Full data view for gene TRPM4

Information The variants shown are described using the NM_017636.3 transcript reference sequence.

247 entries on 3 pages. Showing entries 1 - 100.
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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.-3521G>A r.(?) p.(=) Unknown - VUS g.49657603G>A g.49154346G>A HRC(NM_002152.2):c.892C>T (p.(Arg298Ter)) - HRC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3505G>T r.(?) p.(=) Unknown - VUS g.49657619G>T g.49154362G>T HRC(NM_002152.2):c.876C>A (p.(Asp292Glu)) - HRC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3385_-3371del r.(?) p.(=) Unknown - VUS g.49657739_49657753del g.49154482_49154496del HRC(NM_002152.2):c.770_784del (p.(Asp257_Asp261del)) - HRC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3382_-3371del r.(?) p.(=) Unknown - VUS g.49657742_49657753del g.49154485_49154496del HRC(NM_002152.2):c.773_784del (p.(Asp258_Asp261del)) - HRC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3373_-3371del r.(?) p.(=) Unknown - VUS g.49657751_49657753del g.49154494_49154496del HRC(NM_002152.2):c.779_781del (p.(Asp261del)), HRC(NM_002152.3):c.782_784delATG (p.D261del) - HRC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3373_-3371del r.(?) p.(=) Unknown - benign g.49657751_49657753del - HRC(NM_002152.2):c.779_781del (p.(Asp261del)), HRC(NM_002152.3):c.782_784delATG (p.D261del) - HRC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3373_-3371dup r.(?) p.(=) Unknown - VUS g.49657751_49657753dup g.49154494_49154496dup HRC(NM_002152.2):c.782_784dup (p.(Asp261dup)) - HRC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3370G>T r.(?) p.(=) Unknown - VUS g.49657754G>T g.49154497G>T HRC(NM_002152.2):c.741C>A (p.(Asp247Glu)) - HRC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3367A>T r.(?) p.(=) Unknown - VUS g.49657757A>T g.49154500A>T HRC(NM_002152.2):c.738T>A (p.(Asp246Glu)) - HRC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3359C>T r.(?) p.(=) Unknown - VUS g.49657765C>T g.49154508C>T HRC(NM_002152.2):c.730G>A (p.(Glu244Lys)) - HRC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3351T>C r.(?) p.(=) Unknown - VUS g.49657773T>C g.49154516T>C HRC(NM_002152.2):c.722A>G (p.(Gln241Arg)) - HRC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3332C>T r.(?) p.(=) Unknown - VUS g.49657792C>T g.49154535C>T HRC(NM_002152.2):c.703G>A (p.(Gly235Ser)) - HRC_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3318C>T r.(?) p.(=) Unknown - VUS g.49657806C>T g.49154549C>T HRC(NM_002152.2):c.689G>A (p.(Gly230Glu)) - HRC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3140T>C r.(?) p.(=) Unknown - VUS g.49657984T>C - HRC(NM_002152.3):c.511A>G (p.S171G) - HRC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-12G>A r.(?) p.(=) Unknown - benign g.49661112G>A g.49157855G>A TRPM4(NM_017636.4):c.-12G>A - TRPM4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-12G>A r.(?) p.(=) Unknown - benign g.49661112G>A g.49157855G>A TRPM4(NM_017636.4):c.-12G>A - TRPM4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2T>C r.(?) p.(Met1?) Unknown - VUS g.49661125T>C - TRPM4(NM_017636.3):c.2T>C (p.M1?) - HRC_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.19G>A r.(?) p.(Glu7Lys) Parent #1 - pathogenic g.49661142G>A g.49157885G>A - - TRPM4_000001 not in 460 Afrikaner control chromosomes, not in 778 European control chromosomes; variant from founder Portugal PubMed: Kruse et al 2009, OMIM:var0001 - - Germline - - MboII+ - - DNA SEQ - - PFHB1B - PubMed: Brink et al 1977 extensive family, 23 affeteds/35 unaffecteds analysed - - South Africa Afrikaner - - - - 23 LOVD
