3604[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 58357	GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1	ALDH7A1, C5orf63 +49 more	Copy number loss	See cases	GPathogenic
Select item 350726	NM_001999.4(FBN2):c.*1532G>A	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 904474	NM_001999.4(FBN2):c.*1507A>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350727	NM_001999.4(FBN2):c.1420_1421dup	FBN2	Duplication (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350728	NM_001999.4(FBN2):c.*1420A>C	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350729	NM_001999.4(FBN2):c.*1415G>A	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 350730	NM_001999.4(FBN2):c.*1315C>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350731	NM_001999.4(FBN2):c.*1277G>A	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 350732	NM_001999.4(FBN2):c.*1239A>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350733	NM_001999.4(FBN2):c.*1191C>T	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 350734	NM_001999.4(FBN2):c.*1132A>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 350735	NM_001999.4(FBN2):c.*1118T>C	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350737	NM_001999.4(FBN2):c.*1111C>A	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350736	NM_001999.4(FBN2):c.*1111C>T	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 905254	NM_001999.4(FBN2):c.*1102G>A	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350738	NM_001999.4(FBN2):c.*1050GTT[6]	FBN2	Microsatellite (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 905255	NM_001999.4(FBN2):c.*1009A>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 905256	NM_001999.4(FBN2):c.*962C>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 905257	NM_001999.4(FBN2):c.*879C>T	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350739	NM_001999.4(FBN2):c.*819A>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 350740	NM_001999.4(FBN2):c.*745C>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350741	NM_001999.4(FBN2):c.*733T>A	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 906852	NM_001999.4(FBN2):c.*716A>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 906853	NM_001999.4(FBN2):c.*686C>T	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350742	NM_001999.4(FBN2):c.*671G>A	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 906854	NM_001999.4(FBN2):c.*642A>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350743	NM_001999.4(FBN2):c.*635A>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 350744	NM_001999.4(FBN2):c.*557C>T	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350745	NM_001999.4(FBN2):c.*514A>C	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 350746	NM_001999.4(FBN2):c.*372del	FBN2	Deletion (3 prime UTR variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 350747	NM_001999.4(FBN2):c.*371T>G	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 350749	NM_001999.4(FBN2):c.322_323dup	FBN2	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 350748	NM_001999.4(FBN2):c.*323dup	FBN2	Duplication (3 prime UTR variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 350750	NM_001999.4(FBN2):c.*284C>T	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 907846	NM_001999.4(FBN2):c.*274C>T	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 350751	NM_001999.4(FBN2):c.*273T>C	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 350752	NM_001999.4(FBN2):c.*244T>C	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 907847	NM_001999.4(FBN2):c.*234T>C	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 350753	NM_001999.4(FBN2):c.*119C>T	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GBenign
Select item 350754	NM_001999.4(FBN2):c.*93TAA[2]	FBN2	Microsatellite (3 prime UTR variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 350755	NM_001999.4(FBN2):c.*100A>C	FBN2	Single nucleotide variant (3 prime UTR variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2707170	NM_001999.4(FBN2):c.8737T>G (p.Ter2913Glu)	FBN2	Single nucleotide variant (stop lost)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2915766	NM_001999.4(FBN2):c.8734T>C (p.Tyr2912His)	FBN2 (Y2912H)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 137357	NM_001999.4(FBN2):c.8733C>G (p.Leu2911=)	FBN2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +5 more	GBenign
Select item 641578	NM_001999.4(FBN2):c.8731C>A (p.Leu2911Ile)	FBN2 (L2911I)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 904534	NM_001999.4(FBN2):c.8729A>G (p.Gln2910Arg)	FBN2 (Q2910R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 1569719	NM_001999.4(FBN2):c.8705C>A (p.Ala2902Asp)	FBN2 (A2902D)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 1099234	NM_001999.4(FBN2):c.8703G>A (p.Glu2901=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 213378	NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)	FBN2 (E2901K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1901956	NM_001999.4(FBN2):c.8695C>G (p.Leu2899Val)	FBN2 (L2899V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 234749	NM_001999.4(FBN2):c.8692G>T (p.Glu2898Ter)	FBN2 (E2898*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 698086	NM_001999.4(FBN2):c.8691G>A (p.Gly2897=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1620417	NM_001999.4(FBN2):c.8688A>G (p.Leu2896=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1764292	NM_001999.4(FBN2):c.8682C>T (p.Tyr2894=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1214720	NM_001999.4(FBN2):c.8681A>C (p.Tyr2894Ser)	FBN2 (Y2894S)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GUncertain significance
