ClinVar for MedGen (Select 381473) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25736441.	NM_000079.4(CHRNA1):c.44-1G>A GRCh37: Chr2:175624362 GRCh38: Chr2:174759634	CHRNA1		Lethal multiple pterygium syndrome	Likely pathogenic (Jun 13, 2023)	criteria provided, single submitter
Select item 25063162.	NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg) GRCh37: Chr2:233407781 GRCh38: Chr2:232543071	CHRNG	L265R	Lethal multiple pterygium syndrome	Likely pathogenic (May 1, 2023)	criteria provided, single submitter
Select item 24233903.	NC_000002.11:g.(?_233390926)_(233400022_?)del GRCh37: Chr2:233390926-233400022	CHRND		Lethal multiple pterygium syndrome	Pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 24186874.	NM_000751.3(CHRND):c.1238G>T (p.Arg413Leu) GRCh37: Chr2:233398831 GRCh38: Chr2:232534121	CHRND	R219L, R312L, R398L, R413L	Lethal multiple pterygium syndrome	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 24183045.	NM_000751.3(CHRND):c.1371+1G>T GRCh37: Chr2:233399053 GRCh38: Chr2:232534343	CHRND		Lethal multiple pterygium syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 24170406.	NM_000079.4(CHRNA1):c.989A>G (p.Asn330Ser) GRCh37: Chr2:175614687 GRCh38: Chr2:174749959	CHRNA1	N330S, N355S	Lethal multiple pterygium syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 24151807.	NM_000079.4(CHRNA1):c.222del (p.Arg75fs) GRCh37: Chr2:175624071 GRCh38: Chr2:174759343	CHRNA1	R75fs	Lethal multiple pterygium syndrome	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 22016958.	NM_000079.4(CHRNA1):c.708C>T (p.Val236=) GRCh37: Chr2:175618301 GRCh38: Chr2:174753573	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 22002649.	NM_000079.4(CHRNA1):c.998G>A (p.Arg333Gln) GRCh37: Chr2:175614678 GRCh38: Chr2:174749950	CHRNA1	R333Q, R358Q	Lethal multiple pterygium syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219956110.	NM_000751.3(CHRND):c.391G>C (p.Val131Leu) GRCh37: Chr2:233393248 GRCh38: Chr2:232528538	CHRND	V116L, V131L, V30L	Lethal multiple pterygium syndrome	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 219924611.	NM_000751.3(CHRND):c.140A>T (p.His47Leu) GRCh37: Chr2:233391326 GRCh38: Chr2:232526616	CHRND	H47L	Lethal multiple pterygium syndrome	Uncertain significance (Nov 30, 2021)	criteria provided, single submitter
Select item 219908412.	NM_000079.4(CHRNA1):c.1012G>C (p.Asp338His) GRCh37: Chr2:175613538 GRCh38: Chr2:174748810	CHRNA1	D338H, D363H	Lethal multiple pterygium syndrome	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 219786013.	NM_000751.3(CHRND):c.174C>A (p.Leu58=) GRCh37: Chr2:233391360 GRCh38: Chr2:232526650	CHRND		Lethal multiple pterygium syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 219734014.	NM_000751.3(CHRND):c.79C>T (p.Arg27Trp) GRCh37: Chr2:233391265 GRCh38: Chr2:232526555	CHRND	R27W	Lethal multiple pterygium syndrome	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 219590115.	NM_000751.3(CHRND):c.158A>G (p.Asp53Gly) GRCh37: Chr2:233391344 GRCh38: Chr2:232526634	CHRND	D53G	Lethal multiple pterygium syndrome	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 219568616.	NM_000751.3(CHRND):c.409G>A (p.Gly137Ser) GRCh37: Chr2:233393266 GRCh38: Chr2:232528556	CHRND	G137S, G36S, G122S	Lethal multiple pterygium syndrome	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 219485017.	NM_000751.3(CHRND):c.1253-13C>A GRCh37: Chr2:233398921 GRCh38: Chr2:232534211	CHRND		Lethal multiple pterygium syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 219457318.	NM_000079.4(CHRNA1):c.604C>T (p.Arg202Trp) GRCh37: Chr2:175618405 GRCh38: Chr2:174753677	CHRNA1	R202W, R227W	Lethal multiple pterygium syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219190919.	NM_000751.3(CHRND):c.211del (p.Glu71fs) GRCh37: Chr2:233392122 GRCh38: Chr2:232527412	CHRND	E71fs	Lethal multiple pterygium syndrome	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 219124120.	NM_000751.3(CHRND):c.549G>A (p.Leu183=) GRCh37: Chr2:233393611 GRCh38: Chr2:232528901	CHRND		Lethal multiple pterygium syndrome	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 219113121.	NM_000079.4(CHRNA1):c.540G>A (p.Pro180=) GRCh37: Chr2:175618947 GRCh38: Chr2:174754219	CHRNA1		Lethal multiple pterygium syndrome	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 218350922.	NM_000079.4(CHRNA1):c.1003-6T>C GRCh37: Chr2:175613553 GRCh38: Chr2:174748825	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 218141223.	NM_000751.3(CHRND):c.1203C>G (p.Phe401Leu) GRCh37: Chr2:233398796 GRCh38: Chr2:232534086	CHRND	F300L, F401L, F207L, F386L	not provided, Lethal multiple pterygium syndrome	Uncertain significance (Mar 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216950824.	NM_000751.3(CHRND):c.59G>A (p.Trp20Ter) GRCh37: Chr2:233391245 GRCh38: Chr2:232526535	CHRND	W20*	Lethal multiple pterygium syndrome	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 216922925.	NM_000751.3(CHRND):c.912G>A (p.Met304Ile) GRCh37: Chr2:233396153 GRCh38: Chr2:232531443	CHRND	M203I, M289I, M304I, M110I	Lethal multiple pterygium syndrome	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 216794226.	NM_000079.4(CHRNA1):c.778+4G>T GRCh37: Chr2:175618227 GRCh38: Chr2:174753499	CHRNA1		Lethal multiple pterygium syndrome	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 216522327.	NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala) GRCh37: Chr2:175619111 GRCh38: Chr2:174754383	CHRNA1	T126A, T151A	Lethal multiple pterygium syndrome	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 216422128.	NM_000751.3(CHRND):c.1298A>G (p.Asn433Ser) GRCh37: Chr2:233398979 GRCh38: Chr2:232534269	CHRND	N332S, N433S, N418S, N239S	Lethal multiple pterygium syndrome	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 216299129.	NM_000751.3(CHRND):c.1107del (p.Ser370fs) GRCh37: Chr2:233398698 GRCh38: Chr2:232533988	CHRND	S269fs, S370fs, S176fs, S355fs	Lethal multiple pterygium syndrome, Congenital myasthenic syndrome 3B	Pathogenic/Likely pathogenic (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215889730.	NM_000751.3(CHRND):c.52+15C>A GRCh37: Chr2:233390992 GRCh38: Chr2:232526282	CHRND		Lethal multiple pterygium syndrome	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 215768731.	NM_000079.4(CHRNA1):c.1243-7C>T GRCh37: Chr2:175612990 GRCh38: Chr2:174748262	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 215673432.	NM_000751.3(CHRND):c.198+13C>G GRCh37: Chr2:233391397 GRCh38: Chr2:232526687	CHRND		Lethal multiple pterygium syndrome	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 215108033.	NM_000751.3(CHRND):c.820+5G>A GRCh37: Chr2:233394854 GRCh38: Chr2:232530144	CHRND		Lethal multiple pterygium syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 215107234.	NM_000079.4(CHRNA1):c.1245G>C (p.Ala415=) GRCh37: Chr2:175612981 GRCh38: Chr2:174748253	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 214830835.	NM_000751.3(CHRND):c.180C>T (p.Leu60=) GRCh37: Chr2:233391366 GRCh38: Chr2:232526656	CHRND		Lethal multiple pterygium syndrome	Likely benign (Dec 6, 2021)	criteria provided, single submitter
Select item 214789336.	NM_000751.3(CHRND):c.1186C>T (p.Arg396Cys) GRCh37: Chr2:233398779 GRCh38: Chr2:232534069	CHRND	R202C, R381C, R396C, R295C	Lethal multiple pterygium syndrome, not provided	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 214602937.	NM_000751.3(CHRND):c.650C>T (p.Pro217Leu) GRCh37: Chr2:233394679 GRCh38: Chr2:232529969	CHRND	P217L, P202L, P116L	Lethal multiple pterygium syndrome	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 214435038.	NM_000751.3(CHRND):c.628G>T (p.Glu210Ter) GRCh37: Chr2:233394657 GRCh38: Chr2:232529947	CHRND	E109, E195, E210*	Lethal multiple pterygium syndrome	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 214376539.	NM_000079.4(CHRNA1):c.345-3T>C GRCh37: Chr2:175619145 GRCh38: Chr2:174754417	CHRNA1		Lethal multiple pterygium syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 214274140.	NM_000751.3(CHRND):c.369C>G (p.Phe123Leu) GRCh37: Chr2:233393226 GRCh38: Chr2:232528516	CHRND	F108L, F22L, S33C, F123L	not provided, Lethal multiple pterygium syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214253041.	NM_000751.3(CHRND):c.967G>T (p.Val323Phe) GRCh37: Chr2:233396286 GRCh38: Chr2:232531576	CHRND	V222F, V323F, V129F, V308F	Inborn genetic diseases, Lethal multiple pterygium syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 212750342.	NM_000751.3(CHRND):c.423G>C (p.Trp141Cys) GRCh37: Chr2:233393280 GRCh38: Chr2:232528570	CHRND	G51A, W126C, W141C, W40C	Lethal multiple pterygium syndrome	Likely pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 212698243.	NM_000751.3(CHRND):c.620-3C>T GRCh37: Chr2:233394646 GRCh38: Chr2:232529936	CHRND		Lethal multiple pterygium syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 212573944.	NM_000079.4(CHRNA1):c.345-63_403del GRCh37: Chr2:175619084-175619205 GRCh38: Chr2:174754356-174754477	CHRNA1		Lethal multiple pterygium syndrome	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 212362045.	NM_000079.4(CHRNA1):c.310A>G (p.Lys104Glu) GRCh37: Chr2:175622328 GRCh38: Chr2:174757600	CHRNA1	K104E, K129E	Lethal multiple pterygium syndrome	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212050346.	NM_000079.4(CHRNA1):c.887A>G (p.Lys296Arg) GRCh37: Chr2:175614789 GRCh38: Chr2:174750061	CHRNA1	K321R, K296R	Lethal multiple pterygium syndrome	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 211656647.	NM_000751.3(CHRND):c.1010C>A (p.Thr337Lys) GRCh37: Chr2:233396329 GRCh38: Chr2:232531619	CHRND	T236K, T322K, T337K, T143K	not provided, Lethal multiple pterygium syndrome	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211082148.	NM_000751.3(CHRND):c.1305G>A (p.Leu435=) GRCh37: Chr2:233398986 GRCh38: Chr2:232534276	CHRND		Lethal multiple pterygium syndrome	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 210950449.	NM_000751.3(CHRND):c.29T>C (p.Leu10Pro) GRCh37: Chr2:233390954 GRCh38: Chr2:232526244	CHRND	L10P	Lethal multiple pterygium syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210703950.	NM_000751.3(CHRND):c.1048-12A>G GRCh37: Chr2:233398629 GRCh38: Chr2:232533919	CHRND		Lethal multiple pterygium syndrome	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 210000251.	NM_000751.3(CHRND):c.1218G>T (p.Glu406Asp) GRCh37: Chr2:233398811 GRCh38: Chr2:232534101	CHRND	E305D, E212D, E406D, E391D	Lethal multiple pterygium syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 209700952.	NM_000751.3(CHRND):c.316dup (p.Asp106fs) GRCh37: Chr2:233393042-233393043 GRCh38: Chr2:232528332-232528333	CHRND	T16fs, D91fs, D106fs	Lethal multiple pterygium syndrome	Pathogenic (Aug 7, 2022)	criteria provided, single submitter
Select item 209477553.	NM_000079.4(CHRNA1):c.345-7del GRCh37: Chr2:175619149 GRCh38: Chr2:174754421	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 209465454.	NM_000079.4(CHRNA1):c.1343G>A (p.Gly448Asp) GRCh37: Chr2:175612883 GRCh38: Chr2:174748155	CHRNA1	G473D, G448D	not provided, Lethal multiple pterygium syndrome	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 209331855.	NM_000079.4(CHRNA1):c.14C>G (p.Pro5Arg) GRCh37: Chr2:175629109 GRCh38: Chr2:174764381	CHRNA1	P5R	Lethal multiple pterygium syndrome	Uncertain significance (Dec 16, 2021)	criteria provided, single submitter
Select item 209048556.	NM_000751.3(CHRND):c.1442TGG[2] (p.Val483del) GRCh37: Chr2:233399910-233399912 GRCh38: Chr2:232535200-232535202	CHRND	V483del, V289del, V382del, V468del	Lethal multiple pterygium syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 208581857.	NM_000079.4(CHRNA1):c.1151C>T (p.Ser384Phe) GRCh37: Chr2:175613399 GRCh38: Chr2:174748671	CHRNA1	S409F, S384F	Lethal multiple pterygium syndrome	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 208283258.	NM_000751.3(CHRND):c.440T>C (p.Phe147Ser) GRCh37: Chr2:233393297 GRCh38: Chr2:232528587	CHRND	F46S, S57P, F132S, F147S	Lethal multiple pterygium syndrome	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 207757459.	