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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975899	NM_001348323.3(TRIP12):c.6184C>T (p.Gln2062Ter)	TRIP12 (Q1717* +11 more)	Single nucleotide variant (nonsense)	Clark-Baraitser syndrome	GUncertain significance
Select item 1285508	NM_001348323.3(TRIP12):c.4726del (p.Ser1576fs)	TRIP12 (S1231fs +11 more)	Deletion (frameshift variant)	Clark-Baraitser syndrome	GPathogenic
Select item 2578429	NM_001348323.3(TRIP12):c.3869del (p.Leu1290fs)	TRIP12 (L1215fs +8 more)	Deletion (frameshift variant)	Clark-Baraitser syndrome	GPathogenic
Select item 873430	NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs)	TRIP12 (S1195fs +8 more)	Deletion (frameshift variant)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 975859	NM_001348323.3(TRIP12):c.3774G>T (p.Glu1258Asp)	TRIP12 (E1183D +8 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GUncertain significance
Select item 489242	NM_001348323.3(TRIP12):c.1651C>T (p.Arg551Ter)	TRIP12 (R503* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

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