ClinVar for MedGen (Select 1624349) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382229	NM_207361.6(FREM2):c.3737del (p.Thr1246fs)	FREM2 (T1246fs)	Deletion (frameshift variant)	Isolated cryptophthalmia +1 more	GLikely pathogenic
Select item 2865617	NM_207361.6(FREM2):c.3297dup (p.Asp1100Ter)	FREM2 (D1100*)	Duplication (nonsense)	not provided +1 more	GPathogenic
Select item 2664926	NM_207361.6(FREM2):c.8376del (p.Val2793fs)	FREM2 (V2793fs)	Deletion (frameshift variant)	Fraser syndrome 2	GLikely pathogenic
Select item 2627970	NM_207361.6(FREM2):c.5477T>C (p.Val1826Ala)	FREM2 (V1826A)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 2627892	NM_207361.6(FREM2):c.7546dup (p.Val2516fs)	FREM2 (V2516fs)	Duplication (frameshift variant)	Fraser syndrome 2	GLikely pathogenic
Select item 2585472	NM_207361.6(FREM2):c.2449A>G (p.Thr817Ala)	FREM2 (T817A)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 2583092	NM_207361.6(FREM2):c.2689C>T (p.Gln897Ter)	FREM2 (Q897*)	Single nucleotide variant (nonsense)	Fraser syndrome 2	GPathogenic
Select item 2413596	NM_207361.6(FREM2):c.437C>G (p.Pro146Arg)	FREM2 (P146R)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +3 more	GConflicting classifications of pathogenicity
Select item 2356643	NM_207361.6(FREM2):c.2129G>A (p.Arg710His)	FREM2 (R710H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2186514	NM_207361.6(FREM2):c.2216G>A (p.Arg739His)	FREM2 (R739H)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GConflicting classifications of pathogenicity
Select item 2081662	NM_207361.6(FREM2):c.6614A>G (p.Asp2205Gly)	FREM2 (D2205G)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GConflicting classifications of pathogenicity
Select item 1723213	NM_207361.6(FREM2):c.6680_6681dup (p.Phe2228fs)	FREM2 (F2228fs)	Duplication (frameshift variant)	Fraser syndrome 2	GLikely pathogenic
Select item 1687536	NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter)	FREM2 (Q1051*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1687466	NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr)	FREM2 (H1384Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1628444	NM_207361.6(FREM2):c.219G>A (p.Val73=)	FREM2	Single nucleotide variant (synonymous variant)	Isolated cryptophthalmia +2 more	GLikely benign
Select item 1600809	NM_207361.6(FREM2):c.5264-19T>G	FREM2	Single nucleotide variant (intron variant)	Isolated cryptophthalmia +2 more	GBenign/Likely benign
Select item 1596881	NM_207361.6(FREM2):c.567C>T (p.Val189=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1539234	NM_207361.6(FREM2):c.7520-16_7520-15insGT	FREM2	Insertion (intron variant)	Isolated cryptophthalmia +2 more	GBenign/Likely benign
Select item 1524852	NM_207361.6(FREM2):c.6201T>A (p.Asn2067Lys)	FREM2 (N2067K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1517545	NM_207361.6(FREM2):c.8227G>A (p.Val2743Met)	FREM2 (V2743M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1511048	NM_207361.6(FREM2):c.2075G>A (p.Arg692His)	FREM2 (R692H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1510546	NM_207361.6(FREM2):c.2093G>A (p.Arg698His)	FREM2 (R698H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1497890	NM_207361.6(FREM2):c.7103A>T (p.Asp2368Val)	FREM2 (D2368V)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 1487832	NM_207361.6(FREM2):c.4886A>G (p.Tyr1629Cys)	FREM2 (Y1629C)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +3 more	GUncertain significance
Select item 1486198	NM_207361.6(FREM2):c.4439C>T (p.Thr1480Met)	FREM2 (T1480M)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 1472244	NM_207361.6(FREM2):c.2473G>A (p.Val825Met)	FREM2 (V825M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1469616	NM_207361.6(FREM2):c.3967A>C (p.Asn1323His)	FREM2 (N1323H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1468169	NM_207361.6(FREM2):c.2987T>A (p.Val996Asp)	FREM2 (V996D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1465804	NM_207361.6(FREM2):c.6852G>T (p.Lys2284Asn)	FREM2 (K2284N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1425953	NM_207361.6(FREM2):c.2538C>A (p.Ile846=)	FREM2	Single nucleotide variant (synonymous variant)	Isolated cryptophthalmia +2 more	GLikely benign
Select item 1418786	NM_207361.6(FREM2):c.826A>G (p.Asn276Asp)	FREM2 (N276D)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 1404843	NM_207361.6(FREM2):c.9463C>T (p.Pro3155Ser)	FREM2 (P3155S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1399032	NM_207361.6(FREM2):c.1394C>T (p.Pro465Leu)	FREM2 (P465L)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 1393442	NM_207361.6(FREM2):c.1192C>G (p.Pro398Ala)	FREM2 (P398A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1390748	NM_207361.6(FREM2):c.3712A>G (p.Ile1238Val)	FREM2 (I1238V)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 1363760	NM_207361.6(FREM2):c.1284G>A (p.Met428Ile)	FREM2 (M428I)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 1347477	NM_207361.6(FREM2):c.7366G>A (p.Asp2456Asn)	FREM2 (D2456N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1345742	NM_207361.6(FREM2):c.8342G>A (p.Arg2781His)	FREM2 (R2781H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1344656	NM_207361.6(FREM2):c.2533C>T (p.His845Tyr)	FREM2 (H845Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1344655	NM_207361.6(FREM2):c.3661C>T (p.Pro1221Ser)	FREM2 (P1221S)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GLikely pathogenic
Select item 1339125	NM_207361.6(FREM2):c.6109C>A (p.Leu2037Met)	FREM2 (L2037M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1313004	NM_207361.6(FREM2):c.881G>A (p.Gly294Asp)	FREM2 (G294D)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 1311791	NM_207361.6(FREM2):c.3830T>G (p.Phe1277Cys)	FREM2 (F1277C)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 1276321	NM_207361.6(FREM2):c.5410+25T>C	FREM2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1252033	NM_207361.6(FREM2):c.2303C>G (p.Ser768Ter)	FREM2 (S768*)	Single nucleotide variant (nonsense)	Fraser syndrome 2	GLikely pathogenic
Select item 1192243	NM_207361.6(FREM2):c.4569T>C (p.Arg1523=)	FREM2	Single nucleotide variant (synonymous variant)	Isolated cryptophthalmia +3 more	GLikely benign
Select item 1179176	NM_207361.6(FREM2):c.8176+2dup	FREM2	Duplication (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1033702	NM_207361.6(FREM2):c.6101G>T (p.Gly2034Val)	FREM2 (G2034V)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 983513	NM_207361.6(FREM2):c.750_751dup (p.Thr251fs)	FREM2 (T251fs)	Microsatellite (frameshift variant)	Fraser syndrome 2	GPathogenic
Select item 983512	NM_207361.6(FREM2):c.5162dup (p.Phe1722fs)	FREM2 (F1722fs)	Duplication (frameshift variant)	Fraser syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 916649	NM_207361.6(FREM2):c.399del (p.Gly134fs)	FREM2 (G134fs)	Deletion (frameshift variant)	Fraser syndrome 2	GPathogenic
Select item 916648	NM_207361.6(FREM2):c.1930C>T (p.Gln644Ter)	FREM2 (Q644*)	Single nucleotide variant (nonsense)	Fraser syndrome 2	GPathogenic
Select item 916636	NM_207361.6(FREM2):c.6186_6188delinsAATTACAGAA (p.Gly2063fs)	FREM2 (G2063fs)	Indel (frameshift variant)	Fraser syndrome 2	GPathogenic
Select item 916635	NM_207361.6(FREM2):c.1266del (p.Asp423fs)	FREM2 (D423fs)	Deletion (frameshift variant)	Fraser syndrome 2	GPathogenic
Select item 916634	NM_207361.6(FREM2):c.4538A>G (p.Asp1513Gly)	FREM2 (D1513G)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GLikely pathogenic
Select item 884195	NM_207361.6(FREM2):c.65C>T (p.Pro22Leu)	FREM2 (P22L)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 884194	NM_207361.6(FREM2):c.-33A>G	FREM2	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883764	NM_207361.6(FREM2):c.*5640C>T	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883763	NM_207361.6(FREM2):c.*5616T>A	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883762	NM_207361.6(FREM2):c.*5614G>T	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883708	NM_207361.6(FREM2):c.*4141T>G	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883707	NM_207361.6(FREM2):c.*3650A>G	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883706	NM_207361.6(FREM2):c.*3553C>T	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883705	NM_207361.6(FREM2):c.*3487A>C	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883653	NM_207361.6(FREM2):c.*1797C>T	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883652	NM_207361.6(FREM2):c.*1695T>C	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883607	NM_207361.6(FREM2):c.*294G>T	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883606	NM_207361.6(FREM2):c.*224G>A	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883605	NM_207361.6(FREM2):c.*223C>T	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GLikely benign
Select item 883604	NM_207361.6(FREM2):c.*174C>G	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 883566	NM_207361.6(FREM2):c.8172T>A (p.Leu2724=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 883565	NM_207361.6(FREM2):c.7873C>A (p.Arg2625Ser)	FREM2 (R2625S)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +3 more	GUncertain significance
Select item 883516	NM_207361.6(FREM2):c.6380-15C>G	FREM2	Single nucleotide variant (intron variant)	Fraser syndrome 2	GUncertain significance
Select item 883515	NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro)	FREM2 (S2123P)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 883470	NM_207361.6(FREM2):c.5494C>A (p.Gln1832Lys)	FREM2 (Q1832K)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 883469	NM_207361.6(FREM2):c.5410+11T>A	FREM2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 883468	NM_207361.6(FREM2):c.5378G>A (p.Arg1793His)	FREM2 (R1793H)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 883420	NM_207361.6(FREM2):c.4309G>A (p.Val1437Ile)	FREM2 (V1437I)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 883419	NM_207361.6(FREM2):c.4172G>A (p.Arg1391Gln)	FREM2 (R1391Q)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 883377	NM_207361.6(FREM2):c.2580T>C (p.Asp860=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2	GUncertain significance
Select item 883328	NM_207361.6(FREM2):c.1398A>G (p.Gln466=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 883327	NM_207361.6(FREM2):c.1345C>G (p.Leu449Val)	FREM2 (L449V)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 882964	NM_207361.6(FREM2):c.*5344T>G	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GBenign
Select item 882963	NM_207361.6(FREM2):c.*5171T>A	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 882912	NM_207361.6(FREM2):c.*3384G>A	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 882911	NM_207361.6(FREM2):c.*3278C>T	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 882910	NM_207361.6(FREM2):c.*3150G>C	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 882909	NM_207361.6(FREM2):c.*3136G>A	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GLikely benign
Select item 882859	NM_207361.6(FREM2):c.*1568A>G	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GUncertain significance
Select item 882858	NM_207361.6(FREM2):c.*1379T>C	FREM2	Single nucleotide variant (3 prime UTR variant)	Fraser syndrome 2	GBenign
Select item 882781	NM_207361.6(FREM2):c.7519+12C>T	FREM2	Single nucleotide variant (intron variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 882780	NM_207361.6(FREM2):c.7441G>A (p.Ala2481Thr)	FREM2 (A2481T)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 882779	NM_207361.6(FREM2):c.7429C>T (p.Arg2477Trp)	FREM2 (R2477W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882728	NM_207361.6(FREM2):c.6334G>A (p.Glu2112Lys)	FREM2 (E2112K)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 882727	NM_207361.6(FREM2):c.6196C>G (p.Arg2066Gly)	FREM2 (R2066G)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 882691	NM_207361.6(FREM2):c.5263+10C>T	FREM2	Single nucleotide variant (intron variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 882690	NM_207361.6(FREM2):c.5185G>A (p.Asp1729Asn)	FREM2 (D1729N)	Single nucleotide variant (missense variant)	Fraser syndrome 2	GUncertain significance
Select item 882689	NM_207361.6(FREM2):c.4991C>T (p.Ala1664Val)	FREM2 (A1664V)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 882642	NM_207361.6(FREM2):c.3908C>T (p.Thr1303Met)	FREM2 (T1303M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 882594	NM_207361.6(FREM2):c.2366C>T (p.Pro789Leu)	FREM2 (P789L)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance

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