C1970431[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7372	NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)	TCF4 (R385* +13 more)	Single nucleotide variant (nonsense)	Pitt-Hopkins syndrome +2 more	GPathogenic
Select item 375631	NM_001083962.2(TCF4):c.1136dup (p.Leu379fs)	TCF4 (L163fs +13 more)	Duplication (frameshift variant)	Pitt-Hopkins syndrome	GLikely pathogenic
Select item 695020	NM_001083962.2(TCF4):c.1067C>A (p.Ser356Ter)	TCF4 (S332* +11 more)	Single nucleotide variant (nonsense)	Pitt-Hopkins syndrome	GPathogenic

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