"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235851	NM_001083962.2(TCF4):c.1487-5G>A	TCF4	Single nucleotide variant (intron variant)	Pitt-Hopkins syndrome +5 more	GConflicting classifications of pathogenicity
Select item 235853	NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter)	TCF4 (R174* +8 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 93545	NM_001083962.2(TCF4):c.514_517del (p.Lys172fs)	TCF4 (K42fs +8 more)	Microsatellite (frameshift variant)	Pitt-Hopkins syndrome +3 more	GPathogenic

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ClinVar