ClinVar for MedGen (Select 383680) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233398	NM_001379081.2(FREM1):c.3165dup (p.Ala1056fs)	FREM1 (A1056fs)	Duplication (frameshift variant +1 more)	Oculotrichoanal syndrome	GLikely pathogenic
Select item 3065979	NM_001379081.2(FREM1):c.5205-2A>G	FREM1	Single nucleotide variant (splice acceptor variant)	Oculotrichoanal syndrome	GLikely pathogenic
Select item 2444408	NM_001379081.2(FREM1):c.4490T>C (p.Ile1497Thr)	FREM1 (I1497T +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 2444260	NM_001379081.2(FREM1):c.92G>A (p.Gly31Glu)	FREM1 (G31E)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 1656811	NM_001379081.2(FREM1):c.5049C>T (p.Asn1683=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1632347	NM_001379081.2(FREM1):c.5335-11del	FREM1	Deletion (intron variant)	BNAR syndrome +3 more	GBenign/Likely benign
Select item 1632289	NM_001379081.2(FREM1):c.2337+19A>G	FREM1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1595913	NM_001379081.2(FREM1):c.3472-20T>C	FREM1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1585975	NM_001379081.2(FREM1):c.483C>T (p.Phe161=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	BNAR syndrome +3 more	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 1520000	NM_001379081.2(FREM1):c.347C>G (p.Thr116Ser)	FREM1 (T116S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1508407	NM_001379081.2(FREM1):c.6010-3A>G	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 1468440	NM_001379081.2(FREM1):c.5942T>A (p.Ile1981Asn)	FREM1 (I467N +2 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 1456096	NM_001379081.2(FREM1):c.4983T>A (p.Pro1661=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +3 more	GLikely benign
Select item 1411148	NM_001379081.2(FREM1):c.5779C>T (p.Arg1927Cys)	FREM1 (R413C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1410085	NM_001379081.2(FREM1):c.3860A>G (p.Asn1287Ser)	FREM1 (N1287S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1406788	NM_001379081.2(FREM1):c.6430C>T (p.Arg2144Cys)	FREM1 (R680C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1368102	NM_001379081.2(FREM1):c.4477G>A (p.Gly1493Arg)	FREM1 (G29R +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 1304737	NM_001379081.2(FREM1):c.1357G>A (p.Val453Ile)	FREM1 (V453I)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2 +4 more	GUncertain significance
Select item 1254680	NM_001379081.2(FREM1):c.6341-23T>C	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +1 more	GBenign
Select item 1234230	NM_001379081.2(FREM1):c.828+33G>C	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +1 more	GBenign
Select item 1225966	NM_001379081.2(FREM1):c.1262-33G>C	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +1 more	GBenign
Select item 1030227	NM_001379081.2(FREM1):c.2042C>T (p.Thr681Ile)	FREM1 (T681I)	Single nucleotide variant (missense variant +1 more)	BNAR syndrome +2 more	GUncertain significance
Select item 976625	NM_001379081.2(FREM1):c.922G>C (p.Asp308His)	FREM1 (D308H +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GUncertain significance
Select item 976624	NM_001379081.2(FREM1):c.1038T>C (p.Thr346=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 976562	NM_001379081.2(FREM1):c.889G>T (p.Ala297Ser)	FREM1 (A297S +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 976561	NM_001379081.2(FREM1):c.916G>A (p.Glu306Lys)	FREM1 (E315K +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 915240	NM_144966.6(FREM1):c.*2496C>G	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 914853	NM_001379081.2(FREM1):c.-88T>G	FREM1	Single nucleotide variant (5 prime UTR variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914852	NM_001379081.2(FREM1):c.-12G>C	FREM1	Single nucleotide variant (5 prime UTR variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914780	NM_001379081.2(FREM1):c.2152C>T (p.Leu718=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome	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 914724	NM_001379081.2(FREM1):c.3340A>T (p.Ile1114Leu)	FREM1 (I1114L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 914723	NM_001379081.2(FREM1):c.3404T>C (p.Ile1135Thr)	FREM1 (I1135T)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +1 more	GLikely benign
Select item 914685	NM_001379081.2(FREM1):c.4238C>G (p.Thr1413Arg)	FREM1 (T1413R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 914684	NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Trigonocephaly 2 +3 more	GConflicting classifications of pathogenicity
Select item 914647	NM_001379081.2(FREM1):c.5107A>G (p.Thr1703Ala)	FREM1 (T1703A +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914646	NM_001379081.2(FREM1):c.5188T>G (p.Ser1730Ala)	FREM1 (S1730A +1 more)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2 +3 more	GUncertain significance
Select item 914645	NM_001379081.2(FREM1):c.5204+8C>G	FREM1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914644	NM_001379081.2(FREM1):c.5205-14C>T	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +1 more	GBenign/Likely benign
Select item 914604	NM_001379081.2(FREM1):c.*202G>C	FREM1	Single nucleotide variant (3 prime UTR variant +1 more)	Oculotrichoanal syndrome	GLikely benign
Select item 914564	NM_144966.6(FREM1):c.*1420T>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 914563	NM_144966.6(FREM1):c.*1663T>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 914358	NM_001379081.2(FREM1):c.49C>T (p.Leu17Phe)	FREM1 (L17F)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914357	NM_001379081.2(FREM1):c.162G>A (p.Glu54=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914322	NM_001379081.2(FREM1):c.1053C>T (p.His351=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914321	NM_001379081.2(FREM1):c.1238C>T (p.Ala413Val)	FREM1 (A422V +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914320	NM_001379081.2(FREM1):c.1329C>T (p.Asp443=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +1 more	GBenign/Likely benign
Select item 914282	NM_001379081.2(FREM1):c.2299A>C (p.Asn767His)	FREM1 (N767H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 914281	NM_001379081.2(FREM1):c.2442C>T (p.Leu814=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914280	NM_001379081.2(FREM1):c.2450G>A (p.Arg817Gln)	FREM1 (R817Q)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GConflicting classifications of pathogenicity
Select item 914239	NM_001379081.2(FREM1):c.3472-3C>A	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome	GUncertain significance
Select item 914238	NM_001379081.2(FREM1):c.3517G>T (p.Ala1173Ser)	FREM1 (A1173S)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2 +3 more	GBenign/Likely benign
Select item 914237	NM_001379081.2(FREM1):c.3542A>T (p.Asp1181Val)	FREM1 (D1181V)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2 +3 more	GUncertain significance
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 914185	NM_001379081.2(FREM1):c.4684C>A (p.Leu1562Ile)	FREM1 (L1562I +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914184	NM_001379081.2(FREM1):c.4684C>G (p.Leu1562Val)	FREM1 (L1562V +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GUncertain significance
Select item 914183	NM_001379081.2(FREM1):c.4706A>G (p.Gln1569Arg)	FREM1 (Q105R +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914141	NM_001379081.2(FREM1):c.5335-15T>C	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome	GUncertain significance
Select item 914140	NM_001379081.2(FREM1):c.5335-13T>C	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome	GUncertain significance
Select item 914139	NM_001379081.2(FREM1):c.5692C>G (p.Pro1898Ala)	FREM1 (P1898A +2 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914094	NM_001379081.2(FREM1):c.*217T>G	FREM1	Single nucleotide variant (3 prime UTR variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914093	NM_001379081.2(FREM1):c.*240A>T	FREM1	Single nucleotide variant (3 prime UTR variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 914092	NM_144966.6(FREM1):c.*334A>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GLikely benign
Select item 914054	NM_144966.6(FREM1):c.*1737G>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 914053	NM_144966.6(FREM1):c.*1844G>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GLikely benign
Select item 913790	NM_001379081.2(FREM1):c.4820G>A (p.Gly1607Glu)	FREM1 (G143E +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 913789	NM_001379081.2(FREM1):c.4845A>G (p.Leu1615=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 913741	NM_001379081.2(FREM1):c.6139-14C>T	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome	GUncertain significance
Select item 913698	NM_144966.6(FREM1):c.*616G>A	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GLikely benign
Select item 913697	NM_144966.6(FREM1):c.*652A>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 913696	NM_144966.6(FREM1):c.*737C>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 913695	NM_144966.6(FREM1):c.*978A>G	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 913651	NM_144966.6(FREM1):c.*2067C>T	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 913650	NM_144966.6(FREM1):c.*2230G>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GUncertain significance
Select item 913649	NM_144966.6(FREM1):c.*2313T>C	FREM1	Single nucleotide variant	Oculotrichoanal syndrome	GLikely benign
Select item 913278	NM_144966.7(FREM1):c.-708C>T	FREM1	Single nucleotide variant (5 prime UTR variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
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 913239	NM_001379081.2(FREM1):c.329+10A>C	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 913238	NM_001379081.2(FREM1):c.517G>A (p.Val173Ile)	FREM1 (V173I)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 913237	NM_001379081.2(FREM1):c.544C>G (p.Leu182Val)	FREM1 (L182V)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2 +3 more	GUncertain significance
Select item 913187	NM_001379081.2(FREM1):c.1394-15T>C	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +2 more	GUncertain significance
Select item 913186	NM_001379081.2(FREM1):c.1397G>A (p.Gly466Glu)	FREM1 (G466E)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 913185	NM_001379081.2(FREM1):c.1416C>T (p.Thr472=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 913135	NM_001379081.2(FREM1):c.2504G>A (p.Gly835Glu)	FREM1 (G835E)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 913134	NM_001379081.2(FREM1):c.2640+3G>A	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome	GUncertain significance
Select item 913133	NM_001379081.2(FREM1):c.2640+7A>G	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +1 more	GConflicting classifications of pathogenicity
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 913086	NM_001379081.2(FREM1):c.3813T>A (p.Val1271=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +3 more	GConflicting classifications of pathogenicity
Select item 912911	NM_001379081.2(FREM1):c.-491C>T	FREM1	Single nucleotide variant (5 prime UTR variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 912910	NM_001379081.2(FREM1):c.-476G>T	FREM1	Single nucleotide variant (5 prime UTR variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 912909	NM_001379081.2(FREM1):c.-395C>T	FREM1	Single nucleotide variant (5 prime UTR variant +2 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 912908	NM_001379081.2(FREM1):c.-265T>C	FREM1	Single nucleotide variant (5 prime UTR variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 912907	NM_001379081.2(FREM1):c.-194G>A	FREM1	Single nucleotide variant (5 prime UTR variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 912862	NM_001379081.2(FREM1):c.597T>G (p.Arg199=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 912820	NM_001379081.2(FREM1):c.1878A>G (p.Pro626=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 912819	NM_001379081.2(FREM1):c.1881G>A (p.Gln627=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome	GUncertain significance
Select item 912818	NM_001379081.2(FREM1):c.1917G>A (p.Gln639=)	FREM1	Single nucleotide variant (synonymous 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

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