Full data view for gene NALCN

Information The variants shown are described using the NM_052867.2 transcript reference sequence.

122 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
./. 3 c.110G>A r.(?) p.(Trp37*) Maternal (confirmed) - pathogenic g.102047715C>T g.101395364C>T - - NALCN_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.127C>T r.(?) p.(Arg43Cys) Unknown - VUS g.102047698G>A - NALCN(NM_001350748.2):c.127C>T (p.R43C) - NALCN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.184G>A r.(?) p.(Glu62Lys) Unknown - VUS g.102047641C>T - NALCN(NM_052867.2):c.184G>A (p.(Glu62Lys)) - NALCN_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208G>T r.(?) p.(Val70Leu) Unknown - VUS g.102047617C>A - NALCN(NM_052867.4):c.208G>T (p.V70L) - NALCN_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.515+6C>T r.(=) p.(=) Unknown - likely benign g.102029262G>A - NALCN(NM_052867.2):c.515+6C>T (p.?) - NALCN_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635C>G r.(?) p.(Thr212Arg) Unknown - VUS g.102029060G>C - NALCN(NM_052867.4):c.635C>G (p.(Thr212Arg)) - chr13_002631 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.892T>A r.(?) p.(Ser298Thr) Unknown - VUS g.101944625A>T - - - NALCN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.946G>A r.(?) p.(Val316Met) Unknown - likely pathogenic (!) g.101944442C>T - - - NALCN_000057 - - - - De novo - - - - - DNA SEQ-NG - WES CLIFAHDD, IHPRF1 228P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
?/. - c.956C>G r.(?) p.(Ala319Gly) Unknown - VUS g.101944432G>C g.101292081G>C - - NALCN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.965T>C r.(?) p.(Ile322Thr) Parent #1 - pathogenic g.101944423A>G g.101292072A>G - - NALCN_000006 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH6816_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.1078C>T r.(?) p.(Gln360Ter) Unknown - VUS g.101936340G>A - NALCN(NM_001350748.1):c.1078C>T (p.Q360*) - NALCN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1117G>A r.(?) p.(Ala373Thr) Unknown - VUS g.101936301C>T - NALCN(NM_052867.4):c.1117G>A (p.(Ala373Thr)) - NALCN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1135-1G>A r.spl? p.? Unknown - VUS g.101910926C>T - NALCN(NM_001350748.1):c.1135-1G>A - NALCN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1162A>G r.(?) p.(Met388Val) Unknown - VUS g.101910898T>C - NALCN(NM_052867.4):c.1162A>G (p.M388V) - NALCN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1168A>G r.(?) p.(Ile390Val) Unknown - VUS g.101910892T>C - NALCN(NM_052867.2):c.1168A>G (p.(Ile390Val)) - NALCN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1186G>A r.(?) p.(Val396Met) Unknown ACMG VUS g.101910874C>T g.101258523C>T NALCN c.1186G>A p.(Val396Met) het [de novo] - NALCN_000056 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood genome sequencing retinal disease 13006157 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
?/. - c.1198G>A r.(?) p.(Val400Met) Unknown - VUS g.101910862C>T g.101258511C>T - - NALCN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1214A>G r.(?) p.(Tyr405Cys) Unknown - VUS g.101910846T>C g.101258495T>C NALCN(NM_052867.2):c.1214A>G (p.(Tyr405Cys)) - NALCN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1216T>G r.(?) p.(Tyr406Asp) Unknown - likely benign g.101910844A>C g.101258493A>C NALCN(NM_052867.3):c.1216T>G (p.Y406D) - NALCN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1276A>T r.(?) p.(Thr426Ser) Unknown - likely benign g.101890264T>A - NALCN(NM_052867.2):c.1276A>T (p.(Thr426Ser)) - NALCN_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1322G>A r.(?) p.(Gly441Glu) Unknown - VUS g.101890218C>T - NALCN(NM_052867.4):c.1322G>A (p.(Gly441Glu)) - chr13_002630 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1365dup r.(?) p.(Leu456Thrfs*32) Unknown - VUS g.101890175dup - NALCN(NM_052867.4):c.1365dup (p.(Leu456Thrfs*32)) - NALCN_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1376T>C r.(?) p.(Ile459Thr) Unknown - VUS g.101890164A>G - NALCN(NM_052867.2):c.1376T>C (p.(Ile459Thr)) - NALCN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1392T>A r.(?) p.(His464Gln) Unknown - VUS g.101890148A>T g.101237797A>T - - NALCN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1514A>T r.(?) p.(Lys505Met) Unknown - likely pathogenic g.101881856T>A g.101229505T>A 13-101881856-T-A - NALCN_000083 - - - - Germline - - - - - DNA SEQ-NG-I blood - CLIFAHDD - - - F no Italy - - - - - 158 Domenico Coviello
+?/. - c.1514del r.(?) p.(Lys505SerfsTer13) Unknown - likely pathogenic g.101881861del g.101229510del NALCN(NM_052867.2):c.1514del (p.(Lys505SerfsTer13)) - NALCN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1526T>C r.(?) p.(Leu509Ser) Unknown - pathogenic g.101881844A>G g.101229493A>G - - NALCN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1567A>G r.(?) p.(Ile523Val) Unknown - VUS g.101881803T>C - NALCN(NM_052867.4):c.1567A>G (p.I523V) - NALCN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1593C>T r.(=) p.(=) Unknown - benign g.101881777G>A g.101229426G>A - - NALCN_000024 - - - rs3916906 Unknown ? 0.36 controls - - - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - - yes none 1 Florian Erger
-/. - c.1593C>T r.(?) p.(Val531=) Unknown - benign g.101881777G>A g.101229426G>A - - NALCN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1627-4T>G r.spl? p.? Unknown - likely benign g.101844409A>C - NALCN(NM_052867.4):c.1627-4T>G - NALCN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.1639A>G r.(?) p.(Met547Val) Parent #1 - pathogenic g.101844393T>C g.101192042T>C - - NALCN_000005 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 28327206-PatBH5908_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.1647G>C r.(?) p.(Gln549His) Unknown - VUS g.101844385C>G - NALCN(NM_052867.4):c.1647G>C (p.Q549H) - NALCN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1675G>A r.(?) p.(Val559Ile) Unknown - VUS g.101844357C>T - NALCN(NM_052867.4):c.1675G>A (p.(Val559Ile)) - chr13_002629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1733A>G r.(?) p.(Tyr578Cys) Unknown - pathogenic g.101844299T>C - NALCN(NM_052867.4):c.1733A>G (p.Y578C) - NALCN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1745A>G r.(?) p.(Tyr582Cys) Unknown ACMG likely pathogenic (dominant) g.101844287T>C g.101191936T>C - - NALCN_000048 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - DNA SEQ - - ? D18-0198 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.1764+1G>A r.spl? p.? Unknown - pathogenic g.101844267C>T - NALCN(NM_001350748.1):c.1764+1G>A - NALCN_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1784T>C r.(?) p.(Val595Ala) Unknown - likely pathogenic g.101828706A>G - NALCN(NM_052867.4):c.1784T>C (p.V595A) - NALCN_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1850G>T r.(?) p.(Ser617Ile) Unknown - VUS g.101797237C>A g.101144886C>A - - NALCN_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 16 c.1894C>T r.(?) p.(Arg632*) Parent #2 - pathogenic g.101797193G>A g.101144842G>A - - NALCN_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. 16 c.1894C>T r.(?) p.(Arg632*) Parent #2 - pathogenic g.101797193G>A g.101144842G>A - - NALCN_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. 16 c.1894C>T r.(?) p.(Arg632*) Paternal (confirmed) - pathogenic g.101797193G>A g.101144842G>A - - NALCN_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. 16 c.1894C>T r.(?) p.(Arg632*) Paternal (confirmed) - pathogenic g.101797193G>A g.101144842G>A - - NALCN_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.2050A>T r.(?) p.(Thr684Ser) Unknown - VUS g.101795499T>A - NALCN(NM_052867.4):c.2050A>T (p.(Thr684Ser)) - chr13_002628 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2118+9T>C r.(=) p.(=) Unknown - benign g.101795422A>G g.101143071A>G - - NALCN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2119-7781A>G r.(=) p.(=) Unknown - likely benign g.101784813T>C - NALCN(NM_052867.4):c.2119-7781A>G - NALCN_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2119-4dup r.spl? p.? Unknown - likely benign g.101777039dup - NALCN(NM_052867.4):c.2119-4dup - NALCN_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2122C>T r.(?) p.(Arg708Cys) Unknown - VUS g.101777029G>A - NALCN(NM_052867.4):c.2122C>T (p.(Arg708Cys)) - NALCN_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2173G>A r.(?) p.(Ala725Thr) Unknown - VUS g.101776978C>T - NALCN(NM_052867.4):c.2173G>A (p.(Ala725Thr)) - NALCN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2203C>T r.(?) p.(Arg735Ter) Unknown - pathogenic g.101763567G>A g.101111216G>A - - NALCN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2203C>T r.(?) p.(Arg735*) Parent #2 ACMG likely pathogenic (recessive) g.101763567G>A g.101111216G>A - - NALCN_000020 - PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat6 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
-/. - c.2241C>T r.(?) p.(Pro747=) Unknown - benign g.101763529G>A g.101111178G>A NALCN(NM_052867.3):c.2241C>T (p.P747=) - NALCN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2242G>A r.(?) p.(Ala748Thr) Unknown - VUS g.101763528C>T - NALCN(NM_052867.4):c.2242G>A (p.(Ala748Thr)) - NALCN_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2266G>A r.(?) p.(Val756Met) Unknown - VUS g.101763504C>T - NALCN(NM_052867.4):c.2266G>A (p.(Val756Met)) - chr13_002627 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2281C>T r.(?) p.(Arg761Cys) Unknown - likely benign g.101763489G>A - NALCN(NM_052867.2):c.2281C>T (p.(Arg761Cys)) - NALCN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2305C>T r.(?) p.(His769Tyr) Parent #1 - benign g.101763029G>A g.101110678G>A - - NALCN_000043 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76776920 Germline - 24/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 24 Mohammed Faruq
?/. - c.2307T>G r.(?) p.(His769Gln) Unknown - VUS g.101763027A>C - NALCN(NM_052867.4):c.2307T>G (p.H769Q) - NALCN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2457-1G>A r.spl? p.? Unknown - pathogenic g.101759961C>T g.101107610C>T NALCN(NM_052867.4):c.2457-1G>A - NALCN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2524C>T r.(?) p.(Arg842Ter) Unknown - pathogenic g.101759893G>A g.101107542G>A - - NALCN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2524C>T r.(?) p.(Arg842*) Parent #2 - pathogenic (recessive) g.101759893G>A g.101107542G>A - - NALCN_000019 - - ClinVar-1201677 rs779930597 Germline yes - - - - DNA SEQ-NG-I - - IHPRF1 - - - - - - - - - - - 1 Marketa Wayhelova
?/. - c.2551C>T r.(?) p.(Arg851Trp) Unknown - VUS g.101759866G>A - NALCN(NM_052867.4):c.2551C>T (p.R851W) - NALCN_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2577C>T r.(?) p.(Asn859=) Unknown - likely benign g.101759840G>A - NALCN(NM_001350748.1):c.2664C>T (p.N888=) - NALCN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2579+1G>A r.spl? p.? Unknown - likely pathogenic g.101759837C>T - NALCN(NM_001350748.1):c.2666+1G>A - NALCN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2637-10T>G r.(=) p.(=) Unknown - benign g.101757011A>C g.101104660A>C NALCN(NM_052867.3):c.2637-10T>G - NALCN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2637-10T>G r.(=) p.(=) Parent #1 - benign g.101757011A>C g.101104660A>C - - NALCN_000012 221 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16958350 Germline - 221/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 221 Mohammed Faruq
-/. - c.2637-10T>G r.(=) p.(=) Both (homozygous) - benign g.101757011A>C g.101104660A>C - - NALCN_000012 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16958350 Germline - 8/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
./. 24 c.2723C>T r.(?) p.(Pro908Leu) Paternal (confirmed) - pathogenic g.101756915G>A g.101104564G>A - - NALCN_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.2890G>A r.(?) p.(Val964Met) Unknown - VUS g.101755690C>T - NALCN(NM_052867.4):c.2890G>A (p.V964M) - NALCN_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2965C>T r.(?) p.(Arg989Trp) Unknown - VUS g.101755615G>A - NALCN(NM_052867.4):c.2965C>T (p.R989W) - NALCN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2966G>A r.(?) p.(Arg989Gln) Unknown - likely pathogenic g.101755614C>T g.101103263C>T NALCN(NM_052867.2):c.2966G>A (p.(Arg989Gln)) - NALCN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3022C>T r.(?) p.(Arg1008Ter) Unknown - likely pathogenic g.101755558G>A g.101103207G>A - - NALCN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3050T>C r.(?) p.(Ile1017Thr) Unknown - pathogenic g.101755530A>G g.101103179A>G - - NALCN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3056dup r.(?) p.(Leu1019Phefs*30) Both (homozygous) - likely pathogenic g.101755530dup g.101103179dup different transcript: NM_052867.3:c.3056dup; p.Leu1019Phefs - NALCN_000054 - PubMed: Nair 2018 - - Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing IHPRF1 ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
+?/. 26 c.3056dup r.(?) p.(Leu1019Phefs*30) Both (homozygous) ACMG likely pathogenic (recessive) g.101755530dup g.101103179dup - - NALCN_000054 both parents were carrier - - - Germline yes - - - - DNA SEQ-NG White blood cells WES followed by Sanger sequencing IHPRF1 IHPRF1_F1 - Family with affected male child M ? Egypt - - - - - 2 Alaaeldin Fayez
+?/. - c.3056dup r.(?) p.(Leu1019Phefs*30) Parent #1 - likely pathogenic (recessive) g.101755530dup g.101103179dup - - NALCN_000054 - - - - Germline - - - - - DNA SEQ-NG - - Healthy/Control father - father affected child - - Egypt - - - - - 1 Alaaeldin Fayez
-?/. - c.3057+43C>A r.(?) p.(=) Parent #2 ACMG benign g.101755480G>T g.101103129G>T - - NALCN_000058 - - - - Germline - - - - - DNA SEQ-NG - - Healthy/Control father - father affected child - - Egypt - - - - - 1 Alaaeldin Fayez
?/. - c.3094G>A r.(?) p.(Ala1032Thr) Unknown - VUS g.101753203C>T - NALCN(NM_052867.4):c.3094G>A (p.(Ala1032Thr)) - chr13_002626 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3163-10T>A r.(=) p.(=) Unknown - likely benign g.101748041A>T - NALCN(NM_052867.4):c.3163-10T>A - NALCN_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3185G>A r.(?) p.(Arg1062Lys) Unknown - VUS g.101748009C>T g.101095658C>T NALCN(NM_052867.2):c.3185G>A (p.(Arg1062Lys)) - NALCN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3270-4G>A r.spl? p.? Unknown - likely benign g.101742321C>T - NALCN(NM_052867.4):c.3270-4G>A - NALCN_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3272C>A r.(?) p.(Ala1091Glu) Unknown - VUS g.101742315G>T - NALCN(NM_052867.4):c.3272C>A (p.(Ala1091Glu)) - NALCN_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3490-8C>A r.(=) p.(=) Unknown - VUS g.101736163G>T g.101083812G>T NALCN(NM_052867.2):c.3490-8C>A (p.(=)) - NALCN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3511G>A r.(?) p.(Asp1171Asn) Unknown - likely pathogenic g.101736134C>T - - - NALCN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3522A>T r.(?) p.(Arg1174Ser) Unknown - likely pathogenic g.101736123T>A g.101083772T>A - - NALCN_000025 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+?/. - c.3522A>T r.(?) p.(Arg1174Ser) Unknown - likely pathogenic (dominant) g.101736123T>A g.101083772T>A - - NALCN_000025 - PubMed: Falb 2023, Journal: Falb 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? DECIPHER-388888/Fam6PatII1 PubMed: Falb 2023, Journal: Falb 2023 family, 1 affected M - Germany - - - - - 1 Johan den Dunnen
+/. - c.3542G>A r.(?) p.(Arg1181Gln) Unknown - pathogenic g.101736103C>T g.101083752C>T NALCN(NM_052867.4):c.3542G>A (p.R1181Q) - NALCN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3542G>A r.(?) p.(Arg1181Gln) Unknown ACMG pathogenic (dominant) g.101736103C>T g.101083752C>T - - NALCN_000009 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - DNA SEQ - - DA D16-1913 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.3542G>T r.(?) p.(Arg1181Leu) Unknown - pathogenic g.101736103C>A - NALCN(NM_052867.4):c.3542G>T (p.R1181L) - NALCN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3553G>A r.(?) p.(Ala1185Thr) Unknown - VUS g.101736092C>T g.101083741C>T NALCN(NM_052867.3):c.3553G>A (p.A1185T) - NALCN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3553G>A r.(?) p.(Ala1185Thr) Unknown - likely pathogenic g.101736092C>T g.101083741C>T NALCN(NM_052867.3):c.3553G>A (p.A1185T) - NALCN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3570T>C r.(=) p.(=) Unknown - benign g.101736075A>G g.101083724A>G - - NALCN_000023 - - - rs686141 Unknown ? 0.73 controls - - - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - - yes none 1 Florian Erger
-/. - c.3570T>C r.(?) p.(Leu1190=) Unknown - benign g.101736075A>G g.101083724A>G - - NALCN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3617T>C r.(?) p.(Ile1206Thr) Unknown - VUS g.101735516A>G - NALCN(NM_052867.4):c.3617T>C (p.(Ile1206Thr)) - NALCN_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3714C>T r.(=) p.(=) Unknown - benign g.101735211G>A g.101082860G>A - - NALCN_000022 - - - rs17677552 Unknown ? 0.37 controls - - - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - - yes none 1 Florian Erger
-/. - c.3714C>T r.(?) p.(Thr1238=) Unknown - benign g.101735211G>A g.101082860G>A - - NALCN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3845C>T r.(?) p.(Ser1282Leu) Unknown - VUS g.101733918G>A - NALCN(NM_052867.4):c.3845C>T (p.S1282L) - NALCN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3846G>T r.(=) p.(=) Unknown - benign g.101733917C>A - NM_052867:c.G3846T (S1282S) - NALCN_000075 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0036 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.3895A>G r.(?) p.(Thr1299Ala) Unknown - VUS g.101728283T>C - NALCN(NM_052867.4):c.3895A>G (p.(Thr1299Ala)) - NALCN_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3910G>A r.(?) p.(Ala1304Thr) Unknown - VUS g.101728268C>T - NALCN(NM_052867.4):c.3910G>A (p.A1304T) - NALCN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3959C>T r.(?) p.(Thr1320Met) Unknown - likely pathogenic g.101727009G>A - - - NALCN_000103 - - - rs2033130135 Unknown - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.