Related gene-specific medical variations for Gene (Select 54904) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301140	NM_023034.2(NSD3):c.700G>C (p.Val234Leu)	LOC107133509, NSD3 (V234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202341	NM_023034.2(NSD3):c.779C>T (p.Thr260Met)	LOC107133509, NSD3 (T260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202340	NM_023034.2(NSD3):c.779C>A (p.Thr260Lys)	LOC107133509, NSD3 (T260K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202339	NM_023034.2(NSD3):c.767C>G (p.Ser256Cys)	LOC107133509, NSD3 (S256C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202338	NM_023034.2(NSD3):c.676A>G (p.Arg226Gly)	LOC107133509, NSD3 (R226G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034422	NM_023034.2(NSD3):c.771T>C (p.Val257=)	LOC107133509, NSD3	Single nucleotide variant (synonymous variant)	NSD3-related disorder	GLikely benign
Select item 756999	NM_023034.2(NSD3):c.819T>C (p.Leu273=)	LOC107133509, NSD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752924	NM_023034.2(NSD3):c.760C>T (p.Leu254=)	LOC107133509, NSD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar