"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983039	NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs)	LOC126806878, TBL1XR1 +1 more (R253fs +1 more)	Microsatellite (frameshift variant)	Pierpont syndrome	GLikely pathogenic
Select item 1285415	NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp)	TBL1XR1, TBL1XR1-AS1 (G156D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 41	GLikely pathogenic