C1853490[trait identifier] AND "Institute of Medical Genetics and Appl - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 546923	NM_001372044.2(SHANK3):c.2455+1G>A	SHANK3	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 279892	NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)	SHANK3 (R1255fs +1 more)	Deletion (frameshift variant)	Phelan-McDermid syndrome +4 more	GPathogenic
Select item 2663911	NM_001372044.2(SHANK3):c.4396G>T (p.Glu1466Ter)	SHANK3 (E1391* +1 more)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome	GPathogenic

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