TLN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
Select item 3177903	NM_006289.4(TLN1):c.7613G>A (p.Arg2538Gln)	TLN1 (R2538Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410709	NM_006289.4(TLN1):c.7568C>G (p.Ala2523Gly)	TLN1 (A2523G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326345	NM_006289.4(TLN1):c.7351G>C (p.Glu2451Gln)	TLN1 (E2451Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326346	NM_006289.4(TLN1):c.7259G>A (p.Ser2420Asn)	TLN1 (S2420N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177902	NM_006289.4(TLN1):c.7214A>G (p.Asn2405Ser)	TLN1 (N2405S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659181	NM_006289.4(TLN1):c.7206G>A (p.Ala2402=)	TLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1691453	NM_006289.4(TLN1):c.7188+2T>C	TLN1	Single nucleotide variant (splice donor variant)	Capillary leak syndrome	GLikely pathogenic
Select item 2540036	NM_006289.4(TLN1):c.6733A>C (p.Asn2245His)	TLN1 (N2245H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591799	NM_006289.4(TLN1):c.6722G>A (p.Arg2241Gln)	TLN1 (R2241Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326338	NM_006289.4(TLN1):c.6721C>T (p.Arg2241Trp)	TLN1 (R2241W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523865	NM_006289.4(TLN1):c.6704G>A (p.Arg2235Gln)	TLN1 (R2235Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514045	NM_006289.4(TLN1):c.6698G>A (p.Arg2233Gln)	TLN1 (R2233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619070	NM_006289.4(TLN1):c.6658A>G (p.Lys2220Glu)	TLN1 (K2220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303959	NM_006289.4(TLN1):c.6581A>T (p.Asn2194Ile)	TLN1 (N2194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393937	NM_006289.4(TLN1):c.6461G>A (p.Arg2154Gln)	TLN1 (R2154Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328821	NM_006289.4(TLN1):c.6459A>G (p.Ile2153Met)	TLN1 (I2153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235845	NM_006289.4(TLN1):c.6371A>G (p.Asn2124Ser)	TLN1 (N2124S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3177901	NM_006289.4(TLN1):c.6361A>G (p.Met2121Val)	TLN1 (M2121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177900	NM_006289.4(TLN1):c.6343A>G (p.Lys2115Glu)	TLN1 (K2115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357515	NM_006289.4(TLN1):c.6311A>G (p.Lys2104Arg)	TLN1 (K2104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177899	NM_006289.4(TLN1):c.6284T>C (p.Ile2095Thr)	TLN1 (I2095T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177898	NM_006289.4(TLN1):c.6154G>A (p.Val2052Met)	TLN1 (V2052M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398164	NM_006289.4(TLN1):c.6134C>T (p.Ala2045Val)	TLN1 (A2045V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588579	NM_006289.4(TLN1):c.6101T>G (p.Val2034Gly)	TLN1 (V2034G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283263	NM_006289.4(TLN1):c.5917C>T (p.Arg1973Cys)	TLN1 (R1973C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288535	NM_006289.4(TLN1):c.5837C>T (p.Thr1946Ile)	TLN1 (T1946I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177897	NM_006289.4(TLN1):c.5819G>A (p.Ser1940Asn)	TLN1 (S1940N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405693	NM_006289.4(TLN1):c.5756G>A (p.Arg1919Gln)	TLN1 (R1919Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177896	NM_006289.4(TLN1):c.5726A>C (p.Asn1909Thr)	TLN1 (N1909T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467811	NM_006289.4(TLN1):c.5683C>T (p.Arg1895Cys)	TLN1 (R1895C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288938	NM_006289.4(TLN1):c.5601C>T (p.Thr1867=)	TLN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2388913	NM_006289.4(TLN1):c.5600C>T (p.Thr1867Ile)	TLN1 (T1867I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326342	NM_006289.4(TLN1):c.5555A>G (p.Asp1852Gly)	TLN1 (D1852G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311032	NM_006289.4(TLN1):c.5467G>A (p.Val1823Ile)	TLN1 (V1823I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718564	NM_006289.4(TLN1):c.5463T>C (p.Ala1821=)	TLN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2252764	NM_006289.4(TLN1):c.5413G>A (p.Glu1805Lys)	TLN1 (E1805K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226739	NM_006289.4(TLN1):c.5383G>T (p.Ala1795Ser)	TLN1 (A1795S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230947	NM_006289.4(TLN1):c.5270A>G (p.Gln1757Arg)	TLN1 (Q1757R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790067	NM_006289.4(TLN1):c.5220G>A (p.Pro1740=)	TLN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3053772	NM_006289.4(TLN1):c.5146C>G (p.Leu1716Val)	TLN1 (L1716V)	Single nucleotide variant (missense variant)	TLN1-related disorder	GLikely benign
Select item 3177895	NM_006289.4(TLN1):c.5107C>T (p.Leu1703Phe)	TLN1 (L1703F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177894	NM_006289.4(TLN1):c.5044G>T (p.Ala1682Ser)	TLN1 (A1682S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390029	NM_006289.4(TLN1):c.4988C>T (p.Thr1663Met)	TLN1 (T1663M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611127	NM_006289.4(TLN1):c.4927T>G (p.Ser1643Ala)	TLN1 (S1643A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326348	NM_006289.4(TLN1):c.4874G>A (p.Arg1625Gln)	TLN1 (R1625Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548736	NM_006289.4(TLN1):c.4873C>T (p.Arg1625Trp)	TLN1 (R1625W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496134	NM_006289.4(TLN1):c.4856C>T (p.Ala1619Val)	TLN1 (A1619V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326341	NM_006289.4(TLN1):c.4661A>G (p.Asn1554Ser)	TLN1 (N1554S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714623	NM_006289.4(TLN1):c.4635G>A (p.Ala1545=)	TLN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3177893	NM_006289.4(TLN1):c.4544G>A (p.Arg1515His)	TLN1 (R1515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204459	NM_006289.4(TLN1):c.4450C>T (p.Pro1484Ser)	TLN1 (P1484S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177892	NM_006289.4(TLN1):c.4401T>A (p.Phe1467Leu)	TLN1 (F1467L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313739	NM_006289.4(TLN1):c.4291A>G (p.Lys1431Glu)	TLN1 (K1431E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241369	NM_006289.4(TLN1):c.4075G>A (p.Gly1359Ser)	LOC126860621, TLN1 (G1359S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368098	NM_006289.4(TLN1):c.4054A>G (p.Met1352Val)	LOC126860621, TLN1 (M1352V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325000	NM_006289.4(TLN1):c.3991C>T (p.Leu1331Phe)	LOC126860621, TLN1 (L1331F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265680	NM_006289.4(TLN1):c.3868G>A (p.Gly1290Ser)	LOC126860621, TLN1 (G1290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050703	NM_006289.4(TLN1):c.3682-7C>T	LOC126860621, TLN1	Single nucleotide variant (intron variant)	TLN1-related disorder	GLikely benign
Select item 3326340	NM_006289.4(TLN1):c.3553C>T (p.Leu1185Phe)	TLN1 (L1185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290598	NM_006289.4(TLN1):c.3515C>A (p.Ala1172Glu)	TLN1 (A1172E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326343	NM_006289.4(TLN1):c.3401C>A (p.Ala1134Asp)	TLN1 (A1134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528196	NM_006289.4(TLN1):c.3374C>T (p.Ala1125Val)	TLN1 (A1125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177891	NM_006289.4(TLN1):c.3307G>A (p.Ala1103Thr)	TLN1 (A1103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177890	NM_006289.4(TLN1):c.3154T>C (p.Ser1052Pro)	TLN1 (S1052P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753178	NM_006289.4(TLN1):c.3114C>G (p.Ala1038=)	TLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792126	NM_006289.4(TLN1):c.3087C>T (p.Thr1029=)	TLN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659182	NM_006289.4(TLN1):c.3084C>T (p.Gly1028=)	TLN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385276	NM_006289.4(TLN1):c.2666G>A (p.Arg889Gln)	TLN1 (R889Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501736	NM_006289.4(TLN1):c.2513A>G (p.Asn838Ser)	TLN1 (N838S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709446	NM_006289.4(TLN1):c.2459-5C>T	TLN1	Single nucleotide variant (intron variant)	not provided	GBenign

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