C0004903[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 419698	NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs)	NSD1 (S651fs +1 more)	Deletion (frameshift variant)	Sotos syndrome +2 more	GPathogenic
Select item 197855	NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile)	NSD1 (A1186I +4 more)	Indel (missense variant)	Beckwith-Wiedemann syndrome +2 more	GUncertain significance
Select item 159312	NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)	NSD1 (E951fs +1 more)	Microsatellite (frameshift variant)	Sotos syndrome +2 more	GPathogenic
Select item 159395	NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)	NSD1 (R2005Q +5 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome +2 more	GPathogenic/Likely pathogenic
Select item 96077	NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)	NSD1 (P2257S +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 254879	NM_001122630.2(CDKN1C):c.*5+18dup	CDKN1C	Duplication (intron variant)	not provided +2 more	GBenign

ClinVar