"Ambry Genetics"[submitter] AND "LOC126860582"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2332768	NM_001379081.2(FREM1):c.2854A>G (p.Arg952Gly)	FREM1, LOC126860582 (R952G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 366137	NM_001379081.2(FREM1):c.2818A>G (p.Arg940Gly)	FREM1, LOC126860582 (R940G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 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)	Oculotrichoanal syndrome +4 more	GUncertain significance
Select item 2324525	NM_001379081.2(FREM1):c.2794C>T (p.Arg932Cys)	FREM1, LOC126860582 (R932C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 912776	NM_001379081.2(FREM1):c.2788A>G (p.Ile930Val)	FREM1, LOC126860582 (I930V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2284532	NM_001379081.2(FREM1):c.2764G>C (p.Asp922His)	FREM1, LOC126860582 (D922H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394078	NM_001379081.2(FREM1):c.2723T>C (p.Val908Ala)	FREM1, LOC126860582 (V908A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2591618	NM_001379081.2(FREM1):c.2650G>A (p.Val884Ile)	FREM1, LOC126860582 (V884I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611625	NM_001379081.2(FREM1):c.2648C>T (p.Pro883Leu)	FREM1, LOC126860582 (P883L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance