C0175695[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064436	NM_022455.5(NSD1):c.1286A>G (p.Glu429Gly)	NSD1 (E138G +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3065835	NM_022455.5(NSD1):c.1925C>A (p.Ser642Tyr)	NSD1 (S351Y +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 191203	NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter)	NSD1 (Y686* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3064159	NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)	NSD1 (Q484* +3 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 3065221	NM_022455.5(NSD1):c.2466_2467del (p.Pro823fs)	NSD1 (P532fs +3 more)	Microsatellite (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 3065271	NM_022455.5(NSD1):c.3815A>T (p.Lys1272Ile)	NSD1 (K1021I +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 3067829	NM_022455.5(NSD1):c.5503A>G (p.Lys1835Glu)	LOC126807619, NSD1 (K1544E +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 159400	NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter)	NSD1 (Q2024* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

ClinVar