NM_000079.4(CHRNA1):c.1263C>T (p.Tyr421=) GRCh37: Chr2:175612963 GRCh38: Chr2:174748235	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 207586260.	NM_000079.4(CHRNA1):c.235-14G>A GRCh37: Chr2:175622417 GRCh38: Chr2:174757689	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 207579961.	NM_000079.4(CHRNA1):c.18C>T (p.Leu6=) GRCh37: Chr2:175629105 GRCh38: Chr2:174764377	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 207235262.	NM_000751.3(CHRND):c.1253-11C>A GRCh37: Chr2:233398923 GRCh38: Chr2:232534213	CHRND		Lethal multiple pterygium syndrome	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 206830963.	NM_000751.3(CHRND):c.443G>A (p.Arg148His) GRCh37: Chr2:233393300 GRCh38: Chr2:232528590	CHRND	R148H, A58T, R133H, R47H	Lethal multiple pterygium syndrome	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 206815664.	NM_000079.4(CHRNA1):c.516C>T (p.Asp172=) GRCh37: Chr2:175618971 GRCh38: Chr2:174754243	CHRNA1		not provided, Lethal multiple pterygium syndrome	Likely benign (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206763965.	NM_000079.4(CHRNA1):c.463T>C (p.Phe155Leu) GRCh37: Chr2:175619024 GRCh38: Chr2:174754296	CHRNA1	F155L, F180L	Lethal multiple pterygium syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 206527166.	NM_000079.4(CHRNA1):c.561G>C (p.Leu187=) GRCh37: Chr2:175618448 GRCh38: Chr2:174753720	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 206324867.	NM_000079.4(CHRNA1):c.451A>G (p.Ile151Val) GRCh37: Chr2:175619036 GRCh38: Chr2:174754308	CHRNA1	I151V, I176V	Lethal multiple pterygium syndrome	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 206235068.	NM_000751.3(CHRND):c.938T>C (p.Leu313Pro) GRCh37: Chr2:233396257 GRCh38: Chr2:232531547	CHRND	L313P, L212P, L298P, L119P	Lethal multiple pterygium syndrome	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 206224969.	NM_000079.4(CHRNA1):c.1123C>T (p.Pro375Ser) GRCh37: Chr2:175613427 GRCh38: Chr2:174748699	CHRNA1	P375S, P400S	Lethal multiple pterygium syndrome	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 206153570.	NM_000079.4(CHRNA1):c.23T>C (p.Leu8Pro) GRCh37: Chr2:175629100 GRCh38: Chr2:174764372	CHRNA1	L8P	Lethal multiple pterygium syndrome	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 205684771.	NM_000079.4(CHRNA1):c.874C>T (p.Pro292Ser) GRCh37: Chr2:175614802 GRCh38: Chr2:174750074	CHRNA1	P317S, P292S	Lethal multiple pterygium syndrome	Uncertain significance (Jan 22, 2022)	criteria provided, single submitter
Select item 205654172.	NM_000079.4(CHRNA1):c.1242+11T>A GRCh37: Chr2:175613297 GRCh38: Chr2:174748569	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 205491973.	NM_000751.3(CHRND):c.839T>C (p.Val280Ala) GRCh37: Chr2:233396080 GRCh38: Chr2:232531370	CHRND	V179A, V86A, V280A, V265A	Lethal multiple pterygium syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 205351874.	NM_000079.4(CHRNA1):c.1016C>T (p.Thr339Ile) GRCh37: Chr2:175613534 GRCh38: Chr2:174748806	CHRNA1	T339I, T364I	Lethal multiple pterygium syndrome	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 205319175.	NM_000079.4(CHRNA1):c.788T>C (p.Met263Thr) GRCh37: Chr2:175614888 GRCh38: Chr2:174750160	CHRNA1	M288T, M263T	Lethal multiple pterygium syndrome	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 204888176.	NM_000751.3(CHRND):c.1253-11C>G GRCh37: Chr2:233398923 GRCh38: Chr2:232534213	CHRND		Lethal multiple pterygium syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 204887677.	NM_000751.3(CHRND):c.663C>T (p.Asn221=) GRCh37: Chr2:233394692 GRCh38: Chr2:232529982	CHRND		Lethal multiple pterygium syndrome	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 204396478.	NM_000751.3(CHRND):c.148G>A (p.Glu50Lys) GRCh37: Chr2:233391334 GRCh38: Chr2:232526624	CHRND	E50K	Lethal multiple pterygium syndrome	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 204323279.	