Full data view for gene MYLK

Information The variants shown are described using the NM_053025.3 transcript reference sequence.

472 entries on 5 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.-186+11C>G r.(=) p.(=) Unknown - likely benign g.123603042G>C - MYLK(NM_053025.3):c.-186+11C>G - MYLK_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-153C>T r.(?) p.(=) Unknown - benign g.123595432G>A g.123876585G>A - - MYLK_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3A>G r.(?) p.(=) Unknown - VUS g.123512691T>C - MYLK(NM_053025.4):c.-3A>G - MYLK_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.24C>G r.(?) p.(Ala8=) Unknown - likely benign g.123512665G>C - MYLK(NM_053025.3):c.24C>G (p.A8=) - MYLK_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.62C>A r.(?) p.(Pro21His) Unknown - benign g.123512627G>T g.123793780G>T MYLK(NM_053025.3):c.62C>A (p.P21H), MYLK(NM_053025.4):c.62C>A (p.P21H) - MYLK_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.62C>A r.(?) p.(Pro21His) Unknown - benign g.123512627G>T g.123793780G>T MYLK(NM_053025.3):c.62C>A (p.P21H), MYLK(NM_053025.4):c.62C>A (p.P21H) - MYLK_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.119G>A r.(?) p.(Arg40Gln) Unknown - VUS g.123512570C>T - MYLK(NM_053025.4):c.119G>A (p.(Arg40Gln)) - MYLK_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139G>A r.(?) p.(Gly47Arg) Unknown ACMG VUS g.123512550C>T g.123793703C>T - - MYLK_000235 - PubMed: Isbister 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - CM BEM1 PubMed: Isbister 2020 - M - Australia Asia-NE - - - - 1 Johan den Dunnen
-?/. - c.166-160A>T r.(=) p.(=) Unknown - likely benign g.123471545T>A - MYLK(NM_053025.4):c.166-160A>T - MYLK_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.169C>T r.(?) p.(Arg57Trp) Unknown - VUS g.123471382G>A g.123752535G>A - - MYLK_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174T>C r.(?) p.(Gly58=) Unknown - likely benign g.123471377A>G g.123752530A>G MYLK(NM_053025.4):c.174T>C (p.G58=) - MYLK_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207C>T r.(?) p.(Asn69=) Unknown - likely benign g.123471344G>A g.123752497G>A MYLK(NM_053025.3):c.207C>T (p.N69=), MYLK(NM_053025.4):c.207C>T (p.N69=) - MYLK_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207C>T r.(?) p.(Asn69=) Unknown - likely benign g.123471344G>A - MYLK(NM_053025.3):c.207C>T (p.N69=), MYLK(NM_053025.4):c.207C>T (p.N69=) - MYLK_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.256C>T r.(?) p.(Arg86Trp) Unknown - VUS g.123471295G>A g.123752448G>A MYLK(NM_053025.3):c.256C>T (p.R86W), MYLK(NM_053025.4):c.256C>T (p.R86W) - MYLK_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.256C>T r.(?) p.(Arg86Trp) Unknown - likely benign g.123471295G>A g.123752448G>A MYLK(NM_053025.3):c.256C>T (p.R86W), MYLK(NM_053025.4):c.256C>T (p.R86W) - MYLK_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.256C>T r.(?) p.(Arg86Trp) Unknown - VUS g.123471295G>A g.123752448G>A MYLK(NM_053025.3):c.256C>T (p.R86W), MYLK(NM_053025.4):c.256C>T (p.R86W) - MYLK_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.256C>T r.(?) p.(Arg86Trp) Unknown - VUS g.123471295G>A - MYLK(NM_053025.3):c.256C>T (p.R86W), MYLK(NM_053025.4):c.256C>T (p.R86W) - MYLK_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.260G>A r.(?) p.(Gly87Glu) Unknown - likely benign g.123471291C>T - MYLK(NM_053025.4):c.260G>A (p.G87E) - MYLK_000317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304G>C r.(?) p.(Gly102Arg) Unknown - VUS g.123471247C>G g.123752400C>G MYLK(NM_053025.3):c.304G>C (p.G102R, p.(Gly102Arg)) - MYLK_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304G>C r.(?) p.(Gly102Arg) Unknown - VUS g.123471247C>G g.123752400C>G MYLK(NM_053025.3):c.304G>C (p.G102R, p.(Gly102Arg)) - MYLK_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304G>C r.(?) p.(Gly102Arg) Unknown - VUS g.123471247C>G - MYLK(NM_053025.3):c.304G>C (p.G102R, p.