Related gene-specific medical variations for Gene (Select 56474) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315946	NM_004057.3(S100G):c.188G>A (p.Gly63Glu)	CTPS2, S100G (G63E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157409	NM_004057.3(S100G):c.137G>A (p.Gly46Asp)	CTPS2, S100G (G46D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660066	NM_004057.3(S100G):c.135+8G>A	CTPS2, S100G	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2512011	NM_004057.3(S100G):c.206A>C (p.Glu69Ala)	CTPS2, S100G (E69A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 980834	GRCh37/hg19 Xp22.2(chrX:16275580-16653847)x3	CTPS2	Copy number gain	not provided	GUncertain significance

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