ABL1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 606

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	LOC130003073, LOC130003074 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130002603, LOC130002604 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MIR3621, MIR3689A +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC112637025, LOC112639999 +656 more	Copy number gain	See cases	GPathogenic
Select item 2142206	NM_007313.3(ABL1):c.16G>A (p.Gly6Arg)	LOC107980440, ABL1 (G6R)	Single nucleotide variant (missense 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)	Inborn genetic diseases +1 more	GUncertain significance
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 2116585	NM_007313.3(ABL1):c.29G>A (p.Gly10Glu)	LOC107980440, ABL1 (G10E)	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 3009681	NM_007313.3(ABL1):c.57C>T (p.Ala19=)	ABL1, LOC107980440	Single nucleotide variant (synonymous 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 2185407	NM_007313.3(ABL1):c.108T>A (p.Gly36=)	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 1921933	NM_007313.3(ABL1):c.136+13C>A	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 1593111	NM_005157.6(ABL1):c.80-17C>G	ABL1, LOC107980440	Single nucleotide variant (intron 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 1955268	NM_005157.6(ABL1):c.80-12T>C	ABL1, LOC107980440	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 133448	NM_005157.6(ABL1):c.128G>A (p.Ser43Asn)	ABL1, LOC107980440 (S43N +1 more)	Single nucleotide variant (missense variant)	ABL1-related condition +1 more	GBenign
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 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 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 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 2066230	NM_005157.6(ABL1):c.166G>A (p.Ala56Thr)	ABL1 (A56T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2791895	NM_005157.6(ABL1):c.169G>A (p.Gly57Arg)	ABL1 (G57R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049033	NM_005157.6(ABL1):c.177T>C (p.Ser59=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610840	NM_005157.6(ABL1):c.183T>C (p.Asn61=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1704865	NM_005157.6(ABL1):c.188C>T (p.Pro63Leu)	ABL1 (P63L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802598	NM_005157.6(ABL1):c.198C>T (p.Phe66=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761161	NM_005157.6(ABL1):c.204A>G (p.Ala68=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719810	NM_005157.6(ABL1):c.249T>G (p.Thr83=)	ABL1	Single nucleotide variant (synonymous variant)	Congenital heart defects and skeletal malformations syndrome +2 more	GBenign/Likely benign
Select item 2807194	NM_005157.6(ABL1):c.253+11dup	ABL1	Duplication (intron variant)	not provided	GLikely benign
Select item 2964675	NM_005157.6(ABL1):c.253+16del	ABL1	Deletion (intron variant)	not provided	GLikely benign
Select item 1927416	NM_005157.6(ABL1):c.253+14G>A	ABL1	Single nucleotide variant (intron 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 2985401	NM_005157.6(ABL1):c.254-5C>G	ABL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2273548	NM_005157.6(ABL1):c.254-5C>T	ABL1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2894127	NM_005157.6(ABL1):c.265C>T (p.Arg89Trp)	ABL1 (R108W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936736	NM_005157.6(ABL1):c.267G>A (p.Arg89=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1625214	NM_005157.6(ABL1):c.270C>G (p.Val90=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932184	NM_005157.6(ABL1):c.278A>G (p.Tyr93Cys)	ABL1 (Y112C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1916719	NM_005157.6(ABL1):c.282T>A (p.Asn94Lys)	ABL1 (N94K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 133449	NM_005157.6(ABL1):c.287A>G (p.Asn96Ser)	ABL1 (N115S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2959420	NM_005157.6(ABL1):c.291G>C (p.Gly97=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982223	NM_005157.6(ABL1):c.292G>T (p.Glu98Ter)	ABL1 (E117* +1 more)	Single nucleotide variant (nonsense)	Moyamoya angiopathy	GLikely pathogenic
Select item 987880	NM_005157.6(ABL1):c.295T>C (p.Trp99Arg)	ABL1 (W118R +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GLikely pathogenic
Select item 1493549	NM_005157.6(ABL1):c.311C>G (p.Thr104Ser)	ABL1 (T104S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2697198	NM_005157.6(ABL1):c.348C>T (p.Ile116=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 929418	NM_005157.6(ABL1):c.350C>T (p.Thr117Met)	ABL1 (T117M +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1536192	NM_005157.6(ABL1):c.351G>A (p.Thr117=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2813675	NM_005157.6(ABL1):c.359A>C (p.Asn120Thr)	ABL1 (N139T +1 more)	Single nucleotide variant (missense variant)	ABL1-related condition +1 more	GUncertain significance
Select item 724041	NM_005157.6(ABL1):c.366G>A (p.Leu122=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2496068	NM_005157.6(ABL1):c.367G>C (p.Glu123Gln)	ABL1 (E123Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1583885	NM_005157.6(ABL1):c.378C>T (p.Ser126=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2444763	NM_005157.6(ABL1):c.379T>G (p.Trp127Gly)	ABL1 (W127G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855540	NM_005157.6(ABL1):c.381G>A (p.Trp127Ter)	ABL1 (W127* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2180039	NM_005157.6(ABL1):c.387T>C (p.His129=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900859	NM_005157.6(ABL1):c.390G>C (p.Gly130=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903618	NM_005157.6(ABL1):c.408C>T (p.Ala136=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1930845	NM_005157.6(ABL1):c.409G>T (p.Ala137Ser)	ABL1 (A156S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2191865	NM_005157.6(ABL1):c.429C>T (p.Ser143=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1450318	NM_005157.6(ABL1):c.437A>G (p.Asn146Ser)	ABL1 (N146S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1707978	NM_005157.6(ABL1):c.473C>G (p.Pro158Arg)	ABL1 (P158R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488448	NM_005157.6(ABL1):c.473C>T (p.Pro158Leu)	ABL1 (P158L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870560	NM_005157.6(ABL1):c.486C>T (p.Ser162=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741431	NM_005157.6(ABL1):c.501C>T (p.Tyr167=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2700208	NM_005157.6(ABL1):c.539C>T (p.Ser180Phe)	ABL1 (S180F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724566	NM_005157.6(ABL1):c.544G>A (p.Gly182Ser)	ABL1 (G182S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714617	NM_005157.6(ABL1):c.549+4G>A	ABL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2782645	NM_005157.6(ABL1):c.549+8A>G	ABL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927156	NM_005157.6(ABL1):c.549+14G>A	ABL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540716	NM_005157.6(ABL1):c.550-7C>T	ABL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996829	NM_005157.6(ABL1):c.550C>T (p.Leu184Phe)	ABL1 (L184F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075509	NM_005157.6(ABL1):c.555C>T (p.Tyr185=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351561	NM_005157.6(ABL1):c.556G>A (p.Val186Ile)	ABL1 (V186I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967178	NM_005157.6(ABL1):c.561C>T (p.Ser187=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2854360	NM_005157.6(ABL1):c.570C>A (p.Ser190Arg)	ABL1 (S190R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896884	NM_005157.6(ABL1):c.582C>G (p.Thr194=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555155	NM_005157.6(ABL1):c.589G>A (p.Glu197Lys)	ABL1 (E197K +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2189181	NM_005157.6(ABL1):c.592T>C (p.Leu198=)	ABL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820433	NM_005157.6(ABL1):c.595G>A (p.Val199Ile)	ABL1 (V199I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 7