"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "RBFOX1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2646176	NM_018723.4(RBFOX1):c.28-7847G>C	RBFOX1 (R7S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1080179	NM_018723.4(RBFOX1):c.51C>A (p.Ala17=)	RBFOX1	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 241957	NM_018723.4(RBFOX1):c.282C>T (p.Asp94=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2646177	NM_018723.4(RBFOX1):c.309G>A (p.Gln103=)	LOC126862278, RBFOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646178	NM_018723.4(RBFOX1):c.1071+369G>C	LOC126862279, RBFOX1 (G345R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 624080	NM_018723.4(RBFOX1):c.1177C>T (p.Arg393Cys)	RBFOX1 (R393C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1176675	GRCh37/hg19 16p13.3(chr16:7354384-7383089)x1	RBFOX1	Copy number loss	not provided	GLikely pathogenic
Select item 1013115	GRCh37/hg19 16p13.3(chr16:7354384-7383089)x3	RBFOX1	Copy number gain	not provided	GLikely pathogenic
Select item 624494	GRCh37/hg19 16p13.3-13.2(chr16:5198105-8500444)x1	RBFOX1	Copy number loss	not provided	GUncertain significance

ClinVar