ClinVar for MedGen (Select 412530) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663838	NM_001844.5(COL2A1):c.1581+1G>A	COL2A1	Single nucleotide variant (splice donor variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 2443305	NM_001844.5(COL2A1):c.1339G>A (p.Gly447Ser)	COL2A1 (G378S +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GUncertain significance
Select item 2429070	NM_001844.5(COL2A1):c.610-2A>G	COL2A1	Single nucleotide variant (splice acceptor variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 1895438	NM_001844.5(COL2A1):c.1502G>A (p.Gly501Glu)	COL2A1 (G432E +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 1709705	NM_001844.5(COL2A1):c.2104G>A (p.Gly702Ser)	COL2A1 (G633S +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 1679885	NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys)	COL2A1 (R1064C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1422585	NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)	COL2A1 (P505S +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
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 1343392	NM_001844.5(COL2A1):c.2780G>T (p.Gly927Val)	COL2A1 (G858V +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 1326895	NM_001844.5(COL2A1):c.1195G>A (p.Gly399Arg)	COL2A1 (G330R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1326893	NM_001844.5(COL2A1):c.1069G>A (p.Gly357Ser)	COL2A1 (G288S +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 1326892	NM_001844.5(COL2A1):c.980G>T (p.Gly327Val)	COL2A1 (G258V +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 1326886	NM_001844.5(COL2A1):c.4133T>A (p.Leu1378Gln)	COL2A1 (L1309Q +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 1326885	NM_001844.5(COL2A1):c.3950T>G (p.Met1317Arg)	COL2A1 (M1248R +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GUncertain significance
Select item 1326884	NM_001844.5(COL2A1):c.3897G>T (p.Trp1299Cys)	COL2A1 (W1230C +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 1326883	NM_001844.5(COL2A1):c.620G>T (p.Gly207Val)	COL2A1 (G138V +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 1326882	NM_001844.5(COL2A1):c.3589G>C (p.Gly1197Arg)	COL2A1 (G1128R +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +1 more	GPathogenic/Likely pathogenic
Select item 1326880	NM_001844.5(COL2A1):c.3463G>C (p.Gly1155Arg)	COL2A1 (G1086R +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 1326879	NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys)	COL2A1 (G1047C +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 1326878	NM_001844.5(COL2A1):c.2671G>A (p.Gly891Ser)	COL2A1 (G822S +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 1326877	NM_001844.5(COL2A1):c.2095G>T (p.Gly699Cys)	COL2A1 (G630C +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 1326876	NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg)	COL2A1 (G525R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1202957	NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro)	COL2A1 (R491P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1013617	NM_001205.3(BNIP1):c.84+3A>T	BNIP1	Single nucleotide variant (intron variant)	Spondyloepiphyseal dysplasia congenita	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 997991	NM_001844.5(COL2A1):c.2860G>A (p.Gly954Ser)	COL2A1 (G885S +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 993615	NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val)	COL2A1 (G282V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 984941	NM_001844.5(COL2A1):c.3442_3444del (p.Ser1148del)	COL2A1 (S1079del +1 more)	Deletion (inframe_deletion)	COL2A1-related skeletal dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 978480	NM_001844.5(COL2A1):c.3553G>C (p.Gly1185Arg)	COL2A1 (G1116R +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
Select item 974866	NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp)	COL2A1 (G417D +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +1 more	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 873513	NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser)	COL2A1 (G600S +1 more)	Single nucleotide variant (missense variant)	COL2A1-related disorders +3 more	GPathogenic/Likely 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 627589	NM_001844.5(COL2A1):c.2024G>A (p.Gly675Asp)	COL2A1 (G675D +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +1 more	GPathogenic
Select item 597508	NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg)	COL2A1 (C1485R +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita +1 more	GConflicting classifications of pathogenicity
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 547251	NM_001844.5(COL2A1):c.1114G>A (p.Gly372Arg)	COL2A1 (G372R +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GPathogenic
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 specified +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 426498	NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg)	COL2A1 (G369R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 367993	NM_001011658.4(TRAPPC2):c.*263dup	TRAPPC2	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 367992	NM_001011658.4(TRAPPC2):c.266_267insT	TRAPPC2	Insertion (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita	GUncertain significance
Select item 367978	NM_001011658.4(TRAPPC2):c.956_957insTTTTTTTT	TRAPPC2	Insertion (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita	GBenign
Select item 367977	NM_001011658.4(TRAPPC2):c.950_956dup	TRAPPC2	Duplication (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita	GUncertain significance
Select item 367976	NM_001011658.4(TRAPPC2):c.*956dup	TRAPPC2	Duplication (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita	GUncertain significance
Select item 367975	NM_001011658.4(TRAPPC2):c.957_958insTTTTTTT	TRAPPC2	Insertion (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita	GUncertain significance
Select item 367970	NM_001011658.4(TRAPPC2):c.*1303del	TRAPPC2	Deletion (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita	GBenign
Select item 367967	NM_001011658.4(TRAPPC2):c.*1848dup	TRAPPC2	Duplication (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita	GLikely benign
Select item 367964	NM_001011658.4(TRAPPC2):c.*2104TG[4]	TRAPPC2	Microsatellite (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita	GBenign
Select item 308931	NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	COL2A1 (P268L +1 more)	Single nucleotide variant (missense variant)	not provided +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 300685	NM_004273.5(CHST3):c.*4884C>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300684	NM_004273.5(CHST3):c.*4869G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300683	NM_004273.5(CHST3):c.*4865C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GUncertain significance
Select item 300682	NM_004273.5(CHST3):c.*4821G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300681	NM_004273.5(CHST3):c.*4820C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300680	NM_004273.5(CHST3):c.*4785G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GBenign
Select item 300679	NM_004273.5(CHST3):c.*4770G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita +3 more	GLikely benign
Select item 300678	NM_004273.5(CHST3):c.*4628A>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300677	NM_004273.5(CHST3):c.*4609G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300676	NM_004273.5(CHST3):c.*4534G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GUncertain significance
Select item 300675	NM_004273.5(CHST3):c.*4533C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GBenign
Select item 300674	NM_004273.5(CHST3):c.*4498A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300673	NM_004273.5(CHST3):c.*4495G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300672	NM_004273.5(CHST3):c.*4450G>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita +3 more	GUncertain significance
Select item 300671	NM_004273.5(CHST3):c.*4432T>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GBenign
Select item 300670	NM_004273.5(CHST3):c.*4421G>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GBenign
Select item 300669	NM_004273.5(CHST3):c.*4409C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300668	NM_004273.5(CHST3):c.*4341C>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita +3 more	GUncertain significance
Select item 300667	NM_004273.5(CHST3):c.*4336A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300666	NM_004273.5(CHST3):c.*4210T>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GUncertain significance
Select item 300665	NM_004273.5(CHST3):c.*4162A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GUncertain significance
Select item 300664	NM_004273.5(CHST3):c.*4107T>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GBenign
Select item 300663	NM_004273.5(CHST3):c.*4095A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300662	NM_004273.5(CHST3):c.*4049C>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300661	NM_004273.5(CHST3):c.*3987G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GBenign
Select item 300660	NM_004273.5(CHST3):c.*3932G>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GBenign
Select item 300659	NM_004273.5(CHST3):c.*3905C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GUncertain significance
Select item 300658	NM_004273.5(CHST3):c.*3890C>T	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300657	NM_004273.5(CHST3):c.*3884A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300656	NM_004273.5(CHST3):c.*3857G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GUncertain significance
Select item 300655	NM_004273.5(CHST3):c.*3785G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Larsen syndrome +3 more	GBenign
Select item 300654	NM_004273.5(CHST3):c.*3701AG[1]	CHST3	Microsatellite (3 prime UTR variant)	Larsen syndrome +3 more	GLikely benign
Select item 300653	NM_004273.5(CHST3):c.*3666G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GLikely benign
Select item 300652	NM_004273.5(CHST3):c.*3571T>C	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300651	NM_004273.5(CHST3):c.*3565A>G	CHST3	Single nucleotide variant (3 prime UTR variant)	Skeletal dysplasia +3 more	GUncertain significance
Select item 300650	NM_004273.5(CHST3):c.*3555G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GLikely benign
Select item 300649	NM_004273.5(CHST3):c.*3477G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more	GBenign
Select item 300648	NM_004273.5(CHST3):c.*3445G>A	CHST3	Single nucleotide variant (3 prime UTR variant)	Spondyloepiphyseal dysplasia congenita +3 more	GUncertain significance

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