ClinVar for MedGen (Select 163223) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672268	NM_001844.5(COL2A1):c.3180_3188del (p.Glu1060_Ala1063delinsAsp)	COL2A1	Deletion (inframe_indel)	Spondyloperipheral dysplasia	GUncertain significance
Select item 1708151	NM_001844.5(COL2A1):c.3463G>A (p.Gly1155Ser)	COL2A1 (G1086S +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia	GPathogenic
Select item 1708062	NM_001844.5(COL2A1):c.2581G>C (p.Gly861Arg)	COL2A1 (G792R +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia	GLikely pathogenic
Select item 1705640	NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln)	COL2A1 (R140Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1676793	NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser)	COL2A1 (G456S +1 more)	Single nucleotide variant (missense variant)	Kniest dysplasia +5 more	GLikely pathogenic
Select item 1675238	NM_001844.5(COL2A1):c.3111+5G>A	COL2A1	Single nucleotide variant (intron variant)	Achondrogenesis type II +16 more	GUncertain significance
Select item 1619302	NM_001844.5(COL2A1):c.2734-18C>T	COL2A1	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia congenita +16 more	GLikely benign
Select item 1524681	NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)	COL2A1 (R863Q +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, Stanescu type +16 more	GConflicting classifications of pathogenicity
Select item 1455692	NM_001844.5(COL2A1):c.2858del (p.Pro953fs)	COL2A1 (P884fs +1 more)	Deletion (frameshift variant)	Legg-Calve-Perthes disease +16 more	GPathogenic
Select item 1386179	NM_001844.5(COL2A1):c.1757G>A (p.Arg586His)	COL2A1 (R586H +1 more)	Single nucleotide variant (missense variant)	Legg-Calve-Perthes disease +16 more	GConflicting classifications of pathogenicity
Select item 1339718	NM_001844.5(COL2A1):c.3887-2A>G	COL2A1	Single nucleotide variant (splice acceptor variant)	Spondyloperipheral dysplasia	GLikely pathogenic
Select item 1333272	NM_001844.5(COL2A1):c.754G>A (p.Gly252Ser)	COL2A1 (G183S +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia	GUncertain significance
Select item 1326894	NM_001844.5(COL2A1):c.1090G>T (p.Gly364Cys)	COL2A1 (G295C +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia	GLikely pathogenic
Select item 1326888	NM_001844.5(COL2A1):c.817-1G>A	COL2A1	Single nucleotide variant (splice acceptor variant)	Spondyloperipheral dysplasia	GPathogenic
Select item 1319915	NM_001844.5(COL2A1):c.2522C>T (p.Ala841Val)	COL2A1 (A772V +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia	GUncertain significance
Select item 1299619	NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser)	COL2A1 (G1409S +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1299501	NM_001844.5(COL2A1):c.1023+2T>A	COL2A1	Single nucleotide variant (splice donor variant)	Spondyloperipheral dysplasia	GPathogenic
Select item 1186037	NM_001844.5(COL2A1):c.446G>A (p.Arg149His)	COL2A1 (R149H +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 1135907	NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=)	COL2A1	Single nucleotide variant (synonymous variant)	Legg-Calve-Perthes disease +16 more	GLikely benign
Select item 1125241	NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)	COL2A1	Single nucleotide variant (synonymous variant)	Legg-Calve-Perthes disease +17 more	GLikely benign
Select item 1110328	NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)	COL2A1	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia, Beighton type +16 more	GLikely benign
Select item 1106196	NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +16 more	GLikely benign
Select item 1068151	NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser)	COL2A1 (G861S +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +1 more	GLikely pathogenic
Select item 1065456	NM_001844.5(COL2A1):c.1331G>A (p.Gly444Asp)	COL2A1 (G375D +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia	GLikely pathogenic
Select item 1020209	NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys)	COL2A1 (E1003K +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GUncertain significance
Select item 1003871	NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr)	COL2A1 (A284T +1 more)	Single nucleotide variant (missense variant)	Legg-Calve-Perthes disease +17 more	GConflicting classifications of pathogenicity
Select item 998034	NM_001844.5(COL2A1):c.1393G>A (p.Gly465Ser)	COL2A1 (G396S +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia	GLikely pathogenic
Select item 938269	NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys)	COL2A1 (E619K +1 more)	Single nucleotide variant (missense variant)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 829877	NM_001844.5(COL2A1):c.3436-2A>G	COL2A1	Single nucleotide variant (splice acceptor variant)	Spondyloperipheral dysplasia	GLikely pathogenic
Select item 734396	NM_001844.5(COL2A1):c.312A>G (p.Gly104=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +16 more	GLikely benign
Select item 547841	NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val)	COL2A1 (G873V +1 more)	Single nucleotide variant (missense variant)	Avascular necrosis of femoral head, primary, 1 +15 more	GUncertain significance
Select item 516324	NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=)	COL2A1	Single nucleotide variant (synonymous variant)	Achondrogenesis type II +19 more	GBenign/Likely benign
Select item 516232	NM_001844.5(COL2A1):c.2160C>A (p.Gly720=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +18 more	GBenign/Likely benign
Select item 513411	NM_001844.5(COL2A1):c.870+11C>T	COL2A1	Single nucleotide variant (intron variant)	Achondrogenesis type II +17 more	GBenign/Likely benign
Select item 449001	NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)	COL2A1 (A302V +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +18 more	GPathogenic/Likely pathogenic
Select item 308931	NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	COL2A1 (P268L +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +16 more	GConflicting classifications of pathogenicity
Select item 308920	NM_001844.5(COL2A1):c.2095-4G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +19 more	GBenign/Likely benign
Select item 288221	NM_001844.5(COL2A1):c.2638G>A (p.Val880Met)	COL2A1 (V880M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286275	NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)	COL2A1 (G1104E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 258220	NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile)	COL2A1 (T638I +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +19 more	GBenign/Likely benign
Select item 258211	NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)	COL2A1	Single nucleotide variant (synonymous variant)	Spondylometaphyseal dysplasia - Sutcliffe type +19 more	GBenign/Likely benign
Select item 258208	NM_001844.5(COL2A1):c.1266+7G>A	COL2A1	Single nucleotide variant (intron variant)	not specified +19 more	GBenign/Likely benign
Select item 195742	NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)	COL2A1 (G504S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 195148	NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	COL2A1 (C86*)	Single nucleotide variant (nonsense +1 more)	Achondrogenesis type II +14 more	GPathogenic
Select item 166926	NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)	COL2A1	Single nucleotide variant (synonymous variant)	COL2A1-related condition +20 more	GBenign/Likely benign
Select item 17395	NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	COL2A1 (R584* +1 more)	Single nucleotide variant (nonsense)	Achondrogenesis type II +14 more	GPathogenic
Select item 17392	NM_001844.5(COL2A1):c.4314C>A (p.Cys1438Ter)	COL2A1 (C1438* +1 more)	Single nucleotide variant (nonsense)	Spondyloperipheral dysplasia	GPathogenic
Select item 17391	NM_001844.5(COL2A1):c.4337del (p.Gly1446fs)	COL2A1 (G1377fs +1 more)	Deletion (frameshift variant)	Stickler syndrome, type I, nonsyndromic ocular	GUncertain significance
Select item 17389	NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys)	COL2A1 (Y1391C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 17385	NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met)	COL2A1 (T1370M +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 17380	NM_001844.5(COL2A1):c.4287_4291dup (p.Tyr1431fs)	COL2A1 (Y1362fs +1 more)	Duplication (frameshift variant)	Spondyloperipheral dysplasia	GPathogenic
Select item 17366	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	COL2A1 (R920C +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +14 more	GPathogenic/Likely pathogenic
Select item 17361	NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	COL2A1 (G1128S +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Strudwick type +7 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 53