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

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133477	NM_004304.5(ALK):c.4796C>A (p.Pro1599His)	ALK (P1599H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 133476	NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu)	ALK (D1529E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 133475	NM_004304.5(ALK):c.4573A>G (p.Lys1525Glu)	ALK (K1525E +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GBenign
Select item 133474	NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg)	ALK (K1491R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 133473	NM_004304.5(ALK):c.4416A>T (p.Glu1472Asp)	ALK (E1472D +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 133472	NM_004304.5(ALK):c.4381A>G (p.Ile1461Val)	ALK (I1461V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 133471	NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del)	ALK (E1435del +1 more)	Microsatellite (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 133479	NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys)	ALK (E1419K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 133478	NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr)	ALK (A1396T +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 133470	NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln)	ALK (R1061Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Neuroblastoma, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 133468	NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr)	ALK (A1047T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 133467	NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu)	ALK (P1027L)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 133465	NM_004304.5(ALK):c.3035C>T (p.Thr1012Met)	ALK (T1012M)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +2 more	GBenign/Likely benign
Select item 133466	NM_004304.5(ALK):c.3031G>A (p.Gly1011Arg)	ALK (G1011R)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 133464	NM_004304.5(ALK):c.2577G>C (p.Glu859Asp)	ALK (E859D)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 133463	NM_004304.5(ALK):c.2127C>A (p.Asn709Lys)	ALK (N709K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 133462	NM_004304.5(ALK):c.2039C>T (p.Thr680Ile)	ALK (T680I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 133461	NM_004304.5(ALK):c.1943C>T (p.Thr648Ile)	ALK (T648I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 133485	NM_004304.5(ALK):c.1427T>C (p.Val476Ala)	ALK (V476A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 133484	NM_004304.5(ALK):c.1215A>T (p.Glu405Asp)	ALK (E405D)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GLikely benign
Select item 133483	NM_004304.5(ALK):c.1111G>A (p.Ala371Thr)	ALK (A371T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 133482	NM_004304.5(ALK):c.1100C>G (p.Pro367Arg)	ALK (P367R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 133480	NM_004304.5(ALK):c.932G>A (p.Arg311His)	ALK (R311H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 133481	NM_004304.5(ALK):c.808T>C (p.Phe270Leu)	ALK (F270L)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 133469	NM_004304.5(ALK):c.776G>A (p.Arg259His)	ALK (R259H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 133460	NM_004304.5(ALK):c.592G>A (p.Val198Met)	ALK (V198M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 133458	NM_004304.5(ALK):c.522C>A (p.Phe174Leu)	ALK (F174L)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +3 more	GUncertain significance
Select item 133459	NM_004304.5(ALK):c.487G>T (p.Val163Leu)	ALK (V163L)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +2 more	GBenign/Likely benign
Select item 133457	NM_004304.5(ALK):c.106C>T (p.Pro36Ser)	ALK (P36S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign

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Items: 29