CBFA2T3[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 158

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 57288	GRCh38/hg38 16q24.3(chr16:88818756-89413158)x1	ACSF3, ANKRD11 +77 more	Copy number loss	See cases	GPathogenic
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 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 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 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 3263606	NM_005187.6(CBFA2T3):c.1075C>T (p.His359Tyr)	CBFA2T3, LOC101927793 (H359Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 2647017	NM_005187.6(CBFA2T3):c.951G>A (p.Arg317=)	CBFA2T3, LOC101927793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 3338223	NR_168285.1(LOC100129697):n.977G>A	CBFA2T3, LOC100129697 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autism	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 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 3243662	NC_000016.9:g.(?_88851289)_(89383486_?)del	ACSF3, ANKRD11 +10 more	Deletion	not provided	GPathogenic
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ZNF469, ZNF778 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic

<< First< Prev

Page of 2