"Baylor Genetics"[submitter] AND "ABL1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1034374	NM_005157.6(ABL1):c.635C>T (p.Thr212Met)	ABL1 (T231M +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 374795	NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys)	ABL1 (Y226C +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome +4 more	GPathogenic/Likely pathogenic
Select item 917884	NM_005157.6(ABL1):c.689C>T (p.Pro230Leu)	ABL1 (P249L +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome +1 more	GLikely pathogenic
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 374794	NM_005157.6(ABL1):c.1009G>A (p.Ala337Thr)	ABL1 (A337T +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome +4 more	GPathogenic
Select item 1029154	NM_005157.6(ABL1):c.2351C>T (p.Pro784Leu)	ABL1 (P803L +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GLikely pathogenic
Select item 1034373	NM_005157.6(ABL1):c.3109G>C (p.Glu1037Gln)	ABL1 (E1037Q +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic