C2676739[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690694	NM_001172509.2(SATB2):c.1741-2A>C	LOC126806462, SATB2	Single nucleotide variant (splice acceptor variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1323551	NM_001172509.2(SATB2):c.1705dup (p.Gln569fs)	SATB2 (Q569fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 589354	NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile)	SATB2 (M568I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1216478	NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu)	SATB2 (S466L)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 588166	NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro)	SATB2 (R399P)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1164710	NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser)	SATB2 (N268S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GConflicting classifications of pathogenicity
Select item 2435659	NM_001172509.2(SATB2):c.734A>G (p.Tyr245Cys)	SATB2 (Y245C)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2519	NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)	SATB2 (R239*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome +2 more	GPathogenic
Select item 2435658	NM_001172509.2(SATB2):c.555G>T (p.Glu185Asp)	SATB2 (E185D)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2435656	NM_001172509.2(SATB2):c.158A>G (p.Lys53Arg)	SATB2 (K53R)	Single nucleotide variant (missense variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance