triple helix - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1217758	NM_001852.4(COL9A2):c.1753G>A (p.Val585Met)	COL9A2 (V585M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1199096	NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser)	COL9A2 (P228S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1174415	NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser)	COL9A2 (P73S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 498797	NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	COL11A1 (G1516V +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +3 more	GPathogenic/Likely pathogenic
Select item 2630749	NM_001854.4(COL11A1):c.4323_4340del (p.Leu1442_Gly1447del)	COL11A1	Deletion (inframe_indel +2 more)	COL11A1-related disorder	GLikely pathogenic
Select item 2572997	NM_001854.4(COL11A1):c.3883_3892del (p.Ala1295fs)	COL11A1 (A1179fs +3 more)	Deletion (frameshift variant +1 more)	Stickler syndrome type 2	GLikely pathogenic
Select item 2446721	NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)	COL11A1 (G1055D +3 more)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2	GLikely pathogenic
Select item 372792	NM_001854.4(COL11A1):c.1630-2del	COL11A1	Deletion (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 12859	NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu)	SPTA1 (D791E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1068130	NC_000001.10:g.(?_103380260)_(103548528_?)del	COL11A1	Deletion	not provided	GPathogenic
Select item 1329349	NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser)	COL3A1 (G171S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely pathogenic
Select item 2791562	NM_000090.4(COL3A1):c.529G>A (p.Gly177Ser)	COL3A1 (G177S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 417330	NC_000002.11:g.(?_189852807)_(189855783_?)dup	COL3A1	Duplication	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1471288	NM_000090.4(COL3A1):c.530G>C (p.Gly177Ala)	COL3A1 (G177A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1163236	NM_000090.4(COL3A1):c.530G>T (p.Gly177Val)	COL3A1 (G177V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely pathogenic
Select item 17228	NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 1457178	NM_000090.4(COL3A1):c.548G>T (p.Gly183Val)	COL3A1 (G183V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17220	NM_000090.4(COL3A1):c.582+6T>C	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 74348	NM_000090.4(COL3A1):c.583G>A (p.Gly195Arg)	COL3A1 (G195R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 101373	NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101351	NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic/Likely pathogenic
Select item 2864568	NM_000090.4(COL3A1):c.619G>A (p.Gly207Arg)	COL3A1 (G207R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 459795	NM_000090.4(COL3A1):c.619G>T (p.Gly207Trp)	COL3A1 (G207W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 101448	NM_000090.4(COL3A1):c.636+5G>A	COL3A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 1163237	NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp)	COL3A1 (G213D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GPathogenic/Likely pathogenic
Select item 1065947	NM_000090.4(COL3A1):c.648_665del (p.Pro218_Pro223del)	COL3A1	Deletion (inframe_deletion)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 101310	NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 1394873	NM_000090.4(COL3A1):c.674G>A (p.Gly225Asp)	COL3A1 (G225D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 101469	NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala)	COL3A1	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 101399	NM_000090.4(COL3A1):c.701G>A (p.Gly234Asp)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 101349	NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic
Select item 2129799	NM_000090.4(COL3A1):c.727G>C (p.Gly243Arg)	COL3A1 (G243R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101356	NM_000090.4(COL3A1):c.728G>T (p.Gly243Val)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1488583	NM_000090.4(COL3A1):c.745G>A (p.Gly249Ser)	COL3A1 (G249S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101295	NM_000090.4(COL3A1):c.746G>T (p.Gly249Val)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 2120816	NM_000090.4(COL3A1):c.754G>A (p.Gly252Ser)	COL3A1 (G252S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 228249	NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys)	COL3A1 (G252C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic/Likely pathogenic
Select item 101156	NM_000090.4(COL3A1):c.755G>T (p.Gly252Val)	COL3A1	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 625114	NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala)	COL3A1 (G258A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic/Likely pathogenic
Select item 1067438	NM_000090.4(COL3A1):c.781G>C (p.Gly261Arg)	COL3A1 (G261R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101367	NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic/Likely pathogenic
Select item 101320	NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 101113	NM_000090.4(COL3A1):c.800G>T (p.Gly267Val)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 2725494	NM_000090.4(COL3A1):c.818G>A (p.Gly273Glu)	COL3A1 (G273E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 659067	NM_000090.4(COL3A1):c.826G>A (p.Gly276Ser)	COL3A1 (G276S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 658081	NM_000090.4(COL3A1):c.827G>T (p.Gly276Val)	COL3A1 (G276V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101307	NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp)	COL3A1	Single nucleotide variant (missense variant)	COL3A1-related disorder +1 more	GPathogenic
Select item 664376	NM_000090.4(COL3A1):c.845G>T (p.Gly282Val)	COL3A1 (G282V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 1500982	NM_000090.4(COL3A1):c.862G>A (p.Gly288Ser)	COL3A1 (G288S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1469491	NM_000090.4(COL3A1):c.880G>A (p.Gly294Arg)	COL3A1 (G294R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 17229	NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg)	COL3A1 (G297R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101143	NM_000090.4(COL3A1):c.899G>A (p.Gly300Asp)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 101364	NM_000090.4(COL3A1):c.926G>A (p.Gly309Glu)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 404297	NM_000090.4(COL3A1):c.944G>T (p.Gly315Val)	COL3A1 (G315V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101183	NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2879992	NM_000090.4(COL3A1):c.952G>T (p.Gly318Cys)	COL3A1 (G318C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 529315	NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp)	COL3A1 (G318D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic/Likely pathogenic
Select item 1347930	NM_000090.4(COL3A1):c.961G>A (p.Gly321Ser)	COL3A1 (G321S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101390	NM_000090.4(COL3A1):c.962G>A (p.Gly321Asp)	COL3A1	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 101388	NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GPathogenic/Likely pathogenic
Select item 101430	NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 199715	NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg)	COL3A1 (G342R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GPathogenic/Likely pathogenic
Select item 1067718	NM_000090.4(COL3A1):c.1051G>A (p.Gly351Ser)	COL3A1 (G351S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1474242	NM_000090.4(COL3A1):c.1070G>A (p.Gly357Glu)	COL3A1 (G357E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2073641	NM_000090.4(COL3A1):c.1079G>T (p.Gly360Val)	COL3A1 (G360V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1467833	NM_000090.4(COL3A1):c.1105G>C (p.Gly369Arg)	COL3A1 (G369R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 633178	NM_000090.4(COL3A1):c.1106G>T (p.Gly369Val)	COL3A1 (G369V)	Single nucleotide variant (missense variant)	Familial aortopathy	GLikely pathogenic
Select item 2705362	NM_000090.4(COL3A1):c.1115_1117del (p.Gly372_Pro373delinsAla)	COL3A1	Deletion (inframe_indel)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 948196	NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp)	COL3A1 (G378D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 17203	NM_000090.4(COL3A1):c.1149+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 2733896	NM_000090.4(COL3A1):c.1150G>C (p.Gly384Arg)	COL3A1 (G384R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2734340	NM_000090.4(COL3A1):c.1151G>A (p.Gly384Asp)	COL3A1 (G384D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 263816	NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser)	COL3A1 (P386S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 1990321	NM_000090.4(COL3A1):c.1187G>A (p.Gly396Asp)	COL3A1 (G396D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 404290	NM_000090.4(COL3A1):c.1196G>C (p.Gly399Ala)	COL3A1 (G399A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2013532	NM_000090.4(COL3A1):c.1213G>A (p.Gly405Arg)	COL3A1 (G405R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1506584	NM_000090.4(COL3A1):c.1223G>T (p.Gly408Val)	COL3A1 (G408V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101237	NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely pathogenic
Select item 2798833	NM_000090.4(COL3A1):c.1240G>A (p.Gly414Ser)	COL3A1 (G414S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 199720	NM_000090.4(COL3A1):c.1241G>T (p.Gly414Val)	COL3A1 (G414V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 940059	NM_000090.4(COL3A1):c.1249G>C (p.Gly417Arg)	COL3A1 (G417R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101452	NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GPathogenic/Likely pathogenic
Select item 1496360	NM_000090.4(COL3A1):c.1277G>A (p.Gly426Glu)	COL3A1 (G426E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 619225	NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter)	COL3A1 (R428*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic
Select item 618578	NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser)	COL3A1 (G429S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GConflicting classifications of pathogenicity
Select item 863790	NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp)	COL3A1 (G432D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 263854	NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser)	COL3A1 (G435S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely pathogenic
Select item 1523318	NM_000090.4(COL3A1):c.1313G>A (p.Gly438Asp)	COL3A1 (G438D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2032118	NM_000090.4(COL3A1):c.1321G>A (p.Gly441Arg)	COL3A1 (G441R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1067325	NM_000090.4(COL3A1):c.1322G>A (p.Gly441Glu)	COL3A1 (G441E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101329	NM_000090.4(COL3A1):c.1330G>C (p.Gly444Arg)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 101185	NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic
Select item 1467383	NM_000090.4(COL3A1):c.1357G>T (p.Gly453Cys)	COL3A1 (G453C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2035506	NM_000090.4(COL3A1):c.1366G>A (p.Gly456Ser)	COL3A1 (G456S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 101365	NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser)	COL3A1	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2810051	NM_000090.4(COL3A1):c.1412G>A (p.Gly471Glu)	COL3A1 (G471E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 2751919	NM_000090.4(COL3A1):c.1421G>A (p.Gly474Asp)	COL3A1 (G474D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1068391	NM_000090.4(COL3A1):c.1429G>T (p.Gly477Trp)	COL3A1 (G477W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic
Select item 1525594	NM_000090.4(COL3A1):c.1430G>A (p.Gly477Glu)	COL3A1 (G477E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GLikely pathogenic

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