ABL2[gene] - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 1291238	NM_007314.4(ABL2):c.*4125A>G	ABL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2608639	NM_007314.4(ABL2):c.3490C>G (p.Pro1164Ala)	ABL2 (P1025A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271172	NM_007314.4(ABL2):c.3467C>T (p.Ala1156Val)	ABL2 (A1032V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490526	NM_007314.4(ABL2):c.3289T>A (p.Ser1097Thr)	ABL2 (S1097T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471467	NM_007314.4(ABL2):c.3139C>G (p.Pro1047Ala)	ABL2 (P944A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369631	NM_007314.4(ABL2):c.3019A>G (p.Thr1007Ala)	ABL2 (T868A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610180	NM_007314.4(ABL2):c.2970G>A (p.Met990Ile)	ABL2 (M851I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391277	NM_007314.4(ABL2):c.2897T>C (p.Val966Ala)	ABL2 (V848A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770497	NM_007314.4(ABL2):c.2789A>G (p.Lys930Arg)	ABL2 (K791R +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2296196	NM_007314.4(ABL2):c.2554T>A (p.Leu852Ile)	ABL2 (L713I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551916	NM_007314.4(ABL2):c.2389A>G (p.Met797Val)	ABL2 (M782V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244328	NM_007314.4(ABL2):c.2375C>T (p.Pro792Leu)	ABL2 (P771L +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715839	NM_007314.4(ABL2):c.2350A>T (p.Thr784Ser)	ABL2 (T763S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2608169	NM_007314.4(ABL2):c.2293G>A (p.Ala765Thr)	ABL2 (A744T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386366	NM_007314.4(ABL2):c.2148G>C (p.Lys716Asn)	ABL2 (K695N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 91974	NM_007314.4(ABL2):c.2085A>G (p.Leu695=)	ABL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2317474	NM_007314.4(ABL2):c.1900A>G (p.Ser634Gly)	ABL2 (S598G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347475	NM_007314.4(ABL2):c.1864G>A (p.Ala622Thr)	ABL2 (A622T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410935	NM_007314.4(ABL2):c.1739G>A (p.Arg580Gln)	ABL2 (R565Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595334	NM_007314.4(ABL2):c.1721T>C (p.Ile574Thr)	ABL2 (I574T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378887	NM_007314.4(ABL2):c.1592C>G (p.Ser531Cys)	ABL2 (S495C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618607	NM_007314.4(ABL2):c.1582G>A (p.Asp528Asn)	ABL2 (D528N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 758688	NM_007314.4(ABL2):c.1398T>G (p.Ser466=)	ABL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1326906	NM_007314.4(ABL2):c.1348_1349insT (p.Lys450fs)	ABL2 (K414fs +3 more)	Insertion (frameshift variant)	Leukemia, acute myeloid with eosinophilia	Gnot provided
Select item 2520206	NM_007314.4(ABL2):c.1025C>G (p.Pro342Arg)	ABL2 (P306R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598236	NM_007314.4(ABL2):c.1013A>G (p.Glu338Gly)	ABL2 (E323G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521880	NM_007314.4(ABL2):c.746C>T (p.Ser249Phe)	ABL2 (S249F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317333	NM_007314.4(ABL2):c.575A>G (p.Asn192Ser)	ABL2 (N171S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521658	NM_007314.4(ABL2):c.493G>A (p.Val165Met)	ABL2 (V144M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614043	NM_007314.4(ABL2):c.307G>A (p.Gly103Arg)	ABL2 (G103R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360095	NM_007314.4(ABL2):c.232C>T (p.Arg78Cys)	ABL2 (R57C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521879	NM_007314.4(ABL2):c.43C>T (p.Gln15Ter)	ABL2 (Q15*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2568634	NM_007314.4(ABL2):c.37G>T (p.Gly13Trp)	ABL2 (G13W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303434	NM_007314.4(ABL2):c.34C>T (p.Pro12Ser)	ABL2 (P12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 565201	GRCh37/hg19 1q25.2(chr1:178892713-179557557)x3	NPHS2, ABL2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	NIBAN1, NMNAT2 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 226132	GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264)	TOR3A, TOR1AIP1 +19 more	Copy number loss	Abnormal esophagus morphology	GLikely benign

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: 61