ClinVar for MedGen (Select 442566) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24982111.	NM_001042545.2(LTBP4):c.608T>A (p.Leu203Ter) GRCh37: Chr19:41111476 GRCh38: Chr19:40605570	LTBP4	L203, L233, L270*	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Likely pathogenic	criteria provided, single submitter
Select item 24417652.	NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val) GRCh37: Chr19:41107298 GRCh38: Chr19:40601392	LTBP4	A2V	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 24335393.	NM_001042545.2(LTBP4):c.1183G>T (p.Gly395Cys) GRCh37: Chr19:41114152 GRCh38: Chr19:40608246	LTBP4	G395C, G425C, G462C	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Oct 30, 2020)	criteria provided, single submitter
Select item 24335384.	NM_001042545.2(LTBP4):c.637T>C (p.Tyr213His) GRCh37: Chr19:41111505 GRCh38: Chr19:40605599	LTBP4	Y213H, Y243H, Y280H	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Sep 6, 2019)	criteria provided, single submitter
Select item 24314585.	NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter) GRCh37: Chr19:41128386 GRCh38: Chr19:40622481	LTBP4	R1100, R1130, R1167*	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Likely pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 19381026.	NM_003573.2(LTBP4):c.239A>G (p.Glu80Gly) GRCh37: Chr19:41105982 GRCh38: Chr19:40600076	LTBP4	E80G, E117G	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18102957.	NM_001042545.2(LTBP4):c.289G>A (p.Val97Met) GRCh37: Chr19:41110979 GRCh38: Chr19:40605073	LTBP4	V127M, V164M, V97M	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	not provided	no assertion provided
Select item 18050448.	NM_003573.2(LTBP4):c.76-2A>G GRCh37: Chr19:41105306 GRCh38: Chr19:40599400	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 18037069.	NM_001042545.2(LTBP4):c.688G>T (p.Glu230Ter) GRCh37: Chr19:41111556 GRCh38: Chr19:40605650	LTBP4	E230, E260, E297*	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 180223810.	NM_001042545.2(LTBP4):c.2399G>A (p.Arg800Gln) GRCh37: Chr19:41119070 GRCh38: Chr19:40613164	LTBP4	R800Q, R830Q, R867Q	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 158696111.	NM_001042545.2(LTBP4):c.2557+10C>T GRCh37: Chr19:41119445 GRCh38: Chr19:40613539	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134339012.	NM_001042544.1:c.3885_3893del	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Likely pathogenic (Mar 10, 2022)	no assertion criteria provided
Select item 133988113.	NM_003573.2(LTBP4):c.230+2T>G GRCh37: Chr19:41105464 GRCh38: Chr19:40599558	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	not provided	no assertion provided
Select item 133366614.	NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter) GRCh37: Chr19:41117276 GRCh38: Chr19:40611370	LTBP4	R677, R707, R744*	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133336215.	NM_001042545.2(LTBP4):c.770G>A (p.Cys257Tyr) GRCh37: Chr19:41111714 GRCh38: Chr19:40605808	LTBP4	C257Y, C287Y, C324Y	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 132468916.	NM_001042545.2(LTBP4):c.565del (p.Glu189fs) GRCh37: Chr19:41111432 GRCh38: Chr19:40605526	LTBP4	E189fs, E219fs, E256fs	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Likely pathogenic (Mar 16, 2020)	criteria provided, single submitter
Select item 132325517.	NM_003573.2(LTBP4):c.76-1G>A GRCh37: Chr19:41105307 GRCh38: Chr19:40599401	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Pathogenic (Nov 20, 2019)	criteria provided, single submitter
Select item 131281518.	NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu) GRCh37: Chr19:41112172 GRCh38: Chr19:40606266	LOC121627876, LTBP4	P276L, P306L, P343L	not provided	Uncertain significance (Jun 19, 2020)	criteria provided, single submitter
Select item 130253519.	NM_003573.2(LTBP4):c.172C>T (p.Pro58Ser) GRCh37: Chr19:41105404 GRCh38: Chr19:40599498	LTBP4	P58S, P95S	not provided	Uncertain significance (Apr 16, 2021)	criteria provided, single submitter
Select item 121177620.	NM_001042545.2(LTBP4):c.3368C>T (p.Pro1123Leu) GRCh37: Chr19:41128456 GRCh38: Chr19:40622551	LTBP4	P1123L, P1153L, P1190L	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103100821.	NM_001042545.2(LTBP4):c.1307-2A>G GRCh37: Chr19:41114388 GRCh38: Chr19:40608482	LTBP4		not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Likely pathogenic (Sep 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 102862922.	NM_001042545.2(LTBP4):c.3446G>C (p.Ser1149Thr) GRCh37: Chr19:41128534 GRCh38: Chr19:40622629	LTBP4	S1149T, S1216T, S1179T	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97846123.	NM_001042545.2(LTBP4):c.1360del (p.Arg454fs) GRCh37: Chr19:41114440 GRCh38: Chr19:40608534	LTBP4	R454fs, R484fs, R521fs	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Pathogenic	criteria provided, single submitter
Select item 97296224.	NM_001042545.2(LTBP4):c.4184G>A (p.Arg1395Gln) GRCh37: Chr19:41133078 GRCh38: Chr19:40627173	LTBP4	R1395Q, R1462Q, R1425Q	not provided	Uncertain significance (Dec 3, 2019)	criteria provided, single submitter
Select item 89477125.	NM_001042545.2(LTBP4):c.1041C>G (p.Arg347=) GRCh37: Chr19:41113320 GRCh38: Chr19:40607414	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 89477026.	NM_001042545.2(LTBP4):c.1020G>A (p.Gly340=) GRCh37: Chr19:41113299 GRCh38: Chr19:40607393	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89476927.	NM_001042545.2(LTBP4):c.832C>G (p.Pro278Ala) GRCh37: Chr19:41112177 GRCh38: Chr19:40606271	LOC121627876, LTBP4	P308A, P278A, P345A	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 22, 2018)	criteria provided, single submitter
Select item 89433928.	NM_001042545.2(LTBP4):c.*259C>G GRCh37: Chr19:41135714 GRCh38: Chr19:40629809	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89433829.	NM_001042545.2(LTBP4):c.*125C>T GRCh37: Chr19:41135580 GRCh38: Chr19:40629675	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89433730.	NM_001042545.2(LTBP4):c.*97G>T GRCh37: Chr19:41135552 GRCh38: Chr19:40629647	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89433631.	NM_001042545.2(LTBP4):c.*59C>T GRCh37: Chr19:41135514 GRCh38: Chr19:40629609	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89427832.	NM_001042545.2(LTBP4):c.2431+11T>C GRCh37: Chr19:41119113 GRCh38: Chr19:40613207	LTBP4		not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Conflicting interpretations of pathogenicity (Jan 26, 2022)	criteria provided, conflicting interpretations
Select item 89427733.	NM_001042545.2(LTBP4):c.2180-3C>A GRCh37: Chr19:41117976 GRCh38: Chr19:40612070	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89394534.	NM_001042545.2(LTBP4):c.*42G>A GRCh37: Chr19:41135497 GRCh38: Chr19:40629592	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89394435.	NM_001042545.2(LTBP4):c.*25C>T GRCh37: Chr19:41135480 GRCh38: Chr19:40629575	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89388336.	NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=) GRCh37: Chr19:41117871 GRCh38: Chr19:40611965	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89385537.	NM_001042545.2(LTBP4):c.634G>A (p.Gly212Ser) GRCh37: Chr19:41111502 GRCh38: Chr19:40605596	LTBP4	G212S, G279S, G242S	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89385438.	NM_001042545.2(LTBP4):c.564G>A (p.Ala188=) GRCh37: Chr19:41111432 GRCh38: Chr19:40605526	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89385339.	NM_001042545.2(LTBP4):c.534G>A (p.Glu178=) GRCh37: Chr19:41111402 GRCh38: Chr19:40605496	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89385240.	NM_001042545.2(LTBP4):c.371C>G (p.Ala124Gly) GRCh37: Chr19:41111061 GRCh38: Chr19:40605155	LTBP4	A191G, A154G, A124G	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 89385141.	NM_001042545.2(LTBP4):c.302G>A (p.Arg101His) GRCh37: Chr19:41110992 GRCh38: Chr19:40605086	LTBP4	R131H, R168H, R101H	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89360042.	NM_001042545.2(LTBP4):c.1549C>A (p.Arg517=) GRCh37: Chr19:41115558 GRCh38: Chr19:40609652	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89356243.	NM_001042545.2(LTBP4):c.289G>C (p.Val97Leu) GRCh37: Chr19:41110979 GRCh38: Chr19:40605073	LTBP4	V127L, V164L, V97L	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89356144.	