Related gene-specific medical variations for Gene (Select 7468) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064105	NM_001042424.3(NSD2):c.2518+1G>A	NSD2	Single nucleotide variant (splice donor variant)	Rauch-Steindl syndrome	GPathogenic
Select item 2689618	NM_001042424.3(NSD2):c.3918G>T (p.Glu1306Asp)	NSD2 (E1306D)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GUncertain significance
Select item 2582398	NM_001042424.3(NSD2):c.3484G>A (p.Gly1162Ser)	NSD2 (G1162S)	Single nucleotide variant (missense variant)	Rauch-Steindl syndrome	GLikely pathogenic
Select item 2575987	NM_001042424.3(NSD2):c.1879G>T (p.Glu627Ter)	NSD2 (E627*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2432337	NM_001042424.3(NSD2):c.2175_2178del (p.Asp726fs)	NSD2 (D726fs)	Deletion (frameshift variant)	Rauch-Steindl syndrome	GLikely pathogenic
Select item 1693301	NM_001042424.3(NSD2):c.3019A>C (p.Thr1007Pro)	NSD2 (T1007P)	Single nucleotide variant (missense variant)	NSD2-related neurodevelopmental disorder	GUncertain significance
Select item 1341795	NM_001042424.3(NSD2):c.274G>A (p.Gly92Ser)	NSD2 (G92S)	Single nucleotide variant (missense variant)	Wolf-Hirschhorn like syndrome	GUncertain significance
Select item 1098704	NM_001042424.3(NSD2):c.2639del (p.Phe880fs)	NSD2 (F880fs)	Deletion (frameshift variant)	Wolf-Hirschhorn like syndrome	GLikely pathogenic
Select item 814527	GRCh37/hg19 4p16.3(chr4:1929873-1953592)x1	NSD2	Copy number loss	not provided	GUncertain significance
Select item 688489	GRCh37/hg19 4p16.3(chr4:1941633-1967304)x1	NSD2	Copy number loss	not provided	GUncertain significance