ClinVar for MedGen (Select 78549) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 525

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500232	NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)	FBN1 (C2190Y)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +7 more	GLikely pathogenic
Select item 2500030	NM_000138.5(FBN1):c.164+3A>G	FBN1	Single nucleotide variant (intron variant)	Geleophysic dysplasia 2 +7 more	GUncertain significance
Select item 2500029	NM_000138.5(FBN1):c.6037+9G>A	FBN1	Single nucleotide variant (intron variant)	Geleophysic dysplasia 2 +7 more	GUncertain significance
Select item 2500028	NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)	FBN1 (T655I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +7 more	GUncertain significance
Select item 2444200	NM_000138.5(FBN1):c.4354C>T (p.Leu1452Phe)	FBN1 (L1452F)	Single nucleotide variant (missense variant)	Acromicric dysplasia	GUncertain significance
Select item 2431523	NM_000138.5(FBN1):c.5177G>T (p.Gly1726Val)	FBN1 (G1726V)	Single nucleotide variant (missense variant)	Acromicric dysplasia	GUncertain significance
Select item 1723869	NM_000138.5(FBN1):c.5284G>T (p.Gly1762Cys)	FBN1 (G1762C)	Single nucleotide variant (missense variant)	Acromicric dysplasia	GLikely pathogenic
Select item 1707834	NM_000138.5(FBN1):c.2753del (p.Pro918fs)	FBN1 (P918fs)	Deletion (frameshift variant)	Geleophysic dysplasia 2 +8 more	GPathogenic
Select item 1685819	NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg)	FBN1 (C1562R)	Single nucleotide variant (missense variant)	Acromicric dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1685818	NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)	FBN1 (C2210Y)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1685817	NM_000138.5(FBN1):c.7249del (p.Glu2417fs)	FBN1 (E2417fs)	Deletion (frameshift variant)	Acromicric dysplasia	GPathogenic
Select item 1685816	NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs)	FBN1 (E2735fs)	Duplication (frameshift variant)	Acromicric dysplasia	GPathogenic
Select item 1685316	NM_000138.5(FBN1):c.7623C>G (p.Cys2541Trp)	FBN1 (C2541W)	Single nucleotide variant (missense variant)	Acromicric dysplasia	GLikely pathogenic
Select item 1683750	NM_000138.5(FBN1):c.5105A>G (p.Asp1702Gly)	FBN1 (D1702G)	Single nucleotide variant (missense variant)	Acromicric dysplasia +1 more	GUncertain significance
Select item 1677650	NM_000138.5(FBN1):c.4406G>T (p.Arg1469Leu)	FBN1 (R1469L)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 1677476	NM_000138.5(FBN1):c.319A>T (p.Ile107Leu)	FBN1 (I107L)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GUncertain significance
Select item 1675082	NM_000138.5(FBN1):c.6164-5T>C	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity
Select item 1675081	NM_000138.5(FBN1):c.5836del (p.Gln1946fs)	FBN1 (Q1946fs)	Deletion (frameshift variant)	Stiff skin syndrome +7 more	GPathogenic
Select item 1675080	NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro)	FBN1 (L1193P)	Single nucleotide variant (missense variant)	Stiff skin syndrome +7 more	GUncertain significance
Select item 1675079	NM_000138.5(FBN1):c.69T>C (p.His23=)	FBN1, LOC130057019	Single nucleotide variant (synonymous variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity
Select item 1675078	NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg)	FBN1 (C734R)	Single nucleotide variant (missense variant)	Stiff skin syndrome +7 more	GLikely pathogenic
Select item 1576212	NM_000138.5(FBN1):c.164+12G>A	FBN1	Single nucleotide variant (intron variant)	not specified +9 more	GLikely benign
Select item 1527855	NM_000138.5(FBN1):c.3337+1dup	FBN1	Duplication (splice donor variant)	Ectopia lentis 1, isolated, autosomal dominant +7 more	GLikely pathogenic
Select item 1512931	NM_000138.5(FBN1):c.4130A>T (p.His1377Leu)	FBN1 (H1377L)	Single nucleotide variant (missense variant)	Acromicric dysplasia +8 more	GUncertain significance
Select item 1511415	NM_000138.5(FBN1):c.5753A>G (p.His1918Arg)	FBN1 (H1918R)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity
Select item 1488677	NM_000138.5(FBN1):c.6640C>G (p.Pro2214Ala)	FBN1 (P2214A)	Single nucleotide variant (missense variant)	MASS syndrome +8 more	GUncertain significance
Select item 1485981	NM_000138.5(FBN1):c.5717G>A (p.Arg1906Gln)	FBN1 (R1906Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 1451231	NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr)	FBN1 (C1374Y)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic
Select item 1447064	NM_000138.5(FBN1):c.5566A>G (p.Ile1856Val)	FBN1 (I1856V)	Single nucleotide variant (missense variant)	Stiff skin syndrome +9 more	GUncertain significance
Select item 1416068	NM_000138.5(FBN1):c.4487C>T (p.Thr1496Met)	FBN1 (T1496M)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 1409400	NM_000138.5(FBN1):c.8418C>G (p.Ile2806Met)	FBN1 (I2806M)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1388574	NM_000138.5(FBN1):c.5938G>C (p.Glu1980Gln)	FBN1 (E1980Q)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 1372322	NM_000138.5(FBN1):c.4404C>G (p.Phe1468Leu)	FBN1 (F1468L)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 1342380	NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro)	FBN1 (A2614P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GConflicting classifications of pathogenicity