NM_003573.2(LTBP4):c.334G>T (p.Ala112Ser) GRCh37: Chr19:41106077 GRCh38: Chr19:40600171	LTBP4	A149S, A112S	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89356045.	NM_003573.2(LTBP4):c.273G>C (p.Arg91=) GRCh37: Chr19:41106016 GRCh38: Chr19:40600110	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89355946.	NM_003573.2(LTBP4):c.231-14C>G GRCh37: Chr19:41105960 GRCh38: Chr19:40600054	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89279447.	NM_001042545.2(LTBP4):c.1452C>G (p.Arg484=) GRCh37: Chr19:41115461 GRCh38: Chr19:40609555	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 89279348.	NM_001042545.2(LTBP4):c.1217G>A (p.Arg406His) GRCh37: Chr19:41114186 GRCh38: Chr19:40608280	LTBP4	R406H, R436H, R473H	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jul 30, 2020)	criteria provided, multiple submitters, no conflicts
Select item 89279249.	NM_001042545.2(LTBP4):c.1161T>C (p.Gly387=) GRCh37: Chr19:41114130 GRCh38: Chr19:40608224	LTBP4		not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Conflicting interpretations of pathogenicity (Jul 23, 2022)	criteria provided, conflicting interpretations
Select item 80858650.	NM_001042545.2(LTBP4):c.4604G>A (p.Cys1535Tyr) GRCh37: Chr19:41135385 GRCh38: Chr19:40629480	LTBP4	C1565Y, C1535Y, C1602Y	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jul 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80858551.	NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln) GRCh37: Chr19:41117887 GRCh38: Chr19:40611981	LTBP4	E726Q, E756Q, E793Q	not specified, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided	Uncertain significance (May 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 80093652.	NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs) GRCh37: Chr19:41131778-41131779 GRCh38: Chr19:40625873-40625874	LTBP4	C1284fs, C1351fs, C1314fs	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Likely pathogenic (Sep 26, 2019)	no assertion criteria provided
Select item 72169953.	NM_001042545.2(LTBP4):c.1953G>A (p.Pro651=) GRCh37: Chr19:41117200 GRCh38: Chr19:40611294	LTBP4		not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Benign (Mar 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71172954.	NM_001042545.2(LTBP4):c.2235G>A (p.Ser745=) GRCh37: Chr19:41118034 GRCh38: Chr19:40612128	LTBP4		not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Conflicting interpretations of pathogenicity (Feb 3, 2022)	criteria provided, conflicting interpretations
Select item 63258155.	NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) GRCh37: Chr19:41117075 GRCh38: Chr19:40611169	LTBP4	Q610, Q640, Q677*	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Pathogenic (Apr 12, 2019)	criteria provided, single submitter
Select item 51377156.	NM_001042545.2(LTBP4):c.864C>T (p.Cys288=) GRCh37: Chr19:41112209 GRCh38: Chr19:40606303	LOC121627876, LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not specified, not provided	Conflicting interpretations of pathogenicity (Aug 21, 2022)	criteria provided, conflicting interpretations
Select item 51310657.	NM_001042545.2(LTBP4):c.2451G>A (p.Glu817=) GRCh37: Chr19:41119329 GRCh38: Chr19:40613423	LTBP4		not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Benign (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50638158.	NM_001042545.2(LTBP4):c.2812+6C>T GRCh37: Chr19:41120358 GRCh38: Chr19:40614452	LTBP4		not specified, not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50638059.	NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=) GRCh37: Chr19:41117215 GRCh38: Chr19:40611309	LTBP4		not specified, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50637960.	NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=) GRCh37: Chr19:41113404 GRCh38: Chr19:40607498	LTBP4		not specified, not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50472961.	NM_001042545.2(LTBP4):c.891C>T (p.Gly297=) GRCh37: Chr19:41112332 GRCh38: Chr19:40606426	LOC121627876, LTBP4		not specified, not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Benign/Likely benign (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45174262.	NM_001042545.2(LTBP4):c.3478G>A (p.Glu1160Lys) GRCh37: Chr19:41128566 GRCh38: Chr19:40622661	LTBP4	E1160K, E1190K, E1227K	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45001663.	NM_001042545.2(LTBP4):c.284T>C (p.Val95Ala) GRCh37: Chr19:41110974 GRCh38: Chr19:40605068	LTBP4	V125A, V162A, V95A	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided, not specified	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44989264.	NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys) GRCh37: Chr19:41117129 GRCh38: Chr19:40611223	LTBP4	R628C, R658C, R695C	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Dec 15, 2022)	criteria provided, conflicting interpretations
Select item 42614265.	NM_001042545.2(LTBP4):c.4024G>A (p.Ala1342Thr) GRCh37: Chr19:41132918 GRCh38: Chr19:40627013	LTBP4	A1342T, A1372T, A1409T	not provided	Uncertain significance (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 38652766.	NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) GRCh37: Chr19:41117300 GRCh38: Chr19:40611394	LTBP4	D685N, D715N, D752N	not specified, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided	Benign/Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32933467.	NM_001042545.2(LTBP4):c.185_187del GRCh37: Chr19:41135638-41135640 GRCh38: Chr19:40629733-40629735	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32933368.	NM_001042545.2(LTBP4):c.*126G>T GRCh37: Chr19:41135581 GRCh38: Chr19:40629676	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32933269.	NM_001042545.2(LTBP4):c.*121C>G GRCh37: Chr19:41135576 GRCh38: Chr19:40629671	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32933170.	NM_001042545.2(LTBP4):c.*86C>T GRCh37: Chr19:41135541 GRCh38: Chr19:40629636	LTBP4		not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Benign (Jul 8, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32933071.	NM_001042545.2(LTBP4):c.*20G>A GRCh37: Chr19:41135475 GRCh38: Chr19:40629570	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not specified	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32932972.	NM_001042545.2(LTBP4):c.4169G>A (p.Gly1390Glu) GRCh37: Chr19:41133063 GRCh38: Chr19:40627158	LTBP4	G1420E, G1390E, G1457E	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32932873.	NM_001042545.2(LTBP4):c.4033C>G (p.Pro1345Ala) GRCh37: Chr19:41132927 GRCh38: Chr19:40627022	LTBP4	P1412A, P1345A, P1375A	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32932774.	NM_001042545.2(LTBP4):c.4022C>G (p.Pro1341Arg) GRCh37: Chr19:41132916 GRCh38: Chr19:40627011	LTBP4	P1341R, P1371R, P1408R	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Inborn genetic diseases	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32932675.	NM_001042545.2(LTBP4):c.4019C>T (p.Pro1340Leu) GRCh37: Chr19:41132913 GRCh38: Chr19:40627008	LTBP4	P1340L, P1407L, P1370L	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32932576.	NM_001042545.2(LTBP4):c.3329G>A (p.Gly1110Glu) GRCh37: Chr19:41128417 GRCh38: Chr19:40622512	LTBP4	G1140E, G1177E, G1110E	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32932377.	NM_001042545.2(LTBP4):c.2934C>T (p.Gly978=) GRCh37: Chr19:41122916 GRCh38: Chr19:40617010	LTBP4		not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Conflicting interpretations of pathogenicity (Sep 15, 2022)	criteria provided, conflicting interpretations
Select item 32932278.	NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg) GRCh37: Chr19:41122891 GRCh38: Chr19:40616985	LTBP4	P970R, P1000R, P1037R	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 32932179.	NM_001042545.2(LTBP4):c.2835T>C (p.Tyr945=) GRCh37: Chr19:41122817 GRCh38: Chr19:40616911	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32932080.	NM_001042545.2(LTBP4):c.2739C>T (p.Asn913=) GRCh37: Chr19:41120279 GRCh38: Chr19:40614373	LTBP4		not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Conflicting interpretations of pathogenicity (Apr 30, 2020)	criteria provided, conflicting interpretations
