"MGZ Medical Genetics Center"[submitter] AND "TRIP12"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709873	NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter)	TRIP12 (Y1692* +11 more)	Duplication (nonsense)	Clark-Baraitser syndrome	GLikely pathogenic
Select item 1709298	NM_001348323.3(TRIP12):c.4609A>G (p.Ile1537Val)	TRIP12 (I1192V +11 more)	Single nucleotide variant (missense variant)	Clark-Baraitser syndrome	GLikely benign
Select item 1709568	NM_001348323.3(TRIP12):c.4216-2A>G	TRIP12	Single nucleotide variant (splice acceptor variant)	Clark-Baraitser syndrome	GPathogenic
Select item 1709206	NM_001348323.3(TRIP12):c.692G>C (p.Gly231Ala)	TRIP12 (G189A +1 more)	Single nucleotide variant (missense variant +1 more)	Clark-Baraitser syndrome	GUncertain significance

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