ClinVar for MedGen (Select 1618340) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2431598	NM_005157.6(ABL1):c.1513G>A (p.Glu505Lys)	ABL1 (E505K +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 1803095	NM_005157.6(ABL1):c.1511A>G (p.Asp504Gly)	ABL1 (D504G +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GLikely pathogenic
Select item 1802274	NM_005157.6(ABL1):c.1506C>G (p.Ile502Met)	ABL1 (I502M +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
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 1599197	NM_005157.6(ABL1):c.822+16C>G	ABL1	Single nucleotide variant (intron variant)	Congenital heart defects and skeletal malformations syndrome +2 more	GBenign/Likely benign
Select item 1594971	NM_005157.6(ABL1):c.2035T>G (p.Ser679Ala)	ABL1 (S679A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 1333404	NM_005157.6(ABL1):c.1378C>A (p.Arg460Ser)	ABL1 (R460S +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 1333299	NM_005157.6(ABL1):c.2351C>G (p.Pro784Arg)	ABL1 (P784R +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 1320190	NM_005157.6(ABL1):c.1190C>T (p.Ala397Val)	ABL1 (A397V +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GLikely pathogenic
Select item 1184856	NM_005157.6(ABL1):c.1388G>A (p.Gly463Asp)	ABL1 (G463D +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 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 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 983213	NM_005157.6(ABL1):c.1525G>A (p.Glu509Lys)	ABL1 (E509K +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome +1 more	GPathogenic/Likely pathogenic
Select item 983212	NM_005157.6(ABL1):c.1517T>C (p.Val506Ala)	ABL1 (V506A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome +1 more	GPathogenic/Likely pathogenic
Select item 983211	NM_005157.6(ABL1):c.1297G>A (p.Ala433Thr)	ABL1 (A433T +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome +1 more	GLikely pathogenic
Select item 948210	NM_005157.6(ABL1):c.674T>C (p.Val225Ala)	ABL1 (V225A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome +1 more	GUncertain significance
Select item 931707	NM_005157.6(ABL1):c.3203T>C (p.Val1068Ala)	ABL1 (V1087A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 930904	NM_005157.6(ABL1):c.2534del (p.Pro845fs)	ABL1 (P845fs +1 more)	Deletion (frameshift variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 929420	NM_005157.6(ABL1):c.1531G>C (p.Gly511Arg)	ABL1 (G511R +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GUncertain significance
Select item 929419	NM_005157.6(ABL1):c.1516G>A (p.Val506Met)	ABL1 (V506M +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects and skeletal malformations syndrome	GPathogenic
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 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	GLikely pathogenic
Select item 723652	NM_005157.6(ABL1):c.2117G>T (p.Gly706Val)	ABL1 (G706V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 713869	NM_005157.6(ABL1):c.1899C>T (p.Ala633=)	ABL1	Single nucleotide variant (synonymous variant)	Chronic myelogenous leukemia, BCR-ABL1 positive +2 more	GBenign/Likely benign
Select item 374795	NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys)	ABL1 (Y226C +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely 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

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Items: 33