"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262545	NM_001379081.2(FREM1):c.6428A>C (p.Gln2143Pro)	FREM1 (Q2143P +1 more)	Single nucleotide variant (missense variant +2 more)	Oculotrichoanal syndrome +2 more	GBenign
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)	not provided +1 more	GBenign
Select item 262542	NM_001379081.2(FREM1):c.4791T>C (p.Asp1597=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +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 262538	NM_001379081.2(FREM1):c.3657A>G (p.Ala1219=)	FREM1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 262536	NM_001379081.2(FREM1):c.3089-4G>T	FREM1	Single nucleotide variant (intron variant)	Oculotrichoanal syndrome +2 more	GBenign
Select item 262535	NM_001379081.2(FREM1):c.2408C>A (p.Ser803Tyr)	FREM1 (S803Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 262534	NM_001379081.2(FREM1):c.1315G>C (p.Val439Leu)	FREM1 (V439L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 262546	NM_001379081.2(FREM1):c.829-12A>G	FREM1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign