"Ambry Genetics"[submitter] AND "EMX2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2238212	NM_004098.4(EMX2):c.14C>G (p.Ala5Gly)	EMX2, EMX2OS (A5G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088789	NM_004098.4(EMX2):c.101C>T (p.Ala34Val)	EMX2, EMX2OS (A34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266545	NM_004098.4(EMX2):c.121T>G (p.Ser41Ala)	EMX2, EMX2OS (S41A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 290406	NM_004098.4(EMX2):c.161CCG[7] (p.Ala59dup)	EMX2, EMX2OS	Microsatellite (inframe_insertion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2541836	NM_004098.4(EMX2):c.238A>G (p.Asn80Asp)	EMX2, EMX2OS (N80D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088790	NM_004098.4(EMX2):c.311C>T (p.Ser104Leu)	EMX2, EMX2OS (S104L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379733	NM_004098.4(EMX2):c.428G>A (p.Ser143Asn)	EMX2 (S143N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483342	NM_004098.4(EMX2):c.515C>A (p.Ala172Asp)	EMX2 (A172D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3088791	NM_004098.4(EMX2):c.594A>G (p.Val198=)	EMX2 (K137E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2557719	NM_004098.4(EMX2):c.621A>C (p.Thr207=)	EMX2 (K146Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2619841	NM_004098.4(EMX2):c.656C>T (p.Ser219Leu)	EMX2 (S219L)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233653	NM_004098.4(EMX2):c.668A>T (p.Gln223Leu)	EMX2 (Q223L)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411782	NM_004098.4(EMX2):c.725G>A (p.Ser242Asn)	EMX2 (S242N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign