ClinVar for Gene (Select 27) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 2568634	NM_007314.4(ABL2):c.37G>T (p.Gly13Trp)	ABL2 (G13W)	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 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 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 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 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 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 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 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 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 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 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 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 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 2303434	NM_007314.4(ABL2):c.34C>T (p.Pro12Ser)	ABL2 (P12S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 1291238	NM_007314.4(ABL2):c.*4125A>G	ABL2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 770497	NM_007314.4(ABL2):c.2789A>G (p.Lys930Arg)	ABL2 (K791R +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 758688	NM_007314.4(ABL2):c.1398T>G (p.Ser466=)	ABL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 521879	NM_007314.4(ABL2):c.43C>T (p.Gln15Ter)	ABL2 (Q15*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	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
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 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	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 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
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 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	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 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 64