CBFA2T3[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2590174	NM_005187.6(CBFA2T3):c.1958G>A (p.Arg653His)	CBFA2T3 (R567H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559190	NM_005187.6(CBFA2T3):c.1934C>G (p.Pro645Arg)	CBFA2T3 (P559R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137951	NM_005187.6(CBFA2T3):c.1913G>A (p.Arg638His)	CBFA2T3 (R638H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308236	NM_005187.6(CBFA2T3):c.1913G>T (p.Arg638Leu)	CBFA2T3 (R638L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137950	NM_005187.6(CBFA2T3):c.1912C>T (p.Arg638Cys)	CBFA2T3 (R552C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137949	NM_005187.6(CBFA2T3):c.1834G>A (p.Glu612Lys)	CBFA2T3 (E526K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137948	NM_005187.6(CBFA2T3):c.1816C>T (p.Pro606Ser)	CBFA2T3 (P606S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354737	NM_005187.6(CBFA2T3):c.1813G>A (p.Asp605Asn)	CBFA2T3 (D519N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263223	NM_005187.6(CBFA2T3):c.1795C>T (p.Pro599Ser)	CBFA2T3 (P513S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263608	NM_005187.6(CBFA2T3):c.1607G>A (p.Arg536Gln)	CBFA2T3 (R536Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716461	NM_005187.6(CBFA2T3):c.1602G>A (p.Ala534=)	CBFA2T3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3137947	NM_005187.6(CBFA2T3):c.1565C>T (p.Thr522Met)	CBFA2T3 (T436M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263616	NM_005187.6(CBFA2T3):c.1517A>T (p.Gln506Leu)	CBFA2T3 (Q506L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137946	NM_005187.6(CBFA2T3):c.1496G>A (p.Arg499Gln)	CBFA2T3 (R413Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137945	NM_005187.6(CBFA2T3):c.1411C>T (p.Arg471Cys)	CBFA2T3 (R471C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263610	NM_005187.6(CBFA2T3):c.1378G>C (p.Ala460Pro)	CBFA2T3 (A460P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137944	NM_005187.6(CBFA2T3):c.1378G>A (p.Ala460Thr)	CBFA2T3 (A374T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137943	NM_005187.6(CBFA2T3):c.1370G>A (p.Ser457Asn)	CBFA2T3 (S457N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2228013	NM_005187.6(CBFA2T3):c.1367G>A (p.Arg456His)	CBFA2T3 (R370H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137942	NM_005187.6(CBFA2T3):c.1354G>A (p.Ala452Thr)	CBFA2T3 (A452T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2513047	NM_005187.6(CBFA2T3):c.1351G>A (p.Ala451Thr)	CBFA2T3 (A451T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517254	NM_005187.6(CBFA2T3):c.1345G>A (p.Ala449Thr)	CBFA2T3 (A363T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713642	NM_005187.6(CBFA2T3):c.1321G>A (p.Ala441Thr)	CBFA2T3 (A355T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3263612	NM_005187.6(CBFA2T3):c.1319A>C (p.Asp440Ala)	CBFA2T3 (D354A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360873	NM_005187.6(CBFA2T3):c.1310G>A (p.Arg437His)	CBFA2T3 (R437H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137941	NM_005187.6(CBFA2T3):c.1307G>A (p.Arg436Gln)	CBFA2T3 (R350Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137940	NM_005187.6(CBFA2T3):c.1306C>T (p.Arg436Trp)	CBFA2T3 (R436W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213680	NM_005187.6(CBFA2T3):c.1241G>A (p.Arg414Gln)	CBFA2T3 (R328Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263609	NM_005187.6(CBFA2T3):c.1240C>T (p.Arg414Trp)	CBFA2T3 (R328W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513298	NM_005187.6(CBFA2T3):c.1168C>T (p.Arg390Cys)	CBFA2T3 (R390C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508384	NM_005187.6(CBFA2T3):c.1133G>A (p.Arg378Gln)	CBFA2T3 (R292Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520385	NM_005187.6(CBFA2T3):c.1130C>T (p.Ser377Phe)	CBFA2T3 (S377F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554993	NM_005187.6(CBFA2T3):c.599G>A (p.Arg200His)	CBFA2T3 (R114H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496140	NM_005187.6(CBFA2T3):c.592C>T (p.Arg198Cys)	CBFA2T3 (R112C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258279	NM_005187.6(CBFA2T3):c.553C>A (p.Gln185Lys)	CBFA2T3 (Q185K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550792	NM_005187.6(CBFA2T3):c.508G>A (p.Gly170Arg)	CBFA2T3 (G170R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276124	NM_005187.6(CBFA2T3):c.454C>T (p.Pro152Ser)	CBFA2T3 (P152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360704	NM_005187.6(CBFA2T3):c.439G>A (p.Gly147Ser)	CBFA2T3 (G147S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137952	NM_005187.6(CBFA2T3):c.419G>A (p.Gly140Asp)	CBFA2T3 (G54D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346435	NM_005187.6(CBFA2T3):c.394A>G (p.Ser132Gly)	CBFA2T3 (S132G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535843	NM_005187.6(CBFA2T3):c.353G>A (p.Cys118Tyr)	CBFA2T3 (C118Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263614	NM_005187.6(CBFA2T3):c.319C>A (p.Pro107Thr)	CBFA2T3 (P107T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251707	NM_005187.6(CBFA2T3):c.308G>A (p.Arg103Gln)	CBFA2T3 (R103Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263611	NM_005187.6(CBFA2T3):c.283C>A (p.Pro95Thr)	CBFA2T3 (P95T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647018	NM_005187.6(CBFA2T3):c.252G>A (p.Pro84=)	CBFA2T3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588950	NM_005187.6(CBFA2T3):c.251C>T (p.Pro84Leu)	CBFA2T3 (P23L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229446	NM_005187.6(CBFA2T3):c.232C>A (p.Pro78Thr)	CBFA2T3 (P78T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553080	NM_005187.6(CBFA2T3):c.200C>G (p.Ala67Gly)	CBFA2T3 (A67G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263615	NM_005187.6(CBFA2T3):c.154C>T (p.Pro52Ser)	CBFA2T3 (P52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263605	NM_005187.6(CBFA2T3):c.119C>G (p.Ser40Cys)	CBFA2T3 (S40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263613	NM_005187.6(CBFA2T3):c.94G>C (p.Gly32Arg)	CBFA2T3 (G32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216353	NM_005187.6(CBFA2T3):c.11C>T (p.Ser4Leu)	CBFA2T3 (S4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 998058	t(16;16)(p13.3;q24.3)	CBFA2T3	Translocation	Acute megakaryoblastic leukemia without down syndrome	GPathogenic
Select item 998057	inv(16)(p13.3q24.3)	CBFA2T3	Inversion	Acute megakaryoblastic leukemia without down syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 54