"ITMI"[submitter] AND "ECT2L"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134001	NM_001077706.3(ECT2L):c.12C>A (p.Phe4Leu)	ECT2L (F4L)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134005	NM_001077706.3(ECT2L):c.145G>A (p.Ala49Thr)	ECT2L (A49T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134006	NM_001077706.3(ECT2L):c.272C>T (p.Ser91Phe)	ECT2L (S91F)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134008	NM_001077706.3(ECT2L):c.437T>C (p.Ile146Thr)	ECT2L (I146T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134007	NM_001077706.3(ECT2L):c.452A>G (p.His151Arg)	ECT2L (H151R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134010	NM_001077706.3(ECT2L):c.614G>A (p.Arg205Gln)	ECT2L (R205Q)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134011	NM_001077706.3(ECT2L):c.649G>A (p.Val217Met)	ECT2L (V217M)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134009	NM_001077706.3(ECT2L):c.713A>C (p.Glu238Ala)	ECT2L (E238A)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134012	NM_001077706.3(ECT2L):c.839A>G (p.Asp280Gly)	ECT2L (D280G)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134014	NM_001077706.3(ECT2L):c.910A>G (p.Met304Val)	ECT2L (M304V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134013	NM_001077706.3(ECT2L):c.958_959inv (p.Val320Thr)	ECT2L (V320T)	Inversion (missense variant)	not specified	Gnot provided
Select item 134015	NM_001077706.3(ECT2L):c.1051G>A (p.Glu351Lys)	ECT2L (E351K)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135514	NM_001077706.3(ECT2L):c.1070-1G>C	ECT2L	Single nucleotide variant (splice acceptor variant)	not specified	Gnot provided
Select item 134016	NM_001077706.3(ECT2L):c.1135A>T (p.Ser379Cys)	ECT2L (S379C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134017	NM_001077706.3(ECT2L):c.1145C>A (p.Ala382Asp)	ECT2L (A382D)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133987	NM_001077706.3(ECT2L):c.1318T>G (p.Trp440Gly)	ECT2L (W440G)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133988	NM_001077706.3(ECT2L):c.1510A>G (p.Ile504Val)	ECT2L (I504V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133989	NM_001077706.3(ECT2L):c.1532C>T (p.Ala511Val)	ECT2L (A511V)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135515	NM_001077706.3(ECT2L):c.1579-1G>C	ECT2L	Single nucleotide variant (splice acceptor variant)	not specified	Gnot provided
Select item 133990	NM_001077706.3(ECT2L):c.1579G>A (p.Glu527Lys)	ECT2L (E527K)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133991	NM_001077706.3(ECT2L):c.1672_1674dup (p.Ile558dup)	ECT2L	Duplication (inframe_insertion)	not specified	Gnot provided
Select item 133992	NM_001077706.3(ECT2L):c.1672A>C (p.Ile558Leu)	ECT2L (I558L)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133996	NM_001077706.3(ECT2L):c.1709T>C (p.Val570Ala)	ECT2L (V570A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 133993	NM_001077706.3(ECT2L):c.1739A>G (p.Lys580Arg)	ECT2L (K580R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133995	NM_001077706.3(ECT2L):c.1780G>A (p.Ala594Thr)	ECT2L (A594T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133994	NM_001077706.3(ECT2L):c.1802C>T (p.Ser601Leu)	ECT2L (S601L)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133997	NM_001077706.3(ECT2L):c.2028+1_2028+9del	ECT2L, LOC129997295	Deletion (splice donor variant)	not specified	Gnot provided
Select item 133998	NM_001077706.3(ECT2L):c.2180C>T (p.Thr727Ile)	ECT2L (T727I)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133999	NM_001077706.3(ECT2L):c.2191C>T (p.His731Tyr)	ECT2L (H731Y)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134000	NM_001077706.3(ECT2L):c.2227C>T (p.Gln743Ter)	ECT2L (Q743*)	Single nucleotide variant (nonsense)	not specified	Gnot provided
Select item 134002	NM_001077706.3(ECT2L):c.2479C>T (p.Arg827Trp)	ECT2L (R827W)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134003	NM_001077706.3(ECT2L):c.2555G>A (p.Arg852Gln)	ECT2L (R852Q)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134004	NM_001077706.3(ECT2L):c.2615G>A (p.Gly872Asp)	ECT2L (G872D)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Items: 33