ClinVar for MedGen (Select 67391) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25063641.	NM_001999.4(FBN2):c.3425G>A (p.Cys1142Tyr) GRCh37: Chr5:127674672 GRCh38: Chr5:128338980	FBN2	C1142Y	Congenital contractural arachnodactyly	Likely pathogenic (Jun 15, 2023)	criteria provided, single submitter
Select item 25017472.	NM_001999.4(FBN2):c.1800delinsTT (p.Ile601fs) GRCh37: Chr5:127713494 GRCh38: Chr5:128377801	FBN2	I601fs	Macular degeneration, early-onset, Congenital contractural arachnodactyly	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24443413.	NM_001999.4(FBN2):c.4594G>T (p.Asp1532Tyr) GRCh37: Chr5:127654571 GRCh38: Chr5:128318879	FBN2	D1532Y	Congenital contractural arachnodactyly	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24315414.	NM_001999.4(FBN2):c.4961G>T (p.Cys1654Phe) GRCh37: Chr5:127647105 GRCh38: Chr5:128311413	FBN2	C1654F	Congenital contractural arachnodactyly	Uncertain significance (Jan 30, 2023)	criteria provided, single submitter
Select item 24314155.	NM_001999.4(FBN2):c.3974-9A>G GRCh37: Chr5:127670545 GRCh38: Chr5:128334853	FBN2		Congenital contractural arachnodactyly	Likely pathogenic (Jun 17, 2022)	criteria provided, single submitter
Select item 24243426.	NC_000005.9:g.(?_127712503)_(127716032_?)del GRCh37: Chr5:127712503-127716032	FBN2		Congenital contractural arachnodactyly	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 24243417.	NC_000005.9:g.(?_127689859)_(127693060_?)del GRCh37: Chr5:127689859-127693060	FBN2		Congenital contractural arachnodactyly	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 24243398.	NC_000005.9:g.(?_127595147)_(127873296_?)del GRCh37: Chr5:127595147-127873296	FBN2		Congenital contractural arachnodactyly	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 24207159.	NM_001999.4(FBN2):c.5078T>G (p.Ile1693Ser) GRCh37: Chr5:127645797 GRCh38: Chr5:128310105	FBN2	I1693S	Congenital contractural arachnodactyly	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 241984910.	NM_001999.4(FBN2):c.6165T>G (p.Ile2055Met) GRCh37: Chr5:127636510 GRCh38: Chr5:128300818	FBN2	I2055M	Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Dec 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241929511.	NM_001999.4(FBN2):c.7012+18G>T GRCh37: Chr5:127622392 GRCh38: Chr5:128286700	FBN2		Congenital contractural arachnodactyly	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 241806412.	NM_001999.4(FBN2):c.1145G>C (p.Arg382Thr) GRCh37: Chr5:127730901 GRCh38: Chr5:128395208	FBN2	R382T	Congenital contractural arachnodactyly	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 241750713.	NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe) GRCh37: Chr5:127595329 GRCh38: Chr5:128259637	FBN2	L2853F	Congenital contractural arachnodactyly	Benign (Jun 26, 2022)	criteria provided, single submitter
Select item 241695614.	NM_001999.4(FBN2):c.282C>T (p.His94=) GRCh37: Chr5:127872150 GRCh38: Chr5:128536457	FBN2		Congenital contractural arachnodactyly	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 241672115.	NM_001999.4(FBN2):c.3128C>A (p.Pro1043His) GRCh37: Chr5:127681138 GRCh38: Chr5:128345446	FBN2, LOC126807501	P1043H	Congenital contractural arachnodactyly	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 241380916.	NM_001999.4(FBN2):c.1797G>A (p.Gln599=) GRCh37: Chr5:127713497 GRCh38: Chr5:128377804	FBN2		Congenital contractural arachnodactyly	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 241350317.	NM_001999.4(FBN2):c.8034C>T (p.Cys2678=) GRCh37: Chr5:127599275 GRCh38: Chr5:128263583	FBN2		Congenital contractural arachnodactyly	Benign (May 24, 2022)	criteria provided, single submitter
Select item 220130318.	NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu) GRCh37: Chr5:127673807 GRCh38: Chr5:128338115	FBN2	D1160E	not provided, Congenital contractural arachnodactyly	Conflicting interpretations of pathogenicity (May 19, 2023)	criteria provided, conflicting interpretations
Select item 219980919.	NM_001999.4(FBN2):c.6167-12C>T GRCh37: Chr5:127627358 GRCh38: Chr5:128291666	FBN2		Congenital contractural arachnodactyly	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 219903520.	NM_001999.4(FBN2):c.7595-15T>C GRCh37: Chr5:127610390 GRCh38: Chr5:128274698	FBN2		Congenital contractural arachnodactyly	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 219859421.	NM_001999.4(FBN2):c.338C>T (p.Pro113Leu) GRCh37: Chr5:127866386 GRCh38: Chr5:128530693	FBN2	P113L	Congenital contractural arachnodactyly	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 219816422.	NM_001999.4(FBN2):c.676C>G (p.Gln226Glu) GRCh37: Chr5:127800567 GRCh38: Chr5:128464874	FBN2	Q226E	Congenital contractural arachnodactyly	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 219777723.	NM_001999.4(FBN2):c.2675-20C>T GRCh37: Chr5:127686717 GRCh38: Chr5:128351025	FBN2		not specified, Congenital contractural arachnodactyly	Conflicting interpretations of pathogenicity (Jul 21, 2023)	criteria provided, conflicting interpretations
Select item 219508724.	NM_001999.4(FBN2):c.5704G>T (p.Val1902Phe) GRCh37: Chr5:127640745 GRCh38: Chr5:128305053	FBN2	V1902F	Congenital contractural arachnodactyly	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 219497325.	NM_001999.4(FBN2):c.102G>A (p.Pro34=) GRCh37: Chr5:127873195 GRCh38: Chr5:128537502	FBN2		Congenital contractural arachnodactyly	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 219283426.	NM_001999.4(FBN2):c.2839A>G (p.Arg947Gly) GRCh37: Chr5:127685671 GRCh38: Chr5:128349979	FBN2	R947G	Congenital contractural arachnodactyly	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 219125827.	NM_001999.4(FBN2):c.5775T>C (p.Ala1925=) GRCh37: Chr5:127640674 GRCh38: Chr5:128304982	FBN2		Congenital contractural arachnodactyly	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 218978628.	NM_001999.4(FBN2):c.349_352del (p.Asn117fs) GRCh37: Chr5:127866372-127866375 GRCh38: Chr5:128530679-128530682	FBN2	N117fs	Congenital contractural arachnodactyly	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 218875029.	NM_001999.4(FBN2):c.3885T>C (p.Asp1295=) GRCh37: Chr5:127670950 GRCh38: Chr5:128335258	FBN2		Congenital contractural arachnodactyly	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 218750530.	NM_001999.4(FBN2):c.8467C>A (p.Pro2823Thr) GRCh37: Chr5:127595419 GRCh38: Chr5:128259727	FBN2	P2823T	Congenital contractural arachnodactyly	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 218703331.	NM_001999.4(FBN2):c.3217+12C>T GRCh37: Chr5:127681037 GRCh38: Chr5:128345345	FBN2, LOC126807501		Congenital contractural arachnodactyly	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 218465732.	NM_001999.4(FBN2):c.7012+13G>A GRCh37: Chr5:127622397 GRCh38: Chr5:128286705	FBN2		Congenital contractural arachnodactyly	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 218460133.	NM_001999.4(FBN2):c.6880+16C>T GRCh37: Chr5:127622984 GRCh38: Chr5:128287292	FBN2		Congenital contractural arachnodactyly	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 218445034.	NM_001999.4(FBN2):c.6195C>T (p.Asn2065=) GRCh37: Chr5:127627318 GRCh38: Chr5:128291626	FBN2		Congenital contractural arachnodactyly	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 218320035.	NM_001999.4(FBN2):c.7575G>T (p.Glu2525Asp) GRCh37: Chr5:127611749 GRCh38: Chr5:128276057	FBN2	E2525D	Congenital contractural arachnodactyly	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 218318136.	NM_001999.4(FBN2):c.1295C>A (p.Ser432Tyr) GRCh37: Chr5:127728998 GRCh38: Chr5:128393305	FBN2	S432Y	Congenital contractural arachnodactyly	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 218237637.	NM_001999.4(FBN2):c.5242A>G (p.Thr1748Ala) GRCh37: Chr5:127645050 GRCh38: Chr5:128309358	FBN2	T1748A	Congenital contractural arachnodactyly	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 218041038.	NM_001999.4(FBN2):c.3668A>G (p.Tyr1223Cys) GRCh37: Chr5:127671736 GRCh38: Chr5:128336044	FBN2	Y1223C	Congenital contractural arachnodactyly	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 217839739.	NM_001999.4(FBN2):c.6281G>A (p.Arg2094Gln) GRCh37: Chr5:127627232 GRCh38: Chr5:128291540	FBN2	R2094Q	Congenital contractural arachnodactyly	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 217689640.	NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr) GRCh37: Chr5:127664393 GRCh38: Chr5:128328701	FBN2	C1489Y	Congenital contractural arachnodactyly	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 217687841.	NM_001999.4(FBN2):c.112C>T (p.Pro38Ser) GRCh37: Chr5:127873185 GRCh38: Chr5:128537492	FBN2	P38S	Congenital contractural arachnodactyly	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 217442442.	NM_001999.4(FBN2):c.4681G>A (p.Asp1561Asn) GRCh37: Chr5:127653877 GRCh38: Chr5:128318185	FBN2	D1561N	Congenital contractural arachnodactyly	Benign (Jun 1, 2022)	criteria provided, single submitter
Select item 217229443.	NM_001999.4(FBN2):c.3866A>G (p.Asn1289Ser) GRCh37: Chr5:127670969 GRCh38: Chr5:128335277	FBN2	N1289S	Congenital contractural arachnodactyly	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 217087544.	NM_001999.4(FBN2):c.6570C>T (p.Thr2190=) GRCh37: Chr5:127624886 GRCh38: Chr5:128289194	FBN2		Congenital contractural arachnodactyly	Benign (Feb 9, 2022)	criteria provided, single submitter
Select item 217018945.	NM_001999.4(FBN2):c.1724-14C>A GRCh37: Chr5:127713584 GRCh38: Chr5:128377891	FBN2		Congenital contractural arachnodactyly	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 216984046.	NM_001999.4(FBN2):c.1603+19A>G GRCh37: Chr5:127727692 GRCh38: Chr5:128391999	FBN2		Congenital contractural arachnodactyly	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 216862547.	NM_001999.4(FBN2):c.8635AAG[2] (p.Lys2881del) GRCh37: Chr5:127595243-127595245 GRCh38: Chr5:128259551-128259553	FBN2	K2881del	Congenital contractural arachnodactyly	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 216785448.	NM_001999.4(FBN2):c.7560G>C (p.Gly2520=) GRCh37: Chr5:127611764 GRCh38: Chr5:128276072	FBN2		Congenital contractural arachnodactyly	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 216452949.	NM_001999.4(FBN2):c.1075A>G (p.Ile359Val) GRCh37: Chr5:127744370 GRCh38: Chr5:128408677	FBN2	I359V	Congenital contractural arachnodactyly	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 216450550.	NM_001999.4(FBN2):c.4444C>G (p.Pro1482Ala) GRCh37: Chr5:127664415 GRCh38: Chr5:128328723	FBN2	P1482A	Congenital contractural arachnodactyly	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 216436151.	NM_001999.4(FBN2):c.3010T>C (p.Tyr1004His) GRCh37: Chr5:127681256 GRCh38: Chr5:128345564	FBN2, LOC126807501	Y1004H	Congenital contractural arachnodactyly	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 216299752.	NM_001999.4(FBN2):c.2140G>A (p.Val714Met) GRCh37: Chr5:127704983 GRCh38: Chr5:128369290	FBN2	V714M	Congenital contractural arachnodactyly	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 216228453.	NM_001999.4(FBN2):c.6619A>C (p.Thr2207Pro) GRCh37: Chr5:127624837 GRCh38: Chr5:128289145	FBN2	T2207P	Congenital contractural arachnodactyly	Uncertain significance (Dec 12, 2021)	criteria provided, single submitter
Select item 216216154.	NM_001999.4(FBN2):c.5240C>G (p.Thr1747Ser) GRCh37: Chr5:127645052 GRCh38: Chr5:128309360	FBN2	T1747S	Congenital contractural arachnodactyly	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 216123255.	NM_001999.4(FBN2):c.1030G>T (p.Val344Phe) GRCh37: Chr5:127744415 GRCh38: Chr5:128408722	FBN2	V344F	Congenital contractural arachnodactyly	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 216106156.	NM_001999.4(FBN2):c.628+8G>A GRCh37: Chr5:127854958 GRCh38: Chr5:128519265	FBN2		Congenital contractural arachnodactyly	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 216048557.	NM_001999.4(FBN2):c.2302+16C>A GRCh37: Chr5:127702054 GRCh38: Chr5:128366361	FBN2		Congenital contractural arachnodactyly	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 215889958.	NM_001999.4(FBN2):c.7449C>T (p.Asp2483=) GRCh37: Chr5:127613594 GRCh38: Chr5:128277902	FBN2		Congenital contractural arachnodactyly	Benign (Apr 30, 2022)	criteria provided, single submitter
Select item 215888859.	NM_001999.4(FBN2):c.363T>C (p.Asp121=) GRCh37: Chr5:127866361 GRCh38: Chr5:128530668	FBN2		Congenital contractural arachnodactyly	Benign (Sep 22, 2022)	criteria provided, single submitter
Select item 215821760.	NM_001999.4(FBN2):c.7444A>G (p.Thr2482Ala) GRCh37: Chr5:127613599 GRCh38: Chr5:128277907	FBN2	T2482A	Congenital contractural arachnodactyly	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 215753361.	NM_001999.4(FBN2):c.2555-20C>G GRCh37: Chr5:127693107 GRCh38: Chr5:128357415	FBN2		Congenital contractural arachnodactyly	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 215679162.	NM_001999.4(FBN2):c.7595-12C>G GRCh37: Chr5:127610387 GRCh38: Chr5:128274695	FBN2		Congenital contractural arachnodactyly	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 215606463.	NM_001999.4(FBN2):c.2060G>A (p.Gly687Asp) GRCh37: Chr5:127710356 GRCh38: Chr5:128374663	FBN2	G687D	Congenital contractural arachnodactyly	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 215588664.	NM_001999.4(FBN2):c.7495C>A (p.Pro2499Thr) GRCh37: Chr5:127611829 GRCh38: Chr5:128276137	FBN2	P2499T	Congenital contractural arachnodactyly	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 215489465.	NM_001999.4(FBN2):c.8313T>C (p.Ser2771=) GRCh37: Chr5:127597479 GRCh38: Chr5:128261787	FBN2		Congenital contractural arachnodactyly	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 215462066.	NM_001999.4(FBN2):c.5450G>T (p.Gly1817Val) GRCh37: Chr5:127641613 GRCh38: Chr5:128305921	FBN2	G1817V	Congenital contractural arachnodactyly	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 215298467.	NM_001999.4(FBN2):c.1512T>G (p.Leu504=) GRCh37: Chr5:127727802 GRCh38: Chr5:128392109	FBN2		Congenital contractural arachnodactyly	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 215237768.	NM_001999.4(FBN2):c.5565C>T (p.Ser1855=) GRCh37: Chr5:127641312 GRCh38: Chr5:128305620	FBN2		Congenital contractural arachnodactyly	Benign (Feb 13, 2022)	criteria provided, single submitter
Select item 215097269.	NM_001999.4(FBN2):c.878T>C (p.Ile293Thr) GRCh37: Chr5:127782248 GRCh38: Chr5:128446555	FBN2	I293T	Congenital contractural arachnodactyly	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 215092870.	NM_001999.4(FBN2):c.254+20C>G GRCh37: Chr5:127873023 GRCh38: Chr5:128537330	FBN2		Congenital contractural arachnodactyly	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 215046271.	NM_001999.4(FBN2):c.1954A>G (p.Asn652Asp) GRCh37: Chr5:127712442 GRCh38: Chr5:128376749	FBN2	N652D	Congenital contractural arachnodactyly	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 215029372.	NM_001999.4(FBN2):c.1232-8T>C GRCh37: Chr5:127729069 GRCh38: Chr5:128393376	FBN2		Congenital contractural arachnodactyly	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 214891573.	NM_001999.4(FBN2):c.6757+9T>C GRCh37: Chr5:127624121 GRCh38: Chr5:128288429	FBN2		Congenital contractural arachnodactyly	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 214866474.	NM_001999.4(FBN2):c.18G>A (p.Arg6=) GRCh37: Chr5:127873279 GRCh38: Chr5:128537586	FBN2		Congenital contractural arachnodactyly	Benign (Oct 14, 2022)	criteria provided, single submitter
Select item 214843175.	NM_001999.4(FBN2):c.4665G>A (p.Glu1555=) GRCh37: Chr5:127653893 GRCh38: Chr5:128318201	FBN2		Congenital contractural arachnodactyly	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 214758176.	NM_001999.4(FBN2):c.251G>C (p.Arg84Pro) GRCh37: Chr5:127873046 GRCh38: Chr5:128537353	FBN2	R84P	Congenital contractural arachnodactyly	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 214731077.	NM_001999.4(FBN2):c.5674+12G>A GRCh37: Chr5:127641191 GRCh38: Chr5:128305499	FBN2		Congenital contractural arachnodactyly	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 214560078.	NM_001999.4(FBN2):c.2800C>T (p.Arg934Trp) GRCh37: Chr5:127686572 GRCh38: Chr5:128350880	FBN2	R934W	Congenital contractural arachnodactyly	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 214531579.	NM_001999.4(FBN2):c.1490T>C (p.Ile497Thr) GRCh37: Chr5:127727824 GRCh38: Chr5:128392131	FBN2	I497T	Congenital contractural arachnodactyly	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 214502380.	NM_001999.4(FBN2):c.1759A>G (p.Lys587Glu) GRCh37: Chr5:127713535 GRCh38: Chr5:128377842	FBN2	K587E	Congenital contractural arachnodactyly	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 214438981.	NM_001999.4(FBN2):c.8529C>T (p.Ser2843=) GRCh37: Chr5:127595357 GRCh38: Chr5:128259665	FBN2		Familial thoracic aortic aneurysm and aortic dissection, Congenital contractural arachnodactyly	Likely benign (May 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214424282.	NM_001999.4(FBN2):c.4135G>A (p.Asp1379Asn) GRCh37: Chr5:127668691 GRCh38: Chr5:128332999	FBN2	D1379N	Congenital contractural arachnodactyly	Benign (Apr 10, 2022)	criteria provided, single submitter
