ClinVar for MedGen (Select 810955) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3893185	NM_001844.5(COL2A1):c.4075-2A>C	COL2A1	Single nucleotide variant (splice acceptor variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 3574634	NM_001844.5(COL2A1):c.917_918delinsA (p.Gly306fs)	COL2A1 (G306fs +1 more)	Indel (frameshift variant)	Legg-Calve-Perthes disease +14 more	GLikely pathogenic
Select item 3574633	NM_001844.5(COL2A1):c.1365+3A>C	COL2A1	Single nucleotide variant (intron variant)	Legg-Calve-Perthes disease +14 more	GLikely pathogenic
Select item 3574632	NM_001844.5(COL2A1):c.1529G>T (p.Gly510Val)	COL2A1 (G510V +1 more)	Single nucleotide variant (missense variant)	Legg-Calve-Perthes disease +14 more	GLikely pathogenic
Select item 3574631	NM_001844.5(COL2A1):c.1693C>G (p.Arg565Gly)	COL2A1 (R565G +1 more)	Single nucleotide variant (missense variant)	Legg-Calve-Perthes disease +14 more	GUncertain significance
Select item 3574629	NM_001844.5(COL2A1):c.4168A>C (p.Thr1390Pro)	COL2A1 (T1321P +1 more)	Single nucleotide variant (missense variant)	Legg-Calve-Perthes disease +14 more	GUncertain significance
Select item 3382798	NM_001844.5(COL2A1):c.3040G>A (p.Gly1014Arg)	COL2A1 (G1014R +1 more)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Beighton type +14 more	GPathogenic
Select item 3382621	NM_001844.5(COL2A1):c.1527+2T>A	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 3382404	NM_001844.5(COL2A1):c.3679_3680insAA (p.Gly1227fs)	COL2A1 (G1158fs +1 more)	Insertion (frameshift variant)	Multiple epiphyseal dysplasia, Beighton type +14 more	GLikely pathogenic
Select item 3382294	NM_001844.5(COL2A1):c.3293G>A (p.Gly1098Glu)	COL2A1 (G1029E +1 more)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Beighton type +14 more	GLikely pathogenic
Select item 3382056	NM_001844.5(COL2A1):c.2771G>A (p.Gly924Glu)	COL2A1 (G855E +1 more)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Beighton type +14 more	GLikely pathogenic
Select item 3370358	NM_001844.5(COL2A1):c.2895+1G>T	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1	GPathogenic
Select item 3242025	NM_001844.5(COL2A1):c.26C>G (p.Thr9Arg)	COL2A1 (T9R)	Single nucleotide variant (missense variant)	Stickler syndrome type 1	GUncertain significance
Select item 3238773	NM_001844.5(COL2A1):c.3484_3485del (p.Gly1161_Pro1162insTer)	COL2A1	Deletion (nonsense)	Stickler syndrome type 1	GPathogenic
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 2859637	NM_001844.5(COL2A1):c.3085G>T (p.Gly1029Cys)	COL2A1 (G1029C +1 more)	Single nucleotide variant (missense variant)	not provided +15 more	GPathogenic/Likely pathogenic
Select item 2631370	NM_001844.5(COL2A1):c.309+1G>A	COL2A1	Single nucleotide variant (splice donor variant)	Stickler syndrome type 1 +1 more	GPathogenic/Likely pathogenic
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 2131579	NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser)	COL2A1 (G642S +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +15 more	GPathogenic/Likely 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 1810633	NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn)	COL2A1 (K1084N +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +16 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)	not provided +1 more	GPathogenic/Likely 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)	Stickler syndrome type 1 +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 +1 more	GPathogenic/Likely 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)	not provided +16 more	GUncertain significance
Select item 1619302	NM_001844.5(COL2A1):c.2734-18C>T	COL2A1	Single nucleotide variant (intron variant)	Achondrogenesis type II +16 more	GLikely benign
Select item 1580872	NM_001844.5(COL2A1):c.972T>C (p.Gly324=)	COL2A1	Single nucleotide variant (synonymous variant)	Stickler syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1524681	NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln)	COL2A1 (R863Q +1 more)	Single nucleotide variant (missense variant)	not provided +17 more	GConflicting classifications of pathogenicity
Select item 1516689	NM_001844.5(COL2A1):c.1618G>A (p.Gly540Ser)	COL2A1 (G471S +1 more)	Single nucleotide variant (missense variant)	not provided +15 more	GLikely pathogenic
Select item 1512633	NM_001844.5(COL2A1):c.3436-1G>A	COL2A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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)	not provided +16 more	GPathogenic
Select item 1454288	NM_001844.5(COL2A1):c.2219del (p.Pro740fs)	COL2A1 (P740fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1 +1 more	GPathogenic
Select item 1422585	NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)	COL2A1 (P505S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1418604	NM_001844.5(COL2A1):c.2308G>A (p.Val770Ile)	COL2A1 (V701I +1 more)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia, Beighton type +15 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)	not provided +16 more	GConflicting classifications of pathogenicity
Select item 1378135	NM_001844.5(COL2A1):c.725G>A (p.Arg242His)	COL2A1 (R242H +1 more)	Single nucleotide variant (missense variant)	not provided +15 more	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)	Stickler syndrome type 1 +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 1315469	NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser)	COL2A1 (P853S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1224342	NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser)	COL2A1 (G1041S +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +16 more	GPathogenic
Select item 1213981	NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)	COL2A1 (W1230* +1 more)	Single nucleotide variant (nonsense)	COL2A1-related disorder +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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1185064	NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2])	COL2A1	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 1185019	NM_001844.5(COL2A1):c.610-17_617del	COL2A1	Deletion (splice acceptor variant)	Stickler syndrome type 1 +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)	Stickler syndrome type 1 +1 more	GBenign/Likely benign
Select item 1135907	NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=)	COL2A1	Single nucleotide variant (synonymous variant)	Achondrogenesis type II +16 more	GLikely benign
Select item 1125241	NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=)	COL2A1	Single nucleotide variant (synonymous variant)	Achondrogenesis type II +16 more	GLikely benign
Select item 1110328	NM_001844.5(COL2A1):c.2886C>T (p.Asp962=)	COL2A1	Single nucleotide variant (synonymous variant)	Achondrogenesis type II +16 more	GLikely benign
Select item 1106196	NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=)	COL2A1	Single nucleotide variant (synonymous variant)	Achondrogenesis type II +16 more	GLikely benign
Select item 1074468	NM_001844.5(COL2A1):c.1A>G (p.Met1Val)	COL2A1 (M1V)	Single nucleotide variant (missense variant +1 more)	Achondrogenesis type II +15 more	GPathogenic
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)	Stickler syndrome type 1 +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	GConflicting classifications of pathogenicity

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