C4539951[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523197	GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1	LOC129937632, LOC129937633 +11 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523198	GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1	IL20RB, IL20RB-AS1 +26 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 1028434	NM_005862.3(STAG1):c.2306T>C (p.Val769Ala)	STAG1 (V769A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028433	NM_005862.3(STAG1):c.2285T>C (p.Leu762Ser)	STAG1 (L762S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1032366	NM_005862.3(STAG1):c.2254A>C (p.Ile752Leu)	STAG1 (I752L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1028432	NM_005862.3(STAG1):c.2077T>C (p.Ser693Pro)	STAG1 (S693P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 523186	NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs)	STAG1 (N670fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 1032365	NM_005862.3(STAG1):c.1919A>G (p.Tyr640Cys)	STAG1 (Y640C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1028431	NM_005862.3(STAG1):c.1442C>A (p.Ala481Glu)	STAG1 (A481E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 523187	NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys)	STAG1 (R377C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47 +1 more	GPathogenic/Likely pathogenic
Select item 437899	NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)	STAG1 (R373Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47 +2 more	GPathogenic/Likely pathogenic
Select item 1032367	NM_005862.3(STAG1):c.471+4T>G	STAG1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2441671	NM_005862.3(STAG1):c.418C>T (p.Arg140Ter)	STAG1 (R140*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523188	NM_005862.3(STAG1):c.253G>A (p.Val85Ile)	STAG1 (V85I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1028435	NM_005862.3(STAG1):c.42_44dup (p.Asn14_Glu15insAsp)	STAG1	Duplication (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic