ClinVar for MedGen (Select 442566) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 125

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064433	NM_001042545.2(LTBP4):c.999dup (p.Val334fs)	LTBP4 (V334fs +2 more)	Duplication (frameshift variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 2582334	NM_001042545.2(LTBP4):c.1611G>C (p.Glu537Asp)	LTBP4 (E537D +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 2498211	NM_001042545.2(LTBP4):c.608T>A (p.Leu203Ter)	LTBP4 (L203* +2 more)	Single nucleotide variant (nonsense)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GLikely pathogenic
Select item 2441765	NM_001042545.2(LTBP4):c.5C>T (p.Ala2Val)	LOC130064472, LTBP4 (A2V)	Single nucleotide variant (missense variant +1 more)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 2433539	NM_001042545.2(LTBP4):c.1183G>T (p.Gly395Cys)	LTBP4 (G395C +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 2433538	NM_001042545.2(LTBP4):c.637T>C (p.Tyr213His)	LTBP4 (Y213H +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 2431458	NM_001042545.2(LTBP4):c.3298C>T (p.Arg1100Ter)	LTBP4 (R1100* +2 more)	Single nucleotide variant (nonsense)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GLikely pathogenic
Select item 1938102	NM_003573.2(LTBP4):c.239A>G (p.Glu80Gly)	LTBP4 (E80G +1 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GUncertain significance
Select item 1810295	NM_001042545.2(LTBP4):c.289G>A (p.Val97Met)	LTBP4 (V127M +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Gnot provided
Select item 1805044	NM_003573.2(LTBP4):c.76-2A>G	LTBP4	Single nucleotide variant (splice acceptor variant +1 more)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 1803706	NM_001042545.2(LTBP4):c.688G>T (p.Glu230Ter)	LOC130064475, LTBP4 (E230* +2 more)	Single nucleotide variant (nonsense)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GPathogenic
Select item 1802238	NM_001042545.2(LTBP4):c.2399G>A (p.Arg800Gln)	LTBP4 (R800Q +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 1586961	NM_001042545.2(LTBP4):c.2557+10C>T	LTBP4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1343390	NM_001042544.1:c.3885_3893del	LTBP4	Deletion	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GLikely pathogenic
Select item 1339881	NM_003573.2(LTBP4):c.230+2T>G	LTBP4	Single nucleotide variant (splice donor variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	Gnot provided
Select item 1333666	NM_001042545.2(LTBP4):c.2029C>T (p.Arg677Ter)	LTBP4 (R677* +2 more)	Single nucleotide variant (nonsense)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GConflicting classifications of pathogenicity
Select item 1333362	NM_001042545.2(LTBP4):c.770G>A (p.Cys257Tyr)	LOC130064475, LTBP4 (C257Y +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 1324689	NM_001042545.2(LTBP4):c.565del (p.Glu189fs)	LTBP4 (E189fs +2 more)	Deletion (frameshift variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GLikely pathogenic
Select item 1323255	NM_003573.2(LTBP4):c.76-1G>A	LTBP4	Single nucleotide variant (splice acceptor variant +1 more)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GPathogenic
Select item 1312815	NM_001042545.2(LTBP4):c.827C>T (p.Pro276Leu)	LOC121627876, LTBP4 (P276L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302535	NM_003573.2(LTBP4):c.172C>T (p.Pro58Ser)	LTBP4 (P58S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211776	NM_001042545.2(LTBP4):c.3368C>T (p.Pro1123Leu)	LTBP4 (P1123L +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GUncertain significance
Select item 1031008	NM_001042545.2(LTBP4):c.1307-2A>G	LTBP4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1028629	NM_001042545.2(LTBP4):c.3446G>C (p.Ser1149Thr)	LTBP4 (S1149T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 978461	NM_001042545.2(LTBP4):c.1360del (p.Arg454fs)	LTBP4 (R454fs +2 more)	Deletion (frameshift variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GPathogenic
Select item 972962	NM_001042545.2(LTBP4):c.4184G>A (p.Arg1395Gln)	LTBP4 (R1395Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 894771	NM_001042545.2(LTBP4):c.1041C>G (p.Arg347=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894770	NM_001042545.2(LTBP4):c.1020G>A (p.Gly340=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GConflicting classifications of pathogenicity
