ClinVar (all) for Orgtrack (Select 507709) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1809709	NM_001172509.2(SATB2):c.1624dup (p.Arg542fs)	SATB2 (R542fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1809708	NM_001172509.2(SATB2):c.1105_1106insT (p.Arg369fs)	SATB2 (R369fs)	Insertion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1809707	NM_001172509.2(SATB2):c.1016del (p.Phe339fs)	SATB2 (F339fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1809706	NM_001172509.2(SATB2):c.805G>T (p.Glu269Ter)	SATB2 (E269*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1809705	NM_001172509.2(SATB2):c.642_643dup (p.Ser215fs)	SATB2 (S215fs)	Microsatellite (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1809704	NM_001172509.2(SATB2):c.622dup (p.Ser208fs)	SATB2 (S208fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1809703	NM_001172509.2(SATB2):c.138del (p.Arg46fs)	SATB2 (R46fs)	Deletion (frameshift variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1809702	NM_001172509.2(SATB2):c.1634T>C (p.Leu545Pro)	SATB2 (L545P)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1809701	NM_001172509.2(SATB2):c.344_346+1dup	SATB2	Duplication (splice donor variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1809700	NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)	SATB2 (Q409R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 975818	NM_015076.5(CDK19):c.594G>C (p.Trp198Cys)	CDK19 (W138C +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GUncertain significance
Select item 975817	NM_015076.5(CDK19):c.589T>C (p.Phe197Leu)	CDK19 (F137L +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GLikely pathogenic
Select item 975816	NM_015076.5(CDK19):c.95A>G (p.Tyr32Cys)	AMD1, CDK19 (Y32C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GConflicting classifications of pathogenicity
Select item 975815	NM_015076.5(CDK19):c.82G>A (p.Gly28Arg)	AMD1, CDK19 (G28R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GPathogenic
Select item 973822	NM_015076.5(CDK19):c.82G>C (p.Gly28Arg)	AMD1, CDK19 (G28R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 929848	NM_015076.5(CDK19):c.94T>C (p.Tyr32His)	AMD1, CDK19 (Y32H)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 87	GPathogenic