545	GRCh38/hg38 9p23-22.3(chr9:14182609-14903052)x1	CER1, FREM1 +12 more	Copy number loss	See cases	GUncertain significance
Select item 366048	NM_144966.5(FREM1):c.*2704A>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366049	NM_144966.5(FREM1):c.*2670T>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366050	NM_144966.5(FREM1):c.*2664A>G	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GLikely benign
Select item 366051	NM_144966.5(FREM1):c.2553_2556delGTTT	FREM1	Deletion	Oculotrichoanal syndrome	GUncertain significance
Select item 915240	NM_144966.5(FREM1):c.*2496C>G	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366052	NM_144966.5(FREM1):c.*2461C>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GLikely benign
Select item 366053	NM_144966.5(FREM1):c.*2437A>G	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366054	NM_144966.5(FREM1):c.*2405T>G	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GLikely benign
Select item 366055	NM_144966.5(FREM1):c.*2378G>A	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 366056	NM_144966.5(FREM1):c.*2341A>G	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 366057	NM_144966.5(FREM1):c.*2330C>G	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 366058	NM_144966.5(FREM1):c.*2324T>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GLikely benign
Select item 366059	NM_144966.5(FREM1):c.*2320A>C	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 913649	NM_144966.5(FREM1):c.*2313T>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GLikely benign
Select item 366060	NM_144966.5(FREM1):c.*2296G>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GBenign
Select item 366061	NM_144966.5(FREM1):c.*2254A>G	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 913650	NM_144966.5(FREM1):c.*2230G>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366062	NM_144966.5(FREM1):c.*2229C>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GBenign
Select item 366063	NM_144966.5(FREM1):c.*2207G>A	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 366064	NM_144966.5(FREM1):c.*2125delA	FREM1	Deletion	Oculotrichoanal syndrome	GUncertain significance
Select item 366065	NM_144966.5(FREM1):c.*2069G>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 913651	NM_144966.5(FREM1):c.*2067C>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366066	NM_144966.5(FREM1):c.*1865T>C	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 914053	NM_144966.5(FREM1):c.*1844G>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GLikely benign
Select item 366067	NM_144966.5(FREM1):c.1823_1824delAT	FREM1	Deletion	Oculotrichoanal syndrome	GUncertain significance
Select item 366068	NM_144966.5(FREM1):c.*1788C>G	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366069	NM_144966.5(FREM1):c.*1784A>G	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 366070	NM_144966.5(FREM1):c.*1772C>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 914054	NM_144966.5(FREM1):c.*1737G>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366071	NM_144966.5(FREM1):c.*1700T>C	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 914563	NM_144966.5(FREM1):c.*1663T>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366072	NM_144966.5(FREM1):c.*1558C>G	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366073	NM_144966.5(FREM1):c.*1465G>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GBenign
Select item 914564	NM_144966.5(FREM1):c.*1420T>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366074	NM_144966.5(FREM1):c.*1394A>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366075	NM_144966.5(FREM1):c.*1388dupT	FREM1	Duplication	Oculotrichoanal syndrome	GLikely benign
Select item 366076	NM_144966.5(FREM1):c.*1376G>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GBenign
Select item 366077	NM_144966.5(FREM1):c.*1299A>G	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GBenign
Select item 366078	NM_144966.5(FREM1):c.*1258G>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366079	NM_144966.5(FREM1):c.*1256T>A	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 912594	NM_144966.5(FREM1):c.*1226T>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 912595	NM_144966.5(FREM1):c.*1215G>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366080	NM_144966.5(FREM1):c.*1209C>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366081	NM_144966.5(FREM1):c.*1205T>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366082	NM_144966.5(FREM1):c.*1073G>A	FREM1	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 912596	NM_144966.5(FREM1):c.*1051C>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 912597	NM_144966.5(FREM1):c.*1041A>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366083	NM_144966.5(FREM1):c.*1031G>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366084	NM_144966.5(FREM1):c.*1024C>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366085	NM_144966.5(FREM1):c.*985T>G	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 913695	NM_144966.5(FREM1):c.*978A>G	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 366086	NM_144966.5(FREM1):c.854_855dupAA	FREM1	Duplication	Oculotrichoanal syndrome	GUncertain significance
Select item 366087	NM_144966.5(FREM1):c.*758T>A	FREM1	Single nucleotide variant	not provided +1 more	GBenign
Select item 913696	NM_144966.6(FREM1):c.*737C>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 913697	NM_144966.6(FREM1):c.*652A>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 913698	NM_144966.6(FREM1):c.*616G>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GLikely benign

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