+/? 1 c.19G>A r.(?) p.(Glu7Lys) Unknown - NA g.49661142G>A g.49157885G>A - - TRPM4_000001 expression cloning HEK293/CHO cells; increased current density, elevated steady state TRPM4 protein level PubMed: Kruse et al 2009, OMIM:var0001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.24+6C>G r.(=) p.(=) Unknown - likely benign g.49661153C>G g.49157896C>G TRPM4(NM_017636.4):c.24+6C>G - TRPM4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.24+6C>G r.(=) p.(=) Unknown - likely benign g.49661153C>G g.49157896C>G TRPM4(NM_017636.4):c.24+6C>G - TRPM4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.24+8C>A r.(=) p.(=) Unknown - likely benign g.49661155C>A - TRPM4(NM_017636.4):c.24+8C>A - HRC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.92+12G>A r.(=) p.(=) Unknown - benign g.49661528G>A g.49158271G>A TRPM4(NM_017636.4):c.92+12G>A - TRPM4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.243G>C r.(?) p.(Thr81=) Unknown - benign g.49669448G>C g.49166191G>C TRPM4(NM_017636.4):c.243G>C (p.T81=) - TRPM4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.247dup r.(?) p.(Ala83Glyfs*13) Unknown - VUS g.49669452dup g.49166195dup - - TRPM4_000018 - PubMed: Neubauer 2017, Journal: Neubauer 2017 - - Germline ? - - - - DNA SEQ-NG-I - - SIDS SIDS119 PubMed: Neubauer 2017 Journal: Neubauer 2017 - F ? Switzerland Europe 00y01m - - - 1 Cordula Haas
-/. - c.267+14C>G r.(=) p.(=) Unknown - benign g.49669486C>G g.49166229C>G TRPM4(NM_017636.4):c.267+14C>G - TRPM4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267+14C>G r.(=) p.(=) Unknown - benign g.49669486C>G g.49166229C>G TRPM4(NM_017636.4):c.267+14C>G - TRPM4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.301G>A r.(?) p.(Ala101Thr) Unknown - benign g.49671207G>A g.49167950G>A TRPM4(NM_017636.3):c.301G>A (p.(Ala101Thr)), TRPM4(NM_017636.4):c.301G>A (p.A101T) - TRPM4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.301G>A r.(?) p.(Ala101Thr) Unknown - benign g.49671207G>A g.49167950G>A TRPM4(NM_017636.3):c.301G>A (p.(Ala101Thr)), TRPM4(NM_017636.4):c.301G>A (p.A101T) - TRPM4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.301G>A r.(?) p.(Ala101Thr) Parent #1 - benign g.49671207G>A g.49167950G>A - - TRPM4_000030 235 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113984787 Germline - 235/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 235 Mohammed Faruq
-?/. - c.301G>A r.(?) p.(Ala101Thr) Unknown - likely benign g.49671207G>A - TRPM4(NM_017636.3):c.301G>A (p.(Ala101Thr)), TRPM4(NM_017636.4):c.301G>A (p.A101T) - TRPM4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.306T>G r.(?) p.(Val102=) Unknown - benign g.49671212T>G g.49167955T>G TRPM4(NM_017636.4):c.306T>G (p.V102=) - TRPM4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.306T>G r.(?) p.(Val102=) Unknown - benign g.49671212T>G g.49167955T>G TRPM4(NM_017636.4):c.306T>G (p.V102=) - TRPM4_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.308A>G r.(?) p.(Tyr103Cys) Unknown - VUS g.49671214A>G - TRPM4(NM_017636.3):c.308A>G (p.Y103C), TRPM4(NM_017636.4):c.308A>G (p.Y103C) - TRPM4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.308A>G r.(?) p.(Tyr103Cys) Unknown - likely benign g.49671214A>G - TRPM4(NM_017636.3):c.308A>G (p.Y103C), TRPM4(NM_017636.4):c.308A>G (p.Y103C) - TRPM4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.308A>G r.(?) p.(Tyr103Cys) Unknown - likely benign g.49671214A>G - TRPM4(NM_017636.3):c.308A>G (p.Y103C), TRPM4(NM_017636.4):c.308A>G (p.Y103C) - TRPM4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.322C>T r.(?) p.(Arg108Cys) Unknown - benign g.49671228C>T g.49167971C>T TRPM4(NM_017636.4):c.322C>T (p.R108C) - TRPM4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.344C>T r.(?) p.(Pro115Leu) Unknown - VUS g.49671250C>T - TRPM4(NM_017636.4):c.344C>T (p.P115L) - TRPM4_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.354G>C r.(?) p.(Val118=) Unknown - benign g.49671260G>C g.49168003G>C TRPM4(NM_017636.4):c.354G>C (p.V118=) - TRPM4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.354G>C r.(?) p.(Val118=) Unknown - benign g.49671260G>C - TRPM4(NM_017636.4):c.354G>C (p.V118=) - TRPM4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.375G>A r.(?) p.(Ser125=) Unknown - benign g.49671281G>A g.49168024G>A TRPM4(NM_017636.4):c.375G>A (p.S125=) - TRPM4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.375G>A r.(?) p.(Ser125=) Unknown - benign g.49671281G>A g.49168024G>A TRPM4(NM_017636.4):c.375G>A (p.S125=) - TRPM4_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 4 c.393G>C r.(?) p.(Gln131His) Parent #1 - likely pathogenic g.49671299G>C g.49168042G>C - - TRPM4_000009 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - Cambodia - - - - - 1 Birgit Stallmeyer
?/. - c.416G>A r.(?) p.(Arg139His) Unknown - VUS g.49671322G>A g.49168065G>A TRPM4(NM_017636.4):c.416G>A (p.R139H) - TRPM4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.448+6C>T r.(=) p.(=) Unknown - benign g.49671360C>T g.49168103C>T TRPM4(NM_017636.4):c.448+6C>T - TRPM4_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.449-14C>T r.(=) p.(=) Unknown - benign g.49671503C>T g.49168246C>T TRPM4(NM_017636.4):c.449-14C>T - TRPM4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.449-10G>A r.(=) p.(=) Unknown - benign g.49671507G>A g.49168250G>A TRPM4(NM_017636.4):c.449-10G>A - TRPM4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.449-10G>A r.(=) p.(=) Unknown - benign g.49671507G>A g.49168250G>A TRPM4(NM_017636.4):c.449-10G>A - TRPM4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.449-10G>A r.(=) p.(=) Parent #1 - likely benign g.49671507G>A g.49168250G>A - - TRPM4_000034 215 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs78444754 Germline - 215/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 215 Mohammed Faruq
-?/. - c.449-10G>A r.(=) p.(=) Both (homozygous) - likely benign g.49671507G>A g.49168250G>A - - TRPM4_000034 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs78444754 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.449-10G>A r.(=) p.(=) Unknown - likely benign g.49671507G>A - TRPM4(NM_017636.4):c.449-10G>A - TRPM4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.460G>T r.(?) p.(Val154Phe) Unknown - VUS g.49671528G>T - TRPM4(NM_017636.4):c.460G>T (p.V154F) - TRPM4_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477C>G r.(?) p.(His159Gln) Unknown - likely benign g.49671545C>G - - - TRPM4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.490C>T r.(?) p.(Arg164Trp) Parent #1 - pathogenic g.49671558C>T g.49168301C>T - - TRPM4_000002 mapped by linkage PubMed: Liu et al 2010 - - Germline - - - - - DNA SEQ - - ? - PubMed: Liu et al 2010 4-generation family (12 carriers, 7 non-carriers) - - France - - - - - 12 LOVD
?/. - c.512G>A r.(?) p.(Arg171Gln) Unknown - VUS g.49671580G>A g.49168323G>A TRPM4(NM_017636.4):c.512G>A (p.R171Q) - TRPM4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.516C>T r.(?) p.(Asp172=) Unknown - likely benign g.49671584C>T g.49168327C>T TRPM4(NM_017636.3):c.516C>T (p.D172=) - TRPM4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.613-39C>T r.(=) p.(=) Unknown - benign g.49671771C>T g.49168514C>T - - TRPM4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.618G>A r.(?) p.(Ser206=) Unknown - benign g.49671815G>A g.49168558G>A TRPM4(NM_017636.4):c.618G>A (p.S206=) - TRPM4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.618G>A r.(?) p.(Ser206=) Unknown - benign g.49671815G>A - TRPM4(NM_017636.4):c.618G>A (p.S206=) - TRPM4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635G>A r.(?) p.