Select item 32931981.	NM_001042545.2(LTBP4):c.2681-10C>G GRCh37: Chr19:41120211 GRCh38: Chr19:40614305	LTBP4		not provided, not specified, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 32931882.	NM_001042545.2(LTBP4):c.2436G>A (p.Val812=) GRCh37: Chr19:41119314 GRCh38: Chr19:40613408	LTBP4		not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 32931783.	NM_001042545.2(LTBP4):c.2419G>C (p.Gly807Arg) GRCh37: Chr19:41119090 GRCh38: Chr19:40613184	LTBP4	G807R, G837R, G874R	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Nov 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32931684.	NM_001042545.2(LTBP4):c.2238C>T (p.Pro746=) GRCh37: Chr19:41118037 GRCh38: Chr19:40612131	LTBP4		not provided, not specified, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32931585.	NM_001042545.2(LTBP4):c.2157C>G (p.Asn719Lys) GRCh37: Chr19:41117868 GRCh38: Chr19:40611962	LTBP4	N719K, N786K, N749K	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Inborn genetic diseases	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32931486.	NM_001042545.2(LTBP4):c.2098C>T (p.Arg700Trp) GRCh37: Chr19:41117809 GRCh38: Chr19:40611903	LTBP4	R700W, R767W, R730W	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32931387.	NM_001042545.2(LTBP4):c.1835C>T (p.Pro612Leu) GRCh37: Chr19:41117082 GRCh38: Chr19:40611176	LTBP4	P679L, P642L, P612L	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, Inborn genetic diseases	Uncertain significance (May 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32931288.	NM_001042545.2(LTBP4):c.1834C>G (p.Pro612Ala) GRCh37: Chr19:41117081 GRCh38: Chr19:40611175	LTBP4	P612A, P642A, P679A	not provided, not specified, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32931189.	NM_001042545.2(LTBP4):c.1825A>G (p.Thr609Ala) GRCh37: Chr19:41117072 GRCh38: Chr19:40611166	LTBP4	T639A, T676A, T609A	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32931090.	NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly) GRCh37: Chr19:41116455 GRCh38: Chr19:40610549	LTBP4	R568G, R635G, R598G	not specified, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32930991.	NM_001042545.2(LTBP4):c.1636G>A (p.Val546Met) GRCh37: Chr19:41115729 GRCh38: Chr19:40609823	LTBP4	V546M, V576M, V613M	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32930892.	NM_001042545.2(LTBP4):c.1491G>T (p.Arg497=) GRCh37: Chr19:41115500 GRCh38: Chr19:40609594	LTBP4		not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32930793.	NM_001042545.2(LTBP4):c.1441A>G (p.Met481Val) GRCh37: Chr19:41115450 GRCh38: Chr19:40609544	LTBP4	M511V, M481V, M548V	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32930694.	NM_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys) GRCh37: Chr19:41114407 GRCh38: Chr19:40608501	LTBP4	R509C, R442C, R472C	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided	Uncertain significance (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32930595.	NM_001042545.2(LTBP4):c.858G>A (p.Gly286=) GRCh37: Chr19:41112203 GRCh38: Chr19:40606297	LOC121627876, LTBP4		not specified, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32930496.	NM_001042545.2(LTBP4):c.698C>T (p.Ser233Phe) GRCh37: Chr19:41111642 GRCh38: Chr19:40605736	LTBP4	S300F, S263F, S233F	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided, Inborn genetic diseases	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32930397.	NM_001042545.2(LTBP4):c.639C>T (p.Tyr213=) GRCh37: Chr19:41111507 GRCh38: Chr19:40605601	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32930298.	NM_001042545.2(LTBP4):c.443-14C>T GRCh37: Chr19:41111297 GRCh38: Chr19:40605391	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, not provided	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 32930199.	NM_003573.2(LTBP4):c.310C>G (p.Pro104Ala) GRCh37: Chr19:41106053 GRCh38: Chr19:40600147	LTBP4	P104A, P141A	not provided, Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 329300100.	NM_003573.2(LTBP4):c.213C>A (p.Leu71=) GRCh37: Chr19:41105445 GRCh38: Chr19:40599539	LTBP4		Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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