ClinVar (all) for Orgtrack (Select 1196) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208339	NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)	CSF3R (T618I)	Single nucleotide variant (missense variant)	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency +1 more	GPathogenic/Likely pathogenic
Select item 208338	NM_022552.5(DNMT3A):c.1204C>T (p.Gln402Ter)	DNMT3A (Q213* +3 more)	Single nucleotide variant (nonsense +1 more)	Early T cell progenitor acute lymphoblastic leukemia	GPathogenic
Select item 208337	NM_017617.5(NOTCH1):c.4775T>G (p.Phe1592Cys)	NOTCH1 (F1592C)	Single nucleotide variant (missense variant)	Early T cell progenitor acute lymphoblastic leukemia	GPathogenic
Select item 191351	NM_000964.4(RARA):c.1226_*1del (p.Leu409_Ter463delinsXaa)	RARA	Deletion (stop lost)	Tretinoin response	Gdrug response
Select item 191350	NM_000964.4(RARA):c.826C>T (p.Arg276Trp)	RARA (R276W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance; drug response
Select item 13335	NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	PTPN11 (F285S +1 more)	Single nucleotide variant (missense variant)	Metachondromatosis +8 more	GPathogenic

ClinVar