"Ambry Genetics"[submitter] AND "ELF5"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2328150	NM_001422.4(ELF5):c.758A>G (p.Asp253Gly)	ELF5 (D253G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238551	NM_001422.4(ELF5):c.718G>A (p.Val240Met)	ELF5 (V240M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555486	NM_001422.4(ELF5):c.593C>T (p.Ser198Leu)	ELF5 (S208L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305150	NM_001422.4(ELF5):c.574A>C (p.Ile192Leu)	ELF5 (I202L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088249	NM_001422.4(ELF5):c.559G>A (p.Asp187Asn)	ELF5 (D119N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275131	NM_001422.4(ELF5):c.473C>A (p.Thr158Lys)	ELF5 (T158K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532697	NM_001422.4(ELF5):c.413A>T (p.Asp138Val)	ELF5 (D148V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520646	NM_001422.4(ELF5):c.347G>A (p.Arg116His)	ELF5 (R126H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463094	NM_001422.4(ELF5):c.347G>T (p.Arg116Leu)	ELF5 (R126L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317590	NM_001422.4(ELF5):c.346C>T (p.Arg116Cys)	ELF5 (R116C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622805	NM_001422.4(ELF5):c.298G>T (p.Ala100Ser)	ELF5 (A100S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397570	NM_001422.4(ELF5):c.268T>G (p.Cys90Gly)	ELF5 (C100G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238550	NM_001422.4(ELF5):c.225T>A (p.Asn75Lys)	ELF5 (N75K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536107	NM_001422.4(ELF5):c.215T>G (p.Leu72Trp)	ELF5 (L72W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088248	NM_001422.4(ELF5):c.180G>T (p.Trp60Cys)	ELF5 (W70C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327889	NM_001422.4(ELF5):c.106T>G (p.Phe36Val)	ELF5 (F36V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532909	NM_001422.4(ELF5):c.52G>A (p.Asp18Asn)	ELF5 (D18N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275130	NM_001422.4(ELF5):c.35C>G (p.Pro12Arg)	ELF5 (P12R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247906	NM_001422.4(ELF5):c.34C>T (p.Pro12Ser)	ELF5 (P22S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485220	NM_001422.4(ELF5):c.14T>A (p.Val5Glu)	ELF5 (V5E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20