"St. Jude Molecular Pathology, St. Jude Children's Research Hospital"[ - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 404336	NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)	ALK (P1599S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 960596	NM_004304.5(ALK):c.4442C>T (p.Ser1481Phe)	ALK (S1481F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1041110	NM_004304.5(ALK):c.4306C>T (p.Arg1436Cys)	ALK (R368C +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 470867	NM_004304.5(ALK):c.4210C>G (p.Leu1404Val)	ALK (L1404V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 239829	NM_004304.5(ALK):c.3837-9_3837-7dup	ALK	Duplication (intron variant)	Familial isolated pituitary adenoma +4 more	GBenign/Likely benign
Select item 823658	NM_004304.5(ALK):c.3359+4A>G	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 218628	NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn)	ALK (D1091N +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +2 more	GUncertain significance
Select item 404335	NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser)	ALK (G1054S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 404367	NM_004304.5(ALK):c.3115G>A (p.Val1039Met)	ALK (V1039M)	Single nucleotide variant (missense variant)	Familial isolated pituitary adenoma +2 more	GUncertain significance
Select item 133466	NM_004304.5(ALK):c.3031G>A (p.Gly1011Arg)	ALK (G1011R)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 620627	NM_004304.5(ALK):c.2633-3C>T	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 961165	NM_004304.5(ALK):c.2302G>A (p.Asp768Asn)	ALK (D768N)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 576618	NM_004304.5(ALK):c.2194G>A (p.Asp732Asn)	ALK (D732N)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 538226	NM_004304.5(ALK):c.1875T>G (p.Phe625Leu)	ALK (F625L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 580080	NM_004304.5(ALK):c.1582G>A (p.Ala528Thr)	ALK (A528T)	Single nucleotide variant (missense variant)	Familial isolated pituitary adenoma +1 more	GUncertain significance
Select item 335707	NM_004304.5(ALK):c.1550A>G (p.His517Arg)	ALK (H517R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 538198	NM_004304.5(ALK):c.1517T>C (p.Leu506Pro)	ALK (L506P)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 404393	NM_004304.5(ALK):c.1390G>A (p.Gly464Arg)	ALK (G464R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 470745	NM_004304.5(ALK):c.1283-5T>C	ALK	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 470743	NM_004304.5(ALK):c.1193A>G (p.Asn398Ser)	ALK (N398S)	Single nucleotide variant (missense variant)	Familial isolated pituitary adenoma +1 more	GUncertain significance
Select item 470740	NM_004304.5(ALK):c.1184G>A (p.Arg395His)	ALK (R395H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 538201	NM_004304.5(ALK):c.1148A>T (p.Lys383Met)	ALK (K383M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 133482	NM_004304.5(ALK):c.1100C>G (p.Pro367Arg)	ALK (P367R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 470896	NM_004304.5(ALK):c.699G>A (p.Met233Ile)	ALK (M233I)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3	GUncertain significance
Select item 570092	NM_004304.5(ALK):c.470C>T (p.Pro157Leu)	ALK (P157L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1692787	NM_004304.5(ALK):c.448A>C (p.Ile150Leu)	ALK (I150L)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +1 more	GUncertain significance
Select item 470832	NM_004304.5(ALK):c.350C>G (p.Pro117Arg)	ALK (P117R)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +2 more	GUncertain significance
Select item 470813	NM_004304.5(ALK):c.298A>G (p.Arg100Gly)	ALK (R100G)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +2 more	GUncertain significance
Select item 620599	NM_004304.5(ALK):c.164C>A (p.Ala55Glu)	ALK (A55E)	Single nucleotide variant (missense variant)	Familial isolated pituitary adenoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29