(Gly102Arg)) - MYLK_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312T>C r.(?) p.(Tyr104=) Unknown - likely benign g.123471239A>G g.123752392A>G MYLK(NM_053025.3):c.312T>C (p.Y104=) - MYLK_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.330T>A r.(?) p.(Asn110Lys) Unknown - VUS g.123471221A>T g.123752374A>T MYLK(NM_053025.3):c.330T>A (p.N110K) - MYLK_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.344G>A r.(?) p.(Arg115His) Unknown - VUS g.123471207C>T g.123752360C>T - - MYLK_000002 - PubMed: Neubauer 2017, Journal: Neubauer 2017 - rs141131535 Germline ? - - - - DNA SEQ-NG-I - - SIDS SIDS031 PubMed: Neubauer 2017 Journal: Neubauer 2017 - F ? Switzerland Europe 00y04m - - - 1 Cordula Haas
?/. - c.344G>A r.(?) p.(Arg115His) Unknown - VUS g.123471207C>T g.123752360C>T MYLK(NM_053025.3):c.344G>A (p.R115H) - MYLK_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.373+18C>G r.(=) p.(=) Unknown - likely benign g.123471160G>C - MYLK(NM_053025.4):c.373+18C>G - MYLK_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.373+18C>T r.(=) p.(=) Unknown - benign g.123471160G>A g.123752313G>A MYLK(NM_053025.3):c.373+18C>T, MYLK(NM_053025.4):c.373+18C>T - MYLK_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.373+18C>T r.(=) p.(=) Unknown - benign g.123471160G>A g.123752313G>A MYLK(NM_053025.3):c.373+18C>T, MYLK(NM_053025.4):c.373+18C>T - MYLK_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.374-189A>G r.(=) p.(=) Unknown - likely benign g.123459037T>C g.123740190T>C MYLK(NM_053025.4):c.374-189A>G - MYLK_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376A>C r.(?) p.(Ser126Arg) Unknown - likely benign g.123458846T>G g.123739999T>G MYLK(NM_053025.3):c.376A>C (p.S126R) - MYLK_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.382G>A r.(?) p.(Ala128Thr) Unknown - likely benign g.123458840C>T g.123739993C>T MYLK(NM_053025.3):c.382G>A (p.(Ala128Thr)), MYLK(NM_053025.4):c.382G>A (p.A128T) - MYLK_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.382G>A r.(?) p.(Ala128Thr) Unknown - likely benign g.123458840C>T g.123739993C>T MYLK(NM_053025.3):c.382G>A (p.(Ala128Thr)), MYLK(NM_053025.4):c.382G>A (p.A128T) - MYLK_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.383C>T r.(?) p.(Ala128Val) Unknown - likely benign g.123458839G>A g.123739992G>A MYLK(NM_053025.4):c.383C>T (p.A128V) - MYLK_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.384G>A r.(?) p.(Ala128=) Unknown - likely benign g.123458838C>T g.123739991C>T MYLK(NM_053025.3):c.384G>A (p.A128=) - MYLK_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399G>T r.(?) p.(Gln133His) Unknown - likely benign g.123458823C>A g.123739976C>A MYLK(NM_053025.3):c.399G>T (p.Q133H), MYLK(NM_053025.4):c.399G>T (p.Q133H) - MYLK_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399G>T r.(?) p.(Gln133His) Unknown - likely benign g.123458823C>A g.123739976C>A MYLK(NM_053025.3):c.399G>T (p.Q133H), MYLK(NM_053025.4):c.399G>T (p.Q133H) - MYLK_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399G>T r.(?) p.(Gln133His) Unknown - likely benign g.123458823C>A g.123739976C>A MYLK(NM_053025.3):c.399G>T (p.Q133H), MYLK(NM_053025.4):c.399G>T (p.Q133H) - MYLK_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.411C>G r.(?) p.(Ser137=) Unknown - benign g.123458811G>C g.123739964G>C MYLK(NM_053025.3):c.411C>G (p.S137=), MYLK(NM_053025.4):c.411C>G (p.S137=) - MYLK_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.411C>G r.(?) p.(Ser137=) Unknown - benign g.123458811G>C g.123739964G>C MYLK(NM_053025.3):c.411C>G (p.S137=), MYLK(NM_053025.4):c.411C>G (p.S137=) - MYLK_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.422+14G>C r.(=) p.(=) Unknown - benign g.123458786C>G g.123739939C>G MYLK(NM_053025.4):c.422+14G>C - MYLK_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422+168G>C r.(=) p.(=) Unknown - likely benign g.123458632C>G g.123739785C>G MYLK(NM_053025.4):c.422+168G>C - MYLK_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.424G>T r.