ClinVar for MedGen (Select 333092) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065674	NM_001852.4(COL9A2):c.1162G>A (p.Gly388Ser)	COL9A2 (G388S)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2	GLikely pathogenic
Select item 1683581	NM_001852.4(COL9A2):c.1009-2A>C	COL9A2	Single nucleotide variant (splice acceptor variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
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 1341527	NM_001852.4(COL9A2):c.1342G>A (p.Gly448Ser)	COL9A2 (G448S)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 1320223	NM_001852.4(COL9A2):c.1107+1G>T	COL9A2	Single nucleotide variant (splice donor variant)	Epiphyseal dysplasia, multiple, 2	GLikely pathogenic
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 982740	NM_001852.4(COL9A2):c.1242dup (p.Gly415fs)	COL9A2 (G415fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 931612	NM_001852.4(COL9A2):c.1555G>C (p.Asp519His)	COL9A2 (D519H)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 876392	NM_001852.4(COL9A2):c.88G>A (p.Gly30Arg)	COL9A2, LOC129930261 (G30R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 876391	NM_001852.4(COL9A2):c.142G>C (p.Gly48Arg)	COL9A2 (G48R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 876390	NM_001852.4(COL9A2):c.185C>T (p.Pro62Leu)	COL9A2 (P62L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 876358	NM_001852.4(COL9A2):c.1009-12T>G	COL9A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 876311	NM_001852.4(COL9A2):c.2036G>A (p.Arg679His)	COL9A2 (R679H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 876270	NM_001852.4(COL9A2):c.300C>T (p.Val100=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 876173	NM_001852.4(COL9A2):c.*38G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 876172	NM_001852.4(COL9A2):c.*111C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GBenign
Select item 876171	NM_001852.4(COL9A2):c.*263C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GBenign
Select item 875313	NM_001852.4(COL9A2):c.417+12C>T	COL9A2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875312	NM_001852.4(COL9A2):c.472-10C>A	COL9A2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875263	NM_001852.4(COL9A2):c.1282G>C (p.Asp428His)	COL9A2 (D428H)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GUncertain significance
Select item 875262	NM_001852.4(COL9A2):c.1474C>A (p.Pro492Thr)	COL9A2 (P492T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 875214	NM_001852.4(COL9A2):c.*369C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 875213	NM_001852.4(COL9A2):c.*405G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 874401	NM_001852.4(COL9A2):c.820G>A (p.Gly274Ser)	COL9A2 (G274S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 874400	NM_001852.4(COL9A2):c.847-9G>A	COL9A2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 874399	NM_001852.4(COL9A2):c.900G>C (p.Thr300=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 874398	NM_001852.4(COL9A2):c.927T>G (p.Asp309Glu)	COL9A2 (D309E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 874336	NM_001852.4(COL9A2):c.1753G>T (p.Val585Leu)	COL9A2 (V585L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 874335	NM_001852.4(COL9A2):c.1781C>T (p.Thr594Met)	COL9A2 (T594M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 874278	NM_001852.4(COL9A2):c.*561A>G	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GLikely benign
Select item 804594	NM_001852.4(COL9A2):c.629C>T (p.Pro210Leu)	COL9A2 (P210L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 740959	NM_001852.4(COL9A2):c.151-8T>C	COL9A2	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GBenign/Likely benign
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 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 498500	NM_001852.4(COL9A2):c.846+10C>T	COL9A2	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GConflicting classifications of pathogenicity
Select item 451814	NM_001852.4(COL9A2):c.232G>A (p.Gly78Arg)	COL9A2 (G78R)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GUncertain significance
Select item 427128	NM_001852.4(COL9A2):c.186G>A (p.Pro62=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided	GPathogenic/Likely pathogenic
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 297314	NM_001852.4(COL9A2):c.-43G>A	COL9A2	Single nucleotide variant (5 prime UTR variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GLikely benign
Select item 297313	NM_001852.4(COL9A2):c.-27C>A	COL9A2	Single nucleotide variant (5 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297312	NM_001852.4(COL9A2):c.230A>C (p.Asp77Ala)	COL9A2 (D77A)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GConflicting classifications of pathogenicity
Select item 297311	NM_001852.4(COL9A2):c.250-7T>C	COL9A2	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GBenign/Likely benign
Select item 297310	NM_001852.4(COL9A2):c.304-13G>A	COL9A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 297309	NM_001852.4(COL9A2):c.370C>G (p.Pro124Ala)	COL9A2 (P124A)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297308	NM_001852.4(COL9A2):c.407G>A (p.Arg136Gln)	COL9A2 (R136Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 297307	NM_001852.4(COL9A2):c.741C>A (p.Gly247=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GConflicting classifications of pathogenicity
