Full data view for gene MLYCD

Information The variants shown are described using the NM_012213.2 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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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.(948+1_949-1)_*693{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(83945973_83948560)_(83949787_?)del g.(83912368_83914955)_(g.83916182_?)del del ex5 - MLYCD_000062 - PubMed: Chapel-Crespo 2019 - - Germline - - - - - DNA MLPA, SEQ - - MLYCDD Pat3 PubMed: Chapel-Crespo 2019 - F - Mexico - - - - - 1 Johan den Dunnen
+/. - c.(948+1_949-1)_*693{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(83945973_83948560)_(83949787_?)del g.(83912368_83914955)_(g.83916182_?)del del ex5 - MLYCD_000062 - PubMed: Chapel-Crespo 2019 - - Germline - - - - - DNA MLPA, SEQ - - MLYCDD Pat5 PubMed: Chapel-Crespo 2019 family, 2 affected M - Mexico - - - - - 2 Johan den Dunnen
+/. - c.(948+1_949-1)_*693{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(83945973_83948560)_(83949787_?)del g.(83912368_83914955)_(g.83916182_?)del del ex5 - MLYCD_000062 - PubMed: Chapel-Crespo 2019 - - Germline - - - - - DNA MLPA, SEQ - - MLYCDD Pat9 PubMed: Chapel-Crespo 2019 sib M - Mexico - - - - - 1 Johan den Dunnen
+/. - c.-20_(1_528){0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(?_83932730)_(83932750_83933277)del g.(?_83899125)_(83899145_83899672)del del ex1 and 5′UTR - MLYCD_000052 - PubMed: Chapel-Crespo 2019 - - Germline - - - - - DNA MLPA, SEQ - - MLYCDD Pat1 PubMed: Chapel-Crespo 2019 - M - - white - - - - 1 Johan den Dunnen
+/. - c.-20_(1_528){0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(?_83932730)_(83932750_83933277)del g.(?_83899125)_(83899145_83899672)del 5′UTRdel - MLYCD_000052 - PubMed: Salomons 2007 - - Germline - - - - - DNA MLPA, SEQ - - MLYCDD Pat5 PubMed: Salomons 2007 - M - - - - - - - 1 Johan den Dunnen
+/. - c.-20_*693{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_83932730)_(83949787_?)del g.(?_83899125)_(83916182_?)del del complete gene - CDH13_000005 - PubMed: Salomons 2007 - - Germline - - - - - DNA MLPA, SEQ - - MLYCDD Pat1 PubMed: Salomons 2007 - M - - - - - - - 1 Johan den Dunnen
+/. - c.-20_*693{0} r.0 p.0 Unknown - VUS g.(83300000_83342046)_(83949780_84000000)del - g.83342046_83949780del - CDH13_000005 - PubMed: Giugliano 2018 - - Germline - - - - - DNA arrayCGH - - MYOP Patient XIV PubMed: Giugliano 2018 - M ? - - - - - - 1 Teresa Giugliano
+/. - c.8G>A r.8g>a p.Gly3Asp Both (homozygous) - pathogenic (recessive) g.83932757G>A - - - MLYCD_000047 - PubMed: Wightman 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD Bro1 PubMed: Brown 1984, PubMed: Wightman 2003 - M - Australia - - - - - 1 Johan den Dunnen
?/. - c.13G>A r.(?) p.(Gly5Arg) Unknown - VUS g.83932762G>A g.83899157G>A MLYCD(NM_012213.2):c.13G>A (p.(Gly5Arg)) - MLYCD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.22_34del r.(?) p.(Leu8Valfs*61) Unknown - pathogenic g.83932771_83932783del - MLYCD(NM_012213.2):c.22_34delTTGACGGCCAGGC (p.L8Vfs*61) - MLYCD_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.22_34dup r.(?) p.(Arg12LeufsTer200) Parent #1 - pathogenic (recessive) g.83932771_83932783dup g.83899166_83899178dup c.23_24ins13 - MLYCD_000053 - PubMed: Chapel-Crespo 2019 - - Germline - - - - - DNA SEQ - - MLYCDD Pat7 PubMed: Chapel-Crespo 2019 - M - Nigeria - - - - - 1 Johan den Dunnen
-/. - c.31A>G r.(?) p.(Arg11Gly) Unknown - benign g.83932780A>G g.83899175A>G MLYCD(NM_012213.2):c.31A>G (p.(Arg11Gly)), MLYCD(NM_012213.3):c.31A>G (p.R11G) - MLYCD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31A>G r.(?) p.(Arg11Gly) Unknown - likely benign g.83932780A>G g.83899175A>G MLYCD(NM_012213.2):c.31A>G (p.(Arg11Gly)), MLYCD(NM_012213.3):c.31A>G (p.R11G) - MLYCD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.59dup r.59dup p.Arg21Alafs*187 Parent #1 - pathogenic (recessive) g.83932808dup - 59dupC - MLYCD_000041 - PubMed: Wightman 2003 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD San1/2 PubMed: Wightman 2003 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Germany - - - - - 2 Johan den Dunnen
+/. - c.84_108del r.84_108del p.Gln31Profs*34 Both (homozygous) - pathogenic (recessive) g.83932833_83932857del - - - MLYCD_000048 - PubMed: Wightman 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD Yan1 PubMed: Yano 1997, PubMed: Wightman 2003 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.119T>C r.119u>c p.Met40Thr Both (homozygous) - pathogenic (recessive) g.83932868T>C - - - MLYCD_000046 - PubMed: Wightman 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD Mat1 PubMed: Matalon 1993, PubMed: Wightman 2003 - M - United States - - - - - 1 Johan den Dunnen
-?/. - c.135C>T r.(?) p.(Arg45=) Unknown - likely benign g.83932884C>T - MLYCD(NM_012213.2):c.135C>T (p.R45=) - MLYCD_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.197del r.(?) p.(Gly66Valfs*7) Both (homozygous) - pathogenic (recessive) g.83932946del - 197delG - MLYCD_000051 - PubMed: Footitt 2010 - - Germline - - - - - DNA SEQ - - MLYCDD patient PubMed: Footitt 2010 - F yes United Kingdom (Great Britain) Asia - - - - 1 Johan den Dunnen
-?/. - c.206C>T r.(?) p.(Ala69Val) Unknown - likely benign g.83932955C>T g.83899350C>T MLYCD(NM_012213.2):c.206C>T (p.(Ala69Val)), MLYCD(NM_012213.3):c.206C>T (p.A69V) - MLYCD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206C>T r.(?) p.(Ala69Val) Unknown - VUS g.83932955C>T g.83899350C>T MLYCD(NM_012213.2):c.206C>T (p.(Ala69Val)), MLYCD(NM_012213.3):c.206C>T (p.A69V) - MLYCD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.206C>T r.(?) p.(Ala69Val) Unknown - likely benign g.83932955C>T g.83899350C>T MLYCD(NM_012213.2):c.206C>T (p.(Ala69Val)), MLYCD(NM_012213.3):c.206C>T (p.A69V) - MLYCD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.206C>T r.206c>u p.Ala69Val Parent #1 - pathogenic (recessive) g.83932955C>T - - - MLYCD_000003 no variant 2nd chromosome PubMed: Wightman 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD Rib1 PubMed: Wightman 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - 1 Johan den Dunnen
-?/. - c.248A>G r.(?) p.(Gln83Arg) Unknown - likely benign g.83932997A>G g.83899392A>G - - MLYCD_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296A>G r.(?) p.(His99Arg) Unknown - VUS g.83933045A>G g.83899440A>G MLYCD(NM_012213.2):c.296A>G (p.(His99Arg)) - MLYCD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.346C>T r.(?) p.(Gln116*) Both (homozygous) ACMG pathogenic (recessive) g.83933095C>T - - - MLYCD_000068 - Snanoudj et al., submitted (2021) - - Germline yes - - - - DNA SEQ blood - MLYCDD - Snanoudj et al., submitted (2021) - M yes Morocco - - - - - 1 Sarah Snanoudj
+?/. - c.365T>C r.(?) p.(Leu122Pro) Parent #1 - likely pathogenic (recessive) g.83933114T>C g.83899509T>C - - MLYCD_000054 - PubMed: Chapel-Crespo 2019 - - Germline - - - - - DNA SEQ - - MLYCDD Pat4 PubMed: Chapel-Crespo 2019 - M - - white - - - - 1 Johan den Dunnen
?/. - c.382C>T r.(?) p.(Arg128Trp) Unknown - VUS g.83933131C>T - MLYCD(NM_012213.3):c.382C>T (p.(Arg128Trp)) - MLYCD_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.393C>G r.393c>g p.Tyr131* Both (homozygous) - pathogenic (recessive) g.83933142C>G - - - MLYCD_000049 - PubMed: Wightman 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD Kra1 PubMed: Wightman 2003 - M - - - - - - - 1 Johan den Dunnen
?/. - c.394G>A r.(?) p.(Ala132Thr) Unknown - VUS g.83933143G>A g.83899538G>A MLYCD(NM_012213.2):c.394G>A (p.(Ala132Thr)) - MLYCD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.444C>T r.(?) p.(Asp148=) Unknown - benign g.83933193C>T g.83899588C>T MLYCD(NM_012213.3):c.444C>T (p.D148=) - MLYCD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.475del r.475del p.Ala159Profs*20 Both (homozygous) - pathogenic (recessive) g.83933224del - 475delG - MLYCD_000045 - PubMed: Wightman 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD Haa1 PubMed: Wightman 2003 - M - Australia - - - - - 1 Johan den Dunnen
-?/. - c.481C>T r.(?) p.(Leu161=) Unknown - likely benign g.83933230C>T g.83899625C>T MLYCD(NM_012213.3):c.481C>T (p.L161=) - MLYCD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.481del r.(?) P.(Leu161CysfsTer18) Both (homozygous) - pathogenic (recessive) g.83933230del g.83899625del c481delC - MLYCD_000055 - PubMed: Salomons 2007 - - Germline - - - - - DNA SEQ - - MLYCDD Pat4 PubMed: Salomons 2007 - F yes - - - - - - 1 Johan den Dunnen
+/. - c.482T>C r.(?) p.(Leu161Pro) Parent #1 - pathogenic (recessive) g.83933231T>C - - - MLYCD_000044 no variant 2nd chromosome PubMed: Wightman 2003 - - Germline - - - - - DNA SEQ - - MLYCDD Dou1 PubMed: Wightman 2003 - M - - - - - - - 1 Johan den Dunnen
?/. - c.482T>C r.(?) p.(Leu161Pro) Both (homozygous) - VUS g.83933231T>C g.83899626T>C - - MLYCD_000044 - PubMed: Wang 2019 - - Germline - 2/2 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 2 Johan den Dunnen
-/. - c.528+19T>C r.(=) p.(=) Unknown - benign g.83933296T>C g.83899691T>C MLYCD(NM_012213.3):c.528+19T>C - MLYCD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.528+19T>C r.(=) p.(=) Unknown - benign g.83933296T>C g.83899691T>C MLYCD(NM_012213.3):c.528+19T>C - MLYCD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.529-8C>T r.(=) p.(=) Unknown - benign g.83940584C>T g.83906979C>T MLYCD(NM_012213.3):c.529-8C>T - MLYCD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529-8C>T r.(=) p.(=) Parent #1 - likely benign g.83940584C>T g.83906979C>T - - MLYCD_000007 187 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3815806 Germline - 187/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 187 Mohammed Faruq
-?/. - c.529-8C>T r.(=) p.(=) Both (homozygous) - likely benign g.83940584C>T g.83906979C>T - - MLYCD_000007 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3815806 Germline - 3/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.529-8C>T r.(=) p.(=) Unknown - likely benign g.83940584C>T - MLYCD(NM_012213.3):c.529-8C>T - MLYCD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.541G>A r.(?) p.(Val181Met) Unknown - benign g.83940604G>A g.83906999G>A MLYCD(NM_012213.2):c.541G>A (p.(Val181Met)), MLYCD(NM_012213.3):c.541G>A (p.V181M) - MLYCD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.541G>A r.(?) p.(Val181Met) Unknown - VUS g.83940604G>A g.83906999G>A MLYCD(NM_012213.2):c.541G>A (p.(Val181Met)), MLYCD(NM_012213.3):c.541G>A (p.V181M) - MLYCD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.541G>A r.(?) p.(Val181Met) Parent #1 - benign g.83940604G>A g.83906999G>A - - MLYCD_000008 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147617160 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
+/. - c.560C>G r.(?) p.(Ser187*) Both (homozygous) - pathogenic (recessive) g.83940623C>G g.83907018C>G 442C>G - MLYCD_000038 - PubMed: FitzPatrick 1999 - rs104894528 Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MLYCDD Pat2 PubMed: MacPhee 1993, PubMed: FitzPatrick 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Scotland - - - - - 1 Johan den Dunnen
+/. - c.560C>G r.(?) P.(Ser187Ter) Paternal (confirmed) - pathogenic (recessive) g.83940623C>G g.83907018C>G - - MLYCD_000038 - PubMed: Salomons 2007 - - Germline - - - - - DNA MLPA, SEQ - - MLYCDD Pat1 PubMed: Salomons 2007 - M - - - - - - - 1 Johan den Dunnen
+/. - c.634dup r.634dup p.Ile212Asnfs*3 Parent #2 - pathogenic (recessive) g.83940697dup - 634dupA - MLYCD_000042 - PubMed: Wightman 2003 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD San1/2 PubMed: Wightman 2003 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Germany - - - - - 2 Johan den Dunnen
+/. - c.640_641+2del r.639_642del p.fs Both (homozygous) - pathogenic (recessive) g.83940703_83940706del - 638–641delGTGA - MLYCD_000039 - PubMed: Gao 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD patient PubMed: Gao 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - 1 Johan den Dunnen
+/. - c.640_641+2del r.spl p.(Glu214Glyfs*2) Both (homozygous) - pathogenic (recessive) g.83940703_83940706del g.83907098_83907101del - - MLYCD_000039 - PubMed: Chapel-Crespo 2019 - - Germline - - - - - DNA SEQ - - MLYCDD Pat2 PubMed: Chapel-Crespo 2019 - M - Mexico - - - - - 1 Johan den Dunnen
+?/. - c.641+4_641+7del r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.83940708_83940711del g.83907103_83907106del - - MLYCD_000056 - PubMed: Chapel-Crespo 2019 - - Germline - - - - - DNA SEQ - - MLYCDD Pat6 PubMed: Chapel-Crespo 2019 - M - United States white;native American;Mexico - - - - 1 Johan den Dunnen
-/. - c.642-12A>T r.(=) p.(=) Unknown - benign g.83941719A>T g.83908114A>T MLYCD(NM_012213.3):c.642-12A>T - MLYCD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.642-5C>T r.spl? p.? Unknown - benign g.83941726C>T g.83908121C>T MLYCD(NM_012213.3):c.642-5C>T - MLYCD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.642-5C>T r.spl? p.? Unknown - benign g.83941726C>T g.83908121C>T MLYCD(NM_012213.3):c.642-5C>T - MLYCD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.642-5C>T r.spl? p.? Unknown - benign g.83941726C>T g.83908121C>T MLYCD(NM_012213.3):c.642-5C>T - MLYCD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.642-5C>T r.spl? p.? Parent #1 - likely benign g.83941726C>T g.83908121C>T - - MLYCD_000010 139 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2278037 Germline - 139/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 139 Mohammed Faruq
-?/. - c.642-5C>T r.spl? p.? Both (homozygous) - likely benign g.83941726C>T g.83908121C>T - - MLYCD_000010 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2278037 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. 2i c.642-5C>T r.641_642ins[641+1_642-6;uccag] p.? Unknown - pathogenic g.83941726C>T - IVS2-5C>T - MLYCD_000010 no variant 2nd chromosome PubMed: Surendran 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD patient PubMed: Surendran 2001 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.685C>T r.(?) p.(Arg229Cys) Unknown - VUS g.83941774C>T - MLYCD(NM_012213.2):c.685C>T (p.(Arg229Cys)) - MLYCD_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.729_731dup r.(?) p.(Ser244dup) Unknown - VUS g.83941818_83941820dup - MLYCD(NM_012213.3):c.729_731dup (p.(Ser244dup)) - MLYCD_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.732G>A r.(?) p.(Ser244=) Unknown - benign g.83941821G>A g.83908216G>A MLYCD(NM_012213.3):c.732G>A (p.S244=) - MLYCD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.769C>T r.(?) p.(Leu257=) Unknown - likely benign g.83941858C>T - MLYCD(NM_012213.2):c.769C>T (p.L257=) - MLYCD_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.772_775del r.772_775del p.Thr258Valfs*11 Maternal (confirmed) - pathogenic (recessive) g.83941861_83941864del - 772–775delACTG - MLYCD_000050 - PubMed: Malvagia 2007 - - Germline - - - - - DNA, RNA arraySNP, RT-PCR, SEQ - - MLYCDD patient PubMed: Malvagia 2007 - M no Italy - - - - - 1 Johan den Dunnen
+/. - c.772_775del r.772_775del p.Thr258Valfs*11 Maternal (confirmed) - pathogenic (recessive) g.83941861_83941864del - 772–775delACTG - MLYCD_000050 - PubMed: Malvagia 2007 - - Uniparental disomy, maternal allele - - - - - DNA, RNA arraySNP, RT-PCR, SEQ - - MLYCDD patient PubMed: Malvagia 2007 - M no Italy - - - - - 1 Johan den Dunnen
-/. - c.776G>C r.(?) p.(Gly259Ala) Unknown - benign g.83941865G>C g.83908260G>C MLYCD(NM_012213.3):c.776G>C (p.G259A) - MLYCD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.796C>T r.(?) P.(Gln266Ter) Both (homozygous) - pathogenic (recessive) g.83941885C>T g.83908280C>T - - MLYCD_000057 - PubMed: Salomons 2007 - - Germline - - - - - DNA SEQ - - MLYCDD Pat2 PubMed: Salomons 2007 family, 2 affected M - - - - - - - 2 Johan den Dunnen
+/. - c.796C>T r.(?) P.(Gln266Ter) Both (homozygous) - pathogenic (recessive) g.83941885C>T g.83908280C>T - - MLYCD_000057 - PubMed: Salomons 2007 - - Germline - - - - - DNA SEQ - - MLYCDD Pat3 PubMed: Salomons 2007 sib M - - - - - - - 1 Johan den Dunnen
+/. - c.799-1683_949-1293del r.? p.? Both (homozygous) - pathogenic (recessive) g.83944140_83947268del g.83910535_83913663del 799-1683_949-1293del3128 - MLYCD_000058 - PubMed: Salomons 2007 - - Germline - - - - - DNA MLPA, SEQ - - MLYCDD Pat9 PubMed: Salomons 2007 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.799-20C>T r.(=) p.(=) Unknown - likely benign g.83945803C>T g.83912198C>T - - MLYCD_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.799-16C>T r.(=) p.(=) Unknown - benign g.83945807C>T g.83912202C>T MLYCD(NM_012213.3):c.799-16C>T - MLYCD_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.799-16C>T r.(=) p.(=) Unknown - likely benign g.83945807C>T g.83912202C>T MLYCD(NM_012213.3):c.799-16C>T - MLYCD_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.799-3C>G r.spl p.? Parent #2 - likely pathogenic (recessive) g.83945820C>G g.83912215C>G - - MLYCD_000059 - PubMed: Chapel-Crespo 2019 - - Germline - - - - - DNA SEQ - - MLYCDD Pat7 PubMed: Chapel-Crespo 2019 - M - Nigeria - - - - - 1 Johan den Dunnen
