"GeneDx"[submitter] AND "RBFOX1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 151824	GRCh38/hg38 16p13.3(chr16:5563365-5967775)x3	LINC01570, LOC126862272 +5 more	Copy number gain	See cases	GBenign
Select item 59433	GRCh38/hg38 16p13.3-13.2(chr16:5589104-8091212)x1	LINC01570, LOC105371069 +22 more	Copy number loss	See cases	GPathogenic
Select item 151588	GRCh38/hg38 16p13.3(chr16:6081104-6735606)x3	LOC107522031, RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 145048	GRCh38/hg38 16p13.3(chr16:6099326-6470232)x3	RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 59461	GRCh38/hg38 16p13.3(chr16:6305477-6373270)x1	RBFOX1	Copy number loss	See cases	GPathogenic
Select item 152594	GRCh38/hg38 16p13.3(chr16:6664224-6786909)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 59463	GRCh38/hg38 16p13.3(chr16:6698766-7028200)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GPathogenic
Select item 59465	GRCh38/hg38 16p13.3(chr16:6717241-7051313)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GPathogenic
Select item 152601	GRCh38/hg38 16p13.3(chr16:6735606-7038925)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GLikely benign
Select item 145050	GRCh38/hg38 16p13.3(chr16:6900958-6922247)x1	RBFOX1	Copy number loss	See cases	GBenign
Select item 152590	GRCh38/hg38 16p13.3(chr16:6996159-7051254)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GLikely benign
Select item 420861	NM_145893.3(RBFOX1):c.79C>G (p.Leu27Val)	RBFOX1 (L27V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 59950	GRCh38/hg38 16p13.3(chr16:7503171-7752948)x3	LOC126862278, LOC126862279 +1 more	Copy number gain	See cases	GUncertain significance
Select item 423873	NM_018723.4(RBFOX1):c.31A>G (p.Asn11Asp)	RBFOX1 (N11D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 415958	NM_018723.4(RBFOX1):c.126G>A (p.Thr42=)	RBFOX1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 423234	NM_018723.4(RBFOX1):c.178G>A (p.Glu60Lys)	RBFOX1 (E60K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383748	NM_018723.4(RBFOX1):c.353G>A (p.Arg118Gln)	LOC126862278, RBFOX1 (R118Q +2 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 451041	NM_018723.4(RBFOX1):c.403C>T (p.Gln135Ter)	LOC126862278, RBFOX1 (Q135* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 423334	NM_018723.4(RBFOX1):c.515C>T (p.Ala172Val)	RBFOX1 (A172V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 59951	GRCh38/hg38 16p13.3(chr16:7689761-7761625)x3	LOC126862279, RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 451157	NM_018723.4(RBFOX1):c.999C>A (p.Tyr333Ter)	LOC126862279, RBFOX1 (T372K +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 451270	NM_018723.4(RBFOX1):c.1060G>T (p.Val354Phe)	LOC126862279, RBFOX1 (V354F +3 more)	Single nucleotide variant (missense variant +1 more)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 253957	GRCh37/hg19 16p13.3(chr16:6757184-7102232)x3	RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 253936	GRCh37/hg19 16p13.3(chr16:5961277-6149386)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 253925	GRCh37/hg19 16p13.3(chr16:6266578-6388707)x1	RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 253896	GRCh37/hg19 16p13.3(chr16:6266578-7008383)x1	RBFOX1	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28