"FREM2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1992557	NM_207361.6(FREM2):c.87GCT[8] (p.Leu38_Ser39insLeu)	FREM2	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3037638	NM_207361.6(FREM2):c.87G>C (p.Arg29=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 703191	NM_207361.6(FREM2):c.109C>T (p.Leu37Phe)	FREM2 (L37F)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 704854	NM_207361.6(FREM2):c.111C>T (p.Leu37=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 702640	NM_207361.6(FREM2):c.176G>A (p.Gly59Asp)	FREM2 (G59D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 193527	NM_207361.6(FREM2):c.177T>C (p.Gly59=)	FREM2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2058293	NM_207361.6(FREM2):c.305G>C (p.Gly102Ala)	FREM2 (G102A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882275	NM_207361.6(FREM2):c.383C>T (p.Pro128Leu)	FREM2 (P128L)	Single nucleotide variant (missense variant)	FREM2-related disorder +2 more	GUncertain significance
Select item 1596881	NM_207361.6(FREM2):c.567C>T (p.Val189=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +3 more	GLikely benign
Select item 703000	NM_207361.6(FREM2):c.595G>T (p.Ala199Ser)	FREM2 (A199S)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GLikely benign
Select item 2905814	NM_207361.6(FREM2):c.1122T>A (p.Asp374Glu)	FREM2 (D374E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 311944	NM_207361.6(FREM2):c.1191C>T (p.Pro397=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 193530	NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu)	FREM2 (S527L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2886601	NM_207361.6(FREM2):c.1824G>T (p.Gly608=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2765706	NM_207361.6(FREM2):c.1854C>G (p.Pro618=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2959468	NM_207361.6(FREM2):c.1959G>T (p.Leu653=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3061640	NM_207361.6(FREM2):c.2097C>G (p.Leu699=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 193532	NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)	FREM2 (R710C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 287581	NM_207361.6(FREM2):c.2133G>A (p.Met711Ile)	FREM2 (M711I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2630027	NM_207361.6(FREM2):c.2149C>T (p.Gln717Ter)	FREM2 (Q717*)	Single nucleotide variant (nonsense)	FREM2-related disorder	GLikely pathogenic
Select item 2628788	NM_207361.6(FREM2):c.2250C>A (p.Asp750Glu)	FREM2 (D750E)	Single nucleotide variant (missense variant)	FREM2-related disorder	GUncertain significance
Select item 193528	NM_207361.6(FREM2):c.2367G>A (p.Pro789=)	FREM2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 311958	NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu)	FREM2 (G811E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 698134	NM_207361.6(FREM2):c.2480A>C (p.Asn827Thr)	FREM2 (N827T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 705796	NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile)	FREM2 (T867I)	Single nucleotide variant (missense variant)	FREM2-related disorder +3 more	GBenign/Likely benign
Select item 631701	NM_207361.6(FREM2):c.2608C>T (p.Gln870Ter)	FREM2 (Q870*)	Single nucleotide variant (nonsense)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2997786	NM_207361.6(FREM2):c.2625C>T (p.Gly875=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +1 more	GLikely benign
Select item 193524	NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly)	FREM2 (C914G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193529	NM_207361.6(FREM2):c.2823C>T (p.Pro941=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2635246	NM_207361.6(FREM2):c.2977dup (p.Glu993fs)	FREM2 (E993fs)	Duplication (frameshift variant)	FREM2-related disorder	GLikely pathogenic
Select item 1468169	NM_207361.6(FREM2):c.2987T>A (p.Val996Asp)	FREM2 (V996D)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +4 more	GUncertain significance
Select item 596336	NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup)	FREM2	Duplication (inframe_insertion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 881023	NM_207361.6(FREM2):c.3143A>G (p.Asn1048Ser)	FREM2 (N1048S)	Single nucleotide variant (missense variant)	FREM2-related disorder +2 more	GUncertain significance
