"Ambry Genetics"[submitter] AND "ABL1"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2273548	NM_005157.6(ABL1):c.254-5C>T	ABL1	Single nucleotide variant (intron variant)	Inborn genetic diseases	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 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 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 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 2604395	NM_005157.6(ABL1):c.716G>A (p.Arg239His)	ABL1 (R239H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368770	NM_005157.6(ABL1):c.959A>G (p.Tyr320Cys)	ABL1 (Y320C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2248795	NM_005157.6(ABL1):c.992A>T (p.Asn331Ile)	ABL1 (N331I +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 1918878	NM_005157.6(ABL1):c.1119G>C (p.Glu373Asp)	ABL1 (E373D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 2616808	NM_005157.6(ABL1):c.1370G>T (p.Arg457Leu)	ABL1 (R457L +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 985173	NM_005157.6(ABL1):c.1505T>C (p.Ile502Thr)	ABL1 (I502T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2259906	NM_005157.6(ABL1):c.1547G>A (p.Arg516His)	ABL1 (R535H +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 2269223	NM_005157.6(ABL1):c.1594A>T (p.Thr532Ser)	ABL1 (T532S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072171	NM_005157.6(ABL1):c.1639G>A (p.Val547Met)	ABL1 (V566M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 2261053	NM_005157.6(ABL1):c.1778A>C (p.Lys593Thr)	ABL1 (K593T +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 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 2372104	NM_005157.6(ABL1):c.1991A>G (p.Asn664Ser)	ABL1 (N664S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 133434	NM_005157.6(ABL1):c.2009A>G (p.Asn670Ser)	ABL1 (N670S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1988890	NM_005157.6(ABL1):c.2021G>A (p.Arg674Gln)	ABL1 (R693Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2285374	NM_005157.6(ABL1):c.2081C>T (p.Thr694Ile)	ABL1 (T694I +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 2175860	NM_005157.6(ABL1):c.2212C>T (p.Arg738Trp)	ABL1 (R738W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2899065	NM_005157.6(ABL1):c.2333G>A (p.Gly778Asp)	ABL1 (G797D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2188251	NM_005157.6(ABL1):c.2359G>A (p.Val787Met)	ABL1 (V787M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2230512	NM_005157.6(ABL1):c.2371G>A (p.Glu791Lys)	ABL1 (E791K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133439	NM_005157.6(ABL1):c.2416C>A (p.Pro806Thr)	ABL1 (P806T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2356697	NM_005157.6(ABL1):c.2455C>T (p.Arg819Trp)	ABL1 (R819W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2249600	NM_005157.6(ABL1):c.2459G>A (p.Arg820Gln)	ABL1 (R839Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374904	NM_005157.6(ABL1):c.2492C>T (p.Pro831Leu)	ABL1 (P850L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2321051	NM_005157.6(ABL1):c.2534C>T (p.Pro845Leu)	ABL1 (P845L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2713312	NM_005157.6(ABL1):c.2600A>G (p.Lys867Arg)	ABL1 (K886R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2479234	NM_005157.6(ABL1):c.2626A>T (p.Arg876Trp)	ABL1 (R876W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1981426	NM_005157.6(ABL1):c.2812G>C (p.Val938Leu)	ABL1 (V957L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 1897045	NM_005157.6(ABL1):c.2875G>A (p.Val959Met)	ABL1 (V978M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2248736	NM_005157.6(ABL1):c.2897C>T (p.Pro966Leu)	ABL1 (P966L +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 2206300	NM_005157.6(ABL1):c.2924C>T (p.Pro975Leu)	ABL1 (P994L +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 2486379	NM_005157.6(ABL1):c.2960C>T (p.Ser987Leu)	ABL1 (S1006L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2107338	NM_005157.6(ABL1):c.2992T>C (p.Ser998Pro)	ABL1 (S1017P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2295614	NM_005157.6(ABL1):c.3017T>C (p.Ile1006Thr)	ABL1 (I1006T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2216045	NM_005157.6(ABL1):c.3047G>A (p.Arg1016His)	ABL1 (R1016H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1921705	NM_005157.6(ABL1):c.3073G>A (p.Gly1025Ser)	ABL1 (G1025S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2258189	NM_005157.6(ABL1):c.3202G>A (p.Val1068Met)	ABL1 (V1087M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278232	NM_005157.6(ABL1):c.3359C>T (p.Ser1120Leu)	ABL1 (S1120L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 55