"PreventionGenetics, part of Exact Sciences"[submitter] AND "EFL1"[gen - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1594477	NM_024580.6(EFL1):c.3117A>G (p.Glu1039=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1165403	NM_024580.6(EFL1):c.2971G>A (p.Ala991Thr)	EFL1 (A728T +2 more)	Single nucleotide variant (missense variant +1 more)	EFL1-related disorder +1 more	GBenign
Select item 1166425	NM_024580.6(EFL1):c.2856C>T (p.Asp952=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	EFL1-related disorder +1 more	GBenign
Select item 2824807	NM_024580.6(EFL1):c.2733A>G (p.Ala911=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1593141	NM_024580.6(EFL1):c.2631C>G (p.Thr877=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1097584	NM_024580.6(EFL1):c.2625A>G (p.Leu875=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	EFL1-related disorder +1 more	GLikely benign
Select item 720725	NM_024580.6(EFL1):c.2342C>T (p.Ser781Phe)	EFL1 (S781F +2 more)	Single nucleotide variant (missense variant +1 more)	EFL1-related disorder +1 more	GBenign/Likely benign
Select item 717031	NM_024580.6(EFL1):c.2326A>G (p.Met776Val)	EFL1 (M776V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 787963	NM_024580.6(EFL1):c.2268G>T (p.Met756Ile)	EFL1 (M705I +2 more)	Single nucleotide variant (missense variant +1 more)	EFL1-related disorder +1 more	GBenign
Select item 1167685	NM_024580.6(EFL1):c.2132A>G (p.Lys711Arg)	EFL1 (K448R +2 more)	Single nucleotide variant (missense variant +1 more)	EFL1-related disorder +1 more	GBenign
Select item 1601015	NM_024580.6(EFL1):c.1962G>A (p.Thr654=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	EFL1-related disorder +1 more	GBenign/Likely benign
Select item 1167686	NM_024580.6(EFL1):c.1849A>G (p.Ile617Val)	EFL1 (I354V +2 more)	Single nucleotide variant (missense variant +1 more)	EFL1-related disorder +1 more	GBenign
Select item 1633633	NM_024580.6(EFL1):c.1836C>T (p.Phe612=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	EFL1-related disorder +1 more	GBenign/Likely benign
Select item 740200	NM_024580.6(EFL1):c.1747C>T (p.Leu583=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	EFL1-related disorder +1 more	GLikely benign
Select item 707937	NM_024580.6(EFL1):c.1449C>T (p.Asp483=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 747622	NM_024580.6(EFL1):c.1368A>G (p.Ala456=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	EFL1-related disorder +1 more	GLikely benign
Select item 787964	NM_024580.6(EFL1):c.1267A>G (p.Lys423Glu)	EFL1 (K372E +2 more)	Single nucleotide variant (missense variant +1 more)	EFL1-related disorder +1 more	GBenign
Select item 1561091	NM_024580.6(EFL1):c.1069+9T>C	EFL1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 734854	NM_024580.6(EFL1):c.1026C>T (p.Asn342=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	EFL1-related disorder +1 more	GBenign/Likely benign
Select item 3032531	NM_024580.6(EFL1):c.852T>C (p.Asp284=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	EFL1-related disorder	GLikely benign
Select item 1149755	NM_024580.6(EFL1):c.801G>A (p.Leu267=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1164579	NM_024580.6(EFL1):c.795A>T (p.Lys265Asn)	EFL1 (K214N +2 more)	Single nucleotide variant (missense variant +1 more)	EFL1-related disorder +1 more	GBenign
Select item 3057624	NM_024580.6(EFL1):c.525G>A (p.Ala175=)	EFL1	Single nucleotide variant (synonymous variant +2 more)	EFL1-related disorder	GLikely benign
Select item 1169034	NM_024580.6(EFL1):c.315C>T (p.Thr105=)	EFL1	Single nucleotide variant (synonymous variant +2 more)	EFL1-related disorder +1 more	GBenign/Likely benign
Select item 3048918	NM_024580.6(EFL1):c.304G>T (p.Glu102Ter)	EFL1 (E102* +1 more)	Single nucleotide variant (nonsense +2 more)	EFL1-related disorder	GUncertain significance
Select item 3061307	NM_024580.6(EFL1):c.299C>T (p.Ser100Phe)	EFL1 (S100F +1 more)	Single nucleotide variant (missense variant +2 more)	EFL1-related disorder	GUncertain significance
Select item 724363	NM_024580.6(EFL1):c.270G>C (p.Leu90=)	EFL1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign

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Items: 27