ClinVar for MedGen (Select 120628) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255178	NM_000393.5(COL5A2):c.3229G>A (p.Gly1077Ser)	COL5A2 (G1077S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 3235144	NM_000393.5(COL5A2):c.3404A>G (p.Asp1135Gly)	COL5A2 (D1135G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 3067905	NM_000393.5(COL5A2):c.970G>A (p.Gly324Ser)	COL5A2 (G324S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 2920931	NM_000393.5(COL5A2):c.744+19T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely benign
Select item 2920858	NM_000393.5(COL5A2):c.1289C>G (p.Ala430Gly)	COL5A2 (A430G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 2686014	NM_001129.5(AEBP1):c.2923del (p.Ala975fs)	AEBP1 (A975fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 2664068	NM_000393.5(COL5A2):c.659C>G (p.Pro220Arg)	COL5A2 (P220R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 2627760	NM_000393.5(COL5A2):c.3230del (p.Gly1077fs)	COL5A2 (G1077fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 2584502	NM_000393.5(COL5A2):c.3933C>G (p.Tyr1311Ter)	COL5A2 (Y1311*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 2	GPathogenic
Select item 2440336	NM_000393.5(COL5A2):c.2531C>T (p.Ala844Val)	COL5A2 (A844V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 2440335	NM_000393.5(COL5A2):c.4183A>G (p.Lys1395Glu)	COL5A2 (K1395E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 2439422	NM_000393.5(COL5A2):c.1159-1G>A	COL5A2	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely pathogenic
Select item 2431553	NM_000393.5(COL5A2):c.2031+1G>A	COL5A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 2430132	NM_000393.5(COL5A2):c.2285G>A (p.Gly762Asp)	COL5A2 (G762D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 2162548	NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)	COL5A2 (P962S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 2042697	NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)	COL5A2 (R956Q)	Single nucleotide variant (missense variant)	COL5A2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1895397	NM_000393.5(COL5A2):c.1105G>A (p.Gly369Ser)	COL5A2 (G369S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GPathogenic
Select item 1805198	NM_000393.5(COL5A2):c.1907G>C (p.Gly636Ala)	COL5A2 (G636A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 1723124	NM_000393.5(COL5A2):c.2553+1G>T	COL5A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 1709487	NM_000393.5(COL5A2):c.2499+6T>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 1707604	NM_000393.5(COL5A2):c.3399T>C (p.His1133=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 1675162	NM_000393.5(COL5A2):c.1813A>G (p.Ile605Val)	COL5A2 (I605V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GUncertain significance
Select item 1470109	NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val)	COL5A2 (A592V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1369746	NM_000393.5(COL5A2):c.1005+3A>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 2 +4 more	GConflicting classifications of pathogenicity
Select item 1348795	NM_000393.5(COL5A2):c.476G>C (p.Gly159Ala)	COL5A2 (G159A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 1324127	NM_000393.5(COL5A2):c.98-1G>T	COL5A2	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 1255462	NM_000393.5(COL5A2):c.2661+20G>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GBenign/Likely benign
Select item 1164099	NM_000393.5(COL5A2):c.1311A>G (p.Pro437=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2 +3 more	GBenign
Select item 1164098	NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign
Select item 1051709	NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu)	COL5A1 (P1355L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1028727	NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg)	COL5A2 (G945R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 994434	NM_000393.5(COL5A2):c.1404T>C (p.Gly468=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely benign
Select item 994067	NM_000393.5(COL5A2):c.691-15T>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GLikely benign
Select item 993416	NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu)	COL5A2 (P250L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 993408	NM_000393.5(COL5A2):c.4213T>G (p.Cys1405Gly)	COL5A2 (C1405G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 992510	NM_000393.5(COL5A2):c.28C>A (p.Pro10Thr)	COL5A2 (P10T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GUncertain significance
Select item 988851	NM_000393.5(COL5A2):c.2786C>T (p.Ala929Val)	COL5A2 (A929V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 977757	NM_000393.5(COL5A2):c.568-316_3525+41del	COL5A2	Deletion (splice acceptor variant +1 more)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 976315	NM_000393.5(COL5A2):c.1159-60_2031+62dup	COL5A2	Duplication (splice acceptor variant +1 more)	Ehlers-Danlos syndrome, classic type, 2	GPathogenic
Select item 953965	NM_000393.5(COL5A2):c.239T>A (p.Leu80Gln)	COL5A2 (L80Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 932005	NM_000393.5(COL5A2):c.3731T>C (p.Met1244Thr)	COL5A2 (M1244T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 931920	NM_000393.5(COL5A2):c.4057A>G (p.Lys1353Glu)	COL5A2 (K1353E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 931340	NM_000393.5(COL5A2):c.2955A>G (p.Pro985=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 931079	NM_000093.5(COL5A1):c.2646+16del	COL5A1	Deletion (intron variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 931041	NM_000093.5(COL5A1):c.1495-7T>A	COL5A1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GConflicting classifications of pathogenicity
Select item 931040	NM_000393.5(COL5A2):c.3656C>T (p.Pro1219Leu)	COL5A2 (P1219L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 931023	NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser)	COL5A1 (G270S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 930866	NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly)	COL5A1 (R594G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 930777	NM_000393.5(COL5A2):c.2595G>C (p.Glu865Asp)	COL5A2 (E865D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 930611	NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter)	COL5A1 (Q911*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic type, 2	GPathogenic
Select item 930585	NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala)	COL5A1 (P290A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 930317	NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs)	COL5A1, LOC101448202 (V1602fs)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 899250	NM_000393.5(COL5A2):c.*436A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GBenign
Select item 899249	NM_000393.5(COL5A2):c.*476T>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GBenign
Select item 899248	NM_000393.5(COL5A2):c.*525A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GBenign
Select item 898269	NM_000393.5(COL5A2):c.302G>A (p.Gly101Glu)	COL5A2 (G101E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely benign
Select item 898195	NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys)	COL5A2 (R1067C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +3 more	GConflicting classifications of pathogenicity
Select item 898140	NM_000393.5(COL5A2):c.*1331C>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely benign
Select item 896701	NM_000393.5(COL5A2):c.-96G>T	COL5A2	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely benign
Select item 870138	NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)	COL5A2 (G1164R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely pathogenic
Select item 857094	NM_000393.5(COL5A2):c.852G>A (p.Pro284=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GConflicting classifications of pathogenicity
Select item 811946	NM_000393.5(COL5A2):c.2831G>A (p.Arg944His)	COL5A2 (R944H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 811150	NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 798246	NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GLikely benign
Select item 698570	NM_000393.5(COL5A2):c.906+9A>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 696848	NM_000093.5(COL5A1):c.57G>A (p.Leu19=)	COL5A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2 +3 more	GConflicting classifications of pathogenicity
Select item 665486	NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met)	COL5A2 (T1264M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 653883	NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu)	COL5A2 (P866L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 653176	NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn)	COL5A2 (I53N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +3 more	GUncertain significance
Select item 643019	NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu)	COL5A2 (P1213L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 642815	NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln)	COL5A2 (R572Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 640635	NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn)	COL5A2 (D185N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 631532	NM_000393.5(COL5A2):c.3363+2T>C	COL5A2	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, classic type +1 more	GUncertain significance
Select item 626090	NM_000393.5(COL5A2):c.875C>T (p.Ala292Val)	COL5A2 (A292V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +2 more	GUncertain significance
Select item 625925	NM_000393.5(COL5A2):c.2970G>C (p.Gly990=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type +3 more	GConflicting classifications of pathogenicity
Select item 561294	NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys)	COL5A2 (E565K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 546102	NM_000393.5(COL5A2):c.1401G>A (p.Pro467=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 529269	NM_000393.5(COL5A2):c.1658C>A (p.Pro553His)	COL5A2 (P553H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 529262	NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe)	COL5A2 (S451F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +3 more	GUncertain significance
Select item 523366	NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)	COL5A2 (G252C)	Single nucleotide variant (missense variant)	Telecanthus +5 more	GLikely pathogenic
Select item 519679	NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His)	COL5A2 (R1283H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 519663	NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu)	COL5A2 (P961L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type +5 more	GConflicting classifications of pathogenicity
Select item 519647	NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp)	COL5A1 (R210W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 519643	NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)	COL5A1 (P435L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 517896	NM_000393.5(COL5A2):c.98-13T>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 517132	NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser)	COL5A2 (G270S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 517119	NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp)	COL5A2 (G1092D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 516155	NM_000393.5(COL5A2):c.2661+13G>T	COL5A2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 513670	NM_000393.5(COL5A2):c.4114-18_4114-17del	COL5A2	Deletion (intron variant)	not specified +2 more	GLikely benign
Select item 487466	NM_000393.5(COL5A2):c.798+5G>A	COL5A2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 459746	NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser)	COL5A2 (P1226S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 439540	NM_000393.5(COL5A2):c.322+157C>T	COL5A2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 439539	NM_000393.5(COL5A2):c.315C>A (p.Thr105=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 429323	NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala)	COL5A2 (G471A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +4 more	GUncertain significance
Select item 425252	NM_000393.5(COL5A2):c.389G>A (p.Arg130His)	COL5A2 (R130H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 422696	NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro)	COL5A2 (A1115P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 421327	NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys)	COL5A2 (R130C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 409120	NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)	COL5A1 (G1198S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 408291	NM_000393.5(COL5A2):c.238C>G (p.Leu80Val)	COL5A2 (L80V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 408279	NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg)	COL5A2 (Q1163R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity

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