Related gene-specific medical variations for Gene (Select 9469) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065955	NM_004273.5(CHST3):c.223G>T (p.Ala75Ser)	CHST3 (A75S)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 3065004	NM_004273.5(CHST3):c.911G>C (p.Arg304Pro)	CHST3 (R304P)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely pathogenic
Select item 3064422	NM_004273.5(CHST3):c.808dup (p.Met270fs)	CHST3 (M270fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GUncertain significance
Select item 2428495	NM_004273.5(CHST3):c.431G>A (p.Gly144Asp)	CHST3 (G144D)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely pathogenic
Select item 522996	NM_004273.5(CHST3):c.1312C>T (p.Gln438Ter)	CHST3 (Q438*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 478823	NM_004273.5(CHST3):c.491C>T (p.Pro164Leu)	CHST3 (P164L)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 478822	NM_004273.5(CHST3):c.904G>C (p.Asp302His)	CHST3 (D302H)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 377035	NM_004273.5(CHST3):c.1052C>T (p.Ser351Phe)	CHST3 (S351F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic