Full data view for gene TANC2

Information The variants shown are described using the NM_025185.3 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Age at death     

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Data_av     

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Owner     
?/. - c.49C>T r.(?) p.(Arg17Cys) Unknown - VUS g.61086969C>T - TANC2(NM_025185.4):c.49C>T (p.R17C) - TANC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127C>T r.(?) p.(Arg43Cys) Unknown - likely benign g.61151363C>T - TANC2(NM_025185.4):c.127C>T (p.R43C) - TANC2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140-20G>T r.(=) p.(=) Unknown - likely benign g.61176516G>T - TANC2(NM_025185.4):c.140-20G>T - TANC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160G>A r.(?) p.(Asp54Asn) Unknown - likely benign g.61176556G>A - TANC2(NM_025185.4):c.160G>A (p.(Asp54Asn)) - TANC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.496G>T r.(?) p.(Ala166Ser) Unknown - likely benign g.61278267G>T - TANC2(NM_025185.4):c.496G>T (p.A166S) - TANC2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.536G>C r.(?) p.(Ser179Thr) Unknown - VUS g.61278307G>C - TANC2(NM_025185.4):c.536G>C (p.S179T) - TANC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.548-5_548-4del r.spl? p.? Unknown - likely benign g.61315170_61315171del - TANC2(NM_025185.4):c.548-5_548-4del - TANC2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.645G>A r.(?) p.(Gln215=) Unknown - benign g.61315272G>A g.63237911G>A TANC2(NM_025185.4):c.645G>A (p.Q215=) - TANC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.671G>C r.(?) p.(Cys224Ser) Unknown - likely benign g.61315298G>C - TANC2(NM_025185.3):c.671G>C (p.(Cys224Ser)) - TANC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.812-3C>T r.spl? p.? Unknown - likely benign g.61345106C>T - TANC2(NM_025185.4):c.812-3C>T - TANC2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.845A>G r.(?) p.(Tyr282Cys) Unknown - VUS g.61345142A>G - TANC2(NM_025185.4):c.845A>G (p.(Tyr282Cys)) - TANC2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.917G>T r.(?) p.(Arg306Leu) Unknown - VUS g.61345214G>T - TANC2(NM_025185.3):c.917G>T (p.(Arg306Leu)) - TANC2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1030C>T r.(?) p.(Arg344*) Unknown - likely pathogenic g.61391841C>T - TANC2(NM_025185.4):c.1030C>T (p.R344*) - TANC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1166A>G r.(?) p.(His389Arg) Unknown - VUS g.61391977A>G - TANC2(NM_025185.4):c.1166A>G (p.H389R) - TANC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1166A>G r.(?) p.(His389Arg) Unknown - VUS g.61391977A>G - TANC2(NM_025185.4):c.1166A>G (p.H389R) - TANC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1213C>T r.(?) p.(Pro405Ser) Unknown - VUS g.61392024C>T - TANC2(NM_025185.4):c.1213C>T (p.P405S) - TANC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1219C>T r.(?) p.(His407Tyr) Unknown - VUS g.61392030C>T - TANC2(NM_025185.3):c.1219C>T (p.(His407Tyr)) - TANC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1318C>T r.(?) p.(Arg440Trp) Unknown - VUS g.61396416C>T - TANC2(NM_025185.4):c.1318C>T (p.(Arg440Trp), p.R440W) - TANC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1318C>T r.(?) p.(Arg440Trp) Unknown - likely benign g.61396416C>T - TANC2(NM_025185.4):c.1318C>T (p.(Arg440Trp), p.R440W) - TANC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1364A>G r.(?) p.(Tyr455Cys) Unknown - likely benign g.61417472A>G - TANC2(NM_025185.4):c.1364A>G (p.(Tyr455Cys)) - TANC2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1370A>G r.(?) p.(Tyr457Cys) Both (homozygous) - VUS g.61417478A>G g.63340117A>G NM_025185:c.1370A>G - TANC2_000045 - PubMed: Chatron 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DEE FamEPatIII2 PubMed: Chatron 2020 3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives M yes Turkey - - - - - 2 Johan den Dunnen
?/. - c.1370A>G r.(?) p.(Tyr457Cys) Both (homozygous) - VUS g.61417478A>G g.63340117A>G NM_025185:c.1370A>G - TANC2_000045 - PubMed: Chatron 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DEE FamEPatIII1 PubMed: Chatron 2020 brother M yes Turkey - 9d - - - 1 Johan den Dunnen
?/. - c.1675G>T r.(?) p.(Val559Leu) Unknown - VUS g.61428700G>T - TANC2(NM_025185.4):c.1675G>T (p.V559L) - TANC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1795C>T r.(?) p.(Arg599*) Unknown - pathogenic g.61432186C>T - TANC2(NM_025185.4):c.1795C>T (p.R599*) - TANC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1801G>A r.(?) p.(Glu601Lys) Unknown - VUS g.61432192G>A - TANC2(NM_025185.4):c.1801G>A (p.E601K) - TANC2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2278C>T r.(?) p.(Arg760Cys) Unknown - likely pathogenic g.61432669C>T g.63355308C>T NM_025185.3:c.2278C>T (Arg760Cys) - TANC2_000014 candidate variant PubMed: de Ligt 2012 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID 23033978-Trio42 PubMed: de Ligt 2012 - M - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.2333A>T r.(?) p.(Glu778Val) Unknown - likely pathogenic g.61432724A>T g.63355363A>T - - TANC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2339C>T r.(?) p.(Thr780Ile) Unknown - VUS g.61432730C>T - TANC2(NM_025185.4):c.2339C>T (p.T780I) - TANC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2416C>T r.(?) p.(Arg806*) Unknown - likely pathogenic g.61457134C>T - - - TANC2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2638A>G r.(?) p.(Thr880Ala) Unknown - VUS g.61466714A>G - TANC2(NM_025185.3):c.2638A>G (p.(Thr880Ala)) - TANC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2781del r.(?) p.(Ala928GlnfsTer4) Unknown - likely pathogenic g.61466857del g.63389496del - - TANC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2882G>A r.(?) p.(Arg961Gln) Unknown - VUS g.61473156G>A - TANC2(NM_025185.3):c.2882G>A (p.(Arg961Gln)), TANC2(NM_025185.4):c.2882G>A (p.R961Q) - TANC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2882G>A r.(?) p.(Arg961Gln) Unknown - likely benign g.61473156G>A - TANC2(NM_025185.3):c.2882G>A (p.(Arg961Gln)), TANC2(NM_025185.4):c.2882G>A (p.R961Q) - TANC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2917T>C r.(?) p.(Cys973Arg) Unknown - VUS g.61473191T>C - TANC2(NM_025185.3):c.2917T>C (p.(Cys973Arg)) - TANC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3098G>A r.(?) p.(Trp1033*) Unknown - likely pathogenic g.61476264G>A - TANC2(NM_025185.4):c.3098G>A (p.W1033*) - TANC2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3327C>T r.(?) p.(Ser1109=) Unknown - likely benign g.61483598C>T - TANC2(NM_025185.4):c.3327C>T (p.S1109=) - TANC2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3327C>T r.(?) p.(Ser1109=) Unknown - likely benign g.61483598C>T - TANC2(NM_025185.4):c.3327C>T (p.S1109=) - TANC2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3439T>C r.(?) p.(Ser1147Pro) Unknown - likely benign g.61488943T>C - TANC2(NM_025185.4):c.3439T>C (p.S1147P) - TANC2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3544-10C>T r.(=) p.(=) Unknown - likely benign g.61489349C>T - TANC2(NM_025185.4):c.3544-10C>T - TANC2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3544-9G>A r.(=) p.(=) Unknown - likely benign g.61489350G>A - TANC2(NM_025185.4):c.3544-9G>A - TANC2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3646G>A r.(?) p.(Val1216Ile) Unknown - likely benign g.61489461G>A - TANC2(NM_025185.3):c.3646G>A (p.(Val1216Ile)) - TANC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3726C>T r.(?) p.(Ile1242=) Unknown - likely benign g.61490953C>T - TANC2(NM_025185.4):c.3726C>T (p.I1242=) - TANC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3797G>A r.(?) p.(Arg1266His) Unknown - VUS g.61492917G>A - TANC2(NM_025185.3):c.3797G>A (p.(Arg1266His)), TANC2(NM_025185.4):c.3797G>A (p.R1266H) - TANC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3797G>A r.(?) p.(Arg1266His) Unknown - VUS g.61492917G>A - TANC2(NM_025185.3):c.3797G>A (p.(Arg1266His)), TANC2(NM_025185.4):c.3797G>A (p.R1266H) - TANC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3845A>G r.(?) p.(Asp1282Gly) Unknown - VUS g.61492965A>G - - - TANC2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4154C>T r.(?) p.(Pro1385Leu) Unknown - likely benign g.61497497C>T - TANC2(NM_025185.3):c.4154C>T (p.(Pro1385Leu)) - TANC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4198C>T r.(?) p.(Gln1400Ter) Unknown - likely pathogenic g.61497541C>T g.63420180C>T TANC2(NM_025185.4):c.4198C>T (p.Q1400*) - TANC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4405C>T r.(?) p.(Arg1469Trp) Unknown - likely benign g.61497748C>T - TANC2(NM_025185.3):c.4405C>T (p.(Arg1469Trp)) - TANC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4447C>T r.(?) p.(Gln1483Ter) Unknown - VUS g.61497790C>T g.63420429C>T - - TANC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4456T>C r.(?) p.(Ser1486Pro) Unknown - VUS g.61497799T>C - TANC2(NM_001394998.1):c.4708T>C (p.S1570P) - TANC2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4597C>A r.(?) p.(Pro1533Thr) Unknown - likely benign g.61497940C>A - TANC2(NM_025185.3):c.4597C>A (p.(Pro1533Thr)) - TANC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4610G>A r.(?) p.(Arg1537Gln) Unknown - VUS g.61497953G>A - TANC2(NM_025185.4):c.4610G>A (p.R1537Q) - TANC2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4676G>A r.(?) p.(Gly1559Asp) Unknown - VUS g.61498019G>A - TANC2(NM_025185.4):c.4676G>A (p.G1559D) - TANC2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4679C>T r.(?) p.(Ser1560Leu) Unknown - VUS g.61498022C>T g.63420661C>T TANC2(NM_025185.3):c.4679C>T (p.(Ser1560Leu)) - TANC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4684G>A r.(?) p.(Val1562Met) Unknown - likely benign g.61498027G>A - TANC2(NM_025185.4):c.4684G>A (p.V1562M) - TANC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4713_4716del r.(?) p.(Gln1572PhefsTer41) Unknown - likely pathogenic g.61498056_61498059del g.63420695_63420698del - - TANC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4724G>T r.(?) p.(Gly1575Val) Unknown - likely benign g.61498067G>T g.63420706G>T TANC2(NM_025185.3):c.4724G>T (p.(Gly1575Val)) - TANC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4730C>G r.(?) p.(Pro1577Arg) Unknown - VUS g.61498073C>G - TANC2(NM_025185.3):c.4730C>G (p.(Pro1577Arg)) - TANC2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4835T>A r.(?) p.(Ile1612Asn) Unknown - VUS g.61498178T>A - TANC2(NM_025185.3):c.4835T>A (p.(Ile1612Asn)) - TANC2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4864G>T r.(?) p.(Val1622Phe) Unknown - likely benign g.61498207G>T - TANC2(NM_025185.3):c.4864G>T (p.(Val1622Phe)) - TANC2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4969C>T r.(?) p.(Arg1657Trp) Unknown - VUS g.61498312C>T - TANC2(NM_025185.3):c.4969C>T (p.(Arg1657Trp)) - TANC2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4993G>C r.(?) p.(Gly1665Arg) Unknown - VUS g.61498336G>C - TANC2(NM_025185.4):c.4993G>C (p.G1665R) - TANC2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5179C>T r.(?) p.(Pro1727Ser) Unknown - VUS g.61498522C>T - TANC2(NM_025185.4):c.5179C>T (p.P1727S) - TANC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5351C>T r.(?) p.(Pro1784Leu) Unknown - VUS g.61498694C>T g.63421333C>T TANC2(NM_025185.3):c.5351C>T (p.(Pro1784Leu)) - TANC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5382C>G r.(?) p.(Asn1794Lys) Unknown - likely benign g.61498725C>G - TANC2(NM_025185.3):c.5382C>G (p.(Asn1794Lys)) - TANC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5425G>C r.(?) p.(Glu1809Gln) Unknown - VUS g.61498768G>C - TANC2(NM_025185.4):c.5425G>C (p.E1809Q) - TANC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5561G>A r.(?) p.(Arg1854Gln) Unknown - VUS g.61498904G>A - TANC2(NM_025185.4):c.5561G>A (p.R1854Q) - TANC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5744T>C r.(?) p.(Leu1915Pro) Unknown - VUS g.61499087T>C g.63421726T>C TANC2(NM_025185.3):c.5744T>C (p.(Leu1915Pro)) - TANC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6587C>T r.(=) p.(=) Unknown - likely benign g.61505903C>T - TANC2(NM_025185.4):c.*6587C>T - CYB561_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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