Full data view for gene MMACHC

Information The variants shown are described using the NM_015506.2 transcript reference sequence.

117 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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.-103943_*536033dup r.0? p.0? Both (homozygous) - likely pathogenic g.45862062_46510920dup - POMGNT1 - MMACHC_000047 heterozygous, both parents wild type; t(2;14)(q37.3;q13) with duplication in chromosome 1p34.1 PubMed: Hanemaaijer 2009 - - De novo yes - - - - DNA arrayCGH, FISH, SEQ blood - ? ? PubMed: Hanemaaijer 2009 - M - - - - - - - 1 LOVD
-/. _1 - r.(=) p.(=) Parent #1 - benign g.45965703G>T - -302G>T - MMACHC_000038 - PubMed: Guéant 2018 - rs3748643 Germline - - - - - DNA SEQ - - MAHCC WG-4152 PubMed: Guéant 2018 - M - - white >59y - - - 1 Johan den Dunnen
-/. _1 - r.0 p.0 Paternal (confirmed) - benign g.45965703G>T g.45500031G>T -302G>T - MMACHC_000038 - - - rs3748643 Germline - - - - - DNA SEQ - - MAHCC WG-3838 PubMed: Guéant 2018 - F - Japan;Korea - 00y02m - - - 1 Johan den Dunnen
-/. _1 - r.(=) p.(=) Maternal (confirmed) - benign g.45965703G>T g.45500031G>T -302G>T - MMACHC_000038 - PubMed: Guéant 2018 - rs3748643 Germline - - - - - DNA SEQ - - MAHCC CHU-12122 PubMed: Guéant 2018 - F - - white 00y01m - - - 1 Johan den Dunnen
+/. - - r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.45977087C>A g.45511415C>A - - PRDX1_000001 variant silences 2 flanking transcripts PubMed: Guéant 2018 - - Germline - - - - - DNA SEQ - - MAHCC CHU-12122 PubMed: Guéant 2018 - F - - white 00y01m - - - 1 Johan den Dunnen
+/. - - r.0 p.0 Parent #2 - pathogenic (recessive) g.45977087C>A g.45511415C>A - - PRDX1_000001 variant silences 2 flanking transcripts PubMed: Guéant 2018 - - Germline - - - - - DNA SEQ - - MAHCC WG-4152 PubMed: Guéant 2018 - M - - white >59y - - - 1 Johan den Dunnen
+/. - - r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.45977088T>A g.45511416T>A - - PRDX1_000002 variant silences 2 flanking transcripts PubMed: Guéant 2018 - - Germline yes - - - - DNA SEQ - - MAHCC WG-3838 PubMed: Guéant 2018 - F - Japan;Korea - 00y02m - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.45966005A>G - MMACHC(NM_015506.3):c.1A>G (p.M1?) - MMACHC_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.45966005A>G - MMACHC(NM_015506.3):c.1A>G (p.M1?) - MMACHC_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3G>A r.(?) p.(Met1?) Parent #1 - pathogenic g.45966007G>A g.45500335G>A - - MMACHC_000026 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs779893448 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.8C>G r.(?) p.(Pro3Arg) Unknown - VUS g.45966012C>G g.45500340C>G MMACHC(NM_015506.3):c.8C>G (p.P3R) - MMACHC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.47T>C r.(?) p.(Leu16Pro) Unknown - VUS g.45966051T>C g.45500379T>C MMACHC(NM_015506.2):c.47T>C (p.(Leu16Pro)) - MMACHC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>T r.(?) p.(Val23Phe) Unknown - VUS g.45966071G>T g.45500399G>T MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F) - MMACHC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>T r.(?) p.(Val23Phe) Unknown - VUS g.45966071G>T g.45500399G>T MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F) - MMACHC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>T r.(?) p.(Val23Phe) Unknown - VUS g.45966071G>T - MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F) - MMACHC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>T r.(?) p.(Val23Phe) Unknown - VUS g.45966071G>T - MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F) - MMACHC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.80A>G r.(?) p.(Gln27Arg) Parent #2 - likely pathogenic g.45966084A>G - - - MMACHC_000034 - - - - Germline - - - - - DNA SEQ-NG - - MAHCC 92 - - M - China - - - - - 1 Sha Hong
+/. - c.81G>A r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.45966085G>A g.45500413G>A - - MMACHC_000036 - PubMed: Guéant 2018 - - Germline - - - - - DNA SEQ - - MAHCC WG-3838 PubMed: Guéant 2018 - F - Japan;Korea - 00y02m - - - 1 Johan den Dunnen
+?/. - c.82-2A>G r.(?) p.(?) Unknown - likely pathogenic g.45973026A>G g.45507354A>G MMACHC(NM_015506.2):c.82-2A>G/c.463G>C(p.G155R) - MMACHC_000048 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 211 - - - DNA SEQ-NG-I blood - ? WHP111 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
?/. - c.82G>A r.(?) p.(Val28Met) Unknown - VUS g.45973028G>A - MMACHC(NM_001330540.1):c.-90G>A (p.(=)) - MMACHC_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>A r.(?) p.(Pro42=) Unknown - likely benign g.45973072G>A g.45507400G>A MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=) - MMACHC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>A r.(?) p.(Pro42=) Unknown - likely benign g.45973072G>A g.45507400G>A MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=) - MMACHC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>A r.(?) p.(Pro42=) Unknown - likely benign g.45973072G>A - MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=) - MMACHC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>A r.(?) p.(Pro42=) Unknown - likely benign g.45973072G>A - MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=) - MMACHC_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145G>T r.(?) p.(Ala49Ser) Unknown - VUS g.45973091G>T - MMACHC(NM_015506.2):c.145G>T (p.A49S) - MMACHC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.157C>T r.(?) p.(Leu53Phe) Unknown - VUS g.45973103C>T g.45507431C>T MMACHC(NM_015506.2):c.157C>T (p.(Leu53Phe)) - MMACHC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.158T>C r.(?) p.(Leu53Pro) Parent #1 - pathogenic (recessive) g.45973104T>C g.45507432T>C - - MMACHC_000037 - PubMed: Guéant 2018 - - Germline - - - - - DNA SEQ - - MAHCC WG-4152 PubMed: Guéant 2018 - M - - white >59y - - - 1 Johan den Dunnen
-?/. - c.165G>A r.(?) p.(=) Unknown - likely benign g.45973111G>A - MMACHC(NM_015506.3):c.165G>A (p.(Thr55=)) - MMACHC_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.178G>C r.(?) p.(Asp60His) Unknown - benign g.45973124G>C g.45507452G>C MMACHC(NM_001330540.1):c.7G>C (p.(Asp3His)), MMACHC(NM_015506.3):c.178G>C (p.D60H) - MMACHC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.178G>C r.(?) p.(Asp60His) Unknown - benign g.45973124G>C - MMACHC(NM_001330540.1):c.7G>C (p.(Asp3His)), MMACHC(NM_015506.3):c.178G>C (p.D60H) - MMACHC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181C>T r.(?) p.(Arg61Trp) Unknown - likely benign g.45973127C>T g.45507455C>T MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W) - MMACHC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181C>T r.(?) p.(Arg61Trp) Unknown - VUS g.45973127C>T g.45507455C>T MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W) - MMACHC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181C>T r.(?) p.(Arg61Trp) Unknown - VUS g.45973127C>T g.45507455C>T MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W) - MMACHC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181C>T r.(?) p.(Arg61Trp) Unknown - VUS g.45973127C>T g.45507455C>T MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W) - MMACHC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.217C>T r.(?) p.(Arg73*) Parent #1 - pathogenic (recessive) g.45973163C>T - - - MMACHC_000031 - - - - Germline - - - - - DNA SEQ-NG - - ? 15 - - M - China - - - - - 1 Sha Hong
?/. - c.271dup r.(?) p.(Arg91Lysfs*14) Unknown - VUS g.45973217dup g.45507545dup - - MMACHC_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.271dup r.(?) p.(Arg91Lysfs*14) Unknown - VUS g.45973217dup g.45507545dup - - MMACHC_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) Unknown - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) Unknown - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) Unknown - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) Unknown - pathogenic g.45973217dup g.45507545dup MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...) - MMACHC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271dup r.271dup p.Arg91Lysfs*14 Maternal (confirmed) - pathogenic (recessive) g.45973217dup g.45507545dup 270_271insA - MMACHC_000001 - PubMed: Guéant 2018 - - Germline - - - - - DNA SEQ - - MAHCC CHU-12122 PubMed: Guéant 2018 - F - - white 00y01m - - - 1 Johan den Dunnen
+?/. - c.271dup r.(?) p.(Arg91LysfsTer14) Both (homozygous) - likely pathogenic g.45973217dup g.45507545dup - - MMACHC_000001 - PubMed: Nair 2018 - rs398124292 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Nair 2018 patient - - Lebanon - - - - - 1 Johan den Dunnen
+/. - c.271dup r.(?) p.(Arg91LysfsTer14) Unknown - pathogenic g.45973217dup - MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...) - MMACHC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.276G>T r.(?) p.(Glu92Asp) Unknown - likely pathogenic g.45973222G>T g.45507550G>T MMACHC(NM_015506.2):c.276G>T (p.E92D) - MMACHC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276+6del r.(=) p.(=) Unknown - likely benign g.45973228del g.45507556del MMACHC(NM_015506.3):c.276+6delG - MMACHC_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276+17T>A r.(=) p.(=) Unknown - likely benign g.45973239T>A - MMACHC(NM_015506.2):c.276+17T>A - MMACHC_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277-8_277-3dup r.spl? p.? Unknown - likely benign g.45973876_45973881dup - MMACHC(NM_001330540.1):c.106-8_106-3dup (p.?) - MMACHC_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277-4C>G r.spl? p.? Unknown - likely benign g.45973880C>G - MMACHC(NM_001330540.1):c.106-4C>G (p.?) - MMACHC_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - VUS g.45973923G>A g.45508251G>A MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys)) - MMACHC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - VUS g.45973923G>A g.45508251G>A MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys)) - MMACHC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - VUS g.45973923G>A g.45508251G>A MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys)) - MMACHC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - likely benign g.45973923G>A - MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys)) - MMACHC_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321G>A r.(?) p.(Val107=) Unknown - benign g.45973928G>A g.45508256G>A MMACHC(NM_015506.3):c.321G>A (p.V107=) - MMACHC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321G>A r.(?) p.(Val107=) Unknown - benign g.45973928G>A g.45508256G>A MMACHC(NM_015506.3):c.321G>A (p.V107=) - MMACHC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321G>A r.(?) p.(Val107=) Unknown - benign g.45973928G>A g.45508256G>A MMACHC(NM_015506.3):c.321G>A (p.V107=) - MMACHC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.331C>T r.(?) p.(Arg111Ter) Parent #1 - pathogenic (recessive) g.45973938C>T g.45508266C>T - - MMACHC_000052 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
?/. - c.332G>A r.(?) p.(Arg111Gln) Unknown - VUS g.45973939G>A - MMACHC(NM_001330540.1):c.161G>A (p.(Arg54Gln)) - MMACHC_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334C>T r.(?) p.(Arg112Cys) Unknown - VUS g.45973941C>T - MMACHC(NM_015506.3):c.334C>T (p.(Arg112Cys)) - MMACHC_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.347T>C r.(?) p.(Leu116Pro) Parent #1 - likely pathogenic g.45973954T>C g.45508282T>C - - MMACHC_000027 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918240 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.347T>C r.(?) p.(Leu116Pro) Both (homozygous) - likely pathogenic g.45973954T>C g.45508282T>C - - MMACHC_000027 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat50 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/. - c.388T>C r.(?) p.(Tyr130His) Unknown - pathogenic g.45973995T>C - MMACHC(NM_015506.2):c.388T>C (p.(Tyr130His)) - MMACHC_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.389A>G r.(?) p.(Tyr130Cys) Unknown - likely pathogenic g.45973996A>G - MMACHC(NM_001330540.1):c.218A>G (p.Y73C), MMACHC(NM_015506.2):c.389A>G (p.Y130C) - MMACHC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.389A>G r.(?) p.(Tyr130Cys) Unknown - VUS g.45973996A>G - MMACHC(NM_001330540.1):c.218A>G (p.Y73C), MMACHC(NM_015506.2):c.389A>G (p.Y130C) - MMACHC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.389A>G r.(?) p.(Tyr130Cys) Unknown - pathogenic g.45973996A>G - MMACHC(NM_001330540.1):c.218A>G (p.Y73C), MMACHC(NM_015506.2):c.389A>G (p.Y130C) - MMACHC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.394C>T r.(?) p.(Arg132*) Parent #1 - pathogenic g.45974001C>T g.45508329C>T - - MMACHC_000028 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121918241 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.394C>T r.(?) p.(Arg132*) Parent #2 - pathogenic (recessive) g.45974001C>T g.45508329C>T - - MMACHC_000028 - - - - Germline - - - - - DNA SEQ-NG - - ? 21 - - F - China - - - - - 1 Sha Hong
+/. 3 c.394C>T r.(?) p.(Arg132Ter) Both (homozygous) - pathogenic g.45974001C>T g.45508329C>T - - MMACHC_000028 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5406 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.394C>T r.(?) p.(Arg132Ter) Unknown - pathogenic g.45974001C>T g.45508329C>T - - MMACHC_000028 - PubMed: Wang 2019 - - Germline - 1/20 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
+/. - c.394C>T r.(?) p.(Arg132*) Unknown - pathogenic g.45974001C>T - MMACHC(NM_015506.2):c.394C>T (p.R132*) - MMACHC_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405G>A r.(?) p.(Val135=) Unknown - likely benign g.45974012G>A g.45508340G>A MMACHC(NM_001330540.1):c.234G>A (p.V78=) - MMACHC_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433A>G r.(?) p.(Ile145Val) Unknown - VUS g.45974471A>G g.45508799A>G MMACHC(NM_001330540.1):c.262A>G (p.(Ile88Val)) - MMACHC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433A>G r.(?) p.(Ile145Val) Unknown - VUS g.45974471A>G g.45508799A>G MMACHC(NM_001330540.1):c.262A>G (p.(Ile88Val)) - MMACHC_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433A>T r.(?) p.(Ile145Leu) Unknown - likely benign g.45974471A>T - MMACHC(NM_001330540.1):c.262A>T (p.(Ile88Leu)), MMACHC(NM_001330540.2):c.262A>T (p.I88L), MMACHC(NM_015506.2):c.433A>T (p.I145L) - MMACHC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433A>T r.(?) p.(Ile145Leu) Unknown - VUS g.45974471A>T - MMACHC(NM_001330540.1):c.262A>T (p.(Ile88Leu)), MMACHC(NM_001330540.2):c.262A>T (p.I88L), MMACHC(NM_015506.2):c.433A>T (p.I145L) - MMACHC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.433A>T r.(?) p.(Ile145Leu) Unknown - likely benign g.45974471A>T - MMACHC(NM_001330540.1):c.262A>T (p.(Ile88Leu)), MMACHC(NM_001330540.2):c.262A>T (p.I88L), MMACHC(NM_015506.2):c.433A>T (p.I145L) - MMACHC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.440G>C r.(?) p.(Gly147Ala) Unknown - pathogenic g.45974478G>C g.45508806G>C MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.440G>C r.(?) p.(Gly147Ala) Unknown - likely pathogenic g.45974478G>C g.45508806G>C MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.440G>C r.(?) p.(Gly147Ala) Unknown - likely pathogenic g.45974478G>C - MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.440G>C r.(?) p.(Gly147Ala) Unknown - pathogenic (recessive) g.45974478G>C g.45508806G>C - - MMACHC_000009 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - c.440G>C r.(?) p.(Gly147Ala) Unknown - pathogenic g.45974478G>C - MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.440G>C r.(?) p.(Gly147Ala) Unknown - pathogenic g.45974478G>C - MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A) - MMACHC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458G>C r.(?) p.(Arg153Pro) Unknown - VUS g.45974496G>C - MMACHC(NM_015506.2):c.458G>C (p.(Arg153Pro)) - MMACHC_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.463G>C r.(?) p.(Gly155Arg) Unknown - likely pathogenic g.45974501G>C g.45508829G>C MMACHC(NM_015506.2):c.82-2A>G/c.463G>C(p.G155R) - MMACHC_000049 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 211 - - - DNA SEQ-NG-I blood - ? WHP111 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
?/. - c.472T>C r.(?) p.(Phe158Leu) Unknown - VUS g.45974510T>C g.45508838T>C MMACHC(NM_015506.2):c.472T>C (p.(Phe158Leu)) - MMACHC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472T>C r.(?) p.(Phe158Leu) Unknown - VUS g.45974510T>C g.45508838T>C MMACHC(NM_015506.2):c.472T>C (p.(Phe158Leu)) - MMACHC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.472T>C r.(?) p.(Phe158Leu) Both (homozygous) - likely pathogenic g.45974510T>C g.45508838T>C - - MMACHC_000010 - PubMed: Nair 2018 - rs201312386 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Nair 2018 patient - - Lebanon - - - - - 1 Johan den Dunnen
+/. - c.482G>A r.(?) p.(Arg161Gln) Unknown - pathogenic g.45974520G>A - MMACHC(NM_001330540.1):c.311G>A (p.(Arg104Gln)) - MMACHC_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.566G>A r.(?) p.(Arg189His) Unknown - pathogenic g.45974604G>A - MMACHC(NM_015506.3):c.566G>A (p.(Arg189His)) - MMACHC_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.567dup r.(?) p.(Ile190TyrfsTer13) Unknown - pathogenic g.45974605dup g.45508933dup 567dupT - MMACHC_000060 - PubMed: Wang 2019 - - Germline - 1/20 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 1 Johan den Dunnen
?/. - c.569T>C r.(?) p.(Ile190Thr) Unknown - VUS g.45974607T>C - MMACHC(NM_015506.3):c.569T>C (p.(Ile190Thr)) - MMACHC_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.584G>C r.(?) p.(Gly195Ala) Unknown - likely benign g.45974622G>C - MMACHC(NM_001330540.1):c.413G>C (p.(Gly138Ala)), MMACHC(NM_015506.2):c.584G>C (p.G195A) - MMACHC_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.584G>C r.(?) p.(Gly195Ala) Unknown - likely benign g.45974622G>C - MMACHC(NM_001330540.1):c.413G>C (p.(Gly138Ala)), MMACHC(NM_015506.2):c.584G>C (p.G195A) - MMACHC_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.609G>A r.(?) p.(Trp203*) Parent #2 - pathogenic g.45974647G>A - - - MMACHC_000032 - - - - Germline - - - - - DNA SEQ-NG - - ? 15 - - M - China - - - - - 1 Sha Hong
+/. - c.609G>A r.(?) p.(Trp203*) Parent #1 - pathogenic (recessive) g.45974647G>A g.45508975G>A - - MMACHC_000032 - - - - Germline - - - - - DNA SEQ-NG - - ? 21 - - F - China - - - - - 1 Sha Hong
+/. - c.609G>A r.(?) p.(Trp203Ter) Unknown - pathogenic g.45974647G>A g.45508975G>A - - MMACHC_000032 - PubMed: Wang 2019 - - Germline - 2/20 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 2 Johan den Dunnen
-?/. - c.631C>A r.(?) p.(Pro211Thr) Unknown - likely benign g.45974669C>A - MMACHC(NM_015506.3):c.631C>A (p.(Pro211Thr)) - MMACHC_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641G>A r.(?) p.(Arg214His) Unknown - VUS g.45974679G>A - MMACHC(NM_001330540.1):c.470G>A (p.(Arg157His)) - MMACHC_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.658_660del r.(?) p.(Lys220del) Parent #2 - pathogenic g.45974696_45974698del g.45509024_45509026del 658_660delAAG - MMACHC_000033 no variant 2nd allele reported - - - Germline - - - - - DNA SEQ-NG - - ? 24 - - M - China - - - - - 1 Sha Hong
+/. - c.658_660del r.(?) p.(Lys220del) Parent #2 - pathogenic g.45974696_45974698del - - - MMACHC_000033 - - - - Germline - - - - - DNA SEQ-NG - - MAHCC 92 - - M - China - - - - - 1 Sha Hong
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