C0175695[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687447	NM_022455.5(NSD1):c.1291T>C (p.Tyr431His)	NSD1 (Y162H +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1320149	NM_022455.5(NSD1):c.1727dup (p.Asn576fs)	NSD1 (N307fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 1526087	NM_022455.5(NSD1):c.3004_3007del (p.Lys1002fs)	NSD1 (K1002fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 159298	NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)	NSD1 (R1023* +4 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 816943	NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter)	NSD1 (R1497* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 194672	NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter)	LOC126807619, NSD1 (R1778* +5 more)	Single nucleotide variant (nonsense)	Sotos syndrome +3 more	GPathogenic
Select item 1333585	NM_022455.5(NSD1):c.5726_5727del (p.Asp1908_Ser1909insTer)	NSD1	Microsatellite (frameshift variant +1 more)	Sotos syndrome	GLikely pathogenic
Select item 1306845	NM_022455.5(NSD1):c.5741G>A (p.Arg1914His)	NSD1 (R1645H +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333377	NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys)	NSD1 (R1770C +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GConflicting classifications of pathogenicity
Select item 5896	NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	GH-LCR, SCN4A (T704M)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +8 more	GPathogenic