"PreventionGenetics, part of Exact Sciences"[submitter] AND "FREM1"[ge - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2711736	NM_001379081.2(FREM1):c.6474G>A (p.Gly2158=)	FREM1	Single nucleotide variant (synonymous variant +2 more)	FREM1-related disorder +1 more	GBenign/Likely benign
Select item 262545	NM_001379081.2(FREM1):c.6428A>C (p.Gln2143Pro)	FREM1 (Q2143P +1 more)	Single nucleotide variant (missense variant +2 more)	Oculotrichoanal syndrome +2 more	GBenign
Select item 3046710	NM_001379081.2(FREM1):c.6348C>T (p.Asn2116=)	FREM1 (R564*)	Single nucleotide variant (synonymous variant +2 more)	FREM1-related disorder	GLikely benign
Select item 1628159	NM_001379081.2(FREM1):c.6231G>A (p.Ala2077=)	FREM1	Single nucleotide variant (synonymous variant +2 more)	FREM1-related disorder +1 more	GLikely benign
Select item 3036318	NM_001379081.2(FREM1):c.6210G>A (p.Glu2070=)	FREM1	Single nucleotide variant (synonymous variant +2 more)	FREM1-related disorder	GLikely benign
Select item 2712727	NM_001379081.2(FREM1):c.6144G>A (p.Val2048=)	FREM1	Single nucleotide variant (synonymous variant +2 more)	FREM1-related disorder +1 more	GLikely benign
Select item 1049021	NM_001379081.2(FREM1):c.6037T>A (p.Cys2013Ser)	FREM1 (C2013S +2 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3052852	NM_001379081.2(FREM1):c.6009+4T>G	FREM1	Single nucleotide variant (intron variant)	FREM1-related disorder	GLikely benign
Select item 366107	NM_001379081.2(FREM1):c.5956C>T (p.Leu1986=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3048354	NM_001379081.2(FREM1):c.5909A>G (p.Lys1970Arg)	FREM1 (K1970R +2 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GLikely benign
Select item 262544	NM_001379081.2(FREM1):c.5859T>C (p.Val1953=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 3030336	NM_001379081.2(FREM1):c.5496T>C (p.Pro1832=)	FREM1	Single nucleotide variant (synonymous variant +2 more)	FREM1-related disorder	GLikely benign
Select item 366111	NM_001379081.2(FREM1):c.5466T>C (p.Asp1822=)	FREM1	Single nucleotide variant (synonymous variant +2 more)	Oculotrichoanal syndrome +2 more	GBenign
Select item 2630326	NM_001379081.2(FREM1):c.5446G>T (p.Asp1816Tyr)	FREM1 (D1816Y +1 more)	Single nucleotide variant (missense variant +2 more)	FREM1-related disorder	GUncertain significance
Select item 1917047	NM_001379081.2(FREM1):c.5335-8C>A	FREM1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 726455	NM_001379081.2(FREM1):c.5316G>T (p.Ser1772=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 2637413	NM_001379081.2(FREM1):c.5236T>C (p.Ser1746Pro)	FREM1 (S1746P +1 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 2636405	NM_001379081.2(FREM1):c.5205-1_5209delinsTTT	FREM1	Indel (splice acceptor variant)	FREM1-related disorder	GLikely pathogenic
Select item 712969	NM_001379081.2(FREM1):c.5205-4A>G	FREM1	Single nucleotide variant (intron variant)	FREM1-related disorder +1 more	GLikely benign
Select item 262543	NM_001379081.2(FREM1):c.5004C>A (p.Ile1668=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 787067	NM_001379081.2(FREM1):c.4963G>A (p.Val1655Met)	FREM1 (V191M +1 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder +1 more	GBenign/Likely benign
Select item 912682	NM_001379081.2(FREM1):c.4879G>T (p.Ala1627Ser)	FREM1 (A163S +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 366116	NM_001379081.2(FREM1):c.4859T>C (p.Val1620Ala)	FREM1 (V1620A +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign/Likely benign
Select item 764758	NM_001379081.2(FREM1):c.4801C>A (p.Gln1601Lys)	FREM1 (Q1601K +1 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 262542	NM_001379081.2(FREM1):c.4791T>C (p.Asp1597=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 262541	NM_001379081.2(FREM1):c.4785C>T (p.Ala1595=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign
Select item 2721999	NM_001379081.2(FREM1):c.4738C>T (p.Arg1580Trp)	FREM1 (R116W +1 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder +1 more	GLikely benign
Select item 262540	NM_001379081.2(FREM1):c.4727A>T (p.Asn1576Ile)	FREM1 (N1576I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 3046386	NM_001379081.2(FREM1):c.4644G>A (p.Gln1548=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 914186	NM_001379081.2(FREM1):c.4626C>T (p.Leu1542=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 262539	NM_001379081.2(FREM1):c.4617G>A (p.Ala1539=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 709857	NM_001379081.2(FREM1):c.4564G>A (p.Val1522Met)	FREM1 (V58M +1 more)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder +1 more	GLikely benign
Select item 737325	NM_001379081.2(FREM1):c.4563C>A (p.Ala1521=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	BNAR syndrome +4 more	GBenign/Likely benign
Select item 2407878	NM_001379081.2(FREM1):c.4471G>A (p.Glu1491Lys)	FREM1 (E1491K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3030795	NM_001379081.2(FREM1):c.4443-50A>G	FREM1 (M1V)	Single nucleotide variant (missense variant +3 more)	FREM1-related disorder	GLikely benign
Select item 728872	NM_001379081.2(FREM1):c.4442+3G>A	FREM1	Single nucleotide variant (intron variant)	FREM1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2632121	NM_001379081.2(FREM1):c.4343C>G (p.Pro1448Arg)	FREM1 (P1448R)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3054484	NM_001379081.2(FREM1):c.4326C>A (p.Ile1442=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 2630771	NM_001379081.2(FREM1):c.4152A>C (p.Gln1384His)	FREM1 (Q1384H)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 1903870	NM_001379081.2(FREM1):c.4128C>T (p.Asn1376=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder +1 more	GLikely benign
Select item 2908233	NM_001379081.2(FREM1):c.4068C>T (p.Thr1356=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder +1 more	GLikely benign
Select item 2058004	NM_001379081.2(FREM1):c.3926AGA[1] (p.Lys1310del)	FREM1 (K1310del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 708381	NM_001379081.2(FREM1):c.3874C>T (p.Arg1292Cys)	FREM1 (R1292C)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 366131	NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +4 more	GConflicting classifications of pathogenicity
Select item 262538	NM_001379081.2(FREM1):c.3657A>G (p.Ala1219=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2630999	NM_001379081.2(FREM1):c.3653A>G (p.His1218Arg)	FREM1 (H1218R)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 262537	NM_001379081.2(FREM1):c.3634G>T (p.Ala1212Ser)	FREM1 (A1212S)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign
Select item 195628	NM_001379081.2(FREM1):c.3485A>G (p.Gln1162Arg)	FREM1 (Q1162R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 286424	NM_001379081.2(FREM1):c.3471+9C>T	FREM1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 366135	NM_001379081.2(FREM1):c.3359A>T (p.Gln1120Leu)	FREM1 (Q1120L)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 721079	NM_001379081.2(FREM1):c.3331C>T (p.His1111Tyr)	FREM1 (H1111Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2889908	NM_001379081.2(FREM1):c.3330G>A (p.Arg1110=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder +1 more	GBenign/Likely benign
Select item 3029936	NM_001379081.2(FREM1):c.3167C>A (p.Ala1056Glu)	FREM1 (A1056E)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 914725	NM_001379081.2(FREM1):c.3146C>G (p.Ser1049Cys)	FREM1 (S1049C)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2894736	NM_001379081.2(FREM1):c.3093C>T (p.Pro1031=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder +1 more	GLikely benign
Select item 262536	NM_001379081.2(FREM1):c.3089-4G>T	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +2 more	GBenign
Select item 3058953	NM_001379081.2(FREM1):c.3018G>A (p.Ala1006=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
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 2078677	NM_001379081.2(FREM1):c.2563A>G (p.Thr855Ala)	FREM1 (T855A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 262535	NM_001379081.2(FREM1):c.2408C>A (p.Ser803Tyr)	FREM1 (S803Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 3058183	NM_001379081.2(FREM1):c.2338-5T>G	FREM1	Single nucleotide variant (intron variant)	FREM1-related disorder	GLikely benign
Select item 2631937	NM_001379081.2(FREM1):c.2301C>G (p.Asn767Lys)	FREM1 (N767K)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 2716037	NM_001379081.2(FREM1):c.2127A>G (p.Val709=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2200726	NM_001379081.2(FREM1):c.2079-4T>G	FREM1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2637412	NM_001379081.2(FREM1):c.1711A>G (p.Met571Val)	FREM1 (M571V)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GUncertain significance
Select item 3035197	NM_001379081.2(FREM1):c.1668C>T (p.Tyr556=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 793480	NM_001379081.2(FREM1):c.1492C>T (p.Arg498Trp)	FREM1 (R498W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 218939	NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala)	FREM1 (G465A)	Single nucleotide variant (missense variant +1 more)	Congenital diaphragmatic hernia +3 more	GConflicting classifications of pathogenicity
Select item 262534	NM_001379081.2(FREM1):c.1315G>C (p.Val439Leu)	FREM1 (V439L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 3041986	NM_001379081.2(FREM1):c.1289G>A (p.Arg430Gln)	FREM1 (R430Q)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder	GLikely benign
Select item 786132	NM_001379081.2(FREM1):c.1184A>C (p.Glu395Ala)	FREM1 (E395A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 366163	NM_001379081.2(FREM1):c.1047G>A (p.Leu349=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 3050391	NM_001379081.2(FREM1):c.903C>T (p.Ala301=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 262546	NM_001379081.2(FREM1):c.829-12A>G	FREM1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 741407	NM_001379081.2(FREM1):c.795C>A (p.Asp265Glu)	FREM1 (D274E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1925069	NM_001379081.2(FREM1):c.693A>G (p.Gly231=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 736327	NM_001379081.2(FREM1):c.546G>T (p.Leu182=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 197871	NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp)	FREM1 (R181W)	Single nucleotide variant (missense variant +1 more)	FREM1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3035126	NM_001379081.2(FREM1):c.459G>A (p.Ala153=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign
Select item 2080859	NM_001379081.2(FREM1):c.459G>T (p.Ala153=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 913240	NM_001379081.2(FREM1):c.329+7G>A	FREM1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3058103	NM_001379081.2(FREM1):c.329+6C>T	FREM1	Single nucleotide variant (intron variant)	FREM1-related disorder	GLikely benign
Select item 3056663	NM_001379081.2(FREM1):c.42G>C (p.Leu14=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	FREM1-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 83