ClinVar for MedGen (Select 44124) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 590282	t(11;17)(q23;q25)	SEPTIN9, KMT2A	Translocation	Acute megakaryoblastic leukemia	GPathogenic
Select item 376116	NM_000215.4(JAK3):c.260T>C (p.Ile87Thr)	JAK3 (I87T)	Single nucleotide variant (missense variant)	Leukemoid reaction +1 more	GLikely pathogenic
Select item 376115	NM_000215.4(JAK3):c.1503G>C (p.Gln501His)	JAK3 (Q501H)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia	GLikely pathogenic
Select item 376114	NM_000215.4(JAK3):c.1503G>T (p.Gln501His)	JAK3 (Q501H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 376113	NM_000215.4(JAK3):c.1970G>A (p.Arg657Gln)	JAK3 (R657Q)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 376037	NM_000215.4(JAK3):c.1715C>T (p.Ala572Val)	JAK3 (A572V)	Single nucleotide variant (missense variant)	Myeloproliferative neoplasm +1 more	GLikely pathogenic
Select item 218347	NM_001346413.3(PCF11):c.3618del (p.Phe1206fs)	PCF11 (F1075fs +1 more)	Deletion (frameshift variant)	Acute megakaryoblastic leukemia +1 more	GUncertain significance
Select item 218346	NM_001099.5(ACP3):c.849CAT[1] (p.Ile284del)	ACP3 (I251del +1 more)	Microsatellite (inframe_deletion)	Acute megakaryoblastic leukemia +1 more	GUncertain significance
Select item 218345	NM_003048.6(SLC9A2):c.2173del (p.Gln725fs)	SLC9A2 (Q725fs)	Deletion (frameshift variant)	Acute megakaryoblastic leukemia +1 more	GUncertain significance
Select item 218344	NC_012920.1:m.14372C>A	MT-ND6	Single nucleotide variant	Acute megakaryoblastic leukemia +1 more	GUncertain significance
Select item 218343	NM_022904.3(RASAL3):c.-5C>G	RASAL3	Single nucleotide variant (5 prime UTR variant)	Acute megakaryoblastic leukemia +1 more	GUncertain significance
Select item 218342	NM_000546.6(TP53):c.636del (p.Arg213fs)	TP53 (R213fs +3 more)	Deletion (frameshift variant)	Li-Fraumeni syndrome 1	GPathogenic FDA Recognized database
Select item 218341	NM_024535.5(CORO7):c.2772+50C>T	CORO7, CORO7-PAM16	Single nucleotide variant (intron variant)	Acute megakaryoblastic leukemia +1 more	GUncertain significance
Select item 218340	NM_153487.4(MDGA1):c.2674T>G (p.Phe892Val)	MDGA1 (F892V)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia +1 more	GUncertain significance
Select item 183726	NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)	PTEN (C136R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 134580	NM_000215.4(JAK3):c.394C>A (p.Pro132Thr)	JAK3 (P132T)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign FDA Recognized database
Select item 134573	NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)	JAK3 (V722I)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign FDA Recognized database
Select item 10429	NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)	GATA1 (A59fs)	Duplication (frameshift variant)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +1 more	GPathogenic