C4540327[trait identifier] AND "Institute for Human Genetics and Genom - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664088	NC_000010.11:g.79055368_79303220del	LOC110121445, LOC111365175 +36 more	Deletion	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 3068507	NM_182641.4(BPTF):c.7776dup (p.Arg2593fs)	BPTF (R2576fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic