C0175695[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930466	NM_022455.5(NSD1):c.709A>G (p.Lys237Glu)	NSD1 (K237E)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 930846	NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu)	NSD1 (F100L +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 931084	NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr)	NSD1 (S676Y +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 930994	NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter)	NSD1 (Q789* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 930415	NM_022455.5(NSD1):c.4055dup (p.Leu1352fs)	NSD1 (L1083fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	Macrocephaly +16 more	GPathogenic/Likely pathogenic
Select item 407363	NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter)	NSD1 (Y2142* +6 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 931215	NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe)	NSD1 (S2341F +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance

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