"GeneDx"[submitter] AND "CHST3"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 1254668	NM_004273.5(CHST3):c.-107-281T>C	CHST3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252450	NM_004273.5(CHST3):c.140+33T>G	CHST3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223882	NM_004273.5(CHST3):c.140+255A>G	CHST3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 546274	NM_004273.5(CHST3):c.167C>A (p.Pro56His)	CHST3 (P56H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432012	NM_004273.5(CHST3):c.533dup (p.Ala179fs)	CHST3 (A179fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	GPathogenic/Likely pathogenic
Select item 286649	NM_004273.5(CHST3):c.561G>C (p.Val187=)	CHST3	Single nucleotide variant (synonymous variant)	Skeletal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 2136893	NM_004273.5(CHST3):c.661C>T (p.Arg221Cys)	CHST3 (R221C)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	GLikely pathogenic
Select item 1307014	NM_004273.5(CHST3):c.688G>A (p.Glu230Lys)	CHST3 (E230K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more	GConflicting classifications of pathogenicity
Select item 300565	NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys)	CHST3 (E335K)	Single nucleotide variant (missense variant)	Skeletal dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 286657	NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln)	CHST3 (R357Q)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 196377	NM_004273.5(CHST3):c.1173C>A (p.Ile391=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GBenign/Likely benign
Select item 955770	NM_004273.5(CHST3):c.1291dup (p.Ser431fs)	CHST3 (S431fs)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 300568	NM_004273.5(CHST3):c.1428C>T (p.Phe476=)	CHST3	Single nucleotide variant (synonymous variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +4 more	GBenign/Likely benign