Full data view for gene MYLK2

Information The variants shown are described using the NM_033118.3 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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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.4G>A r.(?) p.(Ala2Thr) Unknown - likely benign g.30407387G>A g.31819584G>A MYLK2(NM_033118.3):c.4G>A (p.A2T) - MYLK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4G>A r.(?) p.(Ala2Thr) Unknown - likely benign g.30407387G>A g.31819584G>A MYLK2(NM_033118.3):c.4G>A (p.A2T) - MYLK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4G>A r.(?) p.(Ala2Thr) Parent #1 - VUS g.30407387G>A g.31819584G>A - - MYLK2_000004 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117502839 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.15T>G r.(?) p.(Asn5Lys) Unknown - VUS g.30407398T>G g.31819595T>G MYLK2(NM_033118.3):c.15T>G (p.N5K) - MYLK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.21A>G r.(?) p.(Ala7=) Unknown - likely benign g.30407404A>G g.31819601A>G MYLK2(NM_033118.3):c.21A>G (p.A7=) - MYLK2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.51A>G r.(?) p.(Thr17=) Unknown - VUS g.30407434A>G g.31819631A>G MYLK2(NM_033118.3):c.51A>G (p.T17=) - MYLK2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70C>T r.(?) p.(Pro24Ser) Unknown - likely benign g.30407946C>T g.31820143C>T MYLK2(NM_033118.3):c.70C>T (p.P24S) - MYLK2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.102A>G r.(?) p.(Lys34=) Unknown - likely benign g.30407978A>G g.31820175A>G MYLK2(NM_033118.3):c.102A>G (p.K34=) - MYLK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.173C>A r.(?) p.(Ala58Asp) Unknown - likely benign g.30408049C>A g.31820246C>A MYLK2(NM_033118.3):c.173C>A (p.A58D) - MYLK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.173C>A r.(?) p.(Ala58Asp) Unknown - likely benign g.30408049C>A g.31820246C>A MYLK2(NM_033118.3):c.173C>A (p.A58D) - MYLK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.191G>C r.(?) p.(Gly64Ala) Unknown - likely benign g.30408067G>C g.31820264G>C MYLK2(NM_033118.3):c.191G>C (p.G64A) - MYLK2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.244_245del r.(?) p.(Arg82GlyfsTer23) Unknown - VUS g.30408120_30408121del g.31820317_31820318del MYLK2(NM_033118.3):c.244_245delAG (p.R82Gfs*23) - MYLK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.260C>T r.(?) p.(Ala87Val) Unknown - likely benign g.30408136C>T g.31820333C>T MYLK2(NM_033118.3):c.260C>T (p.A87V) - MYLK2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.266G>A r.(?) p.(Gly89Asp) Unknown - benign g.30408142G>A g.31820339G>A MYLK2(NM_033118.3):c.266G>A (p.G89D) - MYLK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.277C>A r.(?) p.(Pro93Thr) Unknown - VUS g.30408153C>A g.31820350C>A - - MYLK2_000063 - PubMed: Walsh 2017 - - Germline - 1/121 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.284C>A r.(?) p.(Ala95Glu) Unknown - likely benign g.30408160C>A g.31820357C>A MYLK2(NM_033118.3):c.284C>A (p.A95E) - MYLK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.284C>A r.(?) p.(Ala95Glu) Unknown - likely benign g.30408160C>A g.31820357C>A MYLK2(NM_033118.3):c.284C>A (p.A95E) - MYLK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.284C>A r.(?) p.(Ala95Glu) Unknown - likely benign g.30408160C>A g.31820357C>A MYLK2(NM_033118.3):c.284C>A (p.A95E) - MYLK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.284C>A r.(?) p.(Ala95Glu) Parent #1 - likely benign g.30408160C>A g.31820357C>A - - MYLK2_000010 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908108 Germline - 4/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
