Related gene-specific medical variations for Gene (Select 158326) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245399	NC_000009.11:g.(?_14848643)_(14868975_?)del	FREM1	Deletion	not provided	GPathogenic
Select item 3233398	NM_001379081.2(FREM1):c.3165dup (p.Ala1056fs)	FREM1 (A1056fs)	Duplication (frameshift variant +1 more)	Oculotrichoanal syndrome	GLikely pathogenic
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 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 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 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 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 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 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 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 2689091	NM_001379081.2(FREM1):c.1654G>A (p.Ala552Thr)	FREM1 (A552T)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2441574	NM_001379081.2(FREM1):c.4443-3C>G	FREM1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2441573	NM_001379081.2(FREM1):c.737G>A (p.Arg246His)	FREM1 (R246H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 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 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 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 2189090	NM_001379081.2(FREM1):c.2893+3A>C	FREM1, LOC126860582	Single nucleotide variant (intron variant)	not provided	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 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 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 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 1590459	NM_001379081.2(FREM1):c.2893+8G>A	FREM1, LOC126860582	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1324431	NM_001379081.2(FREM1):c.4992_4993insA (p.Asp1665fs)	FREM1 (D1665fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1322939	NM_001379081.2(FREM1):c.4375dup (p.Asp1459fs)	FREM1 (D1459fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1322938	NM_001379081.2(FREM1):c.4178-1G>A	FREM1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 1295001	NM_001379081.2(FREM1):c.2641-122G>A	FREM1, LOC126860582	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 992743	NM_001379081.2(FREM1):c.1232C>A (p.Thr411Lys)	FREM1 (T411K +1 more)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly	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 912776	NM_001379081.2(FREM1):c.2788A>G (p.Ile930Val)	FREM1, LOC126860582 (I930V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 813543	NM_001379081.2(FREM1):c.4741C>T (p.His1581Tyr)	FREM1 (H1581Y +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 686211	GRCh37/hg19 9p22.3(chr9:14757743-14830372)x1	FREM1	Copy number loss	not provided	GPathogenic
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 591834	NM_001379081.2(FREM1):c.4468_4469insG (p.Thr1490fs)	FREM1 (T26fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 591481	NM_001379081.2(FREM1):c.939del (p.Ser314fs)	FREM1 (S323fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 591008	NM_001379081.2(FREM1):c.4651del (p.Gln1551fs)	FREM1 (Q1551fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 563593	GRCh37/hg19 9p22.3(chr9:14724200-14860436)x1	FREM1	Copy number loss	not provided	GUncertain significance
Select item 563565	GRCh37/hg19 9p22.3(chr9:14800838-14860305)x1	FREM1	Copy number loss	not provided	GUncertain significance
Select item 548544	NM_001379081.2(FREM1):c.5249A>G (p.Tyr1750Cys)	FREM1 (Y1750C +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GUncertain significance
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 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 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 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 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 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 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 1988	NM_001379081.2(FREM1):c.2722del (p.Val908fs)	FREM1, LOC126860582 (V908fs)	Deletion (frameshift variant +1 more)	BNAR syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 56