ClinVar for MedGen (Select 41720) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3773767	NM_003247.5(THBS2):c.1273T>G (p.Cys425Gly)	THBS2, THBS2-AS1 (C348G +1 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 3251286	NM_000093.5(COL5A1):c.4830_4831dup (p.Ile1611fs)	COL5A1, LOC101448202 (I1611fs)	Microsatellite (frameshift variant)	Ehlers-Danlos syndrome	GPathogenic
Select item 3075816	NM_000093.5(COL5A1):c.3688C>T (p.Gln1230Ter)	COL5A1 (Q1230*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 3062024	NM_003247.5(THBS2):c.2686T>C (p.Cys896Arg)	THBS2-AS1, LOC126859908 +1 more (C819R +2 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome	GPathogenic
Select item 2682437	NM_000089.4(COL1A2):c.739G>A (p.Gly247Ser)	COL1A2 (G247S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GPathogenic/Likely pathogenic
Select item 2579127	NM_000393.5(COL5A2):c.2662-2A>G	COL5A2	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 2573359	NM_000093.5(COL5A1):c.4393-4_4398del	COL5A1	Deletion (splice acceptor variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 2418894	NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)	COL3A1 (R572*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1702372	NM_001367624.2(ZNF469):c.10929A>C (p.Leu3643=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1702371	NM_001367624.2(ZNF469):c.10806G>A (p.Pro3602=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1702370	NM_001367624.2(ZNF469):c.10480C>G (p.Arg3494Gly)	ZNF469 (R3494G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1702369	NM_001367624.2(ZNF469):c.10459G>A (p.Gly3487Ser)	ZNF469 (G3487S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1702368	NM_001367624.2(ZNF469):c.10333C>T (p.Arg3445Trp)	ZNF469 (R3445W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702367	NM_001367624.2(ZNF469):c.1015C>G (p.Gln339Glu)	ZNF469 (Q339E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702366	NM_001367624.2(ZNF469):c.10199C>G (p.Pro3400Arg)	ZNF469 (P3400R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702365	NM_001365276.2(TNXB):c.9970C>T (p.Arg3324Cys)	TNXB (R3322C +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702364	NM_001365276.2(TNXB):c.9899A>G (p.Gln3300Arg)	TNXB (Q3298R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702363	NM_001365276.2(TNXB):c.9668dup (p.Leu3224fs)	TNXB (L3222fs +1 more)	Duplication (frameshift variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1702362	NM_001365276.2(TNXB):c.9579C>T (p.Phe3193=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1702361	NM_001365276.2(TNXB):c.9511G>T (p.Glu3171Ter)	TNXB (E3169* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1702360	NM_001365276.2(TNXB):c.9498_9499del (p.Glu3166fs)	TNXB (E3164fs +1 more)	Deletion (frameshift variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1702359	NM_001365276.2(TNXB):c.9497A>T (p.Glu3166Val)	TNXB (E3164V +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1702358	NM_001365276.2(TNXB):c.9474T>G (p.Thr3158=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702357	NM_001365276.2(TNXB):c.9188T>G (p.Leu3063Arg)	TNXB (L3061R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702356	NM_001365276.2(TNXB):c.8966G>A (p.Arg2989Lys)	TNXB (R2987K +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702355	NM_001365276.2(TNXB):c.8865G>A (p.Leu2955=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702354	NM_001365276.2(TNXB):c.8393G>A (p.Arg2798His)	TNXB (R2798H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1702353	NM_001365276.2(TNXB):c.8290G>A (p.Asp2764Asn)	TNXB (D2764N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702352	NM_001365276.2(TNXB):c.8247del (p.Asp2750fs)	TNXB (D2750fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1702351	NM_001365276.2(TNXB):c.8192C>T (p.Pro2731Leu)	TNXB (P2731L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702350	NM_001365276.2(TNXB):c.8141C>T (p.Thr2714Met)	TNXB (T2714M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 1702349	NM_001365276.2(TNXB):c.8112C>T (p.Arg2704=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1702348	NM_001365276.2(TNXB):c.8101G>A (p.Gly2701Ser)	TNXB (G2701S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702347	NM_000052.7(ATP7A):c.3584T>A (p.Ile1195Asn)	ATP7A (I1117N +1 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702346	NM_001365276.2(TNXB):c.7534C>A (p.Pro2512Thr)	TNXB (P2512T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702345	NM_001365276.2(TNXB):c.7449C>T (p.His2483=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1702344	NM_001365276.2(TNXB):c.706C>T (p.Arg236Trp)	TNXB (R236W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702343	NM_001365276.2(TNXB):c.6749C>T (p.Ser2250Leu)	TNXB (S2250L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702342	NM_001365276.2(TNXB):c.6694G>A (p.Asp2232Asn)	TNXB (D2232N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1702341	NM_001365276.2(TNXB):c.6544+10C>T	TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702340	NM_001365276.2(TNXB):c.6358G>A (p.Gly2120Ser)	TNXB (G2120S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1702339	NM_001365276.2(TNXB):c.5757C>T (p.Asp1919=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1702338	NM_001365276.2(TNXB):c.5619G>A (p.Thr1873=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1702337	NM_001365276.2(TNXB):c.5585C>T (p.Thr1862Ile)	TNXB (T1862I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702336	NM_001365276.2(TNXB):c.5269G>A (p.Gly1757Ser)	TNXB (G1757S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 1702335	NM_001365276.2(TNXB):c.5098C>G (p.Gln1700Glu)	TNXB (Q1700E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702334	NM_001365276.2(TNXB):c.5072G>A (p.Arg1691His)	TNXB (R1691H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702333	NM_001365276.2(TNXB):c.4916G>A (p.Arg1639His)	TNXB (R1639H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702332	NM_001365276.2(TNXB):c.4831T>C (p.Tyr1611His)	TNXB (Y1611H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702331	NM_001365276.2(TNXB):c.4360G>A (p.Ala1454Thr)	TNXB (A1454T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1702330	NM_001365276.2(TNXB):c.4290A>G (p.Leu1430=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702329	NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val)	ATP7A (F717V)	Single nucleotide variant (missense variant)	Cutis laxa, X-linked +3 more	GConflicting classifications of pathogenicity
Select item 1702328	NM_001365276.2(TNXB):c.3968G>A (p.Arg1323Gln)	TNXB (R1323Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 1702327	NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs)	TNXB (T1315fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1702326	NM_001365276.2(TNXB):c.3826T>C (p.Ser1276Pro)	TNXB (S1276P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 1702325	NM_001365276.2(TNXB):c.3075G>A (p.Pro1025=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1702324	NM_001365276.2(TNXB):c.3033C>T (p.Asp1011=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1702323	NM_001365276.2(TNXB):c.285C>T (p.Val95=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702322	NM_001365276.2(TNXB):c.2325C>T (p.Pro775=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1702321	NM_001365276.2(TNXB):c.2312C>G (p.Pro771Arg)	TNXB (P771R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1702320	NM_001365276.2(TNXB):c.210G>A (p.Gln70=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702319	NM_001365276.2(TNXB):c.2106G>A (p.Gln702=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1702318	NM_001365276.2(TNXB):c.2076C>T (p.Cys692=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1702317	NM_001365276.2(TNXB):c.1834G>T (p.Val612Leu)	TNXB (V612L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1702316	NM_001365276.2(TNXB):c.180C>T (p.Tyr60=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1702315	NM_001365276.2(TNXB):c.1606G>T (p.Gly536Cys)	TNXB (G536C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702314	NM_001365276.2(TNXB):c.1530C>T (p.Gly510=)	TNXB	Single nucleotide variant (synonymous variant)	Vesicoureteral reflux 8 +2 more	GConflicting classifications of pathogenicity
Select item 1702313	NM_001365276.2(TNXB):c.1468C>A (p.Arg490=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1702312	NM_001365276.2(TNXB):c.144G>C (p.Val48=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702311	NM_001365276.2(TNXB):c.1446G>A (p.Met482Ile)	TNXB (M482I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702310	NM_001365276.2(TNXB):c.1424G>T (p.Arg475Leu)	TNXB (R475L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1702309	NM_001365276.2(TNXB):c.1336G>C (p.Glu446Gln)	TNXB (E446Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702308	NM_001365276.2(TNXB):c.1327G>A (p.Gly443Arg)	TNXB (G443R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702307	NM_001365276.2(TNXB):c.1273T>C (p.Tyr425His)	TNXB (Y425H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702306	NM_001365276.2(TNXB):c.12168G>C (p.Leu4056=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1702305	NM_001365276.2(TNXB):c.12167T>C (p.Leu4056Pro)	LOC106780803, TNXB (L4054P +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702304	NM_001365276.2(TNXB):c.11581G>A (p.Ala3861Thr)	LOC106780803, TNXB (A290T +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1702303	NM_001365276.2(TNXB):c.11421C>T (p.Ala3807=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702302	NM_001365276.2(TNXB):c.11387-10A>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702301	NM_001365276.2(TNXB):c.11349G>A (p.Ala3783=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GLikely benign
Select item 1702300	NM_001365276.2(TNXB):c.10803C>T (p.Leu3601=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702299	NM_001365276.2(TNXB):c.10636_10647dup (p.Glu3549_Ala3550insLeuAlaProGlu)	LOC106780803, TNXB	Duplication (inframe_insertion +1 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702298	NM_001365276.2(TNXB):c.10623_10624del (p.Pro3542fs)	LOC106780803, TNXB (P3540fs +1 more)	Microsatellite (frameshift variant +1 more)	Ehlers-Danlos syndrome +3 more	GLikely pathogenic
Select item 1702297	NM_001365276.2(TNXB):c.10555G>A (p.Gly3519Arg)	TNXB (G3517R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1702296	NM_001365276.2(TNXB):c.10537T>A (p.Tyr3513Asn)	TNXB (Y3511N +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702295	NM_003242.6(TGFBR2):c.928G>T (p.Ala310Ser)	TGFBR2 (A310S +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 1702294	NM_003242.6(TGFBR2):c.363C>A (p.Cys121Ter)	TGFBR2 (C121* +3 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702293	NM_003242.6(TGFBR2):c.1582C>G (p.Arg528Gly)	TGFBR2 (R528G +10 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1702292	NM_000052.7(ATP7A):c.1374A>G (p.Ser458=)	ATP7A	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1702291	NM_004612.4(TGFBR1):c.52G>T (p.Ala18Ser)	TGFBR1 (A18S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702290	NM_004612.4(TGFBR1):c.50T>A (p.Leu17Gln)	TGFBR1 (L17Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1702289	NM_004612.4(TGFBR1):c.463C>G (p.His155Asp)	TGFBR1 (H155D +1 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome +2 more	GUncertain significance
Select item 1702288	NM_004612.4(TGFBR1):c.1140C>T (p.Ala380=)	TGFBR1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1702287	NM_004612.4(TGFBR1):c.1071A>C (p.Arg357Ser)	TGFBR1 (R280S +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702286	NM_003238.6(TGFB2):c.988C>G (p.Leu330Val)	TGFB2 (L330V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1702285	NM_003238.6(TGFB2):c.254G>A (p.Arg85Lys)	TGFB2 (R85K)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702284	NM_003238.6(TGFB2):c.1041del (p.Gly348fs)	TGFB2 (G348fs +1 more)	Deletion (frameshift variant +1 more)	Ehlers-Danlos syndrome	GPathogenic
Select item 1702283	NM_005902.4(SMAD3):c.594del (p.His198fs)	SMAD3 (H154fs +3 more)	Deletion (frameshift variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1702282	NM_014244.5(ADAMTS2):c.821T>C (p.Val274Ala)	ADAMTS2 (V274A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702281	NM_014244.5(ADAMTS2):c.139+4G>C	ADAMTS2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance

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