?/. - c.896A>G r.(?) p.(Gln299Arg) Unknown - VUS g.83945920A>G g.83912315A>G MLYCD(NM_012213.3):c.896A>G (p.(Gln299Arg)) - MLYCD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.899G>T r.(?) P.(Gly300Val) Parent #1 - likely pathogenic (recessive) g.83945923G>T g.83912318G>T - - MLYCD_000060 - PubMed: Salomons 2007 - - Germline - - - - - DNA SEQ - - MLYCDD Pat8 PubMed: Salomons 2007 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.929G>C r.(?) p.(Arg310Pro) Both (homozygous) - likely pathogenic (recessive) g.83945953G>C g.83912348G>C - - MLYCD_000061 - PubMed: Chapel-Crespo 2019 - - Germline - - - - - DNA SEQ - - MLYCDD Pat8 PubMed: Chapel-Crespo 2019 - F yes - Middle Eastern - - - - 1 Johan den Dunnen
+?/. - c.940G>T r.(?) p.(Glu314Ter) Unknown - likely pathogenic g.83945964G>T g.83912359G>T MLYCD(NM_012213.3):c.940G>T (p.(Glu314*)) - MLYCD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.949-14A>G r.948_949ins949-13_949-1 p.fs Both (homozygous) - pathogenic (recessive) g.83948547A>G g.83914942A>G - - MLYCD_000037 - PubMed: FitzPatrick 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - MLYCDD Pat1 PubMed: MacPhee 1993, PubMed: FitzPatrick 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Scotland - - - - - 1 Johan den Dunnen
+/. - c.949-14A>G r.spl P.? Both (homozygous) - pathogenic (recessive) g.83948547A>G g.83914942A>G - - MLYCD_000037 - PubMed: Salomons 2007 - - Germline - - - - - DNA SEQ - - MLYCDD Pat7 PubMed: Salomons 2007 - F yes - - - - - - 1 Johan den Dunnen
?/. - c.988C>G r.(?) p.(Pro330Ala) Unknown - VUS g.83948600C>G g.83914995C>G - - MLYCD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1013T>C r.(?) p.(Leu338Pro) Both (homozygous) - VUS g.83948625T>C - - - MLYCD_000031 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MLYCDD M009 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
-?/. - c.1044G>T r.(?) p.(Glu348Asp) Unknown - likely benign g.83948656G>T g.83915051G>T MLYCD(NM_012213.3):c.1044G>T (p.E348D) - MLYCD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1059dup r.[(1057_1058insa),spl] p.[(Leu354Thrfs*80),?] Both (homozygous) - pathogenic (recessive) g.83948671dup g.83915066dup c.1057_1058insA - MLYCD_000029 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR61Pat1 PubMed: Santos-Cortez 2018 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.1059dup r.[(1057_1058insa),spl] p.[(Leu354Thrfs*80),?] Both (homozygous) - pathogenic (recessive) g.83948671dup g.83915066dup c.1057_1058insA - MLYCD_000029 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMR61Pat2 PubMed: Santos-Cortez 2018 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1064_1065del r.1064_1065del p.Phe355Tyrfs*6 Parent #1 - pathogenic (recessive) g.83948676_83948677del - 947–948delTT - MLYCD_000040 - PubMed: Sacksteder 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD MA002 PubMed: Sacksteder 1999 - - no - - - - - - 1 Johan den Dunnen
+?/. - c.1073C>A r.(?) p.(Ser358*) Unknown - likely pathogenic g.83948685C>A - - - MLYCD_000032 - PubMed: Neubauer 2021 - - Unknown - - - - - DNA SEQ-NG - - SUD SUDS112 PubMed: Neubauer 2021 - F - Switzerland Europe 33y - - - 1 Cordula Haas
-?/. - c.1074G>A r.(?) p.(Ser358=) Unknown - likely benign g.83948686G>A g.83915081G>A MLYCD(NM_012213.3):c.1074G>A (p.S358=) - MLYCD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1098C>T r.(?) p.(Ile366=) Unknown - likely benign g.83948710C>T - MLYCD(NM_012213.2):c.1098C>T (p.I366=) - MLYCD_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1133T>A r.(?) p.(Leu378His) Unknown - VUS g.83948745T>A - MLYCD(NM_012213.3):c.1133T>A (p.(Leu378His)) - MLYCD_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1151_1159del r.1151_1159del p.Trp384_Gln386del Both (homozygous) - pathogenic (recessive) g.83948763_83948771del - - - MLYCD_000043 - PubMed: Wightman 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MLYCDD San3 PubMed: Wightman 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.1152G>T r.(?) p.(Trp384Cys) Parent #2 - pathogenic (recessive) g.83948764G>T g.83915159G>T - - MLYCD_000063 - PubMed: Chapel-Crespo 2019 - - Germline - - - - - DNA SEQ - - MLYCDD Pat4 PubMed: Chapel-Crespo 2019 - M - - white - - - - 1 Johan den Dunnen
-?/. - c.1175G>A r.(?) p.(Arg392Gln) Unknown - likely benign g.83948787G>A g.83915182G>A MLYCD(NM_012213.3):c.1175G>A (p.R392Q) - MLYCD_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236C>T r.(?) p.(Arg412=) Unknown - likely benign g.83948848C>T - MLYCD(NM_012213.2):c.1236C>T (p.R412=) - MLYCD_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1242C>T r.(?) p.(Tyr414=) Unknown - likely benign g.83948854C>T g.83915249C>T - - MLYCD_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1319G>T r.(?) P.(Ser440Ile) Parent #1 - likely pathogenic (recessive) g.83948931G>T g.83915326G>T - - MLYCD_000064 - PubMed: Salomons 2007 - - Germline - - - - - DNA SEQ - - MLYCDD Pat6 PubMed: Salomons 2007 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1358A>G r.(?) p.(Asn453Ser) Unknown - VUS g.83948970A>G - MLYCD(NM_012213.3):c.1358A>G (p.(Asn453Ser)) - MLYCD_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1367A>C r.(?) P.(Tyr456Ser) Unknown - likely pathogenic (recessive) g.83948979A>C g.83915374A>C - - MLYCD_000065 - PubMed: Salomons 2007 - - Germline - - - - - DNA SEQ - - MLYCDD Pat6 PubMed: Salomons 2007 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.1420A>G r.(?) p.(Ile474Val) Unknown - likely benign g.83949032A>G - MLYCD(NM_012213.2):c.1420A>G (p.I474V) - MLYCD_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1430C>T r.(?) P.(Ser477Phe) Unknown - likely pathogenic (recessive) g.83949042C>T g.83915437C>T - - MLYCD_000066 - PubMed: Salomons 2007 - - Germline - - - - - DNA SEQ - - MLYCDD Pat8 PubMed: Salomons 2007 - F - - - - - - - 1 Johan den Dunnen
?/. - c.1433A>G r.(?) p.(Glu478Gly) Unknown - VUS g.83949045A>G g.83915440A>G MLYCD(NM_012213.2):c.1433A>G (p.(Glu478Gly)) - MLYCD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1472G>T r.(?) p.(Ser491Ile) Unknown - VUS g.83949084G>T - MLYCD(NM_012213.3):c.1472G>T (p.(Ser491Ile)) - MLYCD_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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