"3billion"[submitter] AND "FREM2"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2413596	NM_207361.6(FREM2):c.437C>G (p.Pro146Arg)	FREM2 (P146R)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 2356643	NM_207361.6(FREM2):c.2129G>A (p.Arg710His)	FREM2 (R710H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2186514	NM_207361.6(FREM2):c.2216G>A (p.Arg739His)	FREM2 (R739H)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GConflicting classifications of pathogenicity
Select item 1687536	NM_207361.6(FREM2):c.3151C>T (p.Gln1051Ter)	FREM2 (Q1051*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 882376	NM_207361.6(FREM2):c.3296A>G (p.Asn1099Ser)	FREM2 (N1099S)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1687466	NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr)	FREM2 (H1384Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 311997	NM_207361.6(FREM2):c.5677G>A (p.Val1893Ile)	FREM2 (V1893I)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +1 more	GConflicting classifications of pathogenicity
Select item 1524852	NM_207361.6(FREM2):c.6201T>A (p.Asn2067Lys)	FREM2 (N2067K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2081662	NM_207361.6(FREM2):c.6614A>G (p.Asp2205Gly)	FREM2 (D2205G)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GConflicting classifications of pathogenicity
Select item 1333452	NM_207361.6(FREM2):c.8144G>A (p.Gly2715Glu)	FREM2, LOC130009588 (G2715E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance