"Ambry Genetics"[submitter] AND "USF2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3187014	NM_003367.4(USF2):c.13G>C (p.Asp5His)	USF2 (D5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523154	NM_003367.4(USF2):c.38C>T (p.Ser13Leu)	USF2 (S13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187020	NM_003367.4(USF2):c.64C>A (p.His22Asn)	LOC130064217, USF2 (H22N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187021	NM_003367.4(USF2):c.87G>T (p.Glu29Asp)	LOC130064217, USF2 (E29D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331264	NM_003367.4(USF2):c.146T>G (p.Val49Gly)	USF2 (V49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525134	NM_003367.4(USF2):c.152T>G (p.Ile51Ser)	USF2 (I51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331267	NM_003367.4(USF2):c.185A>T (p.His62Leu)	USF2 (H62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296276	NM_003367.4(USF2):c.185A>G (p.His62Arg)	USF2 (H62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187015	NM_003367.4(USF2):c.205C>T (p.Arg69Cys)	USF2 (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187016	NM_003367.4(USF2):c.271G>C (p.Gly91Arg)	LOC130064218, USF2 (G91R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604201	NM_003367.4(USF2):c.271G>A (p.Gly91Ser)	LOC130064218, USF2 (G91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331265	NM_003367.4(USF2):c.349G>C (p.Val117Leu)	LOC130064218, USF2 (V117L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380317	NM_003367.4(USF2):c.374G>A (p.Arg125His)	LOC130064218, USF2 (R125H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340966	NM_003367.4(USF2):c.403C>T (p.Pro135Ser)	LOC130064218, USF2 (P135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187017	NM_003367.4(USF2):c.478G>A (p.Ala160Thr)	USF2 (A160T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187018	NM_003367.4(USF2):c.493G>T (p.Ala165Ser)	USF2 (A165S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245699	NM_003367.4(USF2):c.493G>A (p.Ala165Thr)	USF2 (A98T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331262	NM_003367.4(USF2):c.533C>A (p.Thr178Asn)	USF2 (T111N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306489	NM_003367.4(USF2):c.535A>G (p.Thr179Ala)	USF2 (T112A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331261	NM_003367.4(USF2):c.632A>C (p.Gln211Pro)	USF2 (Q144P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247599	NM_003367.4(USF2):c.659C>T (p.Pro220Leu)	USF2 (P89L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394356	NM_003367.4(USF2):c.677A>G (p.Asp226Gly)	USF2 (D159G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331266	NM_003367.4(USF2):c.739C>T (p.Arg247Trp)	USF2 (R247W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331263	NM_003367.4(USF2):c.917G>A (p.Arg306Gln)	USF2 (R239Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263174	NM_003367.4(USF2):c.934G>A (p.Glu312Lys)	USF2 (E181K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226398	NM_003367.4(USF2):c.954C>G (p.Ile318Met)	USF2 (I251M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26