ClinVar for MedGen (Select 482604) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1656811	NM_001379081.2(FREM1):c.5049C>T (p.Asn1683=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +3 more	GBenign/Likely benign
Select item 1632347	NM_001379081.2(FREM1):c.5335-11del	FREM1	Deletion (intron variant)	not provided +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)	Oculotrichoanal syndrome +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)	Oculotrichoanal syndrome +3 more	GLikely benign
Select item 1571842	NM_001379081.2(FREM1):c.2811G>A (p.Gly937=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +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)	Trigonocephaly 2 +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)	BNAR 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)	not provided +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)	Oculotrichoanal syndrome +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)	Inborn genetic diseases +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)	BNAR syndrome +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)	not provided +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)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1033108	NM_001379081.2(FREM1):c.3355G>T (p.Asp1119Tyr)	FREM1 (D1119Y)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2	GUncertain significance
Select item 1030228	NM_001379081.2(FREM1):c.3694+6G>C	FREM1	Single nucleotide variant (intron variant)	Trigonocephaly 2	GUncertain significance
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 914684	NM_001379081.2(FREM1):c.4500G>A (p.Glu1500=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +3 more	GConflicting classifications of pathogenicity
Select item 914646	NM_001379081.2(FREM1):c.5188T>G (p.Ser1730Ala)	FREM1 (S1730A +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	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 914238	NM_001379081.2(FREM1):c.3517G>T (p.Ala1173Ser)	FREM1 (A1173S)	Single nucleotide variant (non-coding transcript variant +1 more)	Oculotrichoanal syndrome +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)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 913237	NM_001379081.2(FREM1):c.544C>G (p.Leu182Val)	FREM1 (L182V)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 913187	NM_001379081.2(FREM1):c.1394-15T>C	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +3 more	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 912774	NM_001379081.2(FREM1):c.2896G>A (p.Gly966Ser)	FREM1 (G966S)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 912722	NM_001379081.2(FREM1):c.4055G>C (p.Arg1352Thr)	FREM1 (R1352T)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2 +2 more	GUncertain significance
Select item 912721	NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg)	FREM1 (G1357R)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GConflicting classifications of pathogenicity
Select item 912681	NM_001379081.2(FREM1):c.4941C>T (p.Tyr1647=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +3 more	GBenign/Likely benign
Select item 912680	NM_001379081.2(FREM1):c.5072A>G (p.His1691Arg)	FREM1 (H227R +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GUncertain significance
Select item 912641	NM_001379081.2(FREM1):c.6286A>G (p.Arg2096Gly)	FREM1 (R632G +2 more)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2 +2 more	GUncertain significance
Select item 912640	NM_001379081.2(FREM1):c.6298C>T (p.Arg2100Trp)	FREM1 (A547V +2 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 810359	NM_001379081.2(FREM1):c.3562A>G (p.Thr1188Ala)	FREM1 (T1188A)	Single nucleotide variant (missense variant +1 more)	BNAR syndrome +4 more	GUncertain significance
Select item 737979	NM_001379081.2(FREM1):c.3378A>G (p.Thr1126=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 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 +3 more	GBenign/Likely benign
Select item 735809	NM_001379081.2(FREM1):c.4867T>C (p.Leu1623=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 734739	NM_001379081.2(FREM1):c.4995C>T (p.Asp1665=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +3 more	GLikely benign
Select item 726972	NM_001379081.2(FREM1):c.6279A>G (p.Val2093=)	FREM1 (I541V)	Single nucleotide variant (synonymous variant +2 more)	Trigonocephaly 2 +3 more	GBenign/Likely benign
Select item 726455	NM_001379081.2(FREM1):c.5316G>T (p.Ser1772=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Trigonocephaly 2 +3 more	GLikely benign
Select item 720123	NM_001379081.2(FREM1):c.246C>T (p.Cys82=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 637035	NM_001379081.2(FREM1):c.3148G>A (p.Ala1050Thr)	FREM1 (A1050T)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2 +2 more	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 499955	NM_001379081.2(FREM1):c.3513C>G (p.Ile1171Met)	FREM1 (I1171M)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 497702	NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met)	FREM1 (V1719M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 425454	NM_001379081.2(FREM1):c.578C>G (p.Pro193Arg)	FREM1 (P193R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 366171	NM_001379081.2(FREM1):c.516C>T (p.Thr172=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +3 more	GBenign/Likely benign
Select item 366169	NM_001379081.2(FREM1):c.550G>A (p.Ala184Thr)	FREM1 (A184T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 366160	NM_001379081.2(FREM1):c.1345C>T (p.Arg449Trp)	FREM1 (R449W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 366151	NM_001379081.2(FREM1):c.2113A>G (p.Ser705Gly)	FREM1 (S705G)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 366149	NM_001379081.2(FREM1):c.2170C>T (p.His724Tyr)	FREM1 (H724Y)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GUncertain significance
Select item 366145	NM_001379081.2(FREM1):c.2420C>G (p.Thr807Ser)	FREM1 (T807S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	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 366131	NM_001379081.2(FREM1):c.3756A>G (p.Gln1252=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +3 more	GConflicting classifications of pathogenicity
Select item 366126	NM_001379081.2(FREM1):c.3904A>G (p.Ile1302Val)	FREM1 (I1302V)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +4 more	GUncertain significance
Select item 366120	NM_001379081.2(FREM1):c.4552G>T (p.Ala1518Ser)	FREM1 (A1518S +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 366105	NM_001379081.2(FREM1):c.6104G>A (p.Gly2035Glu)	FREM1 (G2035E +2 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +4 more	GUncertain significance
Select item 366101	NM_001379081.2(FREM1):c.6454G>A (p.Val2152Ile)	FREM1 (V2152I +1 more)	Single nucleotide variant (missense variant +2 more)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 289622	NM_001379081.2(FREM1):c.292A>G (p.Ile98Val)	FREM1 (I98V)	Single nucleotide variant (missense variant +1 more)	BNAR syndrome +3 more	GUncertain significance
Select item 288264	NM_001379081.2(FREM1):c.382C>G (p.Leu128Val)	FREM1 (L128V)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 286076	NM_001379081.2(FREM1):c.241G>A (p.Asp81Asn)	FREM1 (D81N)	Single nucleotide variant (missense variant +1 more)	BNAR syndrome +3 more	GUncertain significance
Select item 282563	NM_001379081.2(FREM1):c.3857T>G (p.Met1286Arg)	FREM1 (M1286R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 218843	NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn)	FREM1 (S1471N)	Single nucleotide variant (missense variant +1 more)	Trigonocephaly 2 +5 more	GConflicting classifications of pathogenicity
Select item 197375	NM_001379081.2(FREM1):c.261C>T (p.Asn87=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +3 more	GUncertain significance
Select item 195994	NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe)	FREM1 (I1497F +1 more)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +4 more	GUncertain significance
Select item 30767	NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)	FREM1 (R498Q)	Single nucleotide variant (missense variant +1 more)	Irido-corneo-trabecular dysgenesis +3 more	GConflicting classifications of pathogenicity
Select item 30766	NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val)	FREM1 (E1500V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 30763	NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs)	FREM1 (K699fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic

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Items: 69