Related gene-specific medical variations for Gene (Select 25) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062320	NM_005157.6(ABL1):c.1088A>C (p.Asp363Ala)	ABL1 (D363A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GLikely pathogenic
Select item 3009681	NM_007313.3(ABL1):c.57C>T (p.Ala19=)	ABL1, LOC107980440	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986539	NM_005157.6(ABL1):c.80-14C>G	ABL1, LOC107980440	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982896	NM_005157.6(ABL1):c.80-14C>T	ABL1, LOC107980440	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973868	NM_007313.3(ABL1):c.105G>A (p.Gly35=)	ABL1, LOC107980440	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968483	NM_007313.3(ABL1):c.136+13C>T	ABL1, LOC107980440	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920678	NM_005157.6(ABL1):c.2170dup (p.His724fs)	ABL1 (H743fs +1 more)	Duplication (frameshift variant)	Developmental disorder	GUncertain significance
Select item 2906897	NM_005157.6(ABL1):c.136G>A (p.Ala46Thr)	ABL1, LOC107980440 (A65T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803470	NM_007313.3(ABL1):c.38G>A (p.Arg13Lys)	ABL1, LOC107980440 (R13K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690825	NM_005157.6(ABL1):c.2799A>C (p.Lys933Asn)	ABL1 (K933N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441840	NM_005157.6(ABL1):c.875A>T (p.Glu292Val)	ABL1 (E292V +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GLikely pathogenic
Select item 2438794	NM_005157.6(ABL1):c.2417C>T (p.Pro806Leu)	ABL1 (P806L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438793	NM_005157.6(ABL1):c.3250C>T (p.Arg1084Ter)	ABL1 (R1084* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2438792	NM_005157.6(ABL1):c.826del (p.Asp276fs)	ABL1 (D276fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2415365	NM_005157.6(ABL1):c.80-2A>G	ABL1, LOC107980440	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2189970	NM_007313.3(ABL1):c.20A>G (p.Lys7Arg)	ABL1, LOC107980440 (K7R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2185407	NM_007313.3(ABL1):c.108T>A (p.Gly36=)	ABL1, LOC107980440	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142206	NM_007313.3(ABL1):c.16G>A (p.Gly6Arg)	ABL1, LOC107980440 (G6R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2116585	NM_007313.3(ABL1):c.29G>A (p.Gly10Glu)	ABL1, LOC107980440 (G10E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981501	NM_005157.6(ABL1):c.140G>A (p.Arg47His)	ABL1, LOC107980440 (R47H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1955268	NM_005157.6(ABL1):c.80-12T>C	ABL1, LOC107980440	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947160	NM_007313.3(ABL1):c.136+19T>G	ABL1, LOC107980440	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921933	NM_007313.3(ABL1):c.136+13C>A	ABL1, LOC107980440	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897122	NM_007313.3(ABL1):c.26T>C (p.Leu9Pro)	ABL1, LOC107980440 (L9P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1803717	NM_005157.6(ABL1):c.882A>T (p.Lys294Asn)	ABL1 (K294N +1 more)	Single nucleotide variant (missense variant)	ABL1-related congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 1699204	NM_005157.6(ABL1):c.143G>C (p.Trp48Ser)	ABL1, LOC107980440 (W48S +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GLikely pathogenic
Select item 1663625	NM_005157.6(ABL1):c.135C>T (p.Ala45=)	ABL1, LOC107980440	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1593111	NM_005157.6(ABL1):c.80-17C>G	ABL1, LOC107980440	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1589007	NM_005157.6(ABL1):c.92G>A (p.Arg31Gln)	ABL1, LOC107980440 (R31Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1469549	NM_005157.6(ABL1):c.109T>G (p.Phe37Val)	ABL1, LOC107980440 (F56V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320952	NM_005157.6(ABL1):c.116C>G (p.Pro39Arg)	ABL1, LOC107980440 (P39R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931707	NM_005157.6(ABL1):c.3203T>C (p.Val1068Ala)	ABL1 (V1087A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 930904	NM_005157.6(ABL1):c.2534del (p.Pro845fs)	ABL1 (P845fs +1 more)	Deletion (frameshift variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 636618	NM_005157.6(ABL1):c.1877G>A (p.Gly626Asp)	ABL1 (G626D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 617566	Single allele	ABL1	Translocation	T-cell acute lymphoblastic leukemia	GPathogenic
