All variants in the NALCN gene

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

115 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
./. 3 c.110G>A r.(?) p.(Trp37*) - pathogenic g.102047715C>T g.101395364C>T - - NALCN_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. - c.127C>T r.(?) p.(Arg43Cys) - VUS g.102047698G>A - NALCN(NM_001350748.2):c.127C>T (p.R43C) - NALCN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.184G>A r.(?) p.(Glu62Lys) - VUS g.102047641C>T - NALCN(NM_052867.2):c.184G>A (p.(Glu62Lys)) - NALCN_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.208G>T r.(?) p.(Val70Leu) - VUS g.102047617C>A - NALCN(NM_052867.4):c.208G>T (p.V70L) - NALCN_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.515+6C>T r.(=) p.(=) - likely benign g.102029262G>A - NALCN(NM_052867.2):c.515+6C>T (p.?) - NALCN_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.892T>A r.(?) p.(Ser298Thr) - VUS g.101944625A>T - - - NALCN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.946G>A r.(?) p.(Val316Met) - likely pathogenic (!) g.101944442C>T - - - NALCN_000057 - - - - De novo - - - - - Alejandro Brea-Fernández
?/. - c.956C>G r.(?) p.(Ala319Gly) - VUS g.101944432G>C g.101292081G>C - - NALCN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 14 c.965T>C r.(?) p.(Ile322Thr) - pathogenic g.101944423A>G g.101292072A>G - - NALCN_000006 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - - - Johan den Dunnen
?/. - c.1078C>T r.(?) p.(Gln360Ter) - VUS g.101936340G>A - NALCN(NM_001350748.1):c.1078C>T (p.Q360*) - NALCN_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1117G>A r.(?) p.(Ala373Thr) - VUS g.101936301C>T - NALCN(NM_052867.4):c.1117G>A (p.(Ala373Thr)) - NALCN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1135-1G>A r.spl? p.? - VUS g.101910926C>T - NALCN(NM_001350748.1):c.1135-1G>A - NALCN_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1162A>G r.(?) p.(Met388Val) - VUS g.101910898T>C - NALCN(NM_052867.4):c.1162A>G (p.M388V) - NALCN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1168A>G r.(?) p.(Ile390Val) - VUS g.101910892T>C - NALCN(NM_052867.2):c.1168A>G (p.(Ile390Val)) - NALCN_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1186G>A r.(?) p.(Val396Met) ACMG VUS g.101910874C>T g.101258523C>T NALCN c.1186G>A p.(Val396Met) het [de novo] - NALCN_000056 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
?/. - c.1198G>A r.(?) p.(Val400Met) - VUS g.101910862C>T g.101258511C>T - - NALCN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1214A>G r.(?) p.(Tyr405Cys) - 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 - - - - - VKGL-NL_Leiden
-?/. - c.1216T>G r.(?) p.(Tyr406Asp) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.1276A>T r.(?) p.(Thr426Ser) - likely benign g.101890264T>A - NALCN(NM_052867.2):c.1276A>T (p.(Thr426Ser)) - NALCN_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1365dup r.(?) p.(Leu456Thrfs*32) - VUS g.101890175dup - NALCN(NM_052867.4):c.1365dup (p.(Leu456Thrfs*32)) - NALCN_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1376T>C r.(?) p.(Ile459Thr) - VUS g.101890164A>G - NALCN(NM_052867.2):c.1376T>C (p.(Ile459Thr)) - NALCN_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1392T>A r.(?) p.(His464Gln) - VUS g.101890148A>T g.101237797A>T - - NALCN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1514A>T r.(?) p.(Lys505Met) - likely pathogenic g.101881856T>A g.101229505T>A 13-101881856-T-A - NALCN_000083 - - - - Germline - - - - - Domenico Coviello
+?/. - c.1514del r.(?) p.(Lys505SerfsTer13) - likely pathogenic g.101881861del g.101229510del NALCN(NM_052867.2):c.1514del (p.(Lys505SerfsTer13)) - NALCN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1526T>C r.(?) p.(Leu509Ser) - pathogenic g.101881844A>G g.101229493A>G - - NALCN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1567A>G r.(?) p.(Ile523Val) - VUS g.101881803T>C - NALCN(NM_052867.4):c.1567A>G (p.I523V) - NALCN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1593C>T r.(=) p.(=) - benign g.101881777G>A g.101229426G>A - - NALCN_000024 - - - rs3916906 Unknown ? 0.36 controls - - - Florian Erger
-/. - c.1593C>T r.(?) p.(Val531=) - benign g.101881777G>A g.101229426G>A - - NALCN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1627-4T>G r.spl? p.? - likely benign g.101844409A>C - NALCN(NM_052867.4):c.1627-4T>G - NALCN_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 14 c.1639A>G r.(?) p.(Met547Val) - pathogenic g.101844393T>C g.101192042T>C - - NALCN_000005 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - - - Johan den Dunnen
?/. - c.1647G>C r.(?) p.(Gln549His) - VUS g.101844385C>G - NALCN(NM_052867.4):c.1647G>C (p.Q549H) - NALCN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1733A>G r.(?) p.(Tyr578Cys) - pathogenic g.101844299T>C - NALCN(NM_052867.4):c.1733A>G (p.Y578C) - NALCN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1745A>G r.(?) p.(Tyr582Cys) ACMG likely pathogenic (dominant) g.101844287T>C g.101191936T>C - - NALCN_000048 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - Gianina Ravenscroft
+/. - c.1764+1G>A r.spl? p.? - pathogenic g.101844267C>T - NALCN(NM_001350748.1):c.1764+1G>A - NALCN_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1784T>C r.(?) p.(Val595Ala) - likely pathogenic g.101828706A>G - NALCN(NM_052867.4):c.1784T>C (p.V595A) - NALCN_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1850G>T r.(?) p.(Ser617Ile) - VUS g.101797237C>A g.101144886C>A - - NALCN_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. 16 c.1894C>T r.(?) p.(Arg632*) - pathogenic g.101797193G>A g.101144842G>A - - NALCN_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 16 c.1894C>T r.(?) p.(Arg632*) - pathogenic g.101797193G>A g.101144842G>A - - NALCN_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 16 c.1894C>T r.(?) p.(Arg632*) - pathogenic g.101797193G>A g.101144842G>A - - NALCN_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 16 c.1894C>T r.(?) p.(Arg632*) - pathogenic g.101797193G>A g.101144842G>A - - NALCN_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
-/. - c.2118+9T>C r.(=) p.(=) - benign g.101795422A>G g.101143071A>G - - NALCN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2119-7781A>G r.(=) p.(=) - likely benign g.101784813T>C - NALCN(NM_052867.4):c.2119-7781A>G - NALCN_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2119-4dup r.spl? p.? - likely benign g.101777039dup - NALCN(NM_052867.4):c.2119-4dup - NALCN_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2122C>T r.(?) p.(Arg708Cys) - VUS g.101777029G>A - NALCN(NM_052867.4):c.2122C>T (p.(Arg708Cys)) - NALCN_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2173G>A r.(?) p.(Ala725Thr) - VUS g.101776978C>T - NALCN(NM_052867.4):c.2173G>A (p.(Ala725Thr)) - NALCN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.2203C>T r.(?) p.(Arg735Ter) - pathogenic g.101763567G>A g.101111216G>A - - NALCN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2203C>T r.(?) p.(Arg735*) ACMG likely pathogenic (recessive) g.101763567G>A g.101111216G>A - - NALCN_000020 - PubMed: Helbig 2016 - - Germline - - - - - Johan den Dunnen
-/. - c.2241C>T r.(?) p.(Pro747=) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.2242G>A r.(?) p.(Ala748Thr) - VUS g.101763528C>T - NALCN(NM_052867.4):c.2242G>A (p.(Ala748Thr)) - NALCN_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2281C>T r.(?) p.(Arg761Cys) - likely benign g.101763489G>A - NALCN(NM_052867.2):c.2281C>T (p.(Arg761Cys)) - NALCN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2305C>T r.(?) p.(His769Tyr) - 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 - - - Mohammed Faruq
?/. - c.2307T>G r.(?) p.(His769Gln) - VUS g.101763027A>C - NALCN(NM_052867.4):c.2307T>G (p.H769Q) - NALCN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.2457-1G>A r.spl? p.? - pathogenic g.101759961C>T g.101107610C>T NALCN(NM_052867.4):c.2457-1G>A - NALCN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.2524C>T r.(?) p.(Arg842Ter) - pathogenic g.101759893G>A g.101107542G>A - - NALCN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.2524C>T r.(?) p.(Arg842*) - pathogenic (recessive) g.101759893G>A g.101107542G>A - - NALCN_000019 - - ClinVar-1201677 rs779930597 Germline yes - - - - Marketa Wayhelova
?/. - c.2551C>T r.(?) p.(Arg851Trp) - VUS g.101759866G>A - NALCN(NM_052867.4):c.2551C>T (p.R851W) - NALCN_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2577C>T r.(?) p.(Asn859=) - likely benign g.101759840G>A - NALCN(NM_001350748.1):c.2664C>T (p.N888=) - NALCN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.2579+1G>A r.spl? p.? - likely pathogenic g.101759837C>T - NALCN(NM_001350748.1):c.2666+1G>A - NALCN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2637-10T>G r.(=) p.(=) - benign g.101757011A>C g.101104660A>C NALCN(NM_052867.3):c.2637-10T>G - NALCN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2637-10T>G r.(=) p.(=) - benign g.101757011A>C g.101104660A>C - - NALCN_000012 221 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16958350 Germline - 221/2795 individuals - - - Mohammed Faruq
-/. - c.2637-10T>G r.(=) p.(=) - benign g.101757011A>C g.101104660A>C - - NALCN_000012 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16958350 Germline - 8/2795 individuals - - - Mohammed Faruq
./. 24 c.2723C>T r.(?) p.(Pro908Leu) - pathogenic g.101756915G>A g.101104564G>A - - NALCN_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. - c.2890G>A r.(?) p.(Val964Met) - VUS g.101755690C>T - NALCN(NM_052867.4):c.2890G>A (p.V964M) - NALCN_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.2965C>T r.(?) p.(Arg989Trp) - VUS g.101755615G>A - NALCN(NM_052867.4):c.2965C>T (p.R989W) - NALCN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.2966G>A r.(?) p.(Arg989Gln) - 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 - - - - - VKGL-NL_Leiden
+?/. - c.3022C>T r.(?) p.(Arg1008Ter) - likely pathogenic g.101755558G>A g.101103207G>A - - NALCN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3050T>C r.(?) p.(Ile1017Thr) - pathogenic g.101755530A>G g.101103179A>G - - NALCN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.3056dup r.(?) p.(Leu1019Phefs*30) - likely pathogenic g.101755530dup g.101103179dup different transcript: NM_052867.3:c.3056dup; p.Leu1019Phefs - NALCN_000054 - PubMed: Nair 2018 - - Unknown ? - - - - LOVD
+?/. 26 c.3056dup r.(?) p.(Leu1019Phefs*30) ACMG likely pathogenic (recessive) g.101755530dup g.101103179dup - - NALCN_000054 both parents were carrier - - - Germline yes - - - - Alaaeldin Fayez
+?/. - c.3056dup r.(?) p.(Leu1019Phefs*30) - likely pathogenic (recessive) g.101755530dup g.101103179dup - - NALCN_000054 - - - - Germline - - - - - Alaaeldin Fayez
-?/. - c.3057+43C>A r.(?) p.(=) ACMG benign g.101755480G>T g.101103129G>T - - NALCN_000058 - - - - Germline - - - - - Alaaeldin Fayez
-?/. - c.3163-10T>A r.(=) p.(=) - likely benign g.101748041A>T - NALCN(NM_052867.4):c.3163-10T>A - NALCN_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3185G>A r.(?) p.(Arg1062Lys) - 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 - - - - - VKGL-NL_Leiden
-?/. - c.3270-4G>A r.spl? p.? - likely benign g.101742321C>T - NALCN(NM_052867.4):c.3270-4G>A - NALCN_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3272C>A r.(?) p.(Ala1091Glu) - VUS g.101742315G>T - NALCN(NM_052867.4):c.3272C>A (p.(Ala1091Glu)) - NALCN_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3490-8C>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
