C0175695[trait identifier] AND "Laboratory of Medical Genetics, Nation - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708077	NM_022455.5(NSD1):c.26G>T (p.Arg9Ile)	NSD1 (R9I)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 637041	NM_022455.5(NSD1):c.2137dup (p.Met713fs)	NSD1 (M444fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GPathogenic
Select item 279857	NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)	NSD1 (R1861* +5 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 3256583	NM_022455.5(NSD1):c.5711C>T (p.Pro1904Leu)	NSD1 (P1613L +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 159375	NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys)	NSD1 (R1914C +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GPathogenic
Select item 1299651	NM_022455.5(NSD1):c.5824_5828del (p.Pro1942fs)	NSD1 (P1673fs +1 more)	Deletion (frameshift variant)	Sotos syndrome	GPathogenic
Select item 1708152	NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)	NSD1 (G1662V +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely pathogenic
Select item 159394	NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)	NSD1 (R2005* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	not provided +16 more	GPathogenic/Likely pathogenic
Select item 637037	NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter)	NSD1 (E2120* +6 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 1334026	NM_022455.5(NSD1):c.6871_6873delinsTAT (p.Gln2291Tyr)	NSD1 (Q2022Y +6 more)	Indel (missense variant)	Sotos syndrome	GUncertain significance
Select item 1708139	NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter)	NSD1 (W2289* +6 more)	Single nucleotide variant (nonsense)	Sotos syndrome	GPathogenic
Select item 5896	NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	GH-LCR, SCN4A (T704M)	Single nucleotide variant (missense variant)	Sotos syndrome +8 more	GPathogenic