Select item 563569	GRCh37/hg19 9q34.12(chr9:133628752-133696938)x1	ABL1	Copy number loss	not provided	GUncertain significance
Select item 376352	NM_005157.6(ABL1):c.949T>C (p.Phe317Leu)	ABL1 (F317L +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	Gnot provided
Select item 376124	NM_005157.6(ABL1):c.1076T>G (p.Phe359Cys)	ABL1 (F359C +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376123	NM_005157.6(ABL1):c.1075T>C (p.Phe359Leu)	ABL1 (F359L +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376122	NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile)	ABL1 (F359I +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376121	NM_005157.6(ABL1):c.950T>G (p.Phe317Cys)	ABL1 (F317C +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376120	NM_005157.6(ABL1):c.949T>G (p.Phe317Val)	ABL1 (F317V +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376119	NM_005157.6(ABL1):c.949T>A (p.Phe317Ile)	ABL1 (F317I +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376118	NM_005157.6(ABL1):c.943A>G (p.Thr315Ala)	ABL1 (T315A +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376117	NM_005157.6(ABL1):c.895G>C (p.Val299Leu)	ABL1 (V299L +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376097	NM_005157.6(ABL1):c.1187A>G (p.His396Arg)	ABL1 (H396R +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive +1 more	GPathogenic/Likely pathogenic
Select item 376096	NM_005157.6(ABL1):c.1075T>G (p.Phe359Val)	ABL1 (F359V +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376095	NM_005157.6(ABL1):c.1064A>G (p.Glu355Gly)	ABL1 (E355G +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376094	NM_005157.6(ABL1):c.951C>G (p.Phe317Leu)	ABL1 (F317L +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376093	NM_005157.6(ABL1):c.951C>A (p.Phe317Leu)	ABL1 (F317L +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376092	NM_005157.6(ABL1):c.847T>G (p.Phe283Val)	ABL1 (F283V +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376091	NM_005157.6(ABL1):c.764A>T (p.Glu255Val)	ABL1 (E255V +1 more)	Single nucleotide variant (missense variant)	Lip and oral cavity carcinoma +1 more	GPathogenic/Likely pathogenic
Select item 376090	NM_005157.6(ABL1):c.763G>A (p.Glu255Lys)	ABL1 (E255K +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376089	NM_005157.6(ABL1):c.758A>T (p.Tyr253Phe)	ABL1 (Y253F +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376088	NM_005157.6(ABL1):c.756G>T (p.Gln252His)	ABL1 (Q252H +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376087	NM_005157.6(ABL1):c.756G>C (p.Gln252His)	ABL1 (Q252H +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376086	NM_005157.6(ABL1):c.749G>A (p.Gly250Glu)	ABL1 (G250E +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376085	NM_005157.6(ABL1):c.742C>G (p.Leu248Val)	ABL1 (L248V +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 376084	NM_005157.6(ABL1):c.730A>G (p.Met244Val)	ABL1 (M244V +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	GLikely pathogenic
Select item 133452	NM_005157.6(ABL1):c.1417C>G (p.Arg473Gly)	ABL1 (R473G +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133451	NM_005157.6(ABL1):c.808G>T (p.Val270Leu)	ABL1 (V270L +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 133448	NM_005157.6(ABL1):c.128G>A (p.Ser43Asn)	ABL1, LOC107980440 (S43N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 133436	NM_005157.6(ABL1):c.1736C>T (p.Pro579Leu)	ABL1 (P579L +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Links from Gene

Items: 63