ClinVar for MedGen (Select 481972) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1498890	NM_001852.4(COL9A2):c.749G>C (p.Gly250Ala)	COL9A2 (G250A)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GUncertain significance
Select item 1209914	NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg)	COL9A2 (P661R)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GUncertain significance
Select item 1194069	NM_001852.4(COL9A2):c.1506del (p.Asn503fs)	COL9A2 (N503fs)	Deletion (frameshift variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GPathogenic/Likely pathogenic
Select item 1167800	NM_001852.4(COL9A2):c.1604-26CTCC[7]	COL9A2	Microsatellite (intron variant)	not provided +3 more	GBenign
Select item 1007311	NM_001852.4(COL9A2):c.1485del (p.Gly496fs)	COL9A2 (G496fs)	Deletion (frameshift variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GConflicting classifications of pathogenicity
Select item 689606	NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser)	COL9A2 (P413S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 632106	NM_001852.4(COL9A2):c.1242del (p.Gly415fs)	COL9A2 (G415fs)	Deletion (frameshift variant)	Stickler syndrome, type 5 +2 more	GConflicting classifications of pathogenicity
Select item 547939	NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)	COL9A2 (P153L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 417900	NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)	COL9A2 (K687E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297302	NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)	COL9A2 (R375G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 297297	NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)	COL9A2 (Q467R)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +3 more	GConflicting classifications of pathogenicity
Select item 297293	NM_001852.4(COL9A2):c.1732C>G (p.Pro578Ala)	COL9A2 (P578A)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GUncertain significance
Select item 283517	NM_001852.4(COL9A2):c.1219C>A (p.Pro407Thr)	COL9A2 (P407T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 282805	NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)	COL9A2 (G307S)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GUncertain significance
Select item 258380	NM_001852.4(COL9A2):c.1871-8G>T	COL9A2	Single nucleotide variant (intron variant)	Stickler syndrome, type 5 +3 more	GLikely benign
Select item 258371	NM_001852.4(COL9A2):c.1323+18T>G	COL9A2	Single nucleotide variant (intron variant)	Stickler syndrome, type 5 +3 more	GBenign/Likely benign
Select item 196169	NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)	COL9A2 (V526M)	Single nucleotide variant (missense variant)	Stickler syndrome, type 5 +1 more	GConflicting classifications of pathogenicity
Select item 29645	NM_001852.4(COL9A2):c.843_846+4del	COL9A2	Deletion (splice donor variant)	Stickler syndrome, type 5	GPathogenic