+?/. - c.3511G>A r.(?) p.(Asp1171Asn) - likely pathogenic g.101736134C>T - - - NALCN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.3522A>T r.(?) p.(Arg1174Ser) - likely pathogenic g.101736123T>A g.101083772T>A - - NALCN_000025 - - - - Unknown - - - - - IMGAG
+?/. - c.3522A>T r.(?) p.(Arg1174Ser) - likely pathogenic (dominant) g.101736123T>A g.101083772T>A - - NALCN_000025 - PubMed: Falb 2023, Journal: Falb 2023 - - De novo - - - - - Johan den Dunnen
+/. - c.3542G>A r.(?) p.(Arg1181Gln) - 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 - - - - - VKGL-NL_Groningen
+/. - c.3542G>A r.(?) p.(Arg1181Gln) ACMG pathogenic (dominant) g.101736103C>T g.101083752C>T - - NALCN_000009 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - De novo - - - - - Gianina Ravenscroft
+/. - c.3542G>T r.(?) p.(Arg1181Leu) - pathogenic g.101736103C>A - NALCN(NM_052867.4):c.3542G>T (p.R1181L) - NALCN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3553G>A r.(?) p.(Ala1185Thr) - 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 - - - - - VKGL-NL_Rotterdam
+?/. - c.3553G>A r.(?) p.(Ala1185Thr) - 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 - - - - - VKGL-NL_Nijmegen
-/. - c.3570T>C r.(=) p.(=) - benign g.101736075A>G g.101083724A>G - - NALCN_000023 - - - rs686141 Unknown ? 0.73 controls - - - Florian Erger
-/. - c.3570T>C r.(?) p.(Leu1190=) - benign g.101736075A>G g.101083724A>G - - NALCN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3617T>C r.(?) p.(Ile1206Thr) - VUS g.101735516A>G - NALCN(NM_052867.4):c.3617T>C (p.(Ile1206Thr)) - NALCN_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3714C>T r.(=) p.(=) - benign g.101735211G>A g.101082860G>A - - NALCN_000022 - - - rs17677552 Unknown ? 0.37 controls - - - Florian Erger
-/. - c.3714C>T r.(?) p.(Thr1238=) - benign g.101735211G>A g.101082860G>A - - NALCN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3845C>T r.(?) p.(Ser1282Leu) - VUS g.101733918G>A - NALCN(NM_052867.4):c.3845C>T (p.S1282L) - NALCN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.3846G>T r.(=) p.(=) - benign g.101733917C>A - NM_052867:c.G3846T (S1282S) - NALCN_000075 - PubMed: Hamdan 2017 - - De novo - - - - - Johan den Dunnen
?/. - c.3895A>G r.(?) p.(Thr1299Ala) - VUS g.101728283T>C - NALCN(NM_052867.4):c.3895A>G (p.(Thr1299Ala)) - NALCN_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3910G>A r.(?) p.(Ala1304Thr) - VUS g.101728268C>T - NALCN(NM_052867.4):c.3910G>A (p.A1304T) - NALCN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.3959C>T r.(?) p.(Thr1320Met) - likely pathogenic g.101727009G>A - - - NALCN_000103 - - - rs2033130135 Unknown - - - - - MobiDetails
?/. - c.4000A>G r.(?) p.(Lys1334Glu) - VUS g.101726968T>C - NALCN(NM_001350748.1):c.4087A>G (p.K1363E) - NALCN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.4073G>A r.(?) p.(Gly1358Asp) ACMG pathogenic (recessive) g.101726895C>T g.101074544C>T - - NALCN_000071 compound heterozygosity with rs779930597 - ClinVar-3383971 - Germline yes - - - - Marketa Wayhelova
-?/. - c.4103+4G>C r.spl? p.? - likely benign g.101726861C>G - NALCN(NM_052867.4):c.4103+4G>C - NALCN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
./. 37 c.4150C>T r.(?) p.(Arg1384*) - pathogenic g.101725983G>A g.101073631G>A - - NALCN_000004 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 37 c.4150C>T r.(?) p.(Arg1384*) - pathogenic g.101725983G>A g.101073631G>A - - NALCN_000004 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
./. 37 c.4150C>T r.(?) p.(Arg1384*) - pathogenic g.101725983G>A g.101073631G>A - - NALCN_000004 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
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