Full data view for gene NKX2-1

Information The variants shown are described using the NM_003317.3 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.-744G>A r.(?) p.(=) Unknown - likely benign g.36989306C>T g.36520101C>T NKX2-1(NM_001079668.3):c.29G>A (p.R10Q) - NKX2-1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-688C>T r.(?) p.(=) Unknown - likely benign g.36989250G>A g.36520045G>A NKX2-1(NM_001079668.2):c.77+8C>T - NKX2-1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-85G>T r.(?) p.(=) Unknown - benign g.36988647C>A g.36519442C>A - - NKX2-1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.? r.? p.? Unknown - pathogenic g.? - c.650C>A (Ser217Ter) - SERPINA1_000009 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3171 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.100C>A r.(?) p.(Leu34Ile) Unknown - likely benign g.36988463G>T g.36519258G>T NKX2-1(NM_001079668.2):c.190C>A (p.(Leu64Ile)) - NKX2-1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116C>G r.(?) p.(Ala39Gly) Unknown - VUS g.36988447G>C - NKX2-1(NM_003317.4):c.116C>G (p.A39G) - NKX2-1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.128_137del r.(?) p.(Gln43ArgfsTer25) Unknown - pathogenic g.36988431_36988440del g.36519226_36519235del NKX2-1(NM_003317.4):c.128_137delAGGGCCAGGC (p.Q43Rfs*25) - NKX2-1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.152C>A r.(?) p.(Ala51Glu) Unknown - VUS g.36988411G>T - - - NKX2-1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.177dup r.(?) p.(His60Alafs*349) Unknown - pathogenic g.36988389dup - NKX2-1(NM_001079668.3):c.267dupG (p.H90Afs*349) - NKX2-1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.188_216del r.(?) p.(Ala63GlyfsTer336) Unknown - likely pathogenic g.36988353_36988381del g.36519148_36519176del NKX2-1(NM_001079668.2):c.278_306del (p.(Ala93GlyfsTer336)) - NKX2-1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.271_279del r.(?) p.(Leu91_Asn93del) Unknown - VUS g.36988290_36988298del - NKX2-1(NM_003317.3):c.271_279delCTGGGCAAC (p.L91_N93del) - NKX2-1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292C>T r.(?) p.(Pro98Ser) Unknown - VUS g.36988271G>A g.36519066G>A - - NKX2-1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347C>T r.(?) p.(Ala116Val) Unknown - VUS g.36988216G>A - NKX2-1(NM_003317.4):c.347C>T (p.A116V) - NKX2-1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352C>A r.(?) p.(Pro118Thr) Unknown - VUS g.36988211G>T - NKX2-1(NM_003317.4):c.352C>A (p.P118T) - NKX2-1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.356A>C r.(?) p.(Asp119Ala) Unknown - VUS g.36988207T>G g.36519002T>G NKX2-1(NM_003317.4):c.356A>C (p.D119A) - NKX2-1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.373+15C>T r.(=) p.(=) Unknown - likely benign g.36988175G>A g.36518970G>A - - NKX2-1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.434C>A r.(?) p.(Ser145Ter) Unknown - pathogenic g.36987165G>T g.36517960G>T NKX2-1(NM_001079668.3):c.524C>A (p.S175*) - NKX2-1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.434C>A r.(?) p.(Ser145Ter) Unknown - pathogenic g.36987165G>T - NKX2-1(NM_001079668.3):c.524C>A (p.S175*) - NKX2-1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.436C>G r.(?) p.(Leu146Val) Unknown - pathogenic g.36987163G>C g.36517958G>C - - NKX2-1_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.453G>C r.(?) p.(Lys151Asn) Unknown - VUS g.36987146C>G - - - NKX2-1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.485_487del r.(?) p.(Arg162del) Unknown - likely pathogenic g.36987113_36987115del g.36517908_36517910del NKX2-1(NM_003317.4):c.485_487delGGA (p.R162del) - NKX2-1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.491_492del r.(?) p.(Arg164ProfsTer244) Unknown - likely pathogenic g.36987109_36987110del g.36517904_36517905del NKX2-1(NM_003317.4):c.491_492delGC (p.R164Pfs*244) - NKX2-1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.515A>C r.(?) p.(Gln172Pro) Unknown - likely pathogenic g.36987084T>G - - - NKX2-1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.520_528del r.(?) p.(Tyr174_Leu176del) Unknown - VUS g.36987073_36987081del g.36517868_36517876del - - NKX2-1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.523G>T r.