TLL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	LOC123493236, LOC123493237 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	LOC132089056, LOC132089057 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807228, LOC126807229 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993256, LOC129993257 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	NDUFC1, NEIL3 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	AADAT, ABCE1 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	AADAT, ANP32C +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993386, LOC129993387 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	LOC129993362, LOC129993363 +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993497, LOC129993498 +509 more	Copy number loss	See cases	GPathogenic
Select item 154254	GRCh38/hg38 4q32.3(chr4:164837643-167576305)x1	APELA, CPE +49 more	Copy number loss	See cases	GUncertain significance
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	SCRG1, SH3RF1 +485 more	Copy number loss	See cases	GPathogenic
Select item 1240677	NM_012464.5(TLL1):c.-228T>C	TLL1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2365052	NM_012464.5(TLL1):c.14C>A (p.Thr5Lys)	TLL1 (T5K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2655172	NM_012464.5(TLL1):c.45G>T (p.Val15=)	TLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3056763	NM_012464.5(TLL1):c.67G>C (p.Gly23Arg)	TLL1 (G23R)	Single nucleotide variant (missense variant)	TLL1-related condition	GBenign
Select item 2475216	NM_012464.5(TLL1):c.83G>C (p.Cys28Ser)	TLL1 (C28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619855	NM_012464.5(TLL1):c.85G>A (p.Ala29Thr)	TLL1 (A29T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790557	NM_012464.5(TLL1):c.93C>A (p.Leu31=)	TLL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3035134	NM_012464.5(TLL1):c.170-8T>C	TLL1	Single nucleotide variant (intron variant)	TLL1-related condition	GLikely benign
Select item 2341914	NM_012464.5(TLL1):c.251A>T (p.Asn84Ile)	TLL1 (N84I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614648	NM_012464.5(TLL1):c.269G>A (p.Gly90Glu)	TLL1 (G90E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287946	NM_012464.5(TLL1):c.320C>T (p.Ala107Val)	TLL1 (A107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2635852	NM_012464.5(TLL1):c.412G>A (p.Gly138Arg)	TLL1 (G138R)	Single nucleotide variant (missense variant)	TLL1-related condition	GUncertain significance
Select item 2554821	NM_012464.5(TLL1):c.484A>G (p.Ile162Val)	TLL1 (I162V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1239489	NM_012464.5(TLL1):c.514+168G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2310569	NM_012464.5(TLL1):c.524G>C (p.Arg175Thr)	TLL1 (R175T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 373416	NM_012464.5(TLL1):c.544A>G (p.Met182Val)	TLL1 (M182V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 4074	NM_012464.5(TLL1):c.544A>C (p.Met182Leu)	TLL1 (M182L)	Single nucleotide variant (missense variant)	Atrial septal defect 6	GPathogenic
Select item 3053878	NM_012464.5(TLL1):c.573G>A (p.Val191=)	TLL1	Single nucleotide variant (synonymous variant)	TLL1-related condition	GLikely benign
Select item 2385373	NM_012464.5(TLL1):c.608T>C (p.Ile203Thr)	TLL1 (I203T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064798	NM_012464.5(TLL1):c.629G>A (p.Cys210Tyr)	TLL1 (C210Y)	Single nucleotide variant (missense variant)	Atrial septal defect 6	GUncertain significance
Select item 2655173	NM_012464.5(TLL1):c.662A>G (p.Asn221Ser)	TLL1 (N221S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 4075	NM_012464.5(TLL1):c.713T>C (p.Val238Ala)	TLL1 (V238A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606050	NM_012464.5(TLL1):c.796G>C (p.Glu266Gln)	TLL1 (E266Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1285079	NM_012464.5(TLL1):c.809C>G (p.Pro270Arg)	TLL1 (P270R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206165	NM_012464.5(TLL1):c.811+6A>G	TLL1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1226159	NM_012464.5(TLL1):c.812-184C>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 711124	NM_012464.5(TLL1):c.917+9C>T	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257296	NM_012464.5(TLL1):c.917+76A>G	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2368317	NM_012464.5(TLL1):c.922A>G (p.Met308Val)	TLL1 (M308V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366955	NM_012464.5(TLL1):c.950G>A (p.Arg317His)	LOC123493235, TLL1 (R317H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539937	NM_012464.5(TLL1):c.965T>C (p.Ile322Thr)	LOC123493235, TLL1 (I322T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581026	NM_012464.5(TLL1):c.985C>T (p.Arg329Ter)	LOC123493235, TLL1 (R329*)	Single nucleotide variant (nonsense)	Atrial septal defect 6	GUncertain significance
Select item 2287027	NM_012464.5(TLL1):c.991C>T (p.Arg331Cys)	LOC123493235, TLL1 (R331C)	Single nucleotide variant (missense variant)	TLL1-related condition +1 more	GUncertain significance
Select item 3042357	NM_012464.5(TLL1):c.1043-9dup	TLL1	Duplication (intron variant)	TLL1-related condition	GBenign
Select item 809699	NM_012464.5(TLL1):c.1059A>G (p.Leu353=)	TLL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2471672	NM_012464.5(TLL1):c.1073G>A (p.Gly358Asp)	TLL1 (G358D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1280329	NM_012464.5(TLL1):c.1158+192G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3058119	NM_012464.5(TLL1):c.1158+5023T>C	TLL1 (V387A)	Single nucleotide variant (missense variant +1 more)	TLL1-related condition	GLikely benign
Select item 1243550	NM_012464.5(TLL1):c.1159-128G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3037583	NM_012464.5(TLL1):c.1159-10C>T	TLL1	Single nucleotide variant (intron variant)	TLL1-related condition	GBenign
Select item 3039650	NM_012464.5(TLL1):c.1233C>T (p.Asp411=)	TLL1	Single nucleotide variant (synonymous variant)	TLL1-related condition	GLikely benign
Select item 2541415	NM_012464.5(TLL1):c.1343A>C (p.Asn448Thr)	TLL1 (N448T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 690359	NM_012464.5(TLL1):c.1379-2A>G	LOC126807212, TLL1	Single nucleotide variant (splice acceptor variant)	Atrial septal defect 6	GPathogenic
Select item 2437105	NM_012464.5(TLL1):c.1399C>T (p.Arg467Cys)	LOC126807212, TLL1 (R467C)	Single nucleotide variant (missense variant)	Atrial septal defect 6	GUncertain significance
Select item 1678575	NM_012464.5(TLL1):c.1414C>T (p.Gln472Ter)	LOC126807212, TLL1 (Q472*)	Single nucleotide variant (nonsense)	Atrial septal defect 6	GUncertain significance
Select item 3037651	NM_012464.5(TLL1):c.1437T>G (p.Pro479=)	LOC126807212, TLL1	Single nucleotide variant (synonymous variant)	TLL1-related condition	GLikely benign
Select item 2498219	NM_012464.5(TLL1):c.1472A>G (p.Lys491Arg)	LOC126807212, TLL1 (K491R)	Single nucleotide variant (missense variant)	Atrial septal defect 6	GUncertain significance
Select item 1242309	NM_012464.5(TLL1):c.1525-163A>C	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2375889	NM_012464.5(TLL1):c.1597A>C (p.Ile533Leu)	TLL1 (I533L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306050	NM_012464.5(TLL1):c.1628A>C (p.Glu543Ala)	TLL1 (E543A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045388	NM_012464.5(TLL1):c.1633A>G (p.Ile545Val)	TLL1 (I545V)	Single nucleotide variant (missense variant)	TLL1-related condition	GBenign
Select item 2437106	NM_012464.5(TLL1):c.1669G>C (p.Val557Leu)	TLL1 (V557L)	Single nucleotide variant (missense variant)	Atrial septal defect 6	GUncertain significance
Select item 711125	NM_012464.5(TLL1):c.1721-7T>C	TLL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1806097	NM_012464.5(TLL1):c.1729G>A (p.Glu577Lys)	TLL1 (E577K)	Single nucleotide variant (missense variant)	Atrial septal defect 6	GUncertain significance
Select item 2380622	NM_012464.5(TLL1):c.1747C>T (p.Arg583Cys)	TLL1 (R583C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1297481	NM_012464.5(TLL1):c.1782G>A (p.Leu594=)	TLL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634896	NM_012464.5(TLL1):c.1841_1846+3dup	TLL1	Duplication (splice donor variant)	TLL1-related condition	GUncertain significance
Select item 1226390	NM_012464.5(TLL1):c.1846+79del	TLL1	Deletion (intron variant)	not provided	GBenign
Select item 1237986	NM_012464.5(TLL1):c.1847-213A>C	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287053	NM_012464.5(TLL1):c.1847-136G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2406346	NM_012464.5(TLL1):c.1856G>A (p.Gly619Asp)	TLL1 (G619D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4076	NM_012464.5(TLL1):c.1885A>G (p.Ile629Val)	TLL1 (I629V)	Single nucleotide variant (missense variant)	Atrial septal defect 6	GPathogenic
Select item 2523352	NM_012464.5(TLL1):c.1955C>G (p.Thr652Ser)	TLL1 (T652S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1177812	NM_012464.5(TLL1):c.2007+303A>G	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280599	NM_012464.5(TLL1):c.2008-142A>G	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2599540	NM_012464.5(TLL1):c.2031G>T (p.Glu677Asp)	TLL1 (E677D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2437107	NM_012464.5(TLL1):c.2044C>A (p.Leu682Ile)	TLL1 (L682I)	Single nucleotide variant (missense variant)	Atrial septal defect 6	GUncertain significance
Select item 710956	NM_012464.5(TLL1):c.2073A>G (p.Lys691=)	TLL1	Single nucleotide variant (synonymous variant)	TLL1-related condition +1 more	GBenign
Select item 2370029	NM_012464.5(TLL1):c.2081G>A (p.Gly694Asp)	TLL1 (G694D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056559	NM_012464.5(TLL1):c.2083G>A (p.Ala695Thr)	TLL1 (A695T)	Single nucleotide variant (missense variant)	TLL1-related condition	GLikely benign
Select item 2324059	NM_012464.5(TLL1):c.2089G>A (p.Val697Met)	TLL1 (V697M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220680	NM_012464.5(TLL1):c.2138A>G (p.Lys713Arg)	TLL1 (K713R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784489	NM_012464.5(TLL1):c.2188+7G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276775	NM_012464.5(TLL1):c.2188+110A>G	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2483403	NM_012464.5(TLL1):c.2206A>G (p.Lys736Glu)	TLL1 (K736E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372377	NM_012464.5(TLL1):c.2236G>T (p.Val746Phe)	TLL1 (V746F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710957	NM_012464.5(TLL1):c.2244G>A (p.Thr748=)	TLL1	Single nucleotide variant (synonymous variant)	TLL1-related condition +1 more	GBenign
Select item 2245928	NM_012464.5(TLL1):c.2267G>C (p.Cys756Ser)	TLL1 (C756S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560649	NM_012464.5(TLL1):c.2270G>A (p.Arg757His)	TLL1 (R757H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1223935	NM_012464.5(TLL1):c.2314+192A>G	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252294	NM_012464.5(TLL1):c.2314+259G>A	TLL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2611973	NM_012464.5(TLL1):c.2330A>G (p.Lys777Arg)	TLL1 (K777R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623359	NM_012464.5(TLL1):c.2394A>C (p.Lys798Asn)	TLL1 (K798N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258949	NM_012464.5(TLL1):c.2416G>A (p.Ala806Thr)	TLL1 (A806T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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