"Klinisk genetik och genomik Research, Gothenburg University"[submitte - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691565	NM_207037.2(TCF12):c.1606del (p.Thr536fs)	TCF12 (T276fs +9 more)	Deletion (frameshift variant)	Craniosynostosis syndrome	GLikely pathogenic
Select item 2664498	NM_207037.2(TCF12):c.1746-8T>G	TCF12	Single nucleotide variant (intron variant)	TCF12-related craniosynostosis	GLikely pathogenic
Select item 691564	NM_207037.2(TCF12):c.1769del (p.Asp589_Leu590insTer)	TCF12	Deletion (nonsense)	Craniosynostosis syndrome	GLikely pathogenic

Format

Sort by

Choose Destination