Select item 2187987	NM_207361.6(FREM2):c.3266A>T (p.His1089Leu)	FREM2 (H1089L)	Single nucleotide variant (missense variant)	FREM2-related disorder +1 more	GLikely benign
Select item 2865617	NM_207361.6(FREM2):c.3297dup (p.Asp1100Ter)	FREM2 (D1100*)	Duplication (nonsense)	FREM2-related disorder +1 more	GPathogenic
Select item 311967	NM_207361.6(FREM2):c.3753C>T (p.Ser1251=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +3 more	GBenign/Likely benign
Select item 2959398	NM_207361.6(FREM2):c.3909G>A (p.Thr1303=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 311971	NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)	FREM2 (R1344H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 311972	NM_207361.6(FREM2):c.4038G>A (p.Gly1346=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3057517	NM_207361.6(FREM2):c.4074T>C (p.Thr1358=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 1687466	NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr)	FREM2 (H1384Y)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +3 more	GUncertain significance
Select item 311977	NM_207361.6(FREM2):c.4319C>A (p.Thr1440Lys)	FREM2 (T1440K)	Single nucleotide variant (missense variant)	FREM2-related disorder +2 more	GBenign/Likely benign
Select item 3053539	NM_207361.6(FREM2):c.4329A>G (p.Leu1443=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 2441576	NM_207361.6(FREM2):c.4378A>G (p.Ile1460Val)	FREM2 (I1460V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2632347	NM_207361.6(FREM2):c.4442C>T (p.Ser1481Phe)	FREM2 (S1481F)	Single nucleotide variant (missense variant)	FREM2-related disorder	GUncertain significance
Select item 3029006	NM_207361.6(FREM2):c.4575C>T (p.Ser1525=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 2169398	NM_207361.6(FREM2):c.4584T>C (p.Asp1528=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2775980	NM_207361.6(FREM2):c.4629C>T (p.Val1543=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +1 more	GLikely benign
Select item 747290	NM_207361.6(FREM2):c.4674C>T (p.Val1558=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 762305	NM_207361.6(FREM2):c.4702C>T (p.Leu1568=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 311980	NM_207361.6(FREM2):c.4726C>G (p.Pro1576Ala)	FREM2 (P1576A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 311981	NM_207361.6(FREM2):c.4730T>C (p.Ile1577Thr)	FREM2 (I1577T)	Single nucleotide variant (missense variant)	FREM2-related disorder +2 more	GBenign
Select item 311984	NM_207361.6(FREM2):c.4901C>T (p.Thr1634Met)	FREM2 (T1634M)	Single nucleotide variant (missense variant)	FREM2-related disorder +2 more	GBenign
Select item 2969576	NM_207361.6(FREM2):c.5208A>G (p.Leu1736=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +1 more	GLikely benign
Select item 882691	NM_207361.6(FREM2):c.5263+10C>T	FREM2	Single nucleotide variant (intron variant)	FREM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 706499	NM_207361.6(FREM2):c.5279C>T (p.Thr1760Met)	FREM2 (T1760M)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 311991	NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp)	FREM2 (G1806D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3032233	NM_207361.6(FREM2):c.5460C>G (p.Gly1820=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3032683	NM_207361.6(FREM2):c.5538G>A (p.Glu1846=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 2891099	NM_207361.6(FREM2):c.5676C>T (p.Ser1892=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3032200	NM_207361.6(FREM2):c.5714G>A (p.Arg1905Lys)	FREM2 (R1905K)	Single nucleotide variant (missense variant)	FREM2-related disorder	GUncertain significance
Select item 3032182	NM_207361.6(FREM2):c.5767+5C>G	FREM2	Single nucleotide variant (intron variant)	FREM2-related disorder	GLikely benign
Select item 1544444	NM_207361.6(FREM2):c.5767+8G>A	FREM2	Single nucleotide variant (intron variant)	FREM2-related disorder +1 more	GLikely benign
Select item 3029998	NM_207361.6(FREM2):c.5768-7C>T	FREM2	Single nucleotide variant (intron variant)	FREM2-related disorder	GLikely benign
Select item 3037332	NM_207361.6(FREM2):c.5790G>C (p.Pro1930=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 735027	NM_207361.6(FREM2):c.5790G>A (p.Pro1930=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3033013	NM_207361.6(FREM2):c.5991A>G (p.Gln1997=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 312001	NM_207361.6(FREM2):c.6036C>T (p.Phe2012=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +3 more	GBenign/Likely benign
Select item 2808582	NM_207361.6(FREM2):c.6078G>A (p.Val2026=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +1 more	GLikely benign
Select item 1646257	NM_207361.6(FREM2):c.6108C>T (p.Asp2036=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +1 more	GLikely benign
Select item 1907892	NM_207361.6(FREM2):c.6273G>T (p.Ala2091=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 312004	NM_207361.6(FREM2):c.6273G>A (p.Ala2091=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 498249	NM_207361.6(FREM2):c.6333C>T (p.Gly2111=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2636478	NM_207361.6(FREM2):c.6379+5G>A	FREM2	Single nucleotide variant (intron variant)	FREM2-related disorder	GUncertain significance
Select item 702035	NM_207361.6(FREM2):c.6396C>T (p.Phe2132=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +2 more	GBenign
Select item 2636236	NM_207361.6(FREM2):c.6506G>A (p.Gly2169Glu)	FREM2 (G2169E)	Single nucleotide variant (missense variant)	FREM2-related disorder	GUncertain significance
Select item 312011	NM_207361.6(FREM2):c.6669A>G (p.Gln2223=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 283189	NM_207361.6(FREM2):c.6743-9C>T	FREM2	Single nucleotide variant (intron variant)	FREM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 502616	NM_207361.6(FREM2):c.6807G>A (p.Ser2269=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2628494	NM_207361.6(FREM2):c.6925+1G>T	FREM2	Single nucleotide variant (splice donor variant)	FREM2-related disorder	GLikely pathogenic
Select item 881617	NM_207361.6(FREM2):c.7301G>T (p.Arg2434Leu)	FREM2 (R2434L)	Single nucleotide variant (missense variant)	FREM2-related disorder +1 more	GUncertain significance
Select item 881618	NM_207361.6(FREM2):c.7332C>T (p.Asp2444=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 312016	NM_207361.6(FREM2):c.7335T>C (p.Gly2445=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +4 more	GBenign/Likely benign
Select item 2756054	NM_207361.6(FREM2):c.7365C>T (p.Phe2455=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 882779	NM_207361.6(FREM2):c.7429C>T (p.Arg2477Trp)	FREM2 (R2477W)	Single nucleotide variant (missense variant)	FREM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2860997	NM_207361.6(FREM2):c.7440C>T (p.Cys2480=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3060349	NM_207361.6(FREM2):c.7520-3A>C	FREM2	Single nucleotide variant (intron variant)	FREM2-related disorder	GLikely benign
Select item 3029897	NM_207361.6(FREM2):c.7548T>G (p.Val2516=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 312019	NM_207361.6(FREM2):c.7663G>T (p.Val2555Leu)	FREM2 (V2555L)	Single nucleotide variant (missense variant)	FREM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 703590	NM_207361.6(FREM2):c.7966A>T (p.Ile2656Phe)	FREM2 (I2656F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2071840	NM_207361.6(FREM2):c.8055C>T (p.Pro2685=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 312024	NM_207361.6(FREM2):c.8160A>C (p.Pro2720=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3011571	NM_207361.6(FREM2):c.8166T>C (p.Ala2722=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +1 more	GLikely benign
Select item 312025	NM_207361.6(FREM2):c.8196C>T (p.Ser2732=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 312027	NM_207361.6(FREM2):c.8226C>T (p.Ala2742=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +2 more	GBenign
Select item 3046884	NM_207361.6(FREM2):c.8280C>T (p.Pro2760=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 2633034	NM_207361.6(FREM2):c.8344_8345delinsA (p.Leu2782fs)	FREM2 (L2782fs)	Indel (frameshift variant)	FREM2-related disorder	GLikely pathogenic
Select item 312031	NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser)	FREM2 (P2837S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 312032	NM_207361.6(FREM2):c.8671+14A>G	FREM2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195789	NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)	FREM2 (V2968I)	Single nucleotide variant (missense variant)	FREM2-related disorder +5 more	GBenign/Likely benign

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