-?/. - c.331C>T r.(?) p.(Pro111Ser) Unknown - likely benign g.30408207C>T g.31820404C>T MYLK2(NM_033118.3):c.331C>T (p.P111S) - MYLK2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>T r.(?) p.(Ala139=) Unknown - likely benign g.30408293C>T g.31820490C>T MYLK2(NM_033118.3):c.417C>T (p.A139=) - MYLK2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>T r.(?) p.(Ala139=) Unknown - likely benign g.30408293C>T g.31820490C>T MYLK2(NM_033118.3):c.417C>T (p.A139=) - MYLK2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>T r.(?) p.(Ala139=) Unknown - likely benign g.30408293C>T g.31820490C>T MYLK2(NM_033118.3):c.417C>T (p.A139=) - MYLK2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.425G>T r.(?) p.(Gly142Val) Unknown - likely benign g.30408301G>T g.31820498G>T MYLK2(NM_033118.3):c.425G>T (p.G142V) - MYLK2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.430C>G r.(?) p.(Pro144Ala) Unknown - benign g.30408306C>G g.31820503C>G MYLK2(NM_033118.3):c.430C>G (p.P144A) - MYLK2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.430C>G r.(?) p.(Pro144Ala) Unknown - benign g.30408306C>G g.31820503C>G MYLK2(NM_033118.3):c.430C>G (p.P144A) - MYLK2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.443A>G r.(?) p.(His148Arg) Unknown - VUS g.30408319A>G g.31820516A>G - - MYLK2_000001 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 153 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - 0 - - - 1 Ellika Sahlin
-?/. - c.463A>T r.(?) p.(Ile155Phe) Unknown - likely benign g.30408339A>T g.31820536A>T MYLK2(NM_033118.3):c.463A>T (p.I155F) - MYLK2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.463A>T r.(?) p.(Ile155Phe) Unknown - VUS g.30408339A>T g.31820536A>T MYLK2(NM_033118.3):c.463A>T (p.I155F) - MYLK2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.508G>A r.(?) p.(Glu170Lys) Unknown - likely benign g.30409276G>A g.31821473G>A MYLK2(NM_033118.3):c.508G>A (p.E170K) - MYLK2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.508G>A r.(?) p.(Glu170Lys) Unknown - likely benign g.30409276G>A - MYLK2(NM_033118.3):c.508G>A (p.E170K) - MYLK2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.633C>T r.(?) p.(Thr211=) Unknown - likely benign g.30409401C>T g.31821598C>T MYLK2(NM_033118.3):c.633C>T (p.T211=) - MYLK2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.684T>C r.(?) p.(Ile228=) Unknown - benign g.30409452T>C g.31821649T>C MYLK2(NM_033118.3):c.684T>C (p.I228=) - MYLK2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.694del r.(?) p.(Ala232LeufsTer43) Unknown - VUS g.30409462del g.31821659del MYLK2(NM_033118.3):c.694delG (p.A232Lfs*43) - MYLK2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.715G>A r.(?) p.(Glu239Lys) Unknown - VUS g.30409483G>A g.31821680G>A - - MYLK2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.772+14A>T r.(=) p.(=) Unknown - likely benign g.30409554A>T g.31821751A>T MYLK2(NM_033118.3):c.772+14A>T - MYLK2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783G>A r.(?) p.(Pro261=) Unknown - likely benign g.30411290G>A g.31823487G>A MYLK2(NM_033118.3):c.783G>A (p.P261=) - MYLK2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.834T>A r.(?) p.(Asn278Lys) Unknown - likely benign g.30411341T>A g.31823538T>A MYLK2(NM_033118.3):c.834T>A (p.N278K) - MYLK2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.834T>A r.(?) p.(Asn278Lys) Unknown - VUS g.30411341T>A g.31823538T>A MYLK2(NM_033118.3):c.834T>A (p.N278K) - MYLK2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.918C>T r.(?) p.(Ala306=) Unknown - benign g.30412101C>T g.31824298C>T MYLK2(NM_033118.3):c.918C>T (p.A306=) - MYLK2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.918C>T r.(?) p.(Ala306=) Unknown - benign g.30412101C>T g.31824298C>T MYLK2(NM_033118.3):c.918C>T (p.A306=) - MYLK2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972+14G>A r.(=) p.(=) Unknown - likely benign g.30412169G>A g.31824366G>A MYLK2(NM_033118.3):c.972+14G>A - MYLK2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.972+14G>A r.(=) p.(=) Unknown - likely benign g.30412169G>A g.31824366G>A MYLK2(NM_033118.3):c.972+14G>A - MYLK2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1016A>G r.(?) p.(His339Arg) Unknown - VUS g.30414451A>G - MYLK2(NM_033118.3):c.1016A>G (p.H339R) - MYLK2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1019G>A r.(?) p.(Arg340His) Unknown - VUS g.30414454G>A g.31826651G>A MYLK2(NM_033118.3):c.1019G>A (p.R340H) - MYLK2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1047C>T r.(?) p.(Ile349=) Unknown - likely benign g.30414482C>T g.31826679C>T MYLK2(NM_033118.3):c.1047C>T (p.I349=) - MYLK2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1048G>T r.(?) p.(Glu350Ter) Unknown - VUS g.30414483G>T g.31826680G>T - - MYLK2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1068C>T r.(?) p.(Val356=) Unknown - benign g.30414503C>T g.31826700C>T MYLK2(NM_033118.3):c.1068C>T (p.V356=) - MYLK2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1073_1082+2del r.spl? p.? Unknown - VUS g.30414508_30414519del - MYLK2(NM_033118.3):c.1071_1082delGTTCATGGAGTA (p.F358_Y361del) - MYLK2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1078del r.(?) p.(Glu360SerfsTer19) Unknown - VUS g.30414513del g.31826710del MYLK2(NM_033118.3):c.1078delG (p.E360Sfs*19) - MYLK2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1082+11G>A r.(=) p.(=) Unknown - benign g.30414528G>A g.31826725G>A MYLK2(NM_033118.3):c.1082+11G>A - MYLK2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1082+11G>A r.(=) p.(=) Unknown - likely benign g.30414528G>A g.31826725G>A MYLK2(NM_033118.3):c.1082+11G>A - MYLK2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1083-4A>G r.spl? p.? Unknown - likely benign g.30414596A>G g.31826793A>G MYLK2(NM_033118.3):c.1083-4A>G - MYLK2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1086C>T r.(?) p.(Ile362=) Unknown - likely benign g.30414603C>T g.31826800C>T MYLK2(NM_033118.3):c.1086C>T (p.I362=) - MYLK2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1104C>T r.(?) p.(Phe368=) Unknown - benign g.30414621C>T g.31826818C>T MYLK2(NM_033118.3):c.1104C>T (p.F368=) - MYLK2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1104C>T r.(=) p.(=) Both (homozygous) - likely benign g.30414621C>T g.31826818C>T - - MYLK2_000025 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6089088 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
-?/. - c.1123G>A r.(?) p.(Asp375Asn) Unknown - likely benign g.30414640G>A g.31826837G>A MYLK2(NM_033118.3):c.1123G>A (p.D375N) - MYLK2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1123G>A r.(?) p.(Asp375Asn) Unknown - VUS g.30414640G>A g.31826837G>A MYLK2(NM_033118.3):c.1123G>A (p.D375N) - MYLK2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1123G>A r.(?) p.(Asp375Asn) Unknown - VUS g.30414640G>A g.31826837G>A - - MYLK2_000026 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/121 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.1169T>C r.(?) p.(Ile390Thr) Unknown - VUS g.30414686T>C g.31826883T>C MYLK2(NM_033118.3):c.1169T>C (p.I390T) - MYLK2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1204G>T r.(?) p.(Val402Phe) Parent #1 - likely benign g.30414721G>T g.31826918G>T - - MYLK2_000057 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs779637525 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.1224+8A>C r.(=) p.(=) Unknown - likely benign g.30414749A>C g.31826946A>C MYLK2(NM_033118.3):c.1224+8A>C - MYLK2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1225-13C>G r.(=) p.(=) Unknown - likely benign g.30418609C>G g.31830806C>G MYLK2(NM_033118.3):c.1225-13C>G - MYLK2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1253C>T r.(?) p.(Thr418Ile) Unknown - VUS g.30418650C>T g.31830847C>T MYLK2(NM_033118.3):c.1253C>T (p.T418I) - MYLK2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1295+4C>A r.spl? p.? Unknown - likely benign g.30418696C>A g.31830893C>A MYLK2(NM_033118.3):c.1295+4C>A - MYLK2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1295+4C>A r.spl? p.? Unknown - likely benign g.30418696C>A g.31830893C>A MYLK2(NM_033118.3):c.1295+4C>A - MYLK2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1295+4C>A r.spl? p.? Unknown - likely benign g.30418696C>A g.31830893C>A MYLK2(NM_033118.3):c.1295+4C>A - MYLK2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1308C>T r.(?) p.(Asn436=) Unknown - likely benign g.30418828C>T g.31831025C>T MYLK2(NM_033118.3):c.1308C>T (p.N436=) - MYLK2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1308C>T r.(?) p.(Asn436=) Unknown - likely benign g.30418828C>T g.31831025C>T MYLK2(NM_033118.3):c.1308C>T (p.N436=) - MYLK2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1356G>A r.(?) p.(Glu452=) Unknown - likely benign g.30418876G>A g.31831073G>A MYLK2(NM_033118.3):c.1356G>A (p.E452=) - MYLK2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1356G>A r.(?) p.(Glu452=) Unknown - likely benign g.30418876G>A g.31831073G>A MYLK2(NM_033118.3):c.1356G>A (p.E452=) - MYLK2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1356G>A r.(?) p.(Glu452=) Unknown - likely benign g.30418876G>A g.31831073G>A MYLK2(NM_033118.3):c.1356G>A (p.E452=) - MYLK2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1356G>A r.(?) p.(Glu452=) Unknown - likely benign g.30418876G>A - MYLK2(NM_033118.3):c.1356G>A (p.E452=) - MYLK2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1377C>A r.(?) p.(Ile459=) Unknown - likely benign g.30418897C>A g.31831094C>A MYLK2(NM_033118.3):c.1377C>A (p.I459=) - MYLK2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1458T>C r.(?) p.(Asp486=) Unknown - likely benign g.30419539T>C g.31831736T>C MYLK2(NM_033118.3):c.1458T>C (p.D486=) - MYLK2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1458T>C r.(?) p.(Asp486=) Unknown - likely benign g.30419539T>C g.31831736T>C MYLK2(NM_033118.3):c.1458T>C (p.D486=) - MYLK2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1533C>T r.(?) p.(Asp511=) Unknown - likely benign g.30419614C>T - MYLK2(NM_033118.3):c.1533C>T (p.D511=) - MYLK2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1584G>A r.(?) p.(Arg528=) Unknown - likely benign g.30419813G>A g.31832010G>A MYLK2(NM_033118.3):c.1584G>A (p.R528=) - MYLK2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1584G>A r.(?) p.(Arg528=) Unknown - likely benign g.30419813G>A g.31832010G>A MYLK2(NM_033118.3):c.1584G>A (p.R528=) - MYLK2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1584G>A r.(?) p.(Arg528=) Unknown - likely benign g.30419813G>A - MYLK2(NM_033118.3):c.1584G>A (p.R528=) - MYLK2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1613C>T r.(?) p.(Pro538Leu) Unknown - VUS g.30419842C>T g.31832039C>T MYLK2(NM_033118.3):c.1613C>T (p.P538L) - MYLK2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1655G>A r.(?) p.(Arg552Gln) Unknown - VUS g.30419884G>A g.31832081G>A - - MYLK2_000002 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 79 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - 0 - - - 1 Ellika Sahlin
-?/. - c.1656A>T r.(?) p.(Arg552=) Unknown - likely benign g.30419885A>T - MYLK2(NM_033118.3):c.1656A>T (p.R552=) - MYLK2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1659C>T r.(?) p.(Arg553=) Unknown - likely benign g.30419888C>T g.31832085C>T MYLK2(NM_033118.3):c.1659C>T (p.R553=) - MYLK2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1702C>T r.(?) p.(Arg568Cys) Unknown - VUS g.30419931C>T g.31832128C>T - - MYLK2_000003 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 108 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - 0 - - - 1 Ellika Sahlin
?/. - c.1702C>T r.(?) p.(Arg568Cys) Unknown - VUS g.30419931C>T g.31832128C>T MYLK2(NM_033118.3):c.1702C>T (p.R568C) - MYLK2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1710+8T>C r.(=) p.(=) Unknown - likely benign g.30419947T>C g.31832144T>C MYLK2(NM_033118.3):c.1710+8T>C - MYLK2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1710+15A>G r.(=) p.(=) Unknown - benign g.30419954A>G g.31832151A>G MYLK2(NM_033118.3):c.1710+15A>G - MYLK2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1710+15A>T r.(=) p.(=) Unknown - likely benign g.30419954A>T g.31832151A>T MYLK2(NM_033118.3):c.1710+15A>T - MYLK2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1711-20C>G r.(=) p.(=) Unknown - benign g.30421500C>G g.31833697C>G MYLK2(NM_033118.3):c.1711-20C>G - MYLK2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1711-6C>T r.(=) p.(=) Unknown - benign g.30421514C>T g.31833711C>T MYLK2(NM_033118.3):c.1711-6C>T - MYLK2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1778C>T r.(?) p.(Ala593Val) Unknown - likely benign g.30421587C>T g.31833784C>T MYLK2(NM_033118.3):c.1778C>T (p.A593V) - MYLK2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1790G>A r.(?) p.(Ter597=) Unknown - likely benign g.30421599G>A g.31833796G>A MYLK2(NM_033118.3):c.1790G>A (p.*597=) - MYLK2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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