Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_000126.4(ETFA):c.*268A>G | 2108 | ETFA | Benign | 80292319 | RCV000390524|RCV001712030; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 15 | 76508632 | 76508632 | | | NC_000015.9:g.76508632T>C | ClinGen:CA10642578 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.*216A>T | 2108 | ETFA | Benign | 1803550 | RCV000313076|RCV001712106; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 15 | 76508684 | 76508684 | | | NC_000015.9:g.76508684T>A | ClinGen:CA10642579 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.*99G>A | 2108 | ETFA | Uncertain significance | 140121559 | RCV000370060; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508801 | 76508801 | | | NC_000015.9:g.76508801C>T | ClinGen:CA10642581 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.*55C>G | 2108 | ETFA | Uncertain significance | 886051487 | RCV000277782; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508845 | 76508845 | | | NC_000015.9:g.76508845G>C | ClinGen:CA10636574 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.*46C>T | 2108 | ETFA | Uncertain significance | 183981964 | RCV001121507; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508854 | 76508854 | | | 15:g.76508854G>A | - | | |
NM_000126.4(ETFA):c.*27_*30del | 2108 | ETFA | Pathogenic | 2142101078 | RCV001844341; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508870 | 76508873 | | | 76508869 | - | | |
NC_000015.9:g.(?_76508890)_(76603739_?)del | 2108 | ETFA | Pathogenic | -1 | RCV001941918; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508890 | 76603739 | | | -1 | - | | |
NC_000015.9:g.(?_76508900)_(76518290_?)del | 2108 | ETFA | Uncertain significance | -1 | RCV003119340; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508900 | 76518290 | | | | - | | |
NC_000015.9:g.(?_76508900)_(76603729_?)dup | 2108 | ETFA | Uncertain significance | -1 | RCV003119342; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508900 | 76603729 | | | | - | | |
NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu) | 2108 | ETFA | Uncertain significance | 201424632 | RCV001913150; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508901 | 76508901 | | | 76508901 | - | | |
NM_000126.4(ETFA):c.994A>G (p.Lys332Glu) | 2108 | ETFA | Uncertain significance | -1 | RCV002671703; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508908 | 76508908 | | | NC_000015.9:g.76508908T>C | - | | |
NM_000126.4(ETFA):c.981T>G (p.Thr327=) | 2108 | ETFA | Likely benign | 752246889 | RCV001438689; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508921 | 76508921 | | | 76508921 | - | | |
NM_000126.4(ETFA):c.980C>A (p.Thr327Asn) | 2108 | ETFA | Uncertain significance | -1 | RCV003009403; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508922 | 76508922 | | | NC_000015.9:g.76508922G>T | - | | |
NM_000126.4(ETFA):c.974A>G (p.Glu325Gly) | 2108 | ETFA | Uncertain significance | -1 | RCV002838000; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508928 | 76508928 | | | NC_000015.9:g.76508928T>C | - | | |
NM_000126.4(ETFA):c.973G>A (p.Glu325Lys) | 2108 | ETFA | Uncertain significance | 2038898400 | RCV001973187; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508929 | 76508929 | | | 76508929 | - | | |
NM_000126.4(ETFA):c.972T>C (p.Pro324=) | 2108 | ETFA | Likely benign | 1351662991 | RCV002198691; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508930 | 76508930 | | | 76508930 | - | | |
NM_000126.4(ETFA):c.967G>A (p.Val323Ile) | 2108 | ETFA | Uncertain significance | 1225887341 | RCV001053833; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508935 | 76508935 | | | 15:g.76508935C>T | - | | |
NM_000126.4(ETFA):c.964-1G>C | 2108 | ETFA | Uncertain significance | 757885420 | RCV000721997; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508939 | 76508939 | | | NC_000015.9:g.76508939C>G | - | | |
NM_000126.4(ETFA):c.964-4G>A | 2108 | ETFA | Likely benign | 777742977 | RCV002082507; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508942 | 76508942 | | | 76508942 | - | | |
NM_000126.4(ETFA):c.964-10T>C | 2108 | ETFA | Likely benign | 1223890959 | RCV001407657; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508948 | 76508948 | | | 76508948 | - | | |
NM_000126.4(ETFA):c.964-20C>G | 2108 | ETFA | Benign/Likely benign | 570818940 | RCV000612313|RCV002063277; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76508958 | 76508958 | | | 15:g.76508958G>C | ClinGen:CA7673535 | CN169374 not specified; | |
NC_000015.9:g.(?_76518170)_(76518290_?)del | 2108 | ETFA | Uncertain significance | -1 | RCV003119339; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518170 | 76518290 | | | | - | | |
NM_000126.4(ETFA):c.963+14G>C | 2108 | ETFA | Likely benign | 1369553684 | RCV002099285; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518176 | 76518176 | | | 76518176 | - | | |
NM_000126.4(ETFA):c.963+9del | 2108 | ETFA | Likely benign | 2038998662 | RCV001453870; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518181 | 76518181 | | | 76518180 | - | | |
NM_000126.4(ETFA):c.963+8G>A | 2108 | ETFA | Likely benign | -1 | RCV002761451; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518182 | 76518182 | | | NC_000015.9:g.76518182C>T | - | | |
NM_000126.4(ETFA):c.963+1del | 2108 | ETFA | Conflicting interpretations of pathogenicity | 746488455 | RCV000002715|RCV002496235|RCV003155011; | N | MONDO:MONDO:0700073,MedGen:C3278154|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN169374 | 15 | 76518189 | 76518189 | | | 76518188 | OMIM:608053.0005 | | |
NM_000126.4(ETFA):c.960T>C (p.Phe320=) | 2108 | ETFA | Likely benign | -1 | RCV002993700; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518193 | 76518193 | | | | - | | |
NM_000126.4(ETFA):c.955T>C (p.Leu319=) | 2108 | ETFA | Likely benign | -1 | RCV003080214; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518198 | 76518198 | | | | - | | |
NM_000126.4(ETFA):c.951A>G (p.Ala317=) | 2108 | ETFA | Likely benign | 750192285 | RCV002206434; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518202 | 76518202 | | | 76518202 | - | | |
NM_000126.4(ETFA):c.946G>T (p.Val316Phe) | 2108 | ETFA | Uncertain significance | 1567195832 | RCV000707619; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518207 | 76518207 | | | NC_000015.9:g.76518207C>A | - | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.946G>C (p.Val316Leu) | 2108 | ETFA | Uncertain significance | 1567195832 | RCV001891651; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518207 | 76518207 | | | 76518207 | - | | |
NM_000126.4(ETFA):c.945A>C (p.Ile315=) | 2108 | ETFA | Likely benign | 2142108038 | RCV002172035; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518208 | 76518208 | | | 76518208 | - | | |
NM_000126.4(ETFA):c.942A>C (p.Gly314=) | 2108 | ETFA | Likely benign | 1253828046 | RCV002081386; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518211 | 76518211 | | | 76518211 | - | | |
NM_000126.4(ETFA):c.939T>C (p.Tyr313=) | 2108 | ETFA | Likely benign | -1 | RCV002811908; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518214 | 76518214 | | | | - | | |
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn) | 2108 | ETFA | Uncertain significance | -1 | RCV003079632; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518219 | 76518219 | | | NC_000015.9:g.76518219C>T | - | | |
NM_000126.4(ETFA):c.932C>T (p.Ala311Val) | 2108 | ETFA | Uncertain significance | 1263820606 | RCV001883510; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518221 | 76518221 | | | 76518221 | - | | |
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser) | 2108 | ETFA | Uncertain significance | 372591001 | RCV000520657|RCV001829514|RCV002525215; | N | MedGen:CN169374||MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518222 | 76518222 | | | 15:g.76518222C>A | ClinGen:CA7673556 | CN169374 not specified; | |
NM_000126.4(ETFA):c.919A>G (p.Ile307Val) | 2108 | ETFA | Uncertain significance | 373896010 | RCV001365995|RCV001826047; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 15 | 76518234 | 76518234 | | | 76518234 | - | | |
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu) | 2108 | ETFA | Uncertain significance | -1 | RCV002785705; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518236 | 76518236 | | | NC_000015.9:g.76518236G>A | - | | |
NM_000126.4(ETFA):c.909A>G (p.Pro303=) | 2108 | ETFA | Likely benign | 2142108061 | RCV002082743; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518244 | 76518244 | | | 76518244 | - | | |
NM_000126.4(ETFA):c.891G>C (p.Val297=) | 2108 | ETFA | Likely benign | 2142108075 | RCV001473160; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518262 | 76518262 | | | 76518262 | - | | |
NM_000126.4(ETFA):c.884_886del (p.Thr295del) | 2108 | ETFA | Likely pathogenic | 2038999395 | RCV001175202; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518267 | 76518269 | | | 15:g.76518267_76518269del | - | | |
NM_000126.4(ETFA):c.883-3C>T | 2108 | ETFA | Uncertain significance | 772701864 | RCV001277755; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518273 | 76518273 | | | 15:g.76518273G>A | - | | |
NM_000126.4(ETFA):c.883-4A>G | 2108 | ETFA | Likely benign | 2142108087 | RCV002201876; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518274 | 76518274 | | | 76518274 | - | | |
NM_000126.4(ETFA):c.883-5C>T | 2108 | ETFA | Likely benign | -1 | RCV003068434; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518275 | 76518275 | | | NC_000015.9:g.76518275G>A | - | | |
NM_000126.4(ETFA):c.883-6T>C | 2108 | ETFA | Likely benign | 2142108091 | RCV001406775; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518276 | 76518276 | | | 76518276 | - | | |
NM_000126.4(ETFA):c.883-9dup | 2108 | ETFA | Likely benign | 2142108094 | RCV002111228; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518278 | 76518279 | | | 76518278 | - | | |
NM_000126.4(ETFA):c.883-9A>G | 2108 | ETFA | Likely benign | 773894937 | RCV002086550; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518279 | 76518279 | | | 76518279 | - | | |
NM_000126.4(ETFA):c.883-10T>C | 2108 | ETFA | Likely benign | 1289782242 | RCV001490762; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518280 | 76518280 | | | 76518280 | - | | |
NM_000126.4(ETFA):c.883-14T>A | 2108 | ETFA | Likely benign | 2038999587 | RCV002183514; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518284 | 76518284 | | | 76518284 | - | | |
NM_000126.4(ETFA):c.883-18T>G | 2108 | ETFA | Likely benign | -1 | RCV002571849; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76518288 | 76518288 | | | NC_000015.9:g.76518288A>C | - | | |
NC_000015.9:g.(?_76523654)_(76523759_?)del | 2108 | ETFA | Uncertain significance | -1 | RCV003119338; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523654 | 76523759 | | | | - | | |
NM_000126.4(ETFA):c.882+15G>A | 2108 | ETFA | Likely benign | -1 | RCV002948324; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523659 | 76523659 | | | NC_000015.9:g.76523659C>T | - | | |
NM_000126.4(ETFA):c.882+10C>T | 2108 | ETFA | Conflicting interpretations of pathogenicity | 2039064081 | RCV001116619; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523664 | 76523664 | | | 15:g.76523664G>A | - | | |
NM_000126.4(ETFA):c.882+9A>G | 2108 | ETFA | Likely benign | 373161597 | RCV001272687|RCV001480517; | N | |MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523665 | 76523665 | | | 15:g.76523665T>C | - | | |
NM_000126.4(ETFA):c.882+8T>C | 2108 | ETFA | Likely benign | 776847997 | RCV001467349; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523666 | 76523666 | | | 76523666 | - | | |
NM_000126.4(ETFA):c.882+7G>C | 2108 | ETFA | Likely benign | 753882653 | RCV001447666; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523667 | 76523667 | | | 76523667 | - | | |
NM_000126.4(ETFA):c.882+7G>A | 2108 | ETFA | Likely benign | 753882653 | RCV001430795; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523667 | 76523667 | | | 76523667 | - | | |
NM_000126.4(ETFA):c.882+7G>T | 2108 | ETFA | Likely benign | 753882653 | RCV002148677; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523667 | 76523667 | | | 76523667 | - | | |
NM_000126.4(ETFA):c.882+6T>G | 2108 | ETFA | Uncertain significance | 746311782 | RCV000798664|RCV001830716; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 15 | 76523668 | 76523668 | | | 15:g.76523668A>C | - | | |
NM_000126.4(ETFA):c.882+5T>C | 2108 | ETFA | Conflicting interpretations of pathogenicity | 377259058 | RCV000605516|RCV001860309; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523669 | 76523669 | | | 15:g.76523669A>G | ClinGen:CA7673586 | CN169374 not specified; | |
NM_000126.4(ETFA):c.882+3A>G | 2108 | ETFA | Uncertain significance | -1 | RCV002664099; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523671 | 76523671 | | | NC_000015.9:g.76523671T>C | - | | |
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu) | 2108 | ETFA | Uncertain significance | 778807824 | RCV001277756; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523680 | 76523680 | | | 15:g.76523680G>T | - | | |
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln) | 2108 | ETFA | Uncertain significance | 1184566559 | RCV000699658; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523685 | 76523685 | | | NC_000015.9:g.76523685T>G | - | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala) | 2108 | ETFA | Uncertain significance | -1 | RCV003090067; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523690 | 76523690 | | | NC_000015.9:g.76523690C>G | - | | |
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu) | 2108 | ETFA | Uncertain significance | -1 | RCV003117210; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523718 | 76523718 | | | NC_000015.9:g.76523718T>G | - | | |
NM_000126.4(ETFA):c.837A>G (p.Gly279=) | 2108 | ETFA | Likely benign | 772717284 | RCV000979557; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523719 | 76523719 | | | 15:g.76523719T>C | - | | |
NM_000126.4(ETFA):c.837A>C (p.Gly279=) | 2108 | ETFA | Likely benign | 772717284 | RCV001409660; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523719 | 76523719 | | | 76523719 | - | | |
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs) | 2108 | ETFA | Pathogenic/Likely pathogenic | -1 | RCV002614093; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523722 | 76523723 | | | NC_000015.9:g.76523724_76523731dup | - | | |
NM_000126.4(ETFA):c.831T>C (p.Ala277=) | 2108 | ETFA | Likely benign | 371149279 | RCV002133135; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523725 | 76523725 | | | 76523725 | - | | |
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) | 2108 | ETFA | Conflicting interpretations of pathogenicity | 141200145 | RCV000185869|RCV000527908; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523730 | 76523730 | | | 15:g.76523730T>G | ClinGen:CA312487 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.822T>C (p.Leu274=) | 2108 | ETFA | Likely benign | 2141463797 | RCV001486957; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523734 | 76523734 | | | 76523734 | - | | |
NM_000126.4(ETFA):c.822T>A (p.Leu274=) | 2108 | ETFA | Likely benign | 2141463797 | RCV002213239; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523734 | 76523734 | | | 76523734 | - | | |
NM_000126.4(ETFA):c.819A>G (p.Glu273=) | 2108 | ETFA | Likely benign | -1 | RCV002717351; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523737 