"MGZ Medical Genetics Center"[submitter] AND "TCF4"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560273	NM_001083962.2(TCF4):c.1849G>T (p.Val617Phe)	TCF4 (V617F +21 more)	Single nucleotide variant (missense variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 1709057	NM_001083962.2(TCF4):c.1351-1G>C	LOC121627832, TCF4	Single nucleotide variant (splice acceptor variant)	Pitt-Hopkins syndrome	GLikely pathogenic