"Invitae"[submitter] AND "LOC126860582"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1590459	NM_001379081.2(FREM1):c.2893+8G>A	FREM1, LOC126860582	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2189090	NM_001379081.2(FREM1):c.2893+3A>C	FREM1, LOC126860582	Single nucleotide variant (intron variant)	not provided	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
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 2726514	NM_001379081.2(FREM1):c.2807A>G (p.His936Arg)	FREM1, LOC126860582 (H936R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 366138	NM_001379081.2(FREM1):c.2796C>T (p.Arg932=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	Oculotrichoanal syndrome +2 more	GBenign/Likely benign
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 2150693	NM_001379081.2(FREM1):c.2764G>A (p.Asp922Asn)	FREM1, LOC126860582 (D922N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2415768	NM_001379081.2(FREM1):c.2757G>C (p.Val919=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 366141	NM_001379081.2(FREM1):c.2727C>T (p.Ile909=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2136411	NM_001379081.2(FREM1):c.2718G>A (p.Glu906=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999823	NM_001379081.2(FREM1):c.2712A>C (p.Gly904=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2820320	NM_001379081.2(FREM1):c.2709G>A (p.Glu903=)	FREM1, LOC126860582	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1969639	NM_001379081.2(FREM1):c.2702G>T (p.Cys901Phe)	FREM1, LOC126860582 (C901F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2831708	NM_001379081.2(FREM1):c.2675A>C (p.Lys892Thr)	FREM1, LOC126860582 (K892T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2103099	NM_001379081.2(FREM1):c.2656G>A (p.Asp886Asn)	FREM1, LOC126860582 (D886N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1066336	NM_001379081.2(FREM1):c.2641-1G>T	FREM1, LOC126860582	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 366142	NM_001379081.2(FREM1):c.2641-10C>T	FREM1, LOC126860582	Single nucleotide variant (intron variant)	not provided +1 more	GBenign