"GeneDx"[submitter] AND "EFL1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151220	GRCh38/hg38 15q25.2(chr15:82127892-82258878)x3	EFL1, LOC129390726 +1 more	Copy number gain	See cases	GLikely benign
Select item 3371490	NM_024580.6(EFL1):c.2626G>A (p.Ala876Thr)	EFL1 (A613T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1165404	NM_024580.6(EFL1):c.2358T>C (p.Gly786=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1434240	NM_024580.6(EFL1):c.1511C>T (p.Ser504Phe)	EFL1 (S453F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1431452	NM_024580.6(EFL1):c.988C>T (p.Arg330Trp)	EFL1 (R279W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1444284	NM_024580.6(EFL1):c.837G>T (p.Lys279Asn)	EFL1 (K16N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662227	NM_024580.6(EFL1):c.713T>C (p.Ile238Thr)	EFL1 (I187T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2503144	NM_024580.6(EFL1):c.574A>G (p.Arg192Gly)	EFL1 (R141G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1025824	NM_024580.6(EFL1):c.515A>G (p.Gln172Arg)	EFL1 (Q121R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1304684	NM_024580.6(EFL1):c.244+2T>G	EFL1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 253956	GRCh37/hg19 15q25.2(chr15:82133231-83455333)x3	FSD2, EFL1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic