LOC126860582[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	ACER2, ACO1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	ACER2, ADAMTSL1 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 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	LOC130001672, LOC130001673 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	DMAC1, DMRT1 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	LOC126860601, LOC126860602 +581 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	ADAMTSL1, AK3 +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LINC03041, LINC03106 +898 more	Copy number gain	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	AK3, BNC2 +290 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	ADAMTSL1, AK3 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +538 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC124210616, LOC124225047 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860576, LOC126860577 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001469, LOC130001470 +898 more	Copy number gain	See cases	GPathogenic
Select item 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	LOC126860553, LOC126860554 +280 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC130001466, LOC130001467 +295 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 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	ACER2, ADAMTSL1 +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	ACER2, ADAMTSL1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	ACER2, ADAMTSL1 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ERVFRD-3, FAM219A +585 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 30762	NG_017005.2:g.64585_124811del	FREM1, LOC126860582	Deletion	Oculotrichoanal syndrome	GPathogenic
Select item 1590459	NM_001379081.2(FREM1):c.2893+8G>A	FREM1, LOC126860582	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2189090	NM_001379081.2(FREM1):c.2893+3A>C	FREM1, LOC126860582	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 631547	NM_001379081.2(FREM1):c.2891_2892del (p.Thr964fs)	FREM1, LOC126860582 (T964fs)	Microsatellite (frameshift variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 2441572	NM_001379081.2(FREM1):c.2875G>A (p.Val959Met)	FREM1, LOC126860582 (V959M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1048999	NM_001379081.2(FREM1):c.2872G>T (p.Ala958Ser)	FREM1, LOC126860582 (A958S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2332768	NM_001379081.2(FREM1):c.2854A>G (p.Arg952Gly)	FREM1, LOC126860582 (R952G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 912775	NM_001379081.2(FREM1):c.2839G>T (p.Asp947Tyr)	FREM1, LOC126860582 (D947Y)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +1 more	GUncertain significance
Select item 366137	NM_001379081.2(FREM1):c.2818A>G (p.Arg940Gly)	FREM1, LOC126860582 (R940G)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +1 more	GUncertain significance
Select item 1571842	NM_001379081.2(FREM1):c.2811G>A (p.Gly937=)	FREM1, LOC126860582	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GLikely benign
Select item 2726514	NM_001379081.2(FREM1):c.2807A>G (p.His936Arg)	FREM1, LOC126860582 (H936R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 366138	NM_001379081.2(FREM1):c.2796C>T (p.Arg932=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign/Likely benign
Select item 366139	NM_001379081.2(FREM1):c.2795G>A (p.Arg932His)	FREM1, LOC126860582 (R932H)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 2324525	NM_001379081.2(FREM1):c.2794C>T (p.Arg932Cys)	FREM1, LOC126860582 (R932C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3026792	NM_001379081.2(FREM1):c.2792C>T (p.Ala931Val)	FREM1, LOC126860582 (A931V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 912776	NM_001379081.2(FREM1):c.2788A>G (p.Ile930Val)	FREM1, LOC126860582 (I930V)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GUncertain significance
Select item 366140	NM_001379081.2(FREM1):c.2785G>T (p.Val929Leu)	FREM1, LOC126860582 (V929L)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 2284532	NM_001379081.2(FREM1):c.2764G>C (p.Asp922His)	FREM1, LOC126860582 (D922H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2150693	NM_001379081.2(FREM1):c.2764G>A (p.Asp922Asn)	FREM1, LOC126860582 (D922N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2415768	NM_001379081.2(FREM1):c.2757G>C (p.Val919=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 366141	NM_001379081.2(FREM1):c.2727C>T (p.Ile909=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2394078	NM_001379081.2(FREM1):c.2723T>C (p.Val908Ala)	FREM1, LOC126860582 (V908A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3061742	NM_001379081.2(FREM1):c.2722G>N (p.Val908Xaa)	FREM1, LOC126860582 (V908*)	Single nucleotide variant (missense variant +1 more)	BNAR syndrome	GPathogenic
Select item 1988	NM_001379081.2(FREM1):c.2722del (p.Val908fs)	FREM1, LOC126860582 (V908fs)	Deletion (frameshift variant +1 more)	BNAR syndrome	GPathogenic
Select item 2136411	NM_001379081.2(FREM1):c.2718G>A (p.Glu906=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999823	NM_001379081.2(FREM1):c.2712A>C (p.Gly904=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2820320	NM_001379081.2(FREM1):c.2709G>A (p.Glu903=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3096752	NM_001379081.2(FREM1):c.2705C>T (p.Ser902Leu)	FREM1, LOC126860582 (S902L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1969639	NM_001379081.2(FREM1):c.2702G>T (p.Cys901Phe)	FREM1, LOC126860582 (C901F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2831708	NM_001379081.2(FREM1):c.2675A>C (p.Lys892Thr)	FREM1, LOC126860582 (K892T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 218842	NM_001379081.2(FREM1):c.2663C>T (p.Pro888Leu)	FREM1, LOC126860582 (P888L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2103099	NM_001379081.2(FREM1):c.2656G>A (p.Asp886Asn)	FREM1, LOC126860582 (D886N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3096751	NM_001379081.2(FREM1):c.2654A>G (p.Asn885Ser)	FREM1, LOC126860582 (N885S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591618	NM_001379081.2(FREM1):c.2650G>A (p.Val884Ile)	FREM1, LOC126860582 (V884I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611625	NM_001379081.2(FREM1):c.2648C>T (p.Pro883Leu)	FREM1, LOC126860582 (P883L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 913132	NM_001379081.2(FREM1):c.2648C>G (p.Pro883Arg)	FREM1, LOC126860582 (P883R)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 1311510	NM_001379081.2(FREM1):c.2647C>T (p.Pro883Ser)	FREM1, LOC126860582 (P883S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1066336	NM_001379081.2(FREM1):c.2641-1G>T	FREM1, LOC126860582	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 366142	NM_001379081.2(FREM1):c.2641-10C>T	FREM1, LOC126860582	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1295001	NM_001379081.2(FREM1):c.2641-122G>A	FREM1, LOC126860582	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 84