Select item 1341359	NM_000138.5(FBN1):c.595C>T (p.Leu199Phe)	FBN1 (L199F)	Single nucleotide variant (missense variant)	Acromicric dysplasia +7 more	GUncertain significance
Select item 1332450	NM_000138.5(FBN1):c.451G>C (p.Glu151Gln)	FBN1 (E151Q)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 1332324	NM_000138.5(FBN1):c.6533A>G (p.Asn2178Ser)	FBN1 (N2178S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 1332267	NM_000138.5(FBN1):c.6403G>C (p.Asp2135His)	FBN1 (D2135H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 1332159	NM_000138.5(FBN1):c.799G>C (p.Gly267Arg)	FBN1 (G267R)	Single nucleotide variant (missense variant)	Stiff skin syndrome +8 more	GUncertain significance
Select item 1332044	NM_000138.5(FBN1):c.3205A>G (p.Thr1069Ala)	FBN1 (T1069A)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 1308349	NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)	FBN1 (I817V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 1303684	NM_000138.5(FBN1):c.1885G>A (p.Val629Ile)	FBN1 (V629I)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 1301311	NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr)	FBN1 (A2614T)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 1211251	NM_000138.5(FBN1):c.297G>A (p.Met99Ile)	FBN1 (M99I)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GUncertain significance
Select item 1171659	NM_000138.5(FBN1):c.1031G>A (p.Arg344His)	FBN1, LOC113939944 (R344H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 1171204	NM_000138.5(FBN1):c.442+4A>C	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 1171112	NM_000138.5(FBN1):c.1940T>C (p.Leu647Pro)	FBN1 (L647P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 1055825	NM_000138.5(FBN1):c.1907G>A (p.Arg636Lys)	FBN1 (R636K)	Single nucleotide variant (missense variant)	Acromicric dysplasia +8 more	GUncertain significance
Select item 1004707	NM_000138.5(FBN1):c.3523A>G (p.Ile1175Val)	FBN1 (I1175V)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 1004610	NM_000138.5(FBN1):c.3359A>T (p.Asp1120Val)	FBN1 (D1120V)	Single nucleotide variant (missense variant)	Acromicric dysplasia +8 more	GConflicting classifications of pathogenicity
Select item 1000255	NM_000138.5(FBN1):c.3254A>G (p.Gln1085Arg)	FBN1 (Q1085R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 979123	NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn)	FBN1 (Y1311N)	Single nucleotide variant (missense variant)	Marfan syndrome +10 more	GConflicting classifications of pathogenicity
Select item 943589	NM_000138.5(FBN1):c.2735A>G (p.Asp912Gly)	FBN1 (D912G)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GConflicting classifications of pathogenicity
Select item 938898	NM_000138.5(FBN1):c.6161A>G (p.Gln2054Arg)	FBN1 (Q2054R)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GUncertain significance
Select item 928686	NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser)	FBN1 (G2187S)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 928399	NM_000138.5(FBN1):c.3592A>G (p.Ile1198Val)	FBN1 (I1198V)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GUncertain significance
Select item 928372	NM_000138.5(FBN1):c.5603C>T (p.Thr1868Ile)	FBN1 (T1868I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GConflicting classifications of pathogenicity
Select item 928232	NM_000138.5(FBN1):c.4894C>T (p.Arg1632Cys)	FBN1 (R1632C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 927991	NM_000138.5(FBN1):c.5449G>A (p.Val1817Met)	FBN1 (V1817M)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GUncertain significance
Select item 927888	NM_000138.5(FBN1):c.4718C>T (p.Pro1573Leu)	FBN1 (P1573L)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +9 more	GUncertain significance
Select item 927828	NM_000138.5(FBN1):c.7727G>A (p.Arg2576His)	FBN1 (R2576H)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GUncertain significance
Select item 927669	NM_000138.5(FBN1):c.4187C>T (p.Thr1396Ile)	FBN1 (T1396I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 927659	NM_000138.5(FBN1):c.6560G>A (p.Gly2187Asp)	FBN1 (G2187D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 927657	NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val)	FBN1 (G1397V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 926962	NM_000138.5(FBN1):c.1747C>T (p.Leu583Phe)	FBN1 (L583F)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GConflicting classifications of pathogenicity
Select item 926701	NM_000138.5(FBN1):c.1562G>A (p.Ser521Asn)	FBN1 (S521N)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GConflicting classifications of pathogenicity
Select item 926148	NM_000138.5(FBN1):c.2858T>C (p.Ile953Thr)	FBN1 (I953T)	Single nucleotide variant (missense variant)	Stiff skin syndrome +8 more	GUncertain significance
Select item 926085	NM_000138.5(FBN1):c.3869T>C (p.Ile1290Thr)	FBN1 (I1290T)	Single nucleotide variant (missense variant)	Stiff skin syndrome +8 more	GUncertain significance
Select item 926028	NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His)	FBN1 (Y1696H)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GConflicting classifications of pathogenicity
Select item 925903	NM_000138.5(FBN1):c.806T>C (p.Phe269Ser)	FBN1 (F269S)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +9 more	GUncertain significance
Select item 925725	NM_000138.5(FBN1):c.2208T>G (p.Asn736Lys)	FBN1 (N736K)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 925249	NM_000138.5(FBN1):c.5876A>G (p.Asn1959Ser)	FBN1 (N1959S)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GConflicting classifications of pathogenicity
Select item 925197	NM_000138.5(FBN1):c.6725G>A (p.Arg2242His)	FBN1 (R2242H)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +8 more	GUncertain significance
Select item 925193	NM_000138.5(FBN1):c.3026C>T (p.Pro1009Leu)	FBN1 (P1009L)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +9 more	GUncertain significance
Select item 925148	NM_000138.5(FBN1):c.359A>T (p.Asn120Ile)	FBN1 (N120I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +9 more	GConflicting classifications of pathogenicity
Select item 925107	NM_000138.5(FBN1):c.5711C>T (p.Thr1904Ile)	FBN1 (T1904I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GUncertain significance
Select item 925058	NM_000138.5(FBN1):c.5464G>A (p.Ala1822Thr)	FBN1 (A1822T)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +9 more	GUncertain significance
Select item 925008	NM_000138.5(FBN1):c.4328C>T (p.Ala1443Val)	LOC126862124, FBN1 (A1443V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 924771	NM_000138.5(FBN1):c.2344A>G (p.Arg782Gly)	FBN1 (R782G)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GUncertain significance
Select item 923954	NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu)	FBN1 (D2485E)	Single nucleotide variant (missense variant)	not specified +10 more	GUncertain significance
Select item 923819	NM_000138.5(FBN1):c.4787G>A (p.Arg1596Gln)	FBN1 (R1596Q)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 923469	NM_000138.5(FBN1):c.5312G>A (p.Arg1771Gln)	FBN1 (R1771Q)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GConflicting classifications of pathogenicity
Select item 923073	NM_000138.5(FBN1):c.1529C>T (p.Ser510Leu)	FBN1 (S510L)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +9 more	GUncertain significance
Select item 922913	NM_000138.5(FBN1):c.4152G>A (p.Met1384Ile)	FBN1 (M1384I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GConflicting classifications of pathogenicity
Select item 922761	NM_000138.5(FBN1):c.7189A>G (p.Met2397Val)	FBN1 (M2397V)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GConflicting classifications of pathogenicity
Select item 922752	NM_000138.5(FBN1):c.8401G>C (p.Asp2801His)	FBN1 (D2801H)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 922499	NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg)	FBN1 (Q874R)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +9 more	GUncertain significance
Select item 922383	NM_000138.5(FBN1):c.8537A>G (p.Glu2846Gly)	FBN1 (E2846G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +9 more	GUncertain significance
Select item 922245	NM_000138.5(FBN1):c.639C>T (p.Val213=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +9 more	GLikely benign
Select item 922236	NM_000138.5(FBN1):c.4294G>A (p.Asp1432Asn)	FBN1, LOC126862124 (D1432N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GUncertain significance
Select item 922079	NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)	FBN1 (R1388L)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GUncertain significance
Select item 921917	NM_000138.5(FBN1):c.5963C>T (p.Thr1988Ile)	FBN1 (T1988I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +8 more	GConflicting classifications of pathogenicity
Select item 921344	NM_000138.5(FBN1):c.3766A>G (p.Asn1256Asp)	FBN1 (N1256D)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +3 more	GConflicting classifications of pathogenicity
Select item 921097	NM_000138.5(FBN1):c.778G>A (p.Gly260Arg)	FBN1 (G260R)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 921089	NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln)	FBN1 (R2394Q)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 920583	NM_000138.5(FBN1):c.5875A>G (p.Asn1959Asp)	FBN1 (N1959D)	Single nucleotide variant (missense variant)	Marfan syndrome +9 more	GUncertain significance
Select item 919909	NM_000138.5(FBN1):c.796G>A (p.Val266Ile)	FBN1 (V266I)	Single nucleotide variant (missense variant)	Marfan syndrome +8 more	GUncertain significance
Select item 919888	NM_000138.5(FBN1):c.1118C>T (p.Ala373Val)	FBN1, LOC113939944 (A373V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 919826	NM_000138.5(FBN1):c.7547C>T (p.Thr2516Ile)	FBN1 (T2516I)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +8 more	GUncertain significance
Select item 919582	NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp)	FBN1 (R539W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +10 more	GUncertain significance

<< First< Prev

Page of 6