C1853490[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444497	NM_001372044.2(SHANK3):c.335A>C (p.Gln112Pro)	SHANK3 (Q112P +1 more)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GLikely benign
Select item 997006	NM_001372044.2(SHANK3):c.1871G>C (p.Arg624Pro)	LOC126863188, SHANK3 (R624P)	Single nucleotide variant (missense variant)	Phelan-McDermid syndrome	GLikely pathogenic
Select item 995856	NM_001372044.2(SHANK3):c.2648G>C (p.Arg883Pro)	SHANK3 (R883P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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