"Revvity Omics, Revvity"[submitter] AND "FREM2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 882275	NM_207361.6(FREM2):c.383C>T (p.Pro128Leu)	FREM2 (P128L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1303789	NM_207361.6(FREM2):c.1364G>A (p.Arg455Gln)	FREM2 (R455Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1322940	NM_207361.6(FREM2):c.2833del (p.His945fs)	FREM2 (H945fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1468169	NM_207361.6(FREM2):c.2987T>A (p.Val996Asp)	FREM2 (V996D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1322942	NM_207361.6(FREM2):c.3955dup (p.Thr1319fs)	FREM2 (T1319fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2441576	NM_207361.6(FREM2):c.4378A>G (p.Ile1460Val)	FREM2 (I1460V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1322941	NM_207361.6(FREM2):c.4396C>T (p.Arg1466Ter)	FREM2 (R1466*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2441577	NM_207361.6(FREM2):c.5617G>A (p.Val1873Ile)	FREM2 (V1873I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441575	NM_207361.6(FREM2):c.6547A>G (p.Thr2183Ala)	FREM2 (T2183A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 702800	NM_207361.6(FREM2):c.6674A>G (p.Asn2225Ser)	FREM2 (N2225S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2689092	NM_207361.6(FREM2):c.7533C>T (p.Pro2511=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1179176	NM_207361.6(FREM2):c.8176+2dup	FREM2	Duplication (splice donor variant)	Fraser syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 312035	NM_207361.6(FREM2):c.8918A>G (p.Lys2973Arg)	FREM2 (K2973R)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 1705208	NM_207361.6(FREM2):c.9019C>T (p.Arg3007Ter)	FREM2 (R3007*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1371339	NM_207361.6(FREM2):c.9356C>T (p.Thr3119Met)	FREM2 (T3119M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance