"Ambry Genetics"[submitter] AND "ELF1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2542066	NM_172373.4(ELF1):c.1838T>A (p.Leu613Gln)	ELF1 (L613Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551736	NM_172373.4(ELF1):c.1836A>T (p.Glu612Asp)	ELF1 (E612D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551735	NM_172373.4(ELF1):c.1835A>C (p.Glu612Ala)	ELF1 (E553A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463982	NM_172373.4(ELF1):c.1757A>G (p.Glu586Gly)	ELF1 (E527G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342134	NM_172373.4(ELF1):c.1652C>T (p.Thr551Ile)	ELF1 (T492I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390327	NM_172373.4(ELF1):c.1649G>A (p.Gly550Asp)	ELF1 (G550D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558944	NM_172373.4(ELF1):c.1597C>T (p.Pro533Ser)	ELF1 (P509S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471581	NM_172373.4(ELF1):c.1558G>A (p.Val520Ile)	ELF1 (V461I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542247	NM_172373.4(ELF1):c.1532A>G (p.Asn511Ser)	ELF1 (N487S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367501	NM_172373.4(ELF1):c.1526C>A (p.Thr509Asn)	ELF1 (T485N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351569	NM_172373.4(ELF1):c.1297C>T (p.Pro433Ser)	ELF1 (P433S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461852	NM_172373.4(ELF1):c.1111G>A (p.Val371Met)	ELF1 (V371M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279742	NM_172373.4(ELF1):c.1106G>A (p.Arg369Lys)	ELF1 (R369K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290015	NM_172373.4(ELF1):c.1076T>G (p.Val359Gly)	ELF1 (V300G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214964	NM_172373.4(ELF1):c.1040C>T (p.Pro347Leu)	ELF1 (P288L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398278	NM_172373.4(ELF1):c.989G>A (p.Arg330Lys)	ELF1 (R306K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614205	NM_172373.4(ELF1):c.941C>T (p.Ser314Leu)	ELF1 (S255L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476085	NM_172373.4(ELF1):c.937C>T (p.Pro313Ser)	ELF1 (P289S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322039	NM_172373.4(ELF1):c.922A>G (p.Ile308Val)	ELF1 (I284V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515476	NM_172373.4(ELF1):c.891A>G (p.Ile297Met)	ELF1 (I273M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327540	NM_172373.4(ELF1):c.880A>G (p.Lys294Glu)	ELF1 (K235E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542067	NM_172373.4(ELF1):c.584C>G (p.Ser195Cys)	ELF1 (S171C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462340	NM_172373.4(ELF1):c.491C>T (p.Pro164Leu)	ELF1 (P140L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350951	NM_172373.4(ELF1):c.340A>G (p.Met114Val)	ELF1 (M114V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596036	NM_172373.4(ELF1):c.320A>G (p.Asn107Ser)	ELF1 (N107S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377981	NM_172373.4(ELF1):c.284C>T (p.Thr95Ile)	ELF1 (T36I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 26