6714[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 154534	GRCh38/hg38 2p22.3(chr2:32289459-33024069)x3	BIRC6, BIRC6-AS2 +17 more	Copy number gain	See cases	GBenign
Select item 2499640	GRCh38/hg38 2p22.3(chr2:32415095-33099301)	MIR4765, MIR558 +17 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 146388	GRCh38/hg38 2p22.3(chr2:32438092-33069715)x3	BIRC6, BIRC6-AS2 +17 more	Copy number gain	See cases	GLikely benign
Select item 144608	GRCh38/hg38 2p22.3(chr2:32452615-33032312)x3	BIRC6, BIRC6-AS2 +15 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 160839	GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3	BIRC6, BIRC6-AS2 +15 more	Copy number gain	See cases	GBenign
Select item 145857	GRCh38/hg38 2p22.3(chr2:32452646-33069656)x3	BIRC6, BIRC6-AS2 +17 more	Copy number gain	See cases	GBenign/Likely benign
Select item 31967	GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3	BIRC6, BIRC6-AS2 +15 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 3292216	NM_206943.4(LTBP1):c.34C>T (p.Leu12Phe)	LOC129933461, LTBP1 (L12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292214	NM_206943.4(LTBP1):c.40G>A (p.Ala14Thr)	LOC129933461, LTBP1 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121423	NM_206943.4(LTBP1):c.52G>T (p.Ala18Ser)	LOC129933461, LTBP1 (A18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121427	NM_206943.4(LTBP1):c.88T>C (p.Tyr30His)	LOC129933461, LTBP1 (Y30H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253850	NM_206943.4(LTBP1):c.101C>A (p.Pro34Gln)	LOC129933461, LTBP1 (P34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562969	NM_206943.4(LTBP1):c.129G>T (p.Leu43Phe)	LOC129933461, LTBP1 (L43F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223102	NM_206943.4(LTBP1):c.164A>G (p.Asn55Ser)	LOC129933461, LTBP1 (N55S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2457942	NM_206943.4(LTBP1):c.179C>A (p.Ala60Asp)	LTBP1 (A60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292207	NM_206943.4(LTBP1):c.182G>A (p.Arg61Lys)	LTBP1 (R61K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485130	NM_206943.4(LTBP1):c.203C>T (p.Ala68Val)	LTBP1 (A68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595476	NM_206943.4(LTBP1):c.205G>C (p.Ala69Pro)	LTBP1 (A69P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289987	NM_206943.4(LTBP1):c.254G>T (p.Arg85Leu)	LTBP1 (R85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121405	NM_206943.4(LTBP1):c.268C>T (p.Pro90Ser)	LTBP1 (P90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365139	NM_206943.4(LTBP1):c.275G>A (p.Gly92Asp)	LTBP1 (G92D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342584	NM_206943.4(LTBP1):c.340C>T (p.Pro114Ser)	LTBP1 (P114S)	Single nucleotide variant (missense variant)	Congenital heart disease	GUncertain significance
Select item 2578850	NM_206943.4(LTBP1):c.357C>A (p.His119Gln)	LTBP1 (H119Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3292220	NM_206943.4(LTBP1):c.359C>T (p.Pro120Leu)	LTBP1 (P120L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616487	NM_206943.4(LTBP1):c.362A>G (p.Asn121Ser)	LTBP1 (N121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257897	NM_206943.4(LTBP1):c.385G>C (p.Ala129Pro)	LTBP1 (A129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354011	NM_206943.4(LTBP1):c.386C>T (p.Ala129Val)	LTBP1 (A129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582977	NM_206943.4(LTBP1):c.395_397dup (p.Thr132_Lys133insThr)	LOC129933462, LTBP1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2315300	NM_206943.4(LTBP1):c.412G>C (p.Val138Leu)	LOC129933462, LTBP1 (V138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373040	NM_206943.4(LTBP1):c.463C>A (p.Leu155Met)	LTBP1 (L155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540584	NM_206943.4(LTBP1):c.472C>T (p.His158Tyr)	LTBP1 (H158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121422	NM_206943.4(LTBP1):c.500A>G (p.Asn167Ser)	LTBP1 (N167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342088	NM_206943.4(LTBP1):c.542C>G (p.Pro181Arg)	LTBP1 (P181R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2600183	NM_206943.4(LTBP1):c.578C>T (p.Pro193Leu)	LTBP1 (P193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545717	NM_206943.4(LTBP1):c.583T>C (p.Cys195Arg)	LTBP1 (C195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037025	NM_206943.4(LTBP1):c.618C>G (p.Leu206=)	LTBP1	Single nucleotide variant (synonymous variant)	LTBP1-related disorder	GLikely benign
Select item 3121424	NM_206943.4(LTBP1):c.662T>C (p.Ile221Thr)	LTBP1 (I221T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2209898	NM_206943.4(LTBP1):c.676A>G (p.Thr226Ala)	LTBP1 (T226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121425	NM_206943.4(LTBP1):c.680C>T (p.Ser227Leu)	LTBP1 (S227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594346	NM_206943.4(LTBP1):c.712G>A (p.Ala238Thr)	LTBP1 (A238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121426	NM_206943.4(LTBP1):c.722C>T (p.Ser241Leu)	LTBP1 (S241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464363	NM_206943.4(LTBP1):c.752A>G (p.His251Arg)	LTBP1 (H251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711497	NM_206943.4(LTBP1):c.769G>A (p.Ala257Thr)	LTBP1 (A257T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3292218	NM_206943.4(LTBP1):c.808A>T (p.Thr270Ser)	LTBP1 (T270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498814	NM_206943.4(LTBP1):c.824C>T (p.Pro275Leu)	LTBP1 (P275L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2295573	NM_206943.4(LTBP1):c.836T>G (p.Val279Gly)	LTBP1 (V279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739721	NM_206943.4(LTBP1):c.864-4C>T	LTBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2309007	NM_206943.4(LTBP1):c.872C>T (p.Pro291Leu)	LTBP1 (P291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3256955	NM_206943.4(LTBP1):c.921C>T (p.Tyr307=)	LTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593378	NM_206943.4(LTBP1):c.944C>T (p.Pro315Leu)	LTBP1 (P315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597752	NM_206943.4(LTBP1):c.977C>G (p.Thr326Ser)	LTBP1 (T326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477936	NM_206943.4(LTBP1):c.1019C>T (p.Ala340Val)	LTBP1 (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292215	NM_206943.4(LTBP1):c.1051C>T (p.Arg351Cys)	LTBP1 (R351C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292221	NM_206943.4(LTBP1):c.1076G>A (p.Ser359Asn)	LTBP1 (S359N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396101	NM_206943.4(LTBP1):c.1118G>A (p.Ser373Asn)	LTBP1 (S47N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121397	NM_206943.4(LTBP1):c.1187C>T (p.Thr396Met)	LTBP1 (T396M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1184252	NM_206943.4(LTBP1):c.1342C>T (p.Gln448Ter)	LTBP1 (Q448* +1 more)	Single nucleotide variant (nonsense)	Cutis laxa, autosomal recessive, type 2E	GLikely pathogenic
Select item 2613478	NM_206943.4(LTBP1):c.1391T>G (p.Leu464Trp)	LTBP1 (L138W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060317	NM_206943.4(LTBP1):c.1427-4G>T	LTBP1	Single nucleotide variant (intron variant)	LTBP1-related disorder	GBenign
Select item 2385339	NM_206943.4(LTBP1):c.1436C>G (p.Pro479Arg)	LTBP1 (P72R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270621	NM_206943.4(LTBP1):c.1471C>G (p.Pro491Ala)	LTBP1 (P84A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354010	NM_206943.4(LTBP1):c.1492C>T (p.His498Tyr)	LTBP1 (H172Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405614	NM_206943.4(LTBP1):c.1622A>G (p.Gln541Arg)	LTBP1 (Q215R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345358	NM_206943.4(LTBP1):c.1651G>A (p.Ala551Thr)	LTBP1 (A225T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710311	NM_206943.4(LTBP1):c.1691T>C (p.Ile564Thr)	LTBP1 (I564T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2266244	NM_206943.4(LTBP1):c.1763C>T (p.Ser588Phe)	LTBP1 (S588F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245867	NM_206943.4(LTBP1):c.1826T>C (p.Met609Thr)	LTBP1 (M283T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224252	NM_206943.4(LTBP1):c.1853G>A (p.Arg618Gln)	LTBP1 (R292Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292206	NM_206943.4(LTBP1):c.1858A>G (p.Asn620Asp)	LTBP1 (N213D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329268	NM_206943.4(LTBP1):c.1931C>T (p.Thr644Ile)	LTBP1 (T318I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121399	NM_206943.4(LTBP1):c.1967T>A (p.Phe656Tyr)	LTBP1 (F249Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292202	NM_206943.4(LTBP1):c.1979C>T (p.Pro660Leu)	LTBP1 (P334L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121400	NM_206943.4(LTBP1):c.2018C>T (p.Ser673Leu)	LTBP1 (S266L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025260	NM_206943.4(LTBP1):c.2056G>A (p.Gly686Arg)	LTBP1 (G279R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3292205	NM_206943.4(LTBP1):c.2089C>T (p.Leu697Phe)	LTBP1 (L371F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379569	NM_206943.4(LTBP1):c.2089C>G (p.Leu697Val)	LTBP1 (L290V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342089	NM_206943.4(LTBP1):c.2140T>C (p.Cys714Arg)	LTBP1 (C307R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2347418	NM_206943.4(LTBP1):c.2159C>G (p.Pro720Arg)	LTBP1 (P313R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121401	NM_206943.4(LTBP1):c.2222A>G (p.His741Arg)	LTBP1 (H334R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121402	NM_206943.4(LTBP1):c.2246A>G (p.His749Arg)	LTBP1 (H749R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783326	NM_206943.4(LTBP1):c.2248G>A (p.Val750Ile)	LTBP1 (V750I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 745087	NM_206943.4(LTBP1):c.2337G>A (p.Glu779=)	LTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2367478	NM_206943.4(LTBP1):c.2384C>T (p.Ala795Val)	LTBP1 (A441V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067456	NM_206943.4(LTBP1):c.2407C>A (p.Pro803Thr)	LTBP1 (P396T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067214	NM_206943.4(LTBP1):c.2410C>T (p.Pro804Ser)	LTBP1 (P397S +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3121403	NM_206943.4(LTBP1):c.2425C>G (p.Pro809Ala)	LTBP1 (P430A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492440	NM_206943.4(LTBP1):c.2431T>A (p.Leu811Met)	LTBP1 (L432M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067345	NM_206943.4(LTBP1):c.2453T>C (p.Leu818Pro)	LTBP1 (L411P +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310661	NM_206943.4(LTBP1):c.2457G>T (p.Glu819Asp)	LTBP1 (E440D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711325	NM_206943.4(LTBP1):c.2491A>G (p.Thr831Ala)	LTBP1 (T505A +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2650819	NM_206943.4(LTBP1):c.2503C>A (p.His835Asn)	LTBP1 (H428N +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 767792	NM_206943.4(LTBP1):c.2519-4A>G	LTBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3121404	NM_206943.4(LTBP1):c.2563C>T (p.Pro855Ser)	LTBP1 (P448S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292211	NM_206943.4(LTBP1):c.2719A>G (p.Ser907Gly)	LTBP1 (S528G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783327	NM_206943.4(LTBP1):c.2751T>C (p.Asp917=)	LTBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3121406	NM_206943.4(LTBP1):c.2761C>G (p.Gln921Glu)	LTBP1 (Q566E +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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