Related gene-specific medical variations for Gene (Select 5781) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337999	NM_002834.5(PTPN11):c.184T>C (p.Tyr62His)	PTPN11 (Y61H +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely pathogenic
Select item 3244346	NC_000012.11:g.(?_112910728)_(113008334_?)dup	PTPN11	Duplication	RASopathy	GUncertain significance
Select item 3244345	NC_000012.11:g.(?_112856916)_(112856949_?)dup	PTPN11	Duplication	RASopathy	GUncertain significance
Select item 3244344	NC_000012.11:g.(?_112856916)_(112856949_?)del	PTPN11	Deletion	RASopathy	GPathogenic
Select item 3242355	NM_002834.5(PTPN11):c.1420A>G (p.Ile474Val)	PTPN11 (I473V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GLikely benign
Select item 2689841	NM_002834.5(PTPN11):c.1165A>C (p.Lys389Gln)	PTPN11 (K388Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582571	NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)	PTPN11 (F70L +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +2 more	GLikely pathogenic
Select item 2579162	NM_002834.5(PTPN11):c.1095T>A (p.Ser365Arg)	PTPN11 (S364R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1	GUncertain significance
Select item 2435283	NM_002834.5(PTPN11):c.521G>A (p.Cys174Tyr)	PTPN11 (C173Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931758	NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys)	PTPN11 (Y584C +2 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1	GUncertain significance
Select item 636408	NM_002834.5(PTPN11):c.853T>A (p.Phe285Ile)	PTPN11 (F285I +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 522720	NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser)	PTPN11 (N320S +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely pathogenic
Select item 488168	NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala)	PTPN11 (G158A +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +2 more	GUncertain significance
Select item 376511	NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp)	PTPN11 (A72D +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +3 more	GLikely pathogenic
Select item 258815	NM_002834.5(PTPN11):c.1448-38G>C	PTPN11	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 180176	NM_002834.3:c.1-140delG	PTPN11	Deletion	Noonan syndrome	GBenign