Select item 297306	NM_001852.4(COL9A2):c.905C>T (p.Pro302Leu)	COL9A2 (P302L)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GConflicting classifications of pathogenicity
Select item 297305	NM_001852.4(COL9A2):c.942G>A (p.Thr314=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GConflicting classifications of pathogenicity
Select item 297304	NM_001852.4(COL9A2):c.1053+7C>T	COL9A2	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 2 +2 more	GBenign
Select item 297303	NM_001852.4(COL9A2):c.1054-15A>G	COL9A2	Single nucleotide variant (intron variant)	Epiphyseal dysplasia, multiple, 2 +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 297301	NM_001852.4(COL9A2):c.1124G>T (p.Arg375Leu)	COL9A2 (R375L)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GUncertain significance
Select item 297300	NM_001852.4(COL9A2):c.1162-7A>G	COL9A2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 297299	NM_001852.4(COL9A2):c.1162-3C>T	COL9A2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297298	NM_001852.4(COL9A2):c.1323+14C>A	COL9A2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 297296	NM_001852.4(COL9A2):c.1535G>A (p.Arg512Lys)	COL9A2 (R512K)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297295	NM_001852.4(COL9A2):c.1599G>T (p.Leu533=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GConflicting classifications of pathogenicity
Select item 297294	NM_001852.4(COL9A2):c.1609C>T (p.Leu537=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +1 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 297292	NM_001852.4(COL9A2):c.1824A>G (p.Glu608=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +3 more	GLikely benign
Select item 297291	NM_001852.4(COL9A2):c.1834G>A (p.Gly612Arg)	COL9A2 (G612R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 297290	NM_001852.4(COL9A2):c.1870+9T>C	COL9A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 297289	NM_001852.4(COL9A2):c.*67A>G	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GUncertain significance
Select item 297288	NM_001852.4(COL9A2):c.*122T>C	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GBenign
Select item 297287	NM_001852.4(COL9A2):c.*230C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297286	NM_001852.4(COL9A2):c.*236G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GBenign
Select item 297285	NM_001852.4(COL9A2):c.*312T>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297284	NM_001852.4(COL9A2):c.*322G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297283	NM_001852.4(COL9A2):c.*370G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297282	NM_001852.4(COL9A2):c.*386C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297281	NM_001852.4(COL9A2):c.*443C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 297280	NM_001852.4(COL9A2):c.*543G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GBenign
Select item 297279	NM_001852.4(COL9A2):c.*578C>T	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GBenign
Select item 297278	NM_001852.4(COL9A2):c.*683G>A	COL9A2	Single nucleotide variant (3 prime UTR variant)	Epiphyseal dysplasia, multiple, 2	GUncertain significance
Select item 291230	NM_001852.4(COL9A2):c.2058C>T (p.Ile686=)	COL9A2	Single nucleotide variant (synonymous variant)	Epiphyseal dysplasia, multiple, 2 +1 more	GConflicting classifications of pathogenicity
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 258399	NM_001852.4(COL9A2):c.977A>G (p.Gln326Arg)	COL9A2 (Q326R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 258398	NM_001852.4(COL9A2):c.976C>T (p.Gln326Ter)	COL9A2 (Q326*)	Single nucleotide variant (nonsense)	not specified +2 more	GBenign/Likely benign
Select item 258397	NM_001852.4(COL9A2):c.955-4C>G	COL9A2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 258394	NM_001852.4(COL9A2):c.738+10T>C	COL9A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 258393	NM_001852.4(COL9A2):c.737C>T (p.Thr246Met)	COL9A2 (T246M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 258392	NM_001852.4(COL9A2):c.630+13G>T	COL9A2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 258391	NM_001852.4(COL9A2):c.544A>G (p.Met182Val)	COL9A2 (M182V)	Single nucleotide variant (missense variant)	Epiphyseal dysplasia, multiple, 2 +3 more	GBenign/Likely benign
Select item 258389	NM_001852.4(COL9A2):c.364-8C>T	COL9A2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 258386	NM_001852.4(COL9A2):c.304-14C>T	COL9A2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 258383	NM_001852.4(COL9A2):c.2001C>T (p.Ala667=)	COL9A2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 258382	NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr)	COL9A2 (P661T)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 258381	NM_001852.4(COL9A2):c.1902C>T (p.Asn634=)	COL9A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 258373	NM_001852.4(COL9A2):c.1368+12G>A	COL9A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 258370	NM_001852.4(COL9A2):c.1288-12C>T	COL9A2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 258369	NM_001852.4(COL9A2):c.1188G>A (p.Val396=)	COL9A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 258367	NM_001852.4(COL9A2):c.1161+10T>A	COL9A2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 258365	NM_001852.4(COL9A2):c.1062G>A (p.Pro354=)	COL9A2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

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