ClinVar for Gene (Select 25) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376403	NM_005157.6(ABL1):c.344A>G (p.Tyr115Cys)	ABL1 (Y115C +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 3376063	NM_005157.6(ABL1):c.1880_1899del (p.Gln627fs)	ABL1 (Q627fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3372834	NM_005157.6(ABL1):c.455G>A (p.Arg152His)	ABL1 (R152H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372757	NM_005157.6(ABL1):c.1329T>G (p.Ile443Met)	ABL1 (I443M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372470	NM_005157.6(ABL1):c.2586del (p.Gly864fs)	ABL1 (G864fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3372424	NM_005157.6(ABL1):c.1760A>C (p.Asp587Ala)	ABL1 (D587A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370019	NM_005157.6(ABL1):c.1244A>C (p.Lys415Thr)	ABL1 (K415T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368744	NM_005157.6(ABL1):c.924_964del (p.Phe311fs)	ABL1 (F311fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3367569	NM_005157.6(ABL1):c.2636del (p.Lys879fs)	ABL1 (K879fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3366653	NM_005157.6(ABL1):c.3053C>T (p.Pro1018Leu)	ABL1 (P1018L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366588	NM_005157.6(ABL1):c.375C>A (p.His125Gln)	ABL1 (H125Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3360327	NM_005157.6(ABL1):c.1096G>T (p.Ala366Ser)	ABL1 (A366S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360147	NM_005157.6(ABL1):c.1525_1526delinsTT (p.Glu509Leu)	ABL1 (E509L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3353151	NM_005157.6(ABL1):c.1814AGA[4] (p.Lys609del)	ABL1 (K609del +1 more)	Microsatellite (inframe_deletion)	ABL1-related disorder	GUncertain significance
Select item 3352775	NM_005157.6(ABL1):c.2291G>A (p.Arg764Gln)	ABL1 (R764Q +1 more)	Single nucleotide variant (missense variant)	ABL1-related disorder	GUncertain significance
Select item 3344188	NM_005157.6(ABL1):c.172C>T (p.Pro58Ser)	ABL1 (P58S +1 more)	Single nucleotide variant (missense variant)	ABL1-related disorder	GUncertain significance
Select item 3340737	NM_005157.6(ABL1):c.1025A>G (p.Tyr342Cys)	ABL1 (Y342C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337778	NM_005157.6(ABL1):c.3047G>T (p.Arg1016Leu)	ABL1 (R1016L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337777	NM_005157.6(ABL1):c.1848A>C (p.Lys616Asn)	ABL1 (K616N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3325366	NM_005157.6(ABL1):c.268G>A (p.Val90Ile)	ABL1 (V109I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325272	NM_005157.6(ABL1):c.2933C>G (p.Pro978Arg)	ABL1 (P997R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325194	NM_005157.6(ABL1):c.1918G>A (p.Asp640Asn)	ABL1 (D659N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325097	NM_005157.6(ABL1):c.1000G>A (p.Glu334Lys)	ABL1 (E353K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325019	NM_005157.6(ABL1):c.1813A>G (p.Lys605Glu)	ABL1 (K605E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250917	NM_005157.6(ABL1):c.1514-7T>G	ABL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3245345	NC_000009.11:g.(?_133540041)_(133761070_?)del	ABL1, EXOSC2 +1 more	Deletion	not provided	GUncertain significance
Select item 3245343	NC_000009.11:g.(?_133540041)_(133884994_?)dup	ABL1, EXOSC2 +4 more	Duplication	not provided	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3237368	NM_005157.6(ABL1):c.[1516G>A;1531G>C]	ABL1 (V506M +3 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GPathogenic
Select item 3236843	NM_005157.6(ABL1):c.1039A>C (p.Ile347Leu)	ABL1 (I347L +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	STier III - Unknown
Select item 3236842	NM_005157.6(ABL1):c.1298C>T (p.Ala433Val)	ABL1 (A433V +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	STier III - Unknown
Select item 3236841	NM_005157.6(ABL1):c.1414A>G (p.Met472Val)	ABL1 (M472V +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	STier III - Unknown
Select item 3236840	NM_005157.6(ABL1):c.599A>G (p.His200Arg)	ABL1 (H200R +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	STier III - Unknown
Select item 3236839	NM_005157.6(ABL1):c.946G>A (p.Glu316Lys)	ABL1 (E316K +1 more)	Single nucleotide variant (missense variant)	Chronic myelogenous leukemia, BCR-ABL1 positive	STier III - Unknown
Select item 3131779	NM_005157.6(ABL1):c.692A>G (p.Asn231Ser)	ABL1 (N231S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3131749	NM_005157.6(ABL1):c.268G>T (p.Val90Phe)	ABL1 (V90F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131680	NM_005157.6(ABL1):c.2914T>C (p.Ser972Pro)	ABL1 (S972P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131630	NM_005157.6(ABL1):c.2320C>A (p.Gln774Lys)	ABL1 (Q774K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131625	NM_005157.6(ABL1):c.2101G>T (p.Gly701Cys)	ABL1 (G701C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131608	NM_005157.6(ABL1):c.1642C>A (p.Pro548Thr)	ABL1 (P567T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131600	NM_005157.6(ABL1):c.1570C>G (p.Gln524Glu)	ABL1 (Q524E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131592	NM_005157.6(ABL1):c.1430A>G (p.Gln477Arg)	ABL1 (Q496R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131586	NM_005157.6(ABL1):c.1242C>G (p.Asn414Lys)	ABL1 (N414K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068519	NM_005157.6(ABL1):c.683T>C (p.Val228Ala)	ABL1 (V228A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
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 3053618	NM_005157.6(ABL1):c.1686G>T (p.Leu562=)	ABL1	Single nucleotide variant (synonymous variant)	ABL1-related disorder	GLikely benign
Select item 3023804	NM_005157.6(ABL1):c.907+13G>A	ABL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021458	NM_005157.6(ABL1):c.2247G>A (p.Ser749=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3019148	NM_005157.6(ABL1):c.919C>A (p.Arg307=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018007	NM_005157.6(ABL1):c.846G>A (p.Glu282=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016970	NM_005157.6(ABL1):c.2437C>T (p.Leu813=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3016226	NM_005157.6(ABL1):c.2323G>C (p.Val775Leu)	ABL1 (V794L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3016018	NM_005157.6(ABL1):c.1623C>G (p.His541Gln)	ABL1 (H541Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3013044	NM_005157.6(ABL1):c.2689C>T (p.Pro897Ser)	ABL1 (P897S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3011710	NM_005157.6(ABL1):c.3256G>A (p.Ala1086Thr)	ABL1 (A1086T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3008902	NM_005157.6(ABL1):c.2174G>A (p.Gly725Glu)	ABL1 (G725E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005560	NM_005157.6(ABL1):c.2401A>G (p.Ile801Val)	ABL1 (I820V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3005082	NM_005157.6(ABL1):c.457G>C (p.Glu153Gln)	ABL1 (E153Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004580	NM_005157.6(ABL1):c.3228A>C (p.Gln1076His)	ABL1 (Q1076H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3004384	NM_005157.6(ABL1):c.3201C>T (p.Cys1067=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001989	NM_005157.6(ABL1):c.2144G>A (p.Arg715His)	ABL1 (R715H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3001349	NM_005157.6(ABL1):c.644A>T (p.Tyr215Phe)	ABL1 (Y215F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000977	NM_005157.6(ABL1):c.2322G>A (p.Gln774=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998857	NM_005157.6(ABL1):c.2484G>A (p.Ser828=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997303	NM_005157.6(ABL1):c.1238A>T (p.Tyr413Phe)	ABL1 (Y432F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995590	NM_005157.6(ABL1):c.2821G>A (p.Val941Met)	ABL1 (V941M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2994457	NM_005157.6(ABL1):c.1911G>A (p.Glu637=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994066	NM_005157.6(ABL1):c.823-20T>C	ABL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993557	NM_005157.6(ABL1):c.1684C>T (p.Leu562=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993034	NM_005157.6(ABL1):c.2607C>T (p.Pro869=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991862	NM_005157.6(ABL1):c.2574C>T (p.Gly858=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991671	NM_005157.6(ABL1):c.1814AGA[6] (p.Lys609_Thr610insLys)	ABL1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2991584	NM_005157.6(ABL1):c.3108C>T (p.Thr1036=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990466	NM_005157.6(ABL1):c.2805G>A (p.Thr935=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2986539	NM_005157.6(ABL1):c.80-14C>G	ABL1, LOC107980440	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985401	NM_005157.6(ABL1):c.254-5C>G	ABL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984921	NM_005157.6(ABL1):c.1678+12G>A	ABL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984051	NM_005157.6(ABL1):c.2241T>A (p.Phe747Leu)	ABL1 (F747L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2983623	NM_005157.6(ABL1):c.2167C>T (p.Pro723Ser)	ABL1 (P723S +1 more)	Single nucleotide variant (missense 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 2981169	NM_005157.6(ABL1):c.2035T>A (p.Ser679Thr)	ABL1 (S679T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2979644	NM_005157.6(ABL1):c.2182G>A (p.Asp728Asn)	ABL1 (D747N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2977404	NM_005157.6(ABL1):c.621C>T (p.Asp207=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2977325	NM_005157.6(ABL1):c.1679-8C>T	ABL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977260	NM_005157.6(ABL1):c.2504A>C (p.Glu835Ala)	ABL1 (E835A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2976326	NM_005157.6(ABL1):c.2931C>G (p.Ser977Arg)	ABL1 (S977R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2974695	NM_005157.6(ABL1):c.2988G>A (p.Gln996=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974459	NM_005157.6(ABL1):c.2990C>T (p.Pro997Leu)	ABL1 (P997L +1 more)	Single nucleotide variant (missense 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 2973331	NM_005157.6(ABL1):c.1678+11C>T	ABL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972946	NM_005157.6(ABL1):c.1864C>T (p.Arg622Trp)	ABL1 (R622W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2972891	NM_005157.6(ABL1):c.254-9_254-6del	ABL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2970336	NM_005157.6(ABL1):c.1665C>G (p.Gly555=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970267	NM_005157.6(ABL1):c.1008C>T (p.Asn336=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969707	NM_005157.6(ABL1):c.1546C>T (p.Arg516Cys)	ABL1 (R535C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2968850	NM_005157.6(ABL1):c.823-11dup	ABL1	Duplication (intron variant)	not provided	GBenign

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