NM_000079.4(CHRNA1):c.387C>T (p.Leu129=) GRCh37: Chr2:175619100 GRCh38: Chr2:174754372	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 204239480.	NM_000079.4(CHRNA1):c.581G>A (p.Gly194Glu) GRCh37: Chr2:175618428 GRCh38: Chr2:174753700	CHRNA1	G194E, G219E	Lethal multiple pterygium syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 203787181.	NM_000079.4(CHRNA1):c.1128G>T (p.Gly376=) GRCh37: Chr2:175613422 GRCh38: Chr2:174748694	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 203659982.	NM_000079.4(CHRNA1):c.43+20G>T GRCh37: Chr2:175629060 GRCh38: Chr2:174764332	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 203626283.	NM_000079.4(CHRNA1):c.348A>C (p.Ala116=) GRCh37: Chr2:175619139 GRCh38: Chr2:174754411	CHRNA1		Lethal multiple pterygium syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 203091184.	NM_000751.3(CHRND):c.954G>C (p.Val318=) GRCh37: Chr2:233396273 GRCh38: Chr2:232531563	CHRND		Lethal multiple pterygium syndrome	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 202862085.	NM_000751.3(CHRND):c.1047+20C>T GRCh37: Chr2:233396386 GRCh38: Chr2:232531676	CHRND		Lethal multiple pterygium syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 202658586.	NM_000079.4(CHRNA1):c.541-17del GRCh37: Chr2:175618485 GRCh38: Chr2:174753757	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 201839387.	NM_000751.3(CHRND):c.1407G>A (p.Val469=) GRCh37: Chr2:233399875 GRCh38: Chr2:232535165	CHRND		Lethal multiple pterygium syndrome	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 201762488.	NM_000751.3(CHRND):c.510-16C>G GRCh37: Chr2:233393556 GRCh38: Chr2:232528846	CHRND		Lethal multiple pterygium syndrome	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 201491689.	NM_000751.3(CHRND):c.677_766delinsGGGT (p.Ala226fs) GRCh37: Chr2:233394706-233394795 GRCh38: Chr2:232529996-232530085	CHRND	A125fs, A226fs, A211fs	Lethal multiple pterygium syndrome	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 201490490.	NM_000079.4(CHRNA1):c.1002+14C>G GRCh37: Chr2:175614660 GRCh38: Chr2:174749932	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 201480891.	NM_000751.3(CHRND):c.619+15C>T GRCh37: Chr2:233393696 GRCh38: Chr2:232528986	CHRND		Lethal multiple pterygium syndrome	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 201144092.	NM_000079.4(CHRNA1):c.431T>C (p.Phe144Ser) GRCh37: Chr2:175619056 GRCh38: Chr2:174754328	CHRNA1	F169S, F144S	Lethal multiple pterygium syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 201011993.	NM_000751.3(CHRND):c.1375A>G (p.Lys459Glu) GRCh37: Chr2:233399843 GRCh38: Chr2:232535133	CHRND	K459E, K265E, K358E, K444E	Lethal multiple pterygium syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 200307994.	NM_000079.4(CHRNA1):c.510C>G (p.Thr170=) GRCh37: Chr2:175618977 GRCh38: Chr2:174754249	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 199993595.	NM_000079.4(CHRNA1):c.746C>A (p.Thr249Asn) GRCh37: Chr2:175618263 GRCh38: Chr2:174753535	CHRNA1	T274N, T249N	Lethal multiple pterygium syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 199845696.	NM_000751.3(CHRND):c.509+11T>C GRCh37: Chr2:233393377 GRCh38: Chr2:232528667	CHRND		Lethal multiple pterygium syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 199560897.	NM_000751.3(CHRND):c.1056G>T (p.Leu352=) GRCh37: Chr2:233398649 GRCh38: Chr2:232533939	CHRND		Lethal multiple pterygium syndrome	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 199389298.	NM_000079.4(CHRNA1):c.795G>A (p.Leu265=) GRCh37: Chr2:175614881 GRCh38: Chr2:174750153	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 199225799.	NM_000079.4(CHRNA1):c.925A>C (p.Ile309Leu) GRCh37: Chr2:175614751 GRCh38: Chr2:174750023	CHRNA1	I334L, I309L	Lethal multiple pterygium syndrome	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 1985883100.	NM_000079.4(CHRNA1):c.1002+10G>C GRCh37: Chr2:175614664 GRCh38: Chr2:174749936	CHRNA1		Lethal multiple pterygium syndrome	Likely benign (Aug 1, 2022)	criteria provided, single submitter

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