(Arg212Gln) Unknown - VUS g.49671832G>A g.49168575G>A TRPM4(NM_017636.4):c.635G>A (p.R212Q) - TRPM4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.711C>T r.(?) p.(Asp237=) Unknown - benign g.49671908C>T g.49168651C>T TRPM4(NM_017636.4):c.711C>T (p.D237=) - TRPM4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.748C>T r.(?) p.(Arg250Cys) Unknown - likely benign g.49671945C>T g.49168688C>T TRPM4(NM_017636.4):c.748C>T (p.R250C) - TRPM4_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.749G>A r.(?) p.(Arg250His) Unknown - VUS g.49671946G>A g.49168689G>A - - TRPM4_000019 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 90 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - - - - - 1 Ellika Sahlin
-?/. - c.749G>A r.(?) p.(Arg250His) Unknown - likely benign g.49671946G>A - TRPM4(NM_017636.4):c.749G>A (p.(Arg250His)) - TRPM4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.755G>A r.(?) p.(Arg252His) Unknown - benign g.49671952G>A g.49168695G>A TRPM4(NM_017636.4):c.755G>A (p.R252H) - TRPM4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.783G>A r.(?) p.(Lys261=) Unknown - benign g.49671980G>A g.49168723G>A TRPM4(NM_017636.4):c.783G>A (p.K261=) - TRPM4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.797-13C>A r.(=) p.(=) Unknown - benign g.49674601C>A g.49171344C>A TRPM4(NM_017636.4):c.797-13C>A - TRPM4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.870C>T r.(?) p.(Asn290=) Unknown - benign g.49674846C>T g.49171589C>T TRPM4(NM_017636.4):c.870C>T (p.N290=) - TRPM4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.870C>T r.(?) p.(Asn290=) Unknown - benign g.49674846C>T g.49171589C>T TRPM4(NM_017636.4):c.870C>T (p.N290=) - TRPM4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 8 c.878A>G r.(?) p.(Gln293Arg) Parent #1 - likely pathogenic g.49674854A>G g.49171597A>G - - TRPM4_000010 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - Viet Nam - - - - - 1 Birgit Stallmeyer
-?/. - c.924G>A r.(?) p.(Ala308=) Unknown - likely benign g.49674900G>A g.49171643G>A - - TRPM4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.956_958del r.(?) p.(Leu319_Ala320delinsPro) Unknown - VUS g.49674932_49674934del g.49171675_49171677del TRPM4(NM_017636.4):c.956_958delTGG (p.L319_A320del) - TRPM4_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.995G>A r.(?) p.(Arg332Gln) Unknown - VUS g.49674971G>A - TRPM4(NM_017636.4):c.995G>A (p.R332Q) - TRPM4_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1009C>T r.(?) p.(Arg337Cys) Unknown - VUS g.49674985C>T - TRPM4(NM_017636.4):c.1009C>T (p.(Arg337Cys)) - TRPM4_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1041G>T r.(?) p.(Leu347=) Unknown - benign g.49675017G>T g.49171760G>T TRPM4(NM_017636.4):c.1041G>T (p.L347=, p.(Leu347=)) - TRPM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1041G>T r.(?) p.(Leu347=) Unknown - benign g.49675017G>T g.49171760G>T TRPM4(NM_017636.4):c.1041G>T (p.L347=, p.(Leu347=)) - TRPM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1041G>T r.(?) p.(Leu347=) Unknown - likely benign g.49675017G>T - TRPM4(NM_017636.4):c.1041G>T (p.L347=, p.(Leu347=)) - TRPM4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1050+9dup r.(=) p.(=) Unknown - benign g.49675035dup g.49171778dup TRPM4(NM_017636.4):c.1050+9dupC - TRPM4_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1050+10T>G r.(=) p.(=) Unknown - benign g.49675036T>G g.49171779T>G TRPM4(NM_017636.4):c.1050+10T>G - TRPM4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1050+13_1050+16dup r.(=) p.(=) Unknown - benign g.49675039_49675042dup g.49171782_49171785dup TRPM4(NM_017636.4):c.1050+13_1050+16dupGGGC - TRPM4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1050+13_1050+16dup r.(=) p.(=) Unknown - benign g.49675039_49675042dup g.49171782_49171785dup TRPM4(NM_017636.4):c.1050+13_1050+16dupGGGC - TRPM4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1051-33C>T r.(=) p.(=) Unknown - benign g.49675233C>T g.49171976C>T - - TRPM4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1051G>A r.(?) p.(Val351Met) Unknown - VUS g.49675266G>A g.49172009G>A - - TRPM4_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1070G>A r.(?) p.(Arg357Gln) Unknown - VUS g.49675285G>A - TRPM4(NM_017636.4):c.1070G>A (p.R357Q) - TRPM4_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1119C>A r.(?) p.(Phe373Leu) Unknown - likely benign g.49675334C>A - TRPM4(NM_017636.4):c.1119C>A (p.F373L) - TRPM4_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150+1G>A r.spl? p.? Unknown - VUS g.49675366G>A g.49172109G>A TRPM4(NM_001195227.1):c.1150+1G>A (p.?) - TRPM4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1151-23C>T r.(=) p.(=) Unknown - benign g.49684583C>T g.49181326C>T - - TRPM4_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1151-20T>A r.(=) p.(=) Unknown - benign g.49684586T>A g.49181329T>A TRPM4(NM_017636.4):c.1151-20T>A - TRPM4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1151-20T>A r.(=) p.(=) Unknown - benign g.49684586T>A g.49181329T>A TRPM4(NM_017636.4):c.1151-20T>A - TRPM4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1160G>A r.(?) p.(Ser387Asn) Unknown - likely benign g.49684615G>A g.49181358G>A - - TRPM4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1164G>A r.(?) p.(Ser388=) Unknown - benign g.49684619G>A g.49181362G>A TRPM4(NM_017636.4):c.1164G>A (p.S388=) - TRPM4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1195_1202del r.(?) p.(Leu399Glyfs*11) Unknown - pathogenic g.49684650_49684657del g.49181393_49181400del - - TRPM4_000020 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 104 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - - - - - 1 Ellika Sahlin
-/. - c.1215C>T r.(?) p.(Arg405=) Unknown - benign g.49684670C>T g.49181413C>T TRPM4(NM_017636.4):c.1215C>T (p.R405=) - TRPM4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1231A>G r.(?) p.(Ser411Gly) Unknown - VUS g.49684686A>G g.49181429A>G - - TRPM4_000021 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline - - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 26 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - - - - - 1 Ellika Sahlin
-/. - c.1242T>C r.(?) p.(Phe414=) Unknown - benign g.49684697T>C g.49181440T>C TRPM4(NM_017636.3):c.1242T>C (p.F414=), TRPM4(NM_017636.4):c.1242T>C (p.F414=) - TRPM4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1242T>C r.(?) p.(Phe414=) Unknown - likely benign g.49684697T>C - TRPM4(NM_017636.3):c.1242T>C (p.F414=), TRPM4(NM_017636.4):c.1242T>C (p.F414=) - TRPM4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1263+9T>C r.(=) p.(=) Unknown - benign g.49684727T>C g.49181470T>C TRPM4(NM_017636.4):c.1263+9T>C - TRPM4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1294G>A r.(?) p.(Ala432Thr) Unknown - likely pathogenic g.49685865G>A g.49182608G>A - - TRPM4_000003 - PubMed: Hertz 2015, Journal: Hertz 2015 - - Germline - - - - - DNA SEQ-NG-I Blood - SIDS - PubMed: Hertz 2015, Journal: Hertz 2015 - F ? Denmark Denmark 00y00m - - - 1 Christin Hertz
?/. - c.1294G>A r.(?) p.(Ala432Thr) Unknown - VUS g.49685865G>A g.49182608G>A TRPM4(NM_001195227.1):c.1294G>A (p.(Ala432Thr)), TRPM4(NM_017636.3):c.1294G>A (p.A432T), TRPM4(NM_017636.4):c.1294G>A (p.A432T) - TRPM4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1294G>A r.(?) p.(Ala432Thr) Unknown - VUS g.49685865G>A g.49182608G>A TRPM4(NM_001195227.1):c.1294G>A (p.(Ala432Thr)), TRPM4(NM_017636.3):c.1294G>A (p.A432T), TRPM4(NM_017636.4):c.1294G>A (p.A432T) - TRPM4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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