ClinVar for MedGen (Select 436629) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1104093	NM_003977.4(AIP):c.787+10G>A	AIP	Single nucleotide variant (intron variant)	Familial isolated pituitary adenoma +1 more	GConflicting classifications of pathogenicity
Select item 1023999	NM_003977.4(AIP):c.662C>T (p.Pro221Leu)	AIP (P162L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 869193	NM_002070.4(GNAI2):c.879G>A (p.Gly293=)	GNAI2	Single nucleotide variant (synonymous variant)	Familial isolated pituitary adenoma	GUncertain significance
Select item 823287	NM_003977.4(AIP):c.949G>T (p.Asp317Tyr)	AIP (D258Y +1 more)	Single nucleotide variant (missense variant +1 more)	Somatotroph adenoma +3 more	GUncertain significance
Select item 620627	NM_004304.5(ALK):c.2633-3C>T	ALK	Single nucleotide variant (intron variant)	Neuroblastoma, susceptibility to, 3 +3 more	GConflicting classifications of pathogenicity
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
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 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 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 485063	NM_003977.4(AIP):c.967C>T (p.Arg323Trp)	AIP (R323W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 485053	NM_003977.4(AIP):c.382C>T (p.Arg128Cys)	AIP (R128C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 404367	NM_004304.5(ALK):c.3115G>A (p.Val1039Met)	ALK (V1039M)	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)	Neuroblastoma, susceptibility to, 3 +3 more	GUncertain significance
Select item 335707	NM_004304.5(ALK):c.1550A>G (p.His517Arg)	ALK (H517R)	Single nucleotide variant (missense variant)	Neuroblastoma, susceptibility to, 3 +3 more	GConflicting classifications of pathogenicity
Select item 305730	NM_003977.4(AIP):c.660C>T (p.Ser220=)	AIP	Single nucleotide variant (synonymous variant)	Familial isolated pituitary adenoma	GUncertain significance
Select item 253316	NM_003977.4(AIP):c.469-17T>C	AIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253315	NM_003977.4(AIP):c.3G>A (p.Met1Ile)	AIP (M1I)	Single nucleotide variant (missense variant +1 more)	Familial isolated pituitary adenoma	GLikely pathogenic
Select item 239829	NM_004304.5(ALK):c.3837-9_3837-7dup	ALK	Duplication (intron variant)	Neuroblastoma, susceptibility to, 3 +4 more	GBenign/Likely benign
Select item 218628	NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn)	ALK (D1091N +1 more)	Single nucleotide variant (missense variant)	Familial isolated pituitary adenoma +2 more	GUncertain significance
Select item 41184	NM_003977.4(AIP):c.47G>A (p.Arg16His)	AIP (R16H)	Single nucleotide variant (missense variant)	Familial isolated pituitary adenoma +3 more	GConflicting classifications of pathogenicity

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Items: 22