"PreventionGenetics, part of Exact Sciences"[submitter] AND "ABL1"[gen - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133448	NM_005157.6(ABL1):c.128G>A (p.Ser43Asn)	ABL1, LOC107980440 (S43N +1 more)	Single nucleotide variant (missense variant)	ABL1-related disorder +1 more	GBenign
Select item 2813675	NM_005157.6(ABL1):c.359A>C (p.Asn120Thr)	ABL1 (N139T +1 more)	Single nucleotide variant (missense variant)	ABL1-related disorder +1 more	GUncertain significance
Select item 133450	NM_005157.6(ABL1):c.740A>G (p.Lys247Arg)	ABL1 (K247R +1 more)	Single nucleotide variant (missense variant)	ABL1-related disorder +1 more	GBenign/Likely benign
Select item 724351	NM_005157.6(ABL1):c.843A>G (p.Glu281=)	ABL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2636569	NM_005157.6(ABL1):c.1550G>A (p.Gly517Glu)	ABL1 (G517E +1 more)	Single nucleotide variant (missense variant)	ABL1-related disorder	GUncertain significance
Select item 2076251	NM_005157.6(ABL1):c.1674G>A (p.Glu558=)	ABL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2152559	NM_005157.6(ABL1):c.1679-10T>C	ABL1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 2636140	NM_005157.6(ABL1):c.2025G>C (p.Glu675Asp)	ABL1 (E675D +1 more)	Single nucleotide variant (missense variant)	ABL1-related disorder	GUncertain significance
Select item 1594971	NM_005157.6(ABL1):c.2035T>G (p.Ser679Ala)	ABL1 (S679A +1 more)	Single nucleotide variant (missense variant)	ABL1-related disorder +3 more	GBenign/Likely benign
Select item 783560	NM_005157.6(ABL1):c.2187G>A (p.Thr729=)	ABL1	Single nucleotide variant (synonymous variant)	ABL1-related disorder +1 more	GBenign/Likely benign
Select item 2632509	NM_005157.6(ABL1):c.2220G>T (p.Leu740Phe)	ABL1 (L740F +1 more)	Single nucleotide variant (missense variant)	ABL1-related disorder	GUncertain significance
Select item 1593849	NM_005157.6(ABL1):c.2301A>G (p.Ala767=)	ABL1	Single nucleotide variant (synonymous variant)	ABL1-related disorder +1 more	GLikely benign
Select item 1596447	NM_005157.6(ABL1):c.2352C>G (p.Pro784=)	ABL1	Single nucleotide variant (synonymous variant)	ABL1-related disorder +1 more	GBenign
Select item 2633134	NM_005157.6(ABL1):c.2614G>A (p.Glu872Lys)	ABL1 (E872K +1 more)	Single nucleotide variant (missense variant)	ABL1-related disorder	GUncertain significance
Select item 2438791	NM_005157.6(ABL1):c.2812G>A (p.Val938Ile)	ABL1 (V938I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1536286	NM_005157.6(ABL1):c.2883G>A (p.Pro961=)	ABL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1318667	NM_005157.6(ABL1):c.3002C>T (p.Ala1001Val)	ABL1 (A1001V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2084004	NM_005157.6(ABL1):c.3067G>A (p.Ala1023Thr)	ABL1 (A1023T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 735793	NM_005157.6(ABL1):c.3114G>A (p.Ala1038=)	ABL1	Single nucleotide variant (synonymous variant)	ABL1-related disorder +1 more	GLikely benign
Select item 2906016	NM_005157.6(ABL1):c.3225G>A (p.Gln1075=)	ABL1	Single nucleotide variant (synonymous variant)	ABL1-related disorder +1 more	GLikely benign

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Items: 21