Full data view for gene MME

Information The variants shown are described using the NM_007289.2 transcript reference sequence.

134 entries on 2 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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 1i c.-10-582T>A r.(=) p.(=) Unknown - association g.154801365T>A g.155083576T>A - - MME_000048 rs989692 was significantly associated with ACEi induced angioedema in ONTARGET and Nashville/Marshfield African Americans. MME is the gene encoding neprilysin, an enzyme that degrades bradykinin and substance P. Journal: Page 2013 - rs989692 Germline - - - - - DNA SEQ-NG blood - AEACEI - Journal: Pare 2013 Patient cohort presenting with AEACEI: iatrogenic angioedema induced by ACEi - - United States - - - - - 1 Christian Drouet
-/. - c.22A>G r.(?) p.(Met8Val) Unknown - benign g.154801978A>G g.155084189A>G MME(NM_007289.4):c.22A>G (p.M8V) - MME_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.62A>T r.(?) p.(Lys21Ile) Unknown - VUS g.154802018A>T - MME(NM_007289.4):c.62A>T (p.K21I) - MME_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.68G>A r.(?) p.(Arg23Gln) Unknown - likely pathogenic g.154802024G>A g.155084235G>A - - MME_000033 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
?/. - c.68G>A r.(?) p.(Arg23Gln) Unknown - VUS g.154802024G>A - MME(NM_007289.4):c.68G>A (p.R23Q) - MME_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.96G>A r.(?) p.(Ser32=) Unknown - likely benign g.154802052G>A g.155084263G>A MME(NM_007289.3):c.96G>A (p.S32=) - MME_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157G>A r.(?) p.(Asp53Asn) Unknown - likely benign g.154802113G>A - MME(NM_007289.4):c.157G>A (p.(Asp53Asn)) - MME_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.160+13C>T r.(=) p.(=) Unknown - benign g.154802129C>T g.155084340C>T MME(NM_007289.4):c.160+13C>T - MME_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.160+15C>T r.(=) p.(=) Unknown - benign g.154802131C>T g.155084342C>T MME(NM_007289.4):c.160+15C>T - MME_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.161-9T>C r.(=) p.(=) Unknown - likely benign g.154802839T>C - MME(NM_007289.4):c.161-9T>C - MME_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.197-15T>G r.(=) p.(=) Unknown - benign g.154832768T>G g.155114979T>G MME(NM_007289.4):c.197-15T>G - MME_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197-4G>C r.spl? p.? Unknown - likely benign g.154832779G>C g.155114990G>C MME(NM_007289.4):c.197-4G>C - MME_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.197-4G>C r.spl? p.? Unknown - likely benign g.154832779G>C - MME(NM_007289.4):c.197-4G>C - MME_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245A>C r.(?) p.(Asp82Ala) Unknown - VUS g.154832831A>C - MME(NM_007288.3):c.245A>C (p.D82A) - MME_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.307C>T r.(?) p.(Arg103Cys) Unknown - VUS g.154832893C>T g.155115104C>T MME(NM_007289.3):c.307C>T (p.R103C), MME(NM_007289.4):c.307C>T (p.R103C) - MME_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.307C>T r.(?) p.(Arg103Cys) Unknown - VUS g.154832893C>T g.155115104C>T MME(NM_007289.3):c.307C>T (p.R103C), MME(NM_007289.4):c.307C>T (p.R103C) - MME_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.439+33_439+48AT[13] r.(?) p.(=) Both (homozygous) - benign g.154834387_154834396ATdup g.155116598_155116607ATdup AT 13x - MME_000039 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - Healthy/Control FamMH-1Pat8 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[13] r.(?) p.(=) Both (homozygous) - benign g.154834387_154834396ATdup g.155116598_155116607ATdup AT 13x - MME_000039 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - Healthy/Control FamMH-1Pat4 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[13] r.(?) p.(=) Both (homozygous) - benign g.154834387_154834396ATdup g.155116598_155116607ATdup AT 13x - MME_000039 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-12 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[13] r.(?) p.(=) Both (homozygous) - benign g.154834387_154834396ATdup g.155116598_155116607ATdup AT 13x - MME_000039 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-13 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[13] r.(?) p.(=) Parent #2 - benign g.154834387_154834396ATdup g.155116598_155116607ATdup AT 13x - MME_000039 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-1Pat3 PubMed: Hoyer 2022 3-generation family, 4 affected - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[14] r.(?) p.(=) Parent #2 - benign g.154834385_154834396ATdup g.155116596_155116607ATdup AT 13x - MME_000041 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-1Pat7 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[15] r.(?) p.(=) Parent #2 - benign g.154834383_154834396ATdup g.155116594_155116607ATdup AT 13x - MME_000040 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-1Pat6 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Parent #1 - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-1Pat3 PubMed: Hoyer 2022 3-generation family, 4 affected - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Parent #1 - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-1Pat6 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Parent #1 - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-1Pat7 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-1Pat9 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-2Pat5 PubMed: Hoyer 2022 3-generation family, 4 affected - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-2Pat6 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-2Pat7 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-3 PubMed: Hoyer 2022 family, 3 affected - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-3 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-3 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-4 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-5 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat4 PubMed: Hoyer 2022 3-generation family, 3 affected carriers, 4 asymptomatic carriers - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat2 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat7 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat5 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat9 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Parent #1 - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat8 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Parent #1 - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat10 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-7 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-8 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-9 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-10 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-11 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Parent #1 - benign g.154834381_154834396AT= g.155116592_155116607AT= AT 8x - MME_000039 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-14Pat3 PubMed: Hoyer 2022 2-generation family, 3 affected - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834387_154834396ATdup g.155116598_155116607ATdup AT 13x - MME_000039 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-15 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Both (homozygous) - benign g.154834387_154834396ATdup g.155116598_155116607ATdup AT 13x - MME_000039 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-16 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Parent #2 - benign g.154834387_154834396ATdup g.155116598_155116607ATdup AT 15x - MME_000039 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat8 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Parent #2 - benign g.154834387_154834396ATdup g.155116598_155116607ATdup AT 14x - MME_000039 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat10 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
-/. 5i c.439+33_439+48AT[8] r.(?) p.(=) Parent #2 - benign g.154834387_154834396ATdup g.155116598_155116607ATdup AT 13x - MME_000039 allele complicates PCR amplification PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-14Pat3 PubMed: Hoyer 2022 2-generation family, 3 affected - - - - - - - - 1 Johan den Dunnen
+/. - c.440-2A>C r.spl p.? Parent #1 - pathogenic g.154834451A>C g.155116662A>C - - MME_000042 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-12 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.440-2A>C r.spl p.? Parent #1 - pathogenic g.154834451A>C g.155116662A>C - - MME_000042 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-13 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.440-2A>C r.spl p.? Parent #1 - pathogenic g.154834451A>C g.155116662A>C - - MME_000042 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-14Pat3 PubMed: Hoyer 2022 2-generation family, 3 affected - - - - - - - - 1 Johan den Dunnen
+/. - c.440-2A>C r.spl p.? Parent #1 - pathogenic g.154834451A>C g.155116662A>C - - MME_000042 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-15 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.440-2A>C r.spl p.? Parent #1 - pathogenic g.154834451A>C g.155116662A>C - - MME_000042 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-16 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.445A>G r.(?) p.(Ile149Val) Unknown - VUS g.154834458A>G g.155116669A>G MME(NM_007289.3):c.445A>G (p.I149V) - MME_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.467del r.(?) p.(Pro156LeufsTer14) Unknown - likely pathogenic g.154834480del g.155116691del MME(NM_007288.3):c.467delC (p.P156Lfs*14), MME(NM_007289.3):c.467delC (p.P156Lfs*14), MME(NM_007289.4):c.467delC (p.P156Lfs*14) - MME_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.467del r.(?) p.(Pro156LeufsTer14) Unknown - likely pathogenic g.154834480del - MME(NM_007288.3):c.467delC (p.P156Lfs*14), MME(NM_007289.3):c.467delC (p.P156Lfs*14), MME(NM_007289.4):c.467delC (p.P156Lfs*14) - MME_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Both (homozygous) - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-1Pat3 PubMed: Hoyer 2022 3-generation family, 4 affected - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Both (homozygous) - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-1Pat6 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Both (homozygous) - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-1Pat7 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-1Pat9 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-2Pat5 PubMed: Hoyer 2022 3-generation family, 4 affected - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Both (homozygous) - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-2Pat6 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-3 PubMed: Hoyer 2022 family, 3 affected - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-3 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-3 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-4 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-5 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat4 PubMed: Hoyer 2022 3-generation family, 3 affected carriers, 4 asymptomatic carriers - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat2 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat7 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat5 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat9 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Both (homozygous) - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat8 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Both (homozygous) - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-6Pat10 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Both (homozygous) - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-7 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-8 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-9 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Both (homozygous) - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-10 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Parent #1 - pathogenic g.154834480del g.155116691del - - MME_000023 - PubMed: Hoyer 2022 - - Germline - - - - - DNA SEQ - - CMT FamMH-11 PubMed: Hoyer 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Unknown - pathogenic g.154834480del - MME(NM_007288.3):c.467delC (p.P156Lfs*14), MME(NM_007289.3):c.467delC (p.P156Lfs*14), MME(NM_007289.4):c.467delC (p.P156Lfs*14) - MME_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.467del r.(?) p.(Pro156LeufsTer14) Unknown - pathogenic g.154834480del - - - MME_000023 - - - rs749320057 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.535+2T>G r.spl? p.? Unknown - VUS g.154834550T>G - MME(NM_007288.3):c.535+2T>G - MME_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.676C>T r.(?) p.(Leu226Phe) Unknown - VUS g.154836556C>T - - - MME_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.720+1del r.(?) p.(Ala241Leufs*9) Unknown - likely pathogenic g.154836601del - MME(NM_007288.3):c.720delG (p.A241Lfs*9) - MME_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.786G>A r.(?) p.(Leu262=) Unknown - likely benign g.154855956G>A g.155138167G>A MME(NM_007289.3):c.786G>A (p.L262=) - MME_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.844G>T r.(?) p.(Glu282*) Unknown - likely pathogenic g.154856014G>T - MME(NM_007289.4):c.844G>T (p.E282*) - MME_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.855+6A>T r.(=) p.(=) Unknown - likely benign g.154856031A>T g.155138242A>T MME(NM_007289.3):c.855+6A>T, MME(NM_007289.4):c.855+6A>T - MME_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.855+6A>T r.(=) p.(=) Unknown - likely benign g.154856031A>T - MME(NM_007289.3):c.855+6A>T, MME(NM_007289.4):c.855+6A>T - MME_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.855+6A>T r.(=) p.(=) Unknown - likely benign g.154856031A>T - MME(NM_007289.3):c.855+6A>T, MME(NM_007289.4):c.855+6A>T - MME_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.877C>T r.(?) p.(Arg293Ter) Unknown - likely pathogenic g.154858001C>T - - - MME_000051 - - - rs764060752 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1032G>T r.(?) p.(Val344=) Unknown - benign g.154859854G>T - MME(NM_007289.4):c.1032G>T (p.V344=) - MME_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1033G>A r.(?) p.(Val345Ile) Unknown - likely benign g.154859855G>A g.155142066G>A MME(NM_007289.3):c.1033G>A (p.V345I), MME(NM_007289.4):c.1033G>A (p.V345I) - MME_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1033G>A r.(?) p.(Val345Ile) Unknown - likely benign g.154859855G>A g.155142066G>A MME(NM_007289.3):c.1033G>A (p.V345I), MME(NM_007289.4):c.1033G>A (p.V345I) - MME_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1040A>G r.(?) p.(Tyr347Cys) Unknown - VUS g.154859862A>G g.155142073A>G MME(NM_007289.3):c.1040A>G (p.Y347C), MME(NM_007289.4):c.1040A>G (p.Y347C, p.(Tyr347Cys)) - MME_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1040A>G r.(?) p.(Tyr347Cys) Unknown - VUS g.154859862A>G g.155142073A>G MME(NM_007289.3):c.1040A>G (p.Y347C), MME(NM_007289.4):c.1040A>G (p.Y347C, p.(Tyr347Cys)) - MME_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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