Select item 214270283.	NM_001999.4(FBN2):c.3900C>A (p.Thr1300=) GRCh37: Chr5:127670935 GRCh38: Chr5:128335243	FBN2		Congenital contractural arachnodactyly	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 214253784.	NM_001999.4(FBN2):c.6446-15T>C GRCh37: Chr5:127625654 GRCh38: Chr5:128289962	FBN2		Congenital contractural arachnodactyly	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 214250585.	NM_001999.4(FBN2):c.953-18_953-16del GRCh37: Chr5:127744508-127744510 GRCh38: Chr5:128408815-128408817	FBN2		Congenital contractural arachnodactyly	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 214220186.	NM_001999.4(FBN2):c.6147A>G (p.Val2049=) GRCh37: Chr5:127636528 GRCh38: Chr5:128300836	FBN2		Congenital contractural arachnodactyly	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 214182487.	NM_001999.4(FBN2):c.6292+11G>C GRCh37: Chr5:127627210 GRCh38: Chr5:128291518	FBN2		Congenital contractural arachnodactyly	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 214162888.	NM_001999.4(FBN2):c.1275A>T (p.Gly425=) GRCh37: Chr5:127729018 GRCh38: Chr5:128393325	FBN2		Congenital contractural arachnodactyly	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 214127389.	NM_001999.4(FBN2):c.5201-17dup GRCh37: Chr5:127645107-127645108 GRCh38: Chr5:128309415-128309416	FBN2		Congenital contractural arachnodactyly	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 213983890.	NM_001999.4(FBN2):c.5675-17A>G GRCh37: Chr5:127640791 GRCh38: Chr5:128305099	FBN2		Congenital contractural arachnodactyly	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 213888891.	NM_001999.4(FBN2):c.6757+8A>T GRCh37: Chr5:127624122 GRCh38: Chr5:128288430	FBN2		Congenital contractural arachnodactyly	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 213811592.	NM_001999.4(FBN2):c.6924G>A (p.Arg2308=) GRCh37: Chr5:127622498 GRCh38: Chr5:128286806	FBN2		Congenital contractural arachnodactyly	Benign (Sep 21, 2022)	criteria provided, single submitter
Select item 213632993.	NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys) GRCh37: Chr5:127673752 GRCh38: Chr5:128338060	FBN2	G1179C	Congenital contractural arachnodactyly	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 213632894.	NM_001999.4(FBN2):c.4222G>A (p.Asp1408Asn) GRCh37: Chr5:127668604 GRCh38: Chr5:128332912	FBN2	D1408N	Congenital contractural arachnodactyly	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 213332995.	NM_001999.4(FBN2):c.714G>C (p.Leu238=) GRCh37: Chr5:127800529 GRCh38: Chr5:128464836	FBN2		Congenital contractural arachnodactyly	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213092696.	NM_001999.4(FBN2):c.4710T>C (p.Gly1570=) GRCh37: Chr5:127653848 GRCh38: Chr5:128318156	FBN2		Congenital contractural arachnodactyly	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 212869797.	NM_001999.4(FBN2):c.1316del (p.Gly439fs) GRCh37: Chr5:127728977 GRCh38: Chr5:128393284	FBN2	G439fs	Congenital contractural arachnodactyly	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 212783198.	NM_001999.4(FBN2):c.4472-3C>T GRCh37: Chr5:127654696 GRCh38: Chr5:128319004	FBN2		Congenital contractural arachnodactyly	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 212661999.	NM_001999.4(FBN2):c.5745C>T (p.Tyr1915=) GRCh37: Chr5:127640704 GRCh38: Chr5:128305012	FBN2		Congenital contractural arachnodactyly	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 2124989100.	NM_001999.4(FBN2):c.4487C>T (p.Ser1496Phe) GRCh37: Chr5:127654678 GRCh38: Chr5:128318986	FBN2	S1496F	Congenital contractural arachnodactyly	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter

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