C0175695[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1400597	NM_022455.5(NSD1):c.58G>T (p.Val20Leu)	NSD1 (V20L)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1479687	NM_022455.5(NSD1):c.670T>C (p.Ser224Pro)	NSD1 (S224P)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 2434441	NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe)	NSD1 (I126F +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2434440	NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala)	NSD1 (G296A +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2434443	NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly)	NSD1 (C324G +4 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2689616	NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)	NSD1 (G479S +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2689615	NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)	NSD1 (V643I +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 2611643	NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)	NSD1 (L1005R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 449587	NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln)	NSD1 (R1072Q +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2689617	NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)	NSD1 (S1053N +3 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1309977	NM_022455.5(NSD1):c.4150C>T (p.Arg1384Trp)	NSD1 (R1115W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 159330	NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter)	NSD1 (R1471* +4 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)	Acute myeloid leukemia +3 more	GPathogenic
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 1323377	NM_022455.5(NSD1):c.6258+1G>T	NSD1	Single nucleotide variant (splice donor variant +1 more)	Sotos syndrome	GPathogenic
Select item 159421	NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter)	NSD1 (R2152* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 159422	NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)	NSD1 (R2152Q +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2434439	NM_022455.5(NSD1):c.6733G>A (p.Ala2245Thr)	NSD1 (A1871T +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1324822	NM_022455.5(NSD1):c.7227dup (p.Pro2410fs)	NSD1 (P2141fs +1 more)	Duplication (frameshift variant)	Sotos syndrome	GLikely pathogenic
Select item 2434442	NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)	NSD1 (A2185T +6 more)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 5896	NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	GH-LCR, SCN4A (T704M)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic

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Items: 21