(?) p.(Asp142Tyr) Unknown - VUS g.123457908C>A g.123739061C>A MYLK(NM_053025.3):c.424G>T (p.D142Y) - MYLK_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.439C>T r.(439C>T) p.(Pro147Ser) Unknown - likely pathogenic g.123457893G>A g.123739046G>A - - MYLK_000001 By in silico prediction, this variant may change mRNA global structure. Also, this variant may change the mRNA local structure around translation initiation site. Changes potentially alter protein expression level. Predicted mRNA structure was computed by RNAfold program (Vienna package). - - rs9840993 Somatic - - - - - DNA SEQ Blood - asthma, susceptibility to - - - - - - - - - - - 1 Tong Zhou
-/. - c.439C>T r.(?) p.(Pro147Ser) Unknown - benign g.123457893G>A g.123739046G>A MYLK(NM_053025.3):c.438_439delTCinsTT (p.P147S), MYLK(NM_053025.4):c.439C>T (p.P147S) - MYLK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.439C>T r.(?) p.(Pro147Ser) Unknown - benign g.123457893G>A g.123739046G>A MYLK(NM_053025.3):c.438_439delTCinsTT (p.P147S), MYLK(NM_053025.4):c.439C>T (p.P147S) - MYLK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.439C>T r.(?) p.(Pro147Ser) Unknown - benign g.123457893G>A g.123739046G>A MYLK(NM_053025.3):c.438_439delTCinsTT (p.P147S), MYLK(NM_053025.4):c.439C>T (p.P147S) - MYLK_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.443C>T r.(?) p.(Ala148Val) Unknown - likely benign g.123457889G>A g.123739042G>A MYLK(NM_053025.3):c.443C>T (p.A148V) - MYLK_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454C>T r.(?) p.(Arg152Cys) Unknown - likely benign g.123457878G>A - - - MYLK_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.455G>A r.(?) p.(Arg152His) Unknown - likely benign g.123457877C>T g.123739030C>T MYLK(NM_053025.3):c.455G>A (p.R152H), MYLK(NM_053025.4):c.455G>A (p.R152H) - MYLK_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.455G>A r.(?) p.(Arg152His) Unknown - likely benign g.123457877C>T - MYLK(NM_053025.3):c.455G>A (p.R152H), MYLK(NM_053025.4):c.455G>A (p.R152H) - MYLK_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.463A>G r.(?) p.(Ile155Val) Unknown - VUS g.123457869T>C g.123739022T>C MYLK(NM_053025.3):c.463A>G (p.I155V), MYLK(NM_053025.4):c.463A>G (p.I155V) - MYLK_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.463A>G r.(?) p.(Ile155Val) Unknown - VUS g.123457869T>C - MYLK(NM_053025.3):c.463A>G (p.I155V), MYLK(NM_053025.4):c.463A>G (p.I155V) - MYLK_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465C>A r.(?) p.(Ile155=) Unknown - likely benign g.123457867G>T - MYLK(NM_053025.3):c.465C>A (p.I155=) - MYLK_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.479C>G r.(?) p.(Pro160Arg) Unknown - benign g.123457853G>C g.123739006G>C MYLK(NM_053025.3):c.479C>G (p.P160R), MYLK(NM_053025.4):c.479C>G (p.P160R) - MYLK_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.479C>G r.(?) p.(Pro160Arg) Unknown - benign g.123457853G>C - MYLK(NM_053025.3):c.479C>G (p.P160R), MYLK(NM_053025.4):c.479C>G (p.P160R) - MYLK_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.479C>G r.(?) p.(Pro160Arg) Unknown - benign g.123457853G>C - MYLK(NM_053025.3):c.479C>G (p.P160R), MYLK(NM_053025.4):c.479C>G (p.P160R) - MYLK_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493del r.(?) p.(Thr165ProfsTer72) Unknown - VUS g.123457839del g.123738992del MYLK(NM_053025.3):c.493delA (p.(Thr165fs)), MYLK(NM_053025.3):c.493delA (p.T165Pfs*72), MYLK(NM_053025.4):c.493delA (p.T165Pfs*72) - MYLK_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493del r.(?) p.(Thr165ProfsTer72) Unknown - VUS g.123457839del g.123738992del MYLK(NM_053025.3):c.493delA (p.(Thr165fs)), MYLK(NM_053025.3):c.493delA (p.T165Pfs*72), MYLK(NM_053025.4):c.493delA (p.T165Pfs*72) - MYLK_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493del r.(?) p.(Thr165ProfsTer72) Unknown - VUS g.123457839del g.123738992del MYLK(NM_053025.3):c.493delA (p.(Thr165fs)), MYLK(NM_053025.3):c.493delA (p.T165Pfs*72), MYLK(NM_053025.4):c.493delA (p.T165Pfs*72) - MYLK_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.506G>A r.(?) p.(Arg169Gln) Unknown - VUS g.123457826C>T g.123738979C>T MYLK(NM_053025.3):c.506G>A (p.R169Q) - MYLK_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575T>C r.(?) p.(Val192Ala) Unknown - VUS g.123457757A>G g.123738910A>G MYLK(NM_053025.4):c.575T>C (p.V192A) - MYLK_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575T>C r.(?) p.(Val192Ala) Parent #1 - VUS g.123457757A>G g.123738910A>G - - MYLK_000190 - PubMed: Overwater 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat114 PubMed: Overwater 2018 - - - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.588+13_588+16del r.(=) p.(=) Unknown - likely benign g.123457732_123457735del g.123738885_123738888del MYLK(NM_053025.3):c.588+13_588+16delTCTG, MYLK(NM_053025.4):c.588+13_588+16delTCTG - MYLK_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.588+13_588+16del r.(=) p.(=) Unknown - benign g.123457732_123457735del g.123738885_123738888del MYLK(NM_053025.3):c.588+13_588+16delTCTG, MYLK(NM_053025.4):c.588+13_588+16delTCTG - MYLK_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.588+17C>T r.(=) p.(=) Unknown - likely benign g.123457727G>A - MYLK(NM_053025.4):c.588+17C>T - MYLK_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.589-30A>T r.(=) p.(=) Unknown - benign g.123456420T>A g.123737573T>A MYLK(NM_053025.3):c.589-30A>T - MYLK_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.609G>C r.(?) p.(Pro203=) Unknown - likely benign g.123456370C>G g.123737523C>G MYLK(NM_053025.4):c.609G>C (p.P203=) - MYLK_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.652C>T r.(?) p.(Leu218=) Unknown - benign g.123456327G>A g.123737480G>A MYLK(NM_053025.3):c.652C>T (p.L218=), MYLK(NM_053025.4):c.652C>T (p.L218=) - MYLK_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.652C>T r.(?) p.(Leu218=) Unknown - benign g.123456327G>A - MYLK(NM_053025.3):c.652C>T (p.L218=), MYLK(NM_053025.4):c.652C>T (p.L218=) - MYLK_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.652C>T r.(?) p.(Leu218=) Unknown - benign g.123456327G>A - MYLK(NM_053025.3):c.652C>T (p.L218=), MYLK(NM_053025.4):c.652C>T (p.L218=) - MYLK_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681C>T r.(?) p.(=) Unknown - likely benign g.123456298G>A - MYLK(NM_053025.4):c.681C>T (p.D227=) - MYLK_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.682G>C r.(?) p.(Val228Leu) Unknown - likely benign g.123456297C>G g.123737450C>G MYLK(NM_053025.3):c.682G>C (p.V228L) - MYLK_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.684G>T r.(?) p.(Val228=) Unknown - likely benign g.123456295C>A g.123737448C>A MYLK(NM_053025.3):c.684G>T (p.V228=) - MYLK_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.697T>G r.(?) p.(Cys233Gly) Unknown - VUS g.123456282A>C g.123737435A>C MYLK(NM_053025.4):c.697T>G (p.C233G) - MYLK_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.711C>T r.(?) p.(Asn237=) Unknown - likely benign g.123456268G>A g.123737421G>A MYLK(NM_053025.3):c.711C>T (p.N237=), MYLK(NM_053025.4):c.711C>T (p.N237=) - MYLK_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.711C>T r.(?) p.(Asn237=) Unknown - likely benign g.123456268G>A - MYLK(NM_053025.3):c.711C>T (p.N237=), MYLK(NM_053025.4):c.711C>T (p.N237=) - MYLK_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.717G>A r.(?) p.(Ser239=) Unknown - likely benign g.123456262C>T g.123737415C>T MYLK(NM_053025.4):c.717G>A (p.S239=) - MYLK_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.717G>A r.(?) p.(Ser239=) Parent #1 - VUS g.123456262C>T g.123737415C>T - - MYLK_000186 - PubMed: Overwater 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat115 PubMed: Overwater 2018 - - - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.745T>G r.(?) p.(Ser249Ala) Unknown - VUS g.123456234A>C g.123737387A>C MYLK(NM_053025.3):c.745T>G (p.S249A) - MYLK_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.754+1G>A r.spl? p.? Unknown - VUS g.123456224C>T g.123737377C>T MYLK(NM_053025.4):c.754+1G>A - MYLK_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.754+16C>T r.(=) p.(=) Unknown - likely benign g.123456209G>A g.123737362G>A MYLK(NM_053025.4):c.754+16C>T - MYLK_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.754+17G>A r.(=) p.(=) Unknown - likely benign g.123456208C>T - MYLK(NM_053025.4):c.754+17G>A - MYLK_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.755-12C>T r.(=) p.(=) Unknown - likely benign g.123454275G>A g.123735428G>A MYLK(NM_053025.3):c.755-12C>T, MYLK(NM_053025.4):c.755-12C>T - MYLK_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.755-12C>T r.(=) p.(=) Unknown - benign g.123454275G>A g.123735428G>A MYLK(NM_053025.3):c.755-12C>T, MYLK(NM_053025.4):c.755-12C>T - MYLK_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.755-12C>T r.(=) p.(=) Unknown - benign g.123454275G>A g.123735428G>A MYLK(NM_053025.3):c.755-12C>T, MYLK(NM_053025.4):c.755-12C>T - MYLK_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.773+67A>T r.(=) p.(=) Unknown - likely benign g.123454178T>A - MYLK(NM_053025.4):c.773+67A>T - MYLK_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.774-18A>C r.(=) p.(=) Unknown - likely benign g.123453087T>G g.123734240T>G - - MYLK_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.774-15C>G r.(=) p.(=) Unknown - likely benign g.123453084G>C g.123734237G>C MYLK(NM_053025.4):c.774-15C>G - MYLK_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.774-15C>G r.(=) p.(=) Unknown - likely benign g.123453084G>C - MYLK(NM_053025.4):c.774-15C>G - MYLK_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.774-10C>T r.(=) p.(=) Unknown - likely benign g.123453079G>A - MYLK(NM_053025.4):c.774-10C>T - MYLK_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.782T>C r.(?) p.(Val261Ala) Unknown - benign g.123453061A>G g.123734214A>G MYLK(NM_053025.3):c.782T>C (p.V261A), MYLK(NM_053025.4):c.782T>C (p.V261A) - MYLK_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.782T>C r.(?) p.(Val261Ala) Unknown - benign g.123453061A>G g.123734214A>G MYLK(NM_053025.3):c.782T>C (p.V261A), MYLK(NM_053025.4):c.782T>C (p.V261A) - MYLK_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.782T>C r.(?) p.(Val261Ala) Unknown - benign g.123453061A>G g.123734214A>G MYLK(NM_053025.3):c.782T>C (p.V261A), MYLK(NM_053025.4):c.782T>C (p.V261A) - MYLK_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.937C>T r.(?) p.(Gln313Ter) Unknown - pathogenic g.123452906G>A g.123734059G>A MYLK(NM_053025.3):c.937C>T (p.Q313*) - MYLK_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.984G>A r.(?) p.(Ser328=) Unknown - likely benign g.123452859C>T g.123734012C>T MYLK(NM_053025.3):c.984G>A (p.S328=) - MYLK_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993G>A r.(?) p.(Thr331=) Unknown - likely benign g.123452850C>T - MYLK(NM_053025.3):c.993G>A (p.T331=) - MYLK_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.999G>A r.(?) p.(Pro333=) Unknown - likely benign g.123452844C>T g.123733997C>T MYLK(NM_053025.3):c.999G>A (p.P333=), MYLK(NM_053025.4):c.999G>A (p.P333=) - MYLK_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.999G>A r.(?) p.(Pro333=) Unknown - likely benign g.123452844C>T g.123733997C>T MYLK(NM_053025.3):c.999G>A (p.P333=), MYLK(NM_053025.4):c.999G>A (p.P333=) - MYLK_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.999G>A r.(?) p.(Pro333=) Unknown - likely benign g.123452844C>T g.123733997C>T MYLK(NM_053025.3):c.999G>A (p.P333=), MYLK(NM_053025.4):c.999G>A (p.P333=) - MYLK_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.999G>A r.(?) p.(Pro333=) Unknown - likely benign g.123452844C>T g.123733997C>T MYLK(NM_053025.3):c.999G>A (p.P333=), MYLK(NM_053025.4):c.999G>A (p.P333=) - MYLK_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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