"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366099	NM_001379081.2(FREM1):c.6528C>T (p.Ser2176=)	FREM1	Single nucleotide variant (synonymous variant +2 more)	not provided +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)	not specified +2 more	GBenign
Select item 730988	NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=)	FREM1 (P534S)	Single nucleotide variant (synonymous variant +2 more)	Oculotrichoanal syndrome +2 more	GConflicting classifications of pathogenicity
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 366117	NM_001379081.2(FREM1):c.4857+8T>C	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +1 more	GBenign
Select item 262542	NM_001379081.2(FREM1):c.4791T>C (p.Asp1597=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +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 30764	NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)	FREM1 (L1324R)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +1 more	GLikely pathogenic
Select item 366129	NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu)	FREM1 (D1273E)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +1 more	GBenign
Select item 262538	NM_001379081.2(FREM1):c.3657A>G (p.Ala1219=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 194992	NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +2 more	GConflicting classifications of pathogenicity
Select item 262536	NM_001379081.2(FREM1):c.3089-4G>T	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +2 more	GBenign
Select item 366138	NM_001379081.2(FREM1):c.2796C>T (p.Arg932=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +1 more	GBenign/Likely benign
Select item 1284969	NM_001379081.2(FREM1):c.2459C>T (p.Pro820Leu)	FREM1 (P820L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 262535	NM_001379081.2(FREM1):c.2408C>A (p.Ser803Tyr)	FREM1 (S803Y)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign
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 +5 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)	Oculotrichoanal syndrome +2 more	GBenign
Select item 262546	NM_001379081.2(FREM1):c.829-12A>G	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +2 more	GBenign