ClinVar for Gene (Select 4052) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	RRM2, RSAD2 +182 more	Copy number gain	See cases	GPathogenic
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 3121426	NM_206943.4(LTBP1):c.722C>T (p.Ser241Leu)	LTBP1 (S241L)	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 3121424	NM_206943.4(LTBP1):c.662T>C (p.Ile221Thr)	LTBP1 (I221T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3121422	NM_206943.4(LTBP1):c.500A>G (p.Asn167Ser)	LTBP1 (N167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121421	NM_206943.4(LTBP1):c.4815T>A (p.Asp1605Glu)	LTBP1 (D1188E +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121420	NM_206943.4(LTBP1):c.4750C>T (p.Arg1584Cys)	LTBP1 (R1168C +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121419	NM_206943.4(LTBP1):c.4303A>G (p.Ile1435Val)	LTBP1 (I1013V +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121418	NM_206943.4(LTBP1):c.4243T>G (p.Ser1415Ala)	LTBP1 (S1005A +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121417	NM_206943.4(LTBP1):c.4019A>G (p.Asp1340Gly)	LTBP1 (D1014G +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121415	NM_206943.4(LTBP1):c.4009G>C (p.Val1337Leu)	LTBP1 (V1337L +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121414	NM_206943.4(LTBP1):c.3350A>C (p.Gln1117Pro)	LTBP1 (Q1117P +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121413	NM_206943.4(LTBP1):c.3296G>C (p.Gly1099Ala)	LTBP1 (G692A +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121412	NM_206943.4(LTBP1):c.3292G>A (p.Glu1098Lys)	LTBP1 (E1098K +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121411	NM_206943.4(LTBP1):c.3062A>T (p.Gln1021Leu)	LTBP1 (Q1021L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121410	NM_206943.4(LTBP1):c.3002A>G (p.Glu1001Gly)	LTBP1 (E1001G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121409	NM_206943.4(LTBP1):c.2939G>A (p.Arg980Gln)	LTBP1 (R612Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121407	NM_206943.4(LTBP1):c.2828C>T (p.Pro943Leu)	LTBP1 (P574L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
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 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 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 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 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 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 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 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 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 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 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 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062607	GRCh37/hg19 2p22.3(chr2:32437298-34106470)x1	BIRC6, FAM98A +6 more	Copy number loss	not specified	GUncertain significance
Select item 3060317	NM_206943.4(LTBP1):c.1427-4G>T	LTBP1	Single nucleotide variant (intron variant)	LTBP1-related condition	GBenign
Select item 3037025	NM_206943.4(LTBP1):c.618C>G (p.Leu206=)	LTBP1	Single nucleotide variant (synonymous variant)	LTBP1-related condition	GLikely benign
Select item 3026216	NM_206943.4(LTBP1):c.4013A>T (p.Asp1338Val)	LTBP1 (D1011V +21 more)	Single nucleotide variant (missense variant)	not provided	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 2672807	NM_206943.4(LTBP1):c.3405C>T (p.Cys1135=)	LTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650820	NM_206943.4(LTBP1):c.3921G>C (p.Gly1307=)	LTBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2616487	NM_206943.4(LTBP1):c.362A>G (p.Asn121Ser)	LTBP1 (N121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2607446	NM_206943.4(LTBP1):c.3036G>T (p.Gln1012His)	LTBP1 (Q657H +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604504	NM_206943.4(LTBP1):c.3773G>C (p.Gly1258Ala)	LTBP1 (G890A +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603219	NM_206943.4(LTBP1):c.4523G>A (p.Arg1508Gln)	LTBP1 (R1086Q +21 more)	Single nucleotide variant (missense variant)	not specified	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 2599018	NM_206943.4(LTBP1):c.3802C>T (p.Arg1268Cys)	LTBP1 (R1215C +13 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598484	NM_206943.4(LTBP1):c.4751G>A (p.Arg1584His)	LTBP1 (R1123H +21 more)	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 2595476	NM_206943.4(LTBP1):c.205G>C (p.Ala69Pro)	LTBP1 (A69P)	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 2593378	NM_206943.4(LTBP1):c.944C>T (p.Pro315Leu)	LTBP1 (P315L)	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 2578852	NM_206943.4(LTBP1):c.4041A>T (p.Lys1347Asn)	LTBP1 (K1020N +21 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578851	NM_206943.4(LTBP1):c.2896G>A (p.Val966Ile)	LTBP1 (V545I +12 more)	Single nucleotide variant (missense variant)	not provided	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 2571072	NM_206943.4(LTBP1):c.4377T>G (p.Asp1459Glu)	LTBP1 (D1037E +21 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571071	NM_206943.4(LTBP1):c.3641C>T (p.Pro1214Leu)	LTBP1 (P1161L +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571070	NM_206943.4(LTBP1):c.3067G>A (p.Val1023Ile)	LTBP1 (V1023I +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2562969	NM_206943.4(LTBP1):c.129G>T (p.Leu43Phe)	LTBP1, LOC129933461 (L43F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557194	NM_206943.4(LTBP1):c.4664G>C (p.Gly1555Ala)	LTBP1 (G1044A +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548864	NM_206943.4(LTBP1):c.3913G>A (p.Val1305Met)	LTBP1 (V1252M +16 more)	Single nucleotide variant (missense variant +1 more)	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 2540584	NM_206943.4(LTBP1):c.472C>T (p.His158Tyr)	LTBP1 (H158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533468	NM_206943.4(LTBP1):c.4633A>T (p.Thr1545Ser)	LTBP1 (T1034S +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526003	NM_206943.4(LTBP1):c.3626C>G (p.Pro1209Arg)	LTBP1 (P813R +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517665	NM_206943.4(LTBP1):c.2788C>A (p.Arg930Ser)	LTBP1 (R603S +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510188	NM_206943.4(LTBP1):c.4256G>T (p.Gly1419Val)	LTBP1 (G1023V +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499640	GRCh38/hg38 2p22.3(chr2:32415095-33099301)	BIRC6, BIRC6-AS2 +17 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2498816	NM_206943.4(LTBP1):c.4629G>A (p.Lys1543=)	LTBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498815	NM_206943.4(LTBP1):c.2870-5C>T	LTBP1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2495090	NM_206943.4(LTBP1):c.3214C>G (p.Pro1072Ala)	LTBP1 (P665A +14 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 2491051	NM_206943.4(LTBP1):c.2803G>A (p.Glu935Lys)	LTBP1 (E514K +12 more)	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 2477936	NM_206943.4(LTBP1):c.1019C>T (p.Ala340Val)	LTBP1 (A340V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477588	NM_206943.4(LTBP1):c.2902G>C (p.Gly968Arg)	LTBP1 (G547R +12 more)	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 2462037	NM_206943.4(LTBP1):c.3145G>T (p.Ala1049Ser)	LTBP1 (A588S +14 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 2391161	NM_206943.4(LTBP1):c.5014C>T (p.Arg1672Trp)	LTBP1 (R1255W +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2373040	NM_206943.4(LTBP1):c.463C>A (p.Leu155Met)	LTBP1 (L155M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2366068	NM_206943.4(LTBP1):c.4538A>G (p.Asn1513Ser)	LTBP1 (N1096S +21 more)	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 2363075	NM_206943.4(LTBP1):c.5089G>T (p.Val1697Leu)	LTBP1 (V1275L +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362241	NM_206943.4(LTBP1):c.4132G>A (p.Val1378Met)	LTBP1 (V1009M +21 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356290	NM_206943.4(LTBP1):c.4097A>G (p.Asn1366Ser)	LTBP1 (N1039S +21 more)	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 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 2349735	NM_206943.4(LTBP1):c.4049A>G (p.Tyr1350Cys)	LTBP1 (Y1297C +21 more)	Single nucleotide variant (missense variant)	not specified	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 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 2344471	NM_206943.4(LTBP1):c.3139G>A (p.Val1047Ile)	LTBP1 (V1047I +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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