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	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +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	LOC123493228, LOC123493229 +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	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +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	LOC129993424, LOC129993425 +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)	not specified	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 3177858	NM_012464.5(TLL1):c.62T>C (p.Phe21Ser)	TLL1 (F21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056763	NM_012464.5(TLL1):c.67G>C (p.Gly23Arg)	TLL1 (G23R)	Single nucleotide variant (missense variant)	TLL1-related disorder	GBenign
Select item 2475216	NM_012464.5(TLL1):c.83G>C (p.Cys28Ser)	TLL1 (C28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619855	NM_012464.5(TLL1):c.85G>A (p.Ala29Thr)	TLL1 (A29T)	Single nucleotide variant (missense variant)	not specified	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 3326317	NM_012464.5(TLL1):c.125A>G (p.Glu42Gly)	TLL1 (E42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035134	NM_012464.5(TLL1):c.170-8T>C	TLL1	Single nucleotide variant (intron variant)	TLL1-related disorder	GLikely benign
Select item 3352384	NM_012464.5(TLL1):c.245C>T (p.Thr82Met)	TLL1 (T82M)	Single nucleotide variant (missense variant)	TLL1-related disorder	GLikely benign
Select item 2341914	NM_012464.5(TLL1):c.251A>T (p.Asn84Ile)	TLL1 (N84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614648	NM_012464.5(TLL1):c.269G>A (p.Gly90Glu)	TLL1 (G90E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326319	NM_012464.5(TLL1):c.319G>A (p.Ala107Thr)	TLL1 (A107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287946	NM_012464.5(TLL1):c.320C>T (p.Ala107Val)	TLL1 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635852	NM_012464.5(TLL1):c.412G>A (p.Gly138Arg)	TLL1 (G138R)	Single nucleotide variant (missense variant)	TLL1-related disorder	GUncertain significance
Select item 3177857	NM_012464.5(TLL1):c.437C>T (p.Pro146Leu)	TLL1 (P146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554821	NM_012464.5(TLL1):c.484A>G (p.Ile162Val)	TLL1 (I162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326321	NM_012464.5(TLL1):c.488C>G (p.Pro163Arg)	TLL1 (P163R)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 373416	NM_012464.5(TLL1):c.544A>G (p.Met182Val)	TLL1 (M182V)	Single nucleotide variant (missense variant)	not specified	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 disorder	GLikely benign
Select item 2385373	NM_012464.5(TLL1):c.608T>C (p.Ile203Thr)	TLL1 (I203T)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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 3326323	NM_012464.5(TLL1):c.857C>T (p.Ser286Leu)	TLL1 (S286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 2366955	NM_012464.5(TLL1):c.950G>A (p.Arg317His)	LOC123493235, TLL1 (R317H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539937	NM_012464.5(TLL1):c.965T>C (p.Ile322Thr)	LOC123493235, TLL1 (I322T)	Single nucleotide variant (missense variant)	not specified	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)	not specified +1 more	GUncertain significance
Select item 3042357	NM_012464.5(TLL1):c.1043-9dup	TLL1	Duplication (intron variant)	TLL1-related disorder	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 3326326	NM_012464.5(TLL1):c.1070A>G (p.Asn357Ser)	TLL1 (N357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471672	NM_012464.5(TLL1):c.1073G>A (p.Gly358Asp)	TLL1 (G358D)	Single nucleotide variant (missense variant)	not specified	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 disorder	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 disorder	GBenign
Select item 3039650	NM_012464.5(TLL1):c.1233C>T (p.Asp411=)	TLL1	Single nucleotide variant (synonymous variant)	TLL1-related disorder	GLikely benign
Select item 2541415	NM_012464.5(TLL1):c.1343A>C (p.Asn448Thr)	TLL1 (N448T)	Single nucleotide variant (missense variant)	not specified	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 disorder	GLikely benign
Select item 3251023	NM_012464.5(TLL1):c.1446T>C (p.Tyr482=)	LOC126807212, TLL1	Single nucleotide variant (synonymous variant)	not provided	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 3353077	NM_012464.5(TLL1):c.1586A>G (p.Asn529Ser)	TLL1 (N529S)	Single nucleotide variant (missense variant)	TLL1-related disorder	GUncertain significance
Select item 2375889	NM_012464.5(TLL1):c.1597A>C (p.Ile533Leu)	TLL1 (I533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177848	NM_012464.5(TLL1):c.1604G>A (p.Arg535His)	TLL1 (R535H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306050	NM_012464.5(TLL1):c.1628A>C (p.Glu543Ala)	TLL1 (E543A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045388	NM_012464.5(TLL1):c.1633A>G (p.Ile545Val)	TLL1 (I545V)	Single nucleotide variant (missense variant)	TLL1-related disorder	GBenign
Select item 3177849	NM_012464.5(TLL1):c.1649A>G (p.Asn550Ser)	TLL1 (N550S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3177850	NM_012464.5(TLL1):c.1678G>A (p.Gly560Arg)	TLL1 (G560R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177852	NM_012464.5(TLL1):c.1702G>T (p.Ala568Ser)	TLL1 (A568S)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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 3326320	NM_012464.5(TLL1):c.1822G>A (p.Gly608Ser)	TLL1 (G608S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3374945	NM_012464.5(TLL1):c.1830C>A (p.Asp610Glu)	TLL1 (D610E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634896	NM_012464.5(TLL1):c.1841_1846+3dup	TLL1	Duplication (splice donor variant)	TLL1-related disorder	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)	not specified	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 3177853	NM_012464.5(TLL1):c.1918C>G (p.Pro640Ala)	TLL1 (P640A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523352	NM_012464.5(TLL1):c.1955C>G (p.Thr652Ser)	TLL1 (T652S)	Single nucleotide variant (missense variant)	not specified	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 3326318	NM_012464.5(TLL1):c.2026G>A (p.Val676Met)	TLL1 (V676M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599540	NM_012464.5(TLL1):c.2031G>T (p.Glu677Asp)	TLL1 (E677D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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