"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193218	NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu)	COL9A3 (G17E)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 258422	NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser)	COL9A3 (P94S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 17139	NM_001853.4(COL9A3):c.307C>T (p.Arg103Trp)	COL9A3 (R103W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 197734	NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln)	COL9A3 (R103Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 258424	NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro)	COL9A3 (L137P)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 258426	NM_001853.4(COL9A3):c.520-6C>T	COL9A3	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 3 +4 more	GBenign/Likely benign
Select item 258430	NM_001853.4(COL9A3):c.685-4G>T	COL9A3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 258437	NM_001853.4(COL9A3):c.909G>A (p.Pro303=)	COL9A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 258402	NM_001853.4(COL9A3):c.1008+10C>T	COL9A3	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 3 +2 more	GBenign
Select item 258403	NM_001853.4(COL9A3):c.1008+12G>C	COL9A3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 195872	NM_001853.4(COL9A3):c.1288-5T>C	COL9A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 195873	NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu)	COL9A3 (A435E)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 3 +3 more	GBenign
Select item 258415	NM_001853.4(COL9A3):c.1603+14G>C	COL9A3, LOC126863084	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 258417	NM_001853.4(COL9A3):c.1740T>C (p.Pro580=)	COL9A3	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 3 +2 more	GBenign
Select item 258418	NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr)	COL9A3 (A606T)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GBenign
Select item 258420	NM_001853.4(COL9A3):c.2044C>A (p.Arg682=)	COL9A3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign