"Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1471445	NM_004273.5(CHST3):c.430G>A (p.Gly144Ser)	CHST3 (G144S)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GConflicting classifications of pathogenicity
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 1679884	NM_004273.5(CHST3):c.500A>G (p.His167Arg)	CHST3 (H167R)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	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 1679894	NM_004273.5(CHST3):c.768C>G (p.Asn256Lys)	CHST3 (N256K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely pathogenic
Select item 3061778	NM_004273.5(CHST3):c.857T>A (p.Leu286Gln)	CHST3 (L286Q)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely pathogenic
Select item 2428494	NM_004273.5(CHST3):c.976dup (p.Asp326fs)	CHST3 (D326fs)	Duplication (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 1332850	NM_004273.5(CHST3):c.1165G>C (p.Ala389Pro)	CHST3 (A389P)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GLikely pathogenic