"PreventionGenetics, part of Exact Sciences"[submitter] AND "RBFOX3"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 416625	NM_001350451.2(RBFOX3):c.998+9G>T	RBFOX3	Single nucleotide variant (intron variant)	RBFOX3-related disorder +1 more	GBenign
Select item 529545	NM_001350451.2(RBFOX3):c.978G>A (p.Ala326=)	RBFOX3	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 697281	NM_001350451.2(RBFOX3):c.970G>A (p.Ala324Thr)	RBFOX3 (A324T +6 more)	Single nucleotide variant (missense variant)	RBFOX3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 529539	NM_001350451.2(RBFOX3):c.641C>A (p.Pro214His)	RBFOX3 (P214H +4 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GBenign
Select item 3046473	NM_001350451.2(RBFOX3):c.390C>A (p.Ile130=)	RBFOX3	Single nucleotide variant (synonymous variant +1 more)	RBFOX3-related disorder	GLikely benign
Select item 1100274	NM_001350451.2(RBFOX3):c.343T>C (p.Leu115=)	RBFOX3	Single nucleotide variant (synonymous variant)	RBFOX3-related disorder +1 more	GLikely benign
Select item 238284	NM_001350451.2(RBFOX3):c.321C>T (p.Pro107=)	RBFOX3	Single nucleotide variant (synonymous variant)	RBFOX3-related disorder +1 more	GBenign
Select item 460022	NM_001350451.2(RBFOX3):c.271G>A (p.Asp91Asn)	RBFOX3 (D91N +1 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 1011747	NM_001350451.2(RBFOX3):c.89C>T (p.Thr30Met)	RBFOX3 (T30M)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 701100	NM_001350451.2(RBFOX3):c.33C>A (p.Pro11=)	RBFOX3	Single nucleotide variant (synonymous variant)	RBFOX3-related disorder +1 more	GLikely benign
Select item 1169229	NM_001350451.2(RBFOX3):c.10C>A (p.Pro4Thr)	RBFOX3 (P4T)	Single nucleotide variant (missense variant)	RBFOX3-related disorder +1 more	GBenign/Likely benign