Select item 894769	NM_001042545.2(LTBP4):c.832C>G (p.Pro278Ala)	LOC121627876, LTBP4 (P308A +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 894339	NM_001042545.2(LTBP4):c.*259C>G	LTBP4	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 894338	NM_001042545.2(LTBP4):c.*125C>T	LTBP4	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 894337	NM_001042545.2(LTBP4):c.*97G>T	LTBP4	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 894336	NM_001042545.2(LTBP4):c.*59C>T	LTBP4	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 894278	NM_001042545.2(LTBP4):c.2431+11T>C	LTBP4	Single nucleotide variant (intron variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GConflicting classifications of pathogenicity
Select item 894277	NM_001042545.2(LTBP4):c.2180-3C>A	LTBP4	Single nucleotide variant (intron variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 893945	NM_001042545.2(LTBP4):c.*42G>A	LTBP4	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 893944	NM_001042545.2(LTBP4):c.*25C>T	LTBP4	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 893883	NM_001042545.2(LTBP4):c.2160T>C (p.Thr720=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GConflicting classifications of pathogenicity
Select item 893855	NM_001042545.2(LTBP4):c.634G>A (p.Gly212Ser)	LTBP4 (G212S +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 893854	NM_001042545.2(LTBP4):c.564G>A (p.Ala188=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 893853	NM_001042545.2(LTBP4):c.534G>A (p.Glu178=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 893852	NM_001042545.2(LTBP4):c.371C>G (p.Ala124Gly)	LTBP4 (A191G +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GUncertain significance
Select item 893851	NM_001042545.2(LTBP4):c.302G>A (p.Arg101His)	LTBP4 (R131H +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 893600	NM_001042545.2(LTBP4):c.1549C>A (p.Arg517=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 893562	NM_001042545.2(LTBP4):c.289G>C (p.Val97Leu)	LTBP4 (V127L +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 893561	NM_003573.2(LTBP4):c.334G>T (p.Ala112Ser)	LTBP4 (A149S +1 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 893560	NM_003573.2(LTBP4):c.273G>C (p.Arg91=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 893559	NM_003573.2(LTBP4):c.231-14C>G	LTBP4	Single nucleotide variant (intron variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 892794	NM_001042545.2(LTBP4):c.1452C>G (p.Arg484=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 892793	NM_001042545.2(LTBP4):c.1217G>A (p.Arg406His)	LTBP4 (R406H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 892792	NM_001042545.2(LTBP4):c.1161T>C (p.Gly387=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 808586	NM_001042545.2(LTBP4):c.4604G>A (p.Cys1535Tyr)	LTBP4 (C1565Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 808585	NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln)	LTBP4 (E726Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 800936	NM_001042545.2(LTBP4):c.3850dup (p.Cys1284fs)	LTBP4 (C1284fs +2 more)	Duplication (frameshift variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GLikely pathogenic
Select item 721699	NM_001042545.2(LTBP4):c.1953G>A (p.Pro651=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 711729	NM_001042545.2(LTBP4):c.2235G>A (p.Ser745=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GConflicting classifications of pathogenicity
Select item 632581	NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter)	LTBP4 (Q610* +2 more)	Single nucleotide variant (nonsense)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GPathogenic
Select item 513771	NM_001042545.2(LTBP4):c.864C>T (p.Cys288=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more	GConflicting classifications of pathogenicity
Select item 513106	NM_001042545.2(LTBP4):c.2451G>A (p.Glu817=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 506381	NM_001042545.2(LTBP4):c.2812+6C>T	LTBP4	Single nucleotide variant (intron variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more	GBenign
Select item 506380	NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=)	LTBP4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 506379	NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 504729	NM_001042545.2(LTBP4):c.891C>T (p.Gly297=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	LTBP4-related condition +3 more	GBenign/Likely benign
Select item 451742	NM_001042545.2(LTBP4):c.3478G>A (p.Glu1160Lys)	LTBP4 (E1160K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450016	NM_001042545.2(LTBP4):c.284T>C (p.Val95Ala)	LTBP4 (V125A +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 449892	NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys)	LTBP4 (R628C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426142	NM_001042545.2(LTBP4):c.4024G>A (p.Ala1342Thr)	LTBP4 (A1342T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386527	NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn)	LTBP4 (D685N +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 329334	NM_001042545.2(LTBP4):c.185_187del	LTBP4	Deletion (3 prime UTR variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 329333	NM_001042545.2(LTBP4):c.*126G>T	LTBP4	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 329332	NM_001042545.2(LTBP4):c.*121C>G	LTBP4	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 329331	NM_001042545.2(LTBP4):c.*86C>T	LTBP4	Single nucleotide variant (3 prime UTR variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GBenign
Select item 329330	NM_001042545.2(LTBP4):c.*20G>A	LTBP4	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 329329	NM_001042545.2(LTBP4):c.4169G>A (p.Gly1390Glu)	LTBP4 (G1420E +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 329328	NM_001042545.2(LTBP4):c.4033C>G (p.Pro1345Ala)	LTBP4 (P1412A +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 329327	NM_001042545.2(LTBP4):c.4022C>G (p.Pro1341Arg)	LTBP4 (P1341R +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GUncertain significance
Select item 329326	NM_001042545.2(LTBP4):c.4019C>T (p.Pro1340Leu)	LTBP4 (P1340L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 329325	NM_001042545.2(LTBP4):c.3329G>A (p.Gly1110Glu)	LTBP4 (G1140E +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 329323	NM_001042545.2(LTBP4):c.2934C>T (p.Gly978=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 329322	NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg)	LTBP4 (P970R +2 more)	Single nucleotide variant (missense variant)	LTBP4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 329321	NM_001042545.2(LTBP4):c.2835T>C (p.Tyr945=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 329320	NM_001042545.2(LTBP4):c.2739C>T (p.Asn913=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 329319	NM_001042545.2(LTBP4):c.2681-10C>G	LTBP4	Single nucleotide variant (intron variant)	LTBP4-related condition +3 more	GConflicting classifications of pathogenicity
Select item 329318	NM_001042545.2(LTBP4):c.2436G>A (p.Val812=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GConflicting classifications of pathogenicity
Select item 329317	NM_001042545.2(LTBP4):c.2419G>C (p.Gly807Arg)	LTBP4 (G807R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 329316	NM_001042545.2(LTBP4):c.2238C>T (p.Pro746=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 329315	NM_001042545.2(LTBP4):c.2157C>G (p.Asn719Lys)	LTBP4 (N719K +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GUncertain significance
Select item 329314	NM_001042545.2(LTBP4):c.2098C>T (p.Arg700Trp)	LTBP4 (R700W +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GUncertain significance
Select item 329313	NM_001042545.2(LTBP4):c.1835C>T (p.Pro612Leu)	LTBP4 (P679L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 329312	NM_001042545.2(LTBP4):c.1834C>G (p.Pro612Ala)	LTBP4 (P612A +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +2 more	GBenign
Select item 329311	NM_001042545.2(LTBP4):c.1825A>G (p.Thr609Ala)	LTBP4 (T639A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 329310	NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly)	LTBP4 (R568G +2 more)	Single nucleotide variant (missense variant)	LTBP4-related condition +3 more	GBenign
Select item 329309	NM_001042545.2(LTBP4):c.1636G>A (p.Val546Met)	LTBP4 (V546M +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	GUncertain significance
Select item 329308	NM_001042545.2(LTBP4):c.1491G>T (p.Arg497=)	LTBP4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 329307	NM_001042545.2(LTBP4):c.1441A>G (p.Met481Val)	LTBP4 (M511V +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GBenign
Select item 329306	NM_001042545.2(LTBP4):c.1324C>T (p.Arg442Cys)	LTBP4 (R509C +2 more)	Single nucleotide variant (missense variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GUncertain significance
Select item 329305	NM_001042545.2(LTBP4):c.858G>A (p.Gly286=)	LOC121627876, LTBP4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 329304	NM_001042545.2(LTBP4):c.698C>T (p.Ser233Phe)	LOC130064475, LTBP4 (S300F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 329303	NM_001042545.2(LTBP4):c.639C>T (p.Tyr213=)	LTBP4	Single nucleotide variant (synonymous variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GConflicting classifications of pathogenicity
Select item 329302	NM_001042545.2(LTBP4):c.443-14C>T	LTBP4	Single nucleotide variant (intron variant)	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2