"Ambry Genetics"[submitter] AND "RBFOX2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2621955	NM_001349999.2(RBFOX2):c.1270C>T (p.Pro424Ser)	RBFOX2 (P358S +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538782	NM_001349999.2(RBFOX2):c.1093C>G (p.Pro365Ala)	RBFOX2 (P295A +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322957	NM_001349999.2(RBFOX2):c.1054G>T (p.Ala352Ser)	RBFOX2 (A282S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289274	NM_001349999.2(RBFOX2):c.982C>T (p.Pro328Ser)	RBFOX2 (P283S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362058	NM_001349999.2(RBFOX2):c.788A>G (p.Asn263Ser)	RBFOX2 (N192S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521760	NM_001349999.2(RBFOX2):c.523dup (p.Ser175fs)	RBFOX2 (S126fs +5 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2545487	NM_001349999.2(RBFOX2):c.497A>G (p.Gln166Arg)	RBFOX2 (Q165R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339506	NM_001349999.2(RBFOX2):c.472G>T (p.Gly158Cys)	RBFOX2 (G157C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301452	NM_001349999.2(RBFOX2):c.397G>A (p.Gly133Arg)	RBFOX2 (G133R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389751	NM_001349999.2(RBFOX2):c.294C>G (p.Ile98Met)	RBFOX2 (I50M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510194	NM_001349999.2(RBFOX2):c.271A>G (p.Met91Val)	RBFOX2 (M21V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance