Full data view for gene ETFDH

Information The variants shown are described using the NM_004453.2 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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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     

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?/. - c.-2771del r.(?) p.(=) Unknown - VUS g.159590838del g.158669686del C4orf46(NM_001008393.3):c.272del (p.?) - C4orf46_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2767dup r.(?) p.(=) Unknown - VUS g.159590842dup g.158669690dup C4orf46(NM_001008393.3):c.265_266insA (p.?) - C4orf46_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.35-1008T>G r.34_35ins35-1177_35-1009 p.Ala12GlyfsTer10 Paternal (confirmed) - pathogenic (recessive) g.159600611T>G g.158679459T>G - - ETFDH_000061 - Journal: Nogueira 2021 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES MADD FamPat3 Journal: Nogueira 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Portugal - - - - - 1 Johan den Dunnen
+/. 1i c.35-1008T>G r.34_35ins35-1177_35-1009 p.Ala12GlyfsTer10 Maternal (confirmed) - pathogenic (recessive) g.159600611T>G g.158679459T>G - - ETFDH_000061 - Journal: Nogueira 2021 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES MADD FamPat2 Journal: Nogueira 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Portugal - - - - - 1 Johan den Dunnen
+?/. 1i c.35-959A>G r.34_35ins35-1177_35-960 p.Ala12GlyfsTer10 Maternal (confirmed) - likely pathogenic (recessive) g.159600660A>G g.158679508A>G - - ETFDH_000060 - Journal: Martino 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES, WGS MADD patient Journal: Martino 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - 1 Johan den Dunnen
+/. 1i c.35-768A>G r.34_35ins35-1177_35-769 p.Ala12GlyfsTer10 Maternal (confirmed) - pathogenic (recessive) g.159600851A>G g.158679699A>G - - ETFDH_000062 - Journal: Nogueira 2021 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES MADD FamPat1 Journal: Nogueira 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Portugal - - - - - 1 Johan den Dunnen
+/. 1i_5i c.(34+1_35-1)_(606+1_607-1)del r.34_607del p.Ala12GlyrfsTer5 Paternal (confirmed) - pathogenic (recessive) g.(159593643_159601618)_(159606372_159611499)del g.(158672491_158680466)_(158685220_158690347)del 34_607del - ETFDH_000063 - Journal: Nogueira 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MADD FamPat4 Journal: Nogueira 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Portugal - - - - - 2 Johan den Dunnen
+?/. - c.36del r.(?) p.(Tyr13Ilefs*7) Unknown - likely pathogenic g.159601620del - ETFDH(NM_004453.4):c.36del (p.(Tyr13Ilefs*7)) - ETFDH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.65A>G r.(?) p.(Lys22Arg) Paternal (confirmed) - likely pathogenic g.159601649A>G g.158680497A>G - - ETFDH_000018 - - - - Unknown - - - - - DNA SEQ blood - - - - - - - - - - - - - 1 Daojun Hong
?/. - c.79C>T r.(?) p.(Pro27Ser) Unknown - VUS g.159601663C>T g.158680511C>T - - ETFDH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.92C>T r.(?) p.(Thr31Ile) Unknown - benign g.159601676C>T g.158680524C>T ETFDH(NM_004453.4):c.92C>T (p.T31I) - ETFDH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.92C>T r.(?) p.(Thr31Ile) Unknown - benign g.159601676C>T g.158680524C>T ETFDH(NM_004453.4):c.92C>T (p.T31I) - ETFDH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.121C>T r.(?) p.(Arg41Ter) Paternal (confirmed) - pathogenic (recessive) g.159601705C>T g.158680553C>T - - ETFDH_000064 - Journal: Nogueira 2021 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES MADD FamPat2 Journal: Nogueira 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.152G>A r.(?) p.(Arg51Gln) Unknown - pathogenic g.159601736G>A - - - ETFDH_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.152G>A r.(?) p.(Arg51Gln) Unknown - pathogenic g.159601736G>A - - - ETFDH_000057 - - - rs534388496 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.152G>A r.(?) p.(Arg51Gln) Unknown - likely pathogenic g.159601736G>A - - - ETFDH_000057 - - - rs534388496 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.158A>G r.35_175del p.0 Both (homozygous) - pathogenic g.159601742A>G g.158680590A>G - - ETFDH_000001 exon 2 skipping - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MADD - - - - yes - - 2d - - - 1 Rikke Katrine Jentoft Olsen
+?/. - c.176-636C>G r.175_176ins176-635_176-581 p.Gly59Valfs*54 Maternal (confirmed) - likely pathogenic g.159602711C>G g.158681559C>G - - ETFDH_000030 - - - - Germline - - - - - DNA, RNA SEQ, SEQ-NG-I - - MADD - - - M - - - - - - - 1 Belen Perez
+?/. - c.176-636C>G r.175_176ins176-635_176-581 p.(Gly59ValfsTer54) Parent #2 - likely pathogenic g.159602711C>G g.158681559C>G - - ETFDH_000030 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - Mendeliome panel metabolic syndrome Pat140 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/. - c.265_266del r.(?) p.(Gln89Valfs*6) Parent #1 - pathogenic g.159603436_159603437del g.158682284_158682285del - - ETFDH_000016 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+?/. 3 c.295C>T r.(?) p.(Arg99Cys) Unknown - likely pathogenic g.159603466C>T g.158682314C>T - - ETFDH_000019 - - - - De novo - - - - - DNA SEQ blood - - - - - - - - - - - - - 1 Daojun Hong
?/. - c.347G>A r.(?) p.(Gly116Glu) Unknown - VUS g.159603518G>A - ETFDH(NM_004453.4):c.347G>A (p.(Gly116Glu)) - ETFDH_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.358G>C r.(?) p.(Asp120His) Unknown ACMG likely pathogenic g.159603529G>C - - - ETFDH_000055 - - - rs376263577 Unknown ? - - - - DNA SEQ-NG - - SIDS SIDS044 - - M - Switzerland Europe 00y03m - - - 1 Cordula Haas
?/. - c.381C>T r.(=) p.(=) Parent #1 - VUS g.159603552C>T g.158682400C>T - - ETFDH_000015 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.381C>T r.(?) p.(=) Unknown - likely benign g.159603552C>T - ETFDH(NM_004453.4):c.381C>T (p.(Leu127=)) - ETFDH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.463A>G r.(?) p.(Arg155Gly) Maternal (confirmed) - pathogenic (recessive) g.159605801A>G g.158684649A>G - - ETFDH_000065 - Journal: Nogueira 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MADD FamPat4 Journal: Nogueira 2021 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Portugal - - - - - 2 Johan den Dunnen
+/. - c.473T>G r.(?) p.(Val158Gly) Parent #1 - pathogenic (recessive) g.159605811T>G g.158684659T>G - - ETFDH_000073 - PubMed: Tong 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat_13 PubMed: Tong 2018 patient M - China - - - - - 1 Johan den Dunnen
-/. - c.488-47T>C r.(=) p.(=) Parent #1 - benign g.159606206T>C g.158685054T>C - - ETFDH_000012 - - - rs190920235 Germline - MAF 0.001 - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.488-4A>G r.spl? p.? Unknown - likely benign g.159606249A>G - ETFDH(NM_004453.3):c.488-4A>G - ETFDH_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.523C>T r.(?) p.(Arg175Cys) Paternal (confirmed) - likely pathogenic g.159606288C>T g.158685136C>T - - ETFDH_000068 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - Mendeliome panel metabolic syndrome Pat85 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.524G>A r.(?) p.(Arg175His) Paternal (confirmed) - likely pathogenic g.159606289G>A g.158685137G>A - - ETFDH_000031 - - - - Germline - - - - - DNA, RNA SEQ, SEQ-NG-I - - MADD - - - M - - - - - - - 1 Belen Perez
+?/. - c.524G>A r.(?) p.(Arg175His) Parent #1 - likely pathogenic g.159606289G>A g.158685137G>A - - ETFDH_000031 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - Mendeliome panel metabolic syndrome Pat140 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
?/. - c.572G>A r.(?) p.(Gly191Asp) Parent #1 - VUS g.159606337G>A g.158685185G>A - - ETFDH_000044 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147219158 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.572G>A r.(?) p.(Gly191Asp) Unknown - likely benign g.159606337G>A - ETFDH(NM_004453.4):c.572G>A (p.(Gly191Asp)) - ETFDH_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.579A>G r.488_606del p.Leu164Profs*4 Paternal (confirmed) - pathogenic g.159606344A>G g.158685192A>G - - ETFDH_000040 RNA splicing analysis in vivo and in vitro showed that this synonymous variant caused the skipping of exon 5 in which it located. - - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood - MADD - - - F no China Han Chinese - - - - 1 Guorui Hu
+?/. - c.606+1G>A r.spl? p.? Unknown - likely pathogenic g.159606372G>A - - - ETFDH_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.679C>A r.(?) p.(Pro227Thr) Parent #1 - VUS g.159611572C>A g.158690420C>A - - ETFDH_000013 Alamut: prob. damaging (0,915); Mut.Taster: disease causing - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.731T>C r.(?) p.(Phe244Ser) Unknown - VUS g.159616695T>C - ETFDH(NM_004453.4):c.731T>C (p.(Phe244Ser)) - ETFDH_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.739G>C r.(?) p.(Gly247Arg) Unknown - VUS g.159616703G>C - - - ETFDH_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.740G>A r.(?) p.(Gly247Asp) Unknown - VUS g.159616704G>A - ETFDH(NM_004453.4):c.740G>A (p.(Gly247Asp)) - ETFDH_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.812A>G r.(?) p.(Tyr271Cys) Parent #1 - pathogenic (recessive) g.159616776A>G g.158695624A>G - - ETFDH_000074 - PubMed: Tong 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat_27 PubMed: Tong 2018 patient F - China - - - - - 1 Johan den Dunnen
-?/. - c.832-3_832-2insTTTTTTTTTTTTTTT r.spl? p.? Unknown - likely benign g.159618708_159618709insTTTTTTTTTTTTTTT - ETFDH(NM_004453.2):c.832-16_832-15insTTTTTTTTTTTTTTT (p.(=)) - ETFDH_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.832-2A>T r.spl? p.? Unknown - likely benign g.159618709A>T g.158697557A>T ETFDH(NM_004453.2):c.832-2A>T (p.?) - ETFDH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832-1G>T r.spl? p.? Unknown - VUS g.159618710G>T g.158697558G>T ETFDH(NM_004453.2):c.832-1G>T (p.?), ETFDH(NM_004453.3):c.832-1G>T - ETFDH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.832-1G>T r.spl? p.? Unknown - likely benign g.159618710G>T g.158697558G>T ETFDH(NM_004453.2):c.832-1G>T (p.?), ETFDH(NM_004453.3):c.832-1G>T - ETFDH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.834A>T r.(?) p.(Leu278Phe) Unknown - VUS g.159618713A>T g.158697561A>T ETFDH(NM_004453.2):c.834A>T (p.(Leu278Phe)), ETFDH(NM_004453.3):c.834A>T (p.L278F) - ETFDH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.834A>T r.(?) p.(Leu278Phe) Unknown - likely benign g.159618713A>T g.158697561A>T ETFDH(NM_004453.2):c.834A>T (p.(Leu278Phe)), ETFDH(NM_004453.3):c.834A>T (p.L278F) - ETFDH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.841A>G r.(?) p.(Ile281Val) Parent #1 - VUS g.159618720A>G g.158697568A>G - - ETFDH_000014 p.Ile281Val; PolyPhen-2: benign (PSIC: 0,3) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.863C>G r.(?) p.(Pro288Arg) Paternal (inferred) ACMG VUS g.159618742C>G g.158697590C>G - - ETFDH_000042 inferred in trans with c.1439G>A - - - Germline - - - - - DNA SEQ-NG-IT - - MADD - - - F - Spain - - - - - 1 Jorge Docampo Cordeiro
+?/. - c.881C>T r.(?) p.(Thr294Ile) Unknown - likely pathogenic g.159618760C>T - - - ETFDH_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.920C>G r.(?) p.(Ser307Cys) Unknown - likely pathogenic g.159618799C>G g.158697647C>G - - ETFDH_000020 - - - - De novo - - - - - DNA SEQ blood - - - - - - - - - - - - - 1 Daojun Hong
+/. - c.953T>C r.(?) p.(Leu318Pro) Parent #2 - pathogenic (recessive) g.159618832T>C g.158697680T>C - - ETFDH_000075 - PubMed: Tong 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat_27 PubMed: Tong 2018 patient F - China - - - - - 1 Johan den Dunnen
+/. - c.970G>A r.(?) p.(Val324Met) Paternal (confirmed) - pathogenic (recessive) g.159618849G>A g.158697697G>A 970A>G (Val324Met) - ETFDH_000066 - Journal: Nogueira 2021 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES MADD FamPat1 Journal: Nogueira 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Portugal - - - - - 1 Johan den Dunnen
?/. 9 c.973G>T r.(spl?) p.(Val325Phe?) Parent #1 - VUS g.159620139G>T g.158698987G>T - - ETFDH_000017 Alamut: Polyphen-2: possibly damaging (PSIC: 0,789) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.1036C>T r.(?) p.(His346Tyr) Unknown - VUS g.159620202C>T - ETFDH(NM_004453.4):c.1036C>T (p.(His346Tyr)) - ETFDH_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1099A>G r.(?) p.(Asn367Asp) Unknown - VUS g.159620265A>G - ETFDH(NM_004453.4):c.1099A>G (p.(Asn367Asp)) - ETFDH_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1106G>C r.(?) p.(Gly369Ala) Both (homozygous) - VUS g.159620272G>C g.158699120G>C - - ETFDH_000002 polyphen-2: probably damaging (PSIC: 2,31) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.1117-2A>G r.spl? p.? Parent #1 - VUS g.159624573A>G g.158703421A>G - - ETFDH_000003 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.1130T>C r.(?) p.(Leu377Pro) Both (homozygous) ACMG likely pathogenic g.159624588T>C g.158703436T>C - - ETFDH_000045 ACMG: PM2,PM3,PP1,PP3,PP4; Gempel et al. 2007. Brain 130: 2037; I??kay et al. 2017. Turk J Pediatr 59: 315 - - rs387907170 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
?/. - c.1141G>C r.(?) p.(Gly381Arg) Parent #1 - VUS g.159624599G>C g.158703447G>C - - ETFDH_000004 alamut:polyphen-2: probably damaging (PSIC: 1,0) - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.1144G>A r.(?) p.(Gly382Ser) Parent #1 - VUS g.159624602G>A g.158703450G>A - - ETFDH_000005 alamut:polyphen-2: probably damaging (PSIC: 0.994) - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.1227A>C r.(?) p.(Leu409Phe) Unknown - likely pathogenic g.159624685A>C g.158703533A>C - - ETFDH_000051 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
?/. 10i c.1286-15T>A r.(spl?) p.(?) Parent #1 - VUS g.159627326T>A g.158706174T>A - - ETFDH_000006 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.1336A>C r.(?) p.(Lys446Gln) Unknown - VUS g.159627391A>C - ETFDH(NM_004453.4):c.1336A>C (p.(Lys446Gln)) - ETFDH_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1439G>A r.(?) p.(Gly480Glu) Paternal (confirmed) - likely pathogenic g.159627494G>A g.158706342G>A - - ETFDH_000032 - - - - Germline - - - - - DNA SEQ-NG-I - - MADD - - - - - - - - - - - 1 Belen Perez
+?/. - c.1439G>A r.(?) p.(Gly480Glu) Maternal (inferred) ACMG VUS g.159627494G>A - - - ETFDH_000032 inferred in trans with c.863C>G - - - Germline - - - - - DNA SEQ-NG-IT - - MADD - - - F - Spain - - - - - 1 Jorge Docampo Cordeiro
+?/. 11 c.1439G>A r.(?) p.(Gly480Glu) Parent #1 - likely pathogenic g.159627494G>A g.158706342G>A - - ETFDH_000032 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - Mendeliome panel metabolic syndrome Pat110 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1448C>T r.(?) p.(Pro483Leu) Paternal (confirmed) - likely pathogenic (recessive) g.159627503C>T g.158706351C>T - - ETFDH_000046 - - - rs377656387 Germline - - - - - DNA SEQ-NG - - MADD - - compound heterozygous patient, unaffected heterozygous parents F no Greece - 07y - - - 1 Helen Latsoudis
?/. - c.1450T>C r.(?) p.(Trp484Arg) Parent #1 - VUS g.159627505T>C g.158706353T>C - - ETFDH_000007 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+?/. 11 c.1450T>C r.(?) p.(Trp484Arg) Unknown - likely pathogenic g.159627505T>C g.158706353T>C - - ETFDH_000007 - - - - De novo - - - - - DNA SEQ blood - - - - - - - - - - - - - 1 Daojun Hong
-?/. - c.1533T>C r.(?) p.(Asp511=) Unknown - likely benign g.159627845T>C - ETFDH(NM_004453.3):c.1533T>C (p.D511=) - ETFDH_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1544G>T r.(?) p.(Ser515Ile) Parent #1 - VUS g.159627856G>T g.158706704G>T - - ETFDH_000008 Polyphen-2: probably damaging(PSIC: 0,99) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.1590A>G r.(?) p.(Glu530=) Unknown - likely benign g.159627902A>G - ETFDH(NM_004453.3):c.1590A>G (p.E530=) - ETFDH_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1601C>T r.(?) p.(Pro534Leu) Parent #2 - pathogenic (recessive) g.159627913C>T g.158706761C>T 1601C> (Pro534Leu) - ETFDH_000076 - PubMed: Tong 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat_13 PubMed: Tong 2018 patient M - China - - - - - 1 Johan den Dunnen
+/. - c.1648_1649del r.(?) p.(Leu550ValfsTer4) Maternal (confirmed) - pathogenic (recessive) g.159627960_159627961del g.158706808_158706809del 1648_1649delCT - ETFDH_000067 - Journal: Nogueira 2021 - - Germline - - - - - DNA, RNA SEQ, SEQ-NG - WES MADD FamPat3 Journal: Nogueira 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Portugal - - - - - 1 Johan den Dunnen
?/. - c.1669G>A r.(?) p.(Glu557Lys) Parent #1 - VUS g.159627981G>A g.158706829G>A - - ETFDH_000009 Polyphen-2: probably damaging (PSIC:1.977) - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.1670A>G r.(?) p.(Glu557Gly) Parent #1 - VUS g.159627982A>G g.158706830A>G - - ETFDH_000010 Alamut:PolyPhen-2: probably damaging (PSIC:1,0) - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+?/. 12 c.1675C>T r.(?) p.(Arg559*) Maternal (confirmed) - likely pathogenic (recessive) g.159627987C>T g.158706835C>T - - ETFDH_000047 - - - rs186023896 Germline - - - - - DNA SEQ-NG - - MADD - - compound heterozygous patient, unaffected heterozygous parents F no Greece - 07y - - - 1 Helen Latsoudis
-?/. - c.1812G>A r.(?) p.(Val604=) Unknown - likely benign g.159629637G>A - ETFDH(NM_004453.3):c.1812G>A (p.V604=) - ETFDH_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.1813del r.(?) p.(Val605Tyrfs*34) Maternal (confirmed) - pathogenic g.159629638del g.158708486del 1812delG - ETFDH_000041 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood - MADD - - - F no China Han Chinese - - - - 1 Guorui Hu
?/. - c.1842C>A r.(?) p.(Tyr614Ter) Unknown - VUS g.159629667C>A g.158708515C>A - - ETFDH_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1852T>C r.(?) p.(*618Glnext*13) Parent #1 - pathogenic g.159629677T>C g.158708525T>C - - ETFDH_000011 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.1852T>C r.(?) p.(*618Glnext*13) Paternal (confirmed) ACMG likely pathogenic (recessive) g.159629677T>C g.158708525T>C - - ETFDH_000011 ACMG PP5, PM2, PM4 Journal: Martino 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES, WGS MADD patient Journal: Martino 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - 1 Johan den Dunnen
+/. - c.1852T>C r.(?) p.(Ter618GlnextTer13) Unknown - pathogenic g.159629677T>C - - - ETFDH_000011 - - - rs765742496 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2150T>C r.(=) p.(=) Unknown - likely benign g.159631829T>C g.158710677T>C PPID(NM_005038.2):c.982-7A>G (p.(=)) - ETFDH_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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