ClinVar for OMIM (Select 108300) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068671	NM_001844.5(COL2A1):c.924+2T>A	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1	GUncertain significance
Select item 3068651	NM_001844.5(COL2A1):c.1527+1G>C	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 3068460	NM_001844.5(COL2A1):c.3436-3C>A	COL2A1	Single nucleotide variant (intron variant)	Stickler syndrome type 1	GUncertain significance
Select item 3068236	NM_001844.5(COL2A1):c.989G>A (p.Gly330Asp)	COL2A1 (G261D +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1	GUncertain significance
Select item 3068137	NM_001844.5(COL2A1):c.1372C>G (p.Pro458Ala)	COL2A1 (P389A +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1	GUncertain significance
Select item 2627375	NM_001844.5(COL2A1):c.655-2A>G	COL2A1	Single nucleotide variant (splice acceptor variant)	Stickler syndrome type 1	GPathogenic
Select item 2573019	NM_001844.5(COL2A1):c.1528-2del	COL2A1	Deletion (splice acceptor variant)	Stickler syndrome type 1	GPathogenic
Select item 2572519	NM_001844.5(COL2A1):c.575del (p.Gly192fs)	COL2A1 (G123fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 2506457	NM_001844.5(COL2A1):c.3363dup (p.Gly1122fs)	COL2A1 (G1053fs +1 more)	Duplication (frameshift variant)	Stickler syndrome type 1	GPathogenic
Select item 2446375	NM_001844.5(COL2A1):c.1802_1833+55del	COL2A1	Deletion (splice donor variant)	Stickler syndrome type 1	GPathogenic
Select item 2446374	NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC	COL2A1	Indel (intron variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 2443308	NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1])	COL2A1	Deletion (inframe_deletion)	Stickler syndrome type 1	GLikely pathogenic
Select item 2130008	NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)	COL2A1 (G720S +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2021434	NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)	COL2A1 (Q152* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1805386	NM_001844.5(COL2A1):c.2625+2T>C	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1805331	NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)	COL2A1 (G351* +1 more)	Single nucleotide variant (nonsense)	Stickler syndrome type 1	GPathogenic
Select item 1805298	NM_001844.5(COL2A1):c.512del (p.Gly171fs)	COL2A1 (G102fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GPathogenic
Select item 1805273	NM_001844.5(COL2A1):c.925-1G>A	COL2A1	Single nucleotide variant (splice acceptor variant)	Stickler syndrome type 1	GPathogenic
Select item 1805230	NM_001844.5(COL2A1):c.2920del (p.Gln974fs)	COL2A1 (Q905fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GPathogenic
Select item 1805217	NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)	COL2A1 (E397* +1 more)	Single nucleotide variant (nonsense)	Stickler syndrome type 1	GPathogenic
Select item 1710259	NM_001844.5(COL2A1):c.293-2A>T	COL2A1	Single nucleotide variant (splice acceptor variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1710056	NM_001844.5(COL2A1):c.1064del (p.Pro355fs)	COL2A1 (P286fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1709946	NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter)	COL2A1 (E130* +1 more)	Single nucleotide variant (nonsense)	Stickler syndrome type 1	GLikely pathogenic
Select item 1709860	NM_001844.5(COL2A1):c.429+2T>G	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1709832	NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter)	COL2A1 (Q587* +1 more)	Single nucleotide variant (nonsense)	Stickler syndrome type 1	GLikely pathogenic
Select item 1708998	NM_001844.5(COL2A1):c.3435+4_3435+7del	COL2A1	Deletion (splice donor variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1707640	NM_001844.5(COL2A1):c.2895+1G>C	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1	GPathogenic
Select item 1707475	NM_001844.5(COL2A1):c.4085del (p.Gly1362fs)	COL2A1 (G1293fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GPathogenic
Select item 1705352	NM_001844.5(COL2A1):c.610-2A>T	COL2A1	Single nucleotide variant (splice acceptor variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1699396	NM_001844.5(COL2A1):c.569del (p.Lys190fs)	COL2A1 (K121fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GPathogenic
Select item 1687304	NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs)	COL2A1 (P721fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1685653	NM_001844.5(COL2A1):c.737G>T (p.Gly246Val)	COL2A1 (G177V +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1	GPathogenic
Select item 1685652	NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg)	COL2A1 (G429R +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1	GPathogenic
Select item 1685650	NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)	COL2A1 (Y1322H +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1	GPathogenic
Select item 1685276	NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu)	COL2A1 (G426E +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1685275	NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp)	COL2A1 (G480D +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1685274	NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del)	COL2A1	Deletion (inframe_deletion)	Stickler syndrome type 1	GLikely pathogenic
Select item 1685273	NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp)	COL2A1 (G771D +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1	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 1483186	NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu)	COL2A1 (G801E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1454288	NM_001844.5(COL2A1):c.2219del (p.Pro740fs)	COL2A1 (P740fs +1 more)	Deletion (frameshift variant)	not provided +1 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 1388704	NM_001844.5(COL2A1):c.3655G>A (p.Asp1219Asn)	COL2A1 (D1150N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1343103	NM_032603.5(LOXL3):c.1036C>T (p.Arg346Trp)	LOXL3 (R201W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334729	NM_001844.5(COL2A1):c.2625+1del	COL2A1	Deletion (splice donor variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1334674	NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter)	COL2A1 (Q1025* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1333876	NM_001844.5(COL2A1):c.2719C>T (p.Pro907Ser)	COL2A1 (P838S +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1	GUncertain significance
Select item 1326889	NM_001844.5(COL2A1):c.4074+1G>A	COL2A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1326887	NM_001844.5(COL2A1):c.4317+1G>T	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1	GPathogenic
Select item 1326874	NM_001844.5(COL2A1):c.654+4dup	COL2A1	Duplication (intron variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1300141	NM_001844.5(COL2A1):c.1887+1G>A	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1	GPathogenic
Select item 1299554	NM_001844.5(COL2A1):c.1058_1068dup (p.Gly357fs)	COL2A1 (G288fs +1 more)	Duplication (frameshift variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1213981	NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)	COL2A1 (W1230* +1 more)	Single nucleotide variant (nonsense)	COL2A1-related condition +2 more	GPathogenic
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 1199416	NM_001844.5(COL2A1):c.2594del (p.Pro865fs)	COL2A1 (P796fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1199414	NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)	COL2A1 (G540V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1199413	NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)	COL2A1 (G753S +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 1185064	NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2])	COL2A1	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 1185019	NM_001844.5(COL2A1):c.610-17_617del	COL2A1	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1172708	NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs)	COL2A1 (E1021fs +1 more)	Indel (frameshift variant)	Stickler syndrome type 1	GPathogenic
Select item 1137831	NM_001844.5(COL2A1):c.147G>A (p.Pro49=)	COL2A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
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 1072940	NM_001844.5(COL2A1):c.2094+1G>C	COL2A1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1070315	NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)	COL2A1 (G1095S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1066127	NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser)	COL2A1 (G867S +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1032007	NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)	COL2A1 (G615C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 988569	NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)	COL2A1 (G618S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 988535	NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 988096	NM_001844.5(COL2A1):c.3165+2_3166-84del	COL2A1	Deletion (splice donor variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 966427	NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)	COL2A1 (A826fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 964671	NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu)	COL2A1 (D1165E +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +1 more	GUncertain significance
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 883689	NM_001844.5(COL2A1):c.711T>A (p.Gly237=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 883688	NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)	COL2A1 (P191S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 883499	NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 883498	NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)	COL2A1 (Y1238S +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +3 more	GConflicting classifications of pathogenicity
Select item 883404	NM_001844.5(COL2A1):c.*331G>A	COL2A1	Single nucleotide variant (3 prime UTR variant)	Stickler syndrome type 1 +1 more	GUncertain significance
Select item 883403	NM_001844.5(COL2A1):c.*373G>C	COL2A1	Single nucleotide variant (3 prime UTR variant)	Stickler syndrome type 1 +1 more	GUncertain significance
Select item 882943	NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg)	COL2A1 (G102R +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 882890	NM_001844.5(COL2A1):c.924+14A>C	COL2A1	Single nucleotide variant (intron variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 882808	NM_001844.5(COL2A1):c.2410-13T>G	COL2A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882674	NM_001844.5(COL2A1):c.4317+9G>C	COL2A1	Single nucleotide variant (intron variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 882673	NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)	COL2A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 881793	NM_001844.5(COL2A1):c.512G>T (p.Gly171Val)	COL2A1 (G102V +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +2 more	GUncertain significance
Select item 881739	NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)	COL2A1 (T380A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 881694	NM_001844.5(COL2A1):c.1995+5G>A	COL2A1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 881648	NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile)	COL2A1 (T878I +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +1 more	GUncertain significance
Select item 881602	NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)	COL2A1 (A1034G +1 more)	Single nucleotide variant (missense variant)	Type II Collagenopathies +3 more	GConflicting classifications of pathogenicity
Select item 881561	NM_001844.5(COL2A1):c.4074+12G>T	COL2A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 881508	NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)	COL2A1 (P1483L +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome type 1 +2 more	GConflicting classifications of pathogenicity

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