Select item 935217	NM_001999.4(FBN2):c.8681A>G (p.Tyr2894Cys)	FBN2 (Y2894C)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GUncertain significance
Select item 213432	NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val)	FBN2 (D2893V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1010010	NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn)	FBN2 (D2893N)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 994415	NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)	FBN2 (D2892G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +2 more	GConflicting classifications of pathogenicity
Select item 213377	NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr)	FBN2 (D2892Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 3221982	NM_001999.4(FBN2):c.8673G>A (p.Glu2891=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 576355	NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp)	FBN2 (N2890D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1764230	NM_001999.4(FBN2):c.8667C>T (p.Ser2889=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1482063	NM_001999.4(FBN2):c.8666G>A (p.Ser2889Asn)	FBN2 (S2889N)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 2911742	NM_001999.4(FBN2):c.8664G>C (p.Glu2888Asp)	FBN2 (E2888D)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 3253487	NM_001999.4(FBN2):c.8650A>C (p.Lys2884Gln)	FBN2 (K2884Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 213431	NM_001999.4(FBN2):c.8648T>C (p.Leu2883Pro)	FBN2 (L2883P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3221981	NM_001999.4(FBN2):c.8646G>A (p.Glu2882=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 213430	NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln)	FBN2 (E2882Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2168625	NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del)	FBN2 (K2881del)	Microsatellite (inframe_deletion)	Congenital contractural arachnodactyly	GUncertain significance
Select item 1764140	NM_001999.4(FBN2):c.8643G>A (p.Lys2881=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1477729	NM_001999.4(FBN2):c.8639A>G (p.Lys2880Arg)	FBN2 (K2880R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 1764080	NM_001999.4(FBN2):c.8625C>A (p.Ile2875=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 528418	NM_001999.4(FBN2):c.8623A>G (p.Ile2875Val)	FBN2 (I2875V)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 1970217	NM_001999.4(FBN2):c.8607A>G (p.Thr2869=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 850304	NM_001999.4(FBN2):c.8606C>A (p.Thr2869Lys)	FBN2 (T2869K)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 350756	NM_001999.4(FBN2):c.8601A>G (p.Thr2867=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GUncertain significance
Select item 263471	NM_001999.4(FBN2):c.8597G>T (p.Gly2866Val)	FBN2 (G2866V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 634470	NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)	FBN2 (G2866S)	Single nucleotide variant (missense variant)	Macular degeneration, early-onset +3 more	GConflicting classifications of pathogenicity
Select item 383156	NM_001999.4(FBN2):c.8595C>T (p.Pro2865=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +2 more	GLikely benign
Select item 263395	NM_001999.4(FBN2):c.8589C>T (p.Leu2863=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GLikely benign
Select item 1899477	NM_001999.4(FBN2):c.8587C>T (p.Leu2863Phe)	FBN2 (L2863F)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 2754384	NM_001999.4(FBN2):c.8585A>C (p.Lys2862Thr)	FBN2 (K2862T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2880041	NM_001999.4(FBN2):c.8584A>C (p.Lys2862Gln)	FBN2 (K2862Q)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 350757	NM_001999.4(FBN2):c.8574G>A (p.Thr2858=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1305089	NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met)	FBN2 (T2858M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1763837	NM_001999.4(FBN2):c.8559C>G (p.Leu2853=)	FBN2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 680879	NM_001999.4(FBN2):c.8559C>T (p.Leu2853=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly +1 more	GBenign/Likely benign
Select item 2417507	NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)	FBN2 (L2853F)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GBenign
Select item 2798531	NM_001999.4(FBN2):c.8556G>A (p.Gly2852=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GBenign
Select item 350758	NM_001999.4(FBN2):c.8552A>G (p.Asn2851Ser)	FBN2 (N2851S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 626104	NM_001999.4(FBN2):c.8547A>G (p.Gln2849=)	FBN2	Single nucleotide variant (synonymous variant)	Macular degeneration, early-onset +1 more	GUncertain significance
Select item 2448302	NM_001999.4(FBN2):c.8545C>G (p.Gln2849Glu)	FBN2 (Q2849E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2017795	NM_001999.4(FBN2):c.8544C>T (p.His2848=)	FBN2	Single nucleotide variant (synonymous variant)	Congenital contractural arachnodactyly	GLikely benign
Select item 1011690	NM_001999.4(FBN2):c.8543A>G (p.His2848Arg)	FBN2 (H2848R)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly	GLikely benign

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