C0349639[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 177881	NM_004985.5(KRAS):c.183A>C (p.Gln61His)	KRAS (Q61H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity STier II - Potential OOncogenic
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 13326	NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	PTPN11 (N308D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40562	NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	PTPN11 (M504V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +8 more	GPathogenic
Select item 812898	NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs)	NF1 (V728fs)	Indel (frameshift variant)	Neurofibroma +1 more	GLikely pathogenic
Select item 663010	NM_001042492.3(NF1):c.2970_2971del (p.Met991fs)	NF1 (M991fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 812900	NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs)	ASXL1 (E635fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar