Full data view for gene TMLHE

Information The variants shown are described using the NM_018196.3 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

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     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.14_16dup r.(?) p.(Leu6*) Unknown - pathogenic g.154774922_154774924dup - - - TMLHE_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71C>T r.(?) p.(Pro24Leu) Unknown - likely benign g.154774867G>A - TMLHE(NM_018196.3):c.71C>T (p.(Pro24Leu)) - TMLHE_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140A>G r.(?) p.(Lys47Arg) Unknown - likely benign g.154774798T>C g.155545137T>C TMLHE(NM_001184797.1):c.140A>G (p.(Lys47Arg)) - TMLHE_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181+50G>A r.(=) p.(=) Maternal (inferred) - VUS g.154774707C>T g.155545046C>T - - TMLHE_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.181+50G>A r.(=) p.(=) Maternal (inferred) - VUS g.154774707C>T g.155545046C>T - - TMLHE_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.181+94C>T r.(=) p.(=) Maternal (inferred) - VUS g.154774663G>A g.155545002G>A - - TMLHE_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.181+94C>T r.(=) p.(=) Maternal (inferred) - VUS g.154774663G>A g.155545002G>A - - TMLHE_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.182-162A>G r.(=) p.(=) Maternal (inferred) - VUS g.154754455T>C g.155524794T>C - - TMLHE_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.182-162A>G r.(=) p.(=) Maternal (inferred) - VUS g.154754455T>C g.155524794T>C - - TMLHE_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.188A>C r.(?) p.(Lys63Thr) Unknown - likely benign g.154754287T>G g.155524626T>G TMLHE(NM_018196.3):c.188A>C (p.K63T) - TMLHE_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.208C>T r.(?) p.(Arg70Cys) Unknown - likely benign g.154754267G>A - TMLHE(NM_001184797.1):c.208C>T (p.(Arg70Cys)) - TMLHE_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209G>A r.(?) p.(Arg70His) Unknown - VUS g.154754266C>T g.155524605C>T TMLHE(NM_001184797.1):c.209G>A (p.(Arg70His)) - TMLHE_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.220G>A r.(?) p.(Val74Ile) Unknown - VUS g.154754255C>T g.155524594C>T TMLHE(NM_018196.3):c.220G>A (p.V74I) - TMLHE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224G>A r.(?) p.(Trp75*) Unknown - VUS g.154754251C>T - TMLHE(NM_018196.4):c.224G>A (p.W75*) - TMLHE_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.230G>A r.(?) p.(Arg77Gln) Unknown - VUS g.154754245C>T g.155524584C>T TMLHE(NM_018196.3):c.230G>A (p.R77Q), TMLHE(NM_018196.4):c.230G>A (p.R77Q) - TMLHE_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.230G>A r.(?) p.(Arg77Gln) Unknown - VUS g.154754245C>T g.155524584C>T TMLHE(NM_018196.3):c.230G>A (p.R77Q), TMLHE(NM_018196.4):c.230G>A (p.R77Q) - TMLHE_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.230G>A r.(?) p.(Arg77Gln) Unknown - VUS g.154754245C>T - TMLHE(NM_018196.3):c.230G>A (p.R77Q), TMLHE(NM_018196.4):c.230G>A (p.R77Q) - TMLHE_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.248C>T r.(?) p.(Ala83Val) Unknown - likely benign g.154754227G>A g.155524566G>A TMLHE(NM_018196.3):c.248C>T (p.A83V), TMLHE(NM_018196.4):c.248C>T (p.A83V) - TMLHE_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.248C>T r.(?) p.(Ala83Val) Unknown - likely benign g.154754227G>A - TMLHE(NM_018196.3):c.248C>T (p.A83V), TMLHE(NM_018196.4):c.248C>T (p.A83V) - TMLHE_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278G>A r.(?) p.(Arg93His) Unknown - VUS g.154754197C>T g.155524536C>T TMLHE(NM_001184797.1):c.278G>A (p.(Arg93His)), TMLHE(NM_018196.4):c.278G>A (p.R93H) - TMLHE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278G>A r.(?) p.(Arg93His) Unknown - VUS g.154754197C>T g.155524536C>T TMLHE(NM_001184797.1):c.278G>A (p.(Arg93His)), TMLHE(NM_018196.4):c.278G>A (p.R93H) - TMLHE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.350T>G r.(?) p.(Phe117Cys) Unknown - likely benign g.154754125A>C g.155524464A>C TMLHE(NM_001184797.1):c.350T>G (p.(Phe117Cys)) - TMLHE_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358+214T>C r.(=) p.(=) Maternal (inferred) - VUS g.154753903A>G g.155524242A>G - - TMLHE_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.358+214T>C r.(=) p.(=) Maternal (inferred) - VUS g.154753903A>G g.155524242A>G - - TMLHE_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.361C>T r.(?) p.(Pro121Ser) Unknown - VUS g.154743924G>A - TMLHE(NM_018196.3):c.361C>T (p.P121S) - TMLHE_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385G>T r.(?) p.(Asp129Tyr) Unknown - VUS g.154743900C>A - TMLHE(NM_018196.3):c.385G>T (p.(Asp129Tyr)) - TMLHE_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.403A>G r.(?) p.(Lys135Glu) Unknown - likely benign g.154743882T>C - - - TMLHE_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.448A>T r.(?) p.(Ile150Leu) Unknown - likely benign g.154743837T>A g.155514176T>A TMLHE(NM_018196.3):c.448A>T (p.(Ile150Leu)), TMLHE(NM_018196.4):c.448A>T (p.I150L) - TMLHE_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.448A>T r.(?) p.(Ile150Leu) Unknown - likely benign g.154743837T>A g.155514176T>A TMLHE(NM_018196.3):c.448A>T (p.(Ile150Leu)), TMLHE(NM_018196.4):c.448A>T (p.I150L) - TMLHE_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492G>A r.(?) p.(Ser164=) Unknown - likely benign g.154743793C>T - TMLHE(NM_018196.3):c.492G>A (p.S164=) - TMLHE_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.523G>A r.(?) p.(Glu175Lys) Maternal (confirmed) ACMG VUS g.154743762C>T - - - TMLHE_000039 ACMG: PM2_SUP, BP4 - - - Germline - - - - - DNA SEQ-NG-I Blood WES trio autism 180331 - - M ? Germany - - - - - 1 Andreas Laner
-?/. - c.536A>T r.(?) p.(Lys179Met) Unknown - likely benign g.154743749T>A - TMLHE(NM_018196.3):c.536A>T (p.K179M) - TMLHE_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.573C>T r.(?) p.(=) Parent #1 - likely benign g.154743712G>A g.155514051G>A F191F - TMLHE_000021 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.573C>T r.(?) p.(Phe191=) Unknown - likely benign g.154743712G>A g.155514051G>A TMLHE(NM_018196.3):c.573C>T (p.F191=), TMLHE(NM_018196.4):c.573C>T (p.(Phe191=)) - TMLHE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.573C>T r.(?) p.(Phe191=) Unknown - benign g.154743712G>A - TMLHE(NM_018196.3):c.573C>T (p.F191=), TMLHE(NM_018196.4):c.573C>T (p.(Phe191=)) - TMLHE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.611A>G r.(?) p.(Lys204Arg) Unknown - likely benign g.154743674T>C g.155514013T>C TMLHE(NM_018196.3):c.611A>G (p.K204R) - TMLHE_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.632T>C r.(?) p.(Leu211Ser) Unknown - VUS g.154743653A>G g.155513992A>G TMLHE(NM_001184797.1):c.632T>C (p.(Leu211Ser)) - TMLHE_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.638+2del r.spl? p.? Unknown - likely pathogenic g.154743645del g.155513984del - - TMLHE_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.639-7C>G r.(=) p.(=) Unknown - VUS g.154741460G>C - TMLHE(NM_018196.3):c.639-7C>G (p.?) - TMLHE_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.643A>G r.(?) p.(Thr215Ala) Unknown - VUS g.154741449T>C - TMLHE(NM_018196.4):c.643A>G (p.(Thr215Ala)) - TMLHE_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.704C>A r.(?) p.(Thr235Asn) Unknown - likely benign g.154741388G>T g.155511727G>T TMLHE(NM_018196.3):c.704C>A (p.T235N) - TMLHE_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.758+246dup r.(=) p.(=) Unknown - VUS g.154741099dup g.155511438dup - - TMLHE_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.758+246dup r.(=) p.(=) Unknown - VUS g.154741099dup g.155511438dup - - TMLHE_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.759-173A>C r.(=) p.(=) Maternal (inferred) - VUS g.154736968T>G g.155507307T>G - - TMLHE_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.759-173A>C r.(=) p.(=) Maternal (inferred) - VUS g.154736968T>G g.155507307T>G - - TMLHE_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.798T>C r.(?) p.(Gly266=) Unknown - likely benign g.154736756A>G - TMLHE(NM_018196.3):c.798T>C (p.G266=) - TMLHE_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.826T>A r.(?) p.(Tyr276Asn) Unknown - VUS g.154736728A>T - TMLHE(NM_018196.3):c.826T>A (p.Y276N) - TMLHE_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.839A>G r.(?) p.(Gln280Arg) Unknown - VUS g.154736715T>C - TMLHE(NM_018196.4):c.839A>G (p.Q280R) - TMLHE_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.859G>A r.(?) p.(Glu287Lys) Unknown - likely benign g.154736695C>T - TMLHE(NM_018196.3):c.859G>A (p.E287K) - TMLHE_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901T>C r.(?) p.(Tyr301His) Unknown - VUS g.154736653A>G g.155506992A>G TMLHE(NM_018196.3):c.901T>C (p.Y301H) - TMLHE_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.963C>T r.(?) p.(Ile321=) Unknown - likely benign g.154736591G>A g.155506930G>A TMLHE(NM_018196.3):c.963C>T (p.I321=) - TMLHE_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.996-273_*1155355dup r.0? p.0? Maternal (confirmed) - pathogenic g.153565841_154722429dup g.154337626_155494214dup - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.1012C>T r.(?) p.(Arg338Trp) Unknown - VUS g.154722140G>A - TMLHE(NM_018196.3):c.1012C>T (p.R338W) - TMLHE_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1070G>A r.(?) p.(Arg357Gln) Unknown - VUS g.154722082C>T - TMLHE(NM_018196.3):c.1070G>A (p.R357Q) - TMLHE_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1107G>T r.(?) p.(Glu369Asp) Unknown - VUS g.154722045C>A - TMLHE(NM_018196.3):c.1107G>T (p.(Glu369Asp)) - TMLHE_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1135-30C>G r.(=) p.(=) Maternal (inferred) - VUS g.154721357G>C g.155491696G>C - - TMLHE_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1135-30C>G r.(=) p.(=) Maternal (inferred) - VUS g.154721357G>C g.155491696G>C - - TMLHE_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1157G>A r.(?) p.(Arg386His) Unknown - VUS g.154721305C>T g.155491644C>T TMLHE(NM_018196.3):c.1157G>A (p.R386H) - TMLHE_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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