"Mendelics"[submitter] AND "SHANK3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 803709	NM_001372044.2(SHANK3):c.494+2T>G	SHANK3	Single nucleotide variant (splice donor variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 1685103	NM_001372044.2(SHANK3):c.3151C>T (p.Pro1051Ser)	SHANK3 (P1051S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 372707	NM_001372044.2(SHANK3):c.3649_3650del	SHANK3	Deletion	Autism spectrum disorder +2 more	GPathogenic/Likely pathogenic

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