(?) p.(Glu175*) Parent #1 - pathogenic g.36987076C>A g.36517871C>A - - NKX2-1_000027 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs137852693 Germline - 2/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.532C>T r.(?) p.(Arg178Ter) Unknown - pathogenic g.36987067G>A g.36517862G>A - - NKX2-1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.533G>C r.(?) p.(Arg178Pro) Unknown - VUS g.36987066C>G g.36517861C>G - - NKX2-1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.561G>A r.(?) p.(Ser187=) Unknown - likely benign g.36987038C>T - NKX2-1(NM_003317.3):c.561G>A (p.S187=) - NKX2-1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.572G>C r.(?) p.(Arg191Pro) Unknown - VUS g.36987027C>G - - - NKX2-1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.574G>T r.(?) p.(Glu192*) Unknown - likely pathogenic g.36987025C>A - - - NKX2-1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.603G>T r.(?) p.(Thr201=) Unknown - VUS g.36986996C>A g.36517791C>A NKX2-1(NM_003317.4):c.603G>T (p.T201=) - NKX2-1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.637C>T r.(?) p.(Arg213Cys) Unknown - VUS g.36986962G>A g.36517757G>A - - NKX2-1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.673G>A r.(?) p.(Ala225Thr) Unknown - likely pathogenic g.36986926C>T - - - NKX2-1_000042 - - - rs2139407155 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.675_694dup r.(?) p.(Asp232GlyfsTer40) Unknown - pathogenic g.36986905_36986924dup g.36517700_36517719dup NKX2-1(NM_003317.4):c.675_694dupGCAGCAGCAACTGCAGCAGG (p.D232Gfs*40) - NKX2-1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.713G>T r.(?) p.(Gly238Val) Unknown - VUS g.36986886C>A g.36517681C>A NKX2-1(NM_003317.3):c.713G>T (p.G238V) - NKX2-1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.715G>A r.(?) p.(Gly239Ser) Unknown - VUS g.36986884C>T - NKX2-1(NM_003317.4):c.715G>A (p.G239S) - NKX2-1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.715_723dup r.(?) p.(Gly239_Gly241dup) Unknown - likely benign g.36986888_36986896dup g.36517683_36517691dup NKX2-1(NM_003317.3):c.715_723dupGGCGGGGGC (p.G239_G241dup), NKX2-1(NM_003317.4):c.715_723dupGGCGGGGGC (p.G239_G241dup) - NKX2-1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.715_723dup r.(?) p.(Gly239_Gly241dup) Unknown - VUS g.36986888_36986896dup g.36517683_36517691dup NKX2-1(NM_003317.3):c.715_723dupGGCGGGGGC (p.G239_G241dup), NKX2-1(NM_003317.4):c.715_723dupGGCGGGGGC (p.G239_G241dup) - NKX2-1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.777G>A r.(?) p.(=) Unknown - benign g.36986822C>T - NKX2-1(NM_003317.4):c.777G>A (p.A259=) - NKX2-1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.899C>T r.(?) p.(Ala300Val) Unknown - likely benign g.36986700G>A g.36517495G>A NKX2-1(NM_001079668.2):c.989C>T (p.(Ala330Val)) - NKX2-1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.923G>A r.(?) p.(Ser308Asn) Unknown - VUS g.36986676C>T - - - NKX2-1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.950del r.(?) p.(Pro317ArgfsTer34) Unknown - pathogenic g.36986651del g.36517446del - - NKX2-1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.992C>T r.(?) p.(Ala331Val) Unknown - likely benign g.36986607G>A - NKX2-1(NM_001079668.2):c.1082C>T (p.(Ala361Val)) - NKX2-1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1001C>A r.(?) p.(Ala334Asp) Unknown - VUS g.36986598G>T - NKX2-1(NM_001079668.2):c.1091C>A (p.(Ala364Asp)) - NKX2-1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1003G>T r.(?) p.(Ala335Ser) Unknown - benign g.36986596C>A g.36517391C>A NKX2-1(NM_003317.3):c.1003G>T (p.A335S), NKX2-1(NM_003317.4):c.1003G>T (p.A335S) - NKX2-1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1003G>T r.(?) p.(Ala335Ser) Unknown - likely benign g.36986596C>A g.36517391C>A NKX2-1(NM_003317.3):c.1003G>T (p.A335S), NKX2-1(NM_003317.4):c.1003G>T (p.A335S) - NKX2-1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1003G>T r.(?) p.(Ala335Ser) Unknown - benign g.36986596C>A g.36517391C>A NKX2-1(NM_003317.3):c.1003G>T (p.A335S), NKX2-1(NM_003317.4):c.1003G>T (p.A335S) - NKX2-1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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