Related gene-specific medical variations for Gene (Select 863) - ClinVar - NCBI

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

Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137954	NM_005187.6(CBFA2T3):c.923C>T (p.Pro308Leu)	CBFA2T3, LOC101927793 (P222L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137953	NM_005187.6(CBFA2T3):c.884C>T (p.Thr295Met)	CBFA2T3, LOC101927793 (T209M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137939	NM_005187.6(CBFA2T3):c.1097G>A (p.Arg366Gln)	CBFA2T3, LOC101927793 (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137938	NM_005187.6(CBFA2T3):c.1019C>T (p.Pro340Leu)	CBFA2T3, LOC101927793 (P254L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137937	NM_005187.6(CBFA2T3):c.1013C>T (p.Pro338Leu)	CBFA2T3, LOC101927793 (P338L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647019	NM_005187.6(CBFA2T3):c.151+26120G>A	CBFA2T3, LOC100129697	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2647017	NM_005187.6(CBFA2T3):c.951G>A (p.Arg317=)	CBFA2T3, LOC101927793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647016	NM_005187.6(CBFA2T3):c.977G>A (p.Arg326His)	CBFA2T3, LOC101927793 (R240H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2594447	NM_005187.6(CBFA2T3):c.1073G>A (p.Arg358His)	CBFA2T3, LOC101927793 (R358H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588752	NM_005187.6(CBFA2T3):c.871G>A (p.Gly291Ser)	CBFA2T3, LOC101927793 (G205S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2511359	NM_005187.6(CBFA2T3):c.1087C>T (p.Arg363Trp)	CBFA2T3, LOC101927793 (R363W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317767	NM_005187.6(CBFA2T3):c.1108C>T (p.Arg370Trp)	CBFA2T3, LOC101927793 (R284W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247994	NM_005187.6(CBFA2T3):c.1056C>A (p.His352Gln)	CBFA2T3, LOC101927793 (H266Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243488	NM_005187.6(CBFA2T3):c.946A>C (p.Lys316Gln)	CBFA2T3, LOC101927793 (K230Q +1 more)	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