"Ambry Genetics"[submitter] AND "EFL1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 985048	NM_024580.6(EFL1):c.3233G>A (p.Gly1078Glu)	EFL1 (G1027E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2373895	NM_024580.6(EFL1):c.2959T>G (p.Cys987Gly)	EFL1 (C724G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2075681	NM_024580.6(EFL1):c.2950A>G (p.Met984Val)	EFL1 (M984V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 985047	NM_024580.6(EFL1):c.2908C>T (p.Arg970Cys)	EFL1 (R707C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2155293	NM_024580.6(EFL1):c.2612G>A (p.Ser871Asn)	EFL1 (S871N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2238105	NM_024580.6(EFL1):c.2548G>A (p.Gly850Ser)	EFL1 (G850S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309195	NM_024580.6(EFL1):c.2378A>G (p.His793Arg)	EFL1 (H530R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400950	NM_024580.6(EFL1):c.2245G>A (p.Ala749Thr)	EFL1 (A486T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408585	NM_024580.6(EFL1):c.2186C>A (p.Pro729His)	EFL1 (P729H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1489977	NM_024580.6(EFL1):c.2005C>T (p.Arg669Ter)	EFL1 (R406* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2377529	NM_024580.6(EFL1):c.1592C>T (p.Pro531Leu)	EFL1 (P531L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1434240	NM_024580.6(EFL1):c.1511C>T (p.Ser504Phe)	EFL1 (S453F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1943726	NM_024580.6(EFL1):c.1474C>T (p.Pro492Ser)	EFL1 (P229S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2239885	NM_024580.6(EFL1):c.1444+3A>C	EFL1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 707938	NM_024580.6(EFL1):c.1025A>G (p.Asn342Ser)	EFL1 (N291S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2239886	NM_024580.6(EFL1):c.950A>G (p.Asp317Gly)	EFL1 (D266G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1383604	NM_024580.6(EFL1):c.901A>C (p.Ile301Leu)	EFL1, LOC129390726 (I301L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 741508	NM_024580.6(EFL1):c.712A>G (p.Ile238Val)	EFL1 (I238V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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