"Ambry Genetics"[submitter] AND "LOC129935026"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3174891	NM_006593.4(TBR1):c.1558G>A (p.Gly520Ser)	LOC129935026, TBR1 (G520S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1775320	NM_006593.4(TBR1):c.1563G>C (p.Val521=)	LOC129935026, TBR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 224144	NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	LOC129935026, TBR1 (T532fs)	Microsatellite (frameshift variant)	Severe global developmental delay +12 more	GPathogenic/Likely pathogenic
Select item 2616540	NM_006593.4(TBR1):c.1586C>T (p.Ala529Val)	LOC129935026, TBR1 (A529V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589337	NM_006593.4(TBR1):c.1605G>A (p.Pro535=)	LOC129935026, TBR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1776539	NM_006593.4(TBR1):c.1618G>A (p.Ala540Thr)	LOC129935026, TBR1 (A540T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar