"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579264	GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	LOC129995352, LOC129995353 +65 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 2500905	NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)	NSD1 (Q1011* +3 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 2500849	NM_022455.5(NSD1):c.3922-9T>A	NSD1	Single nucleotide variant (intron variant)	Sotos syndrome	GUncertain significance

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