C0175695[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1172670	NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter)	NSD1 (Q1037* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 666299	NM_022455.5(NSD1):c.4538_4539insTCCT (p.Glu1513fs)	NSD1 (E1244fs +1 more)	Insertion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 436065	NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr)	NSD1 (I2007T +5 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 666325	NM_022455.5(NSD1):c.6256A>T (p.Lys2086Ter)	NSD1 (K1817* +5 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GLikely pathogenic
Select item 159412	NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)	NSD1 (R2117* +6 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 159422	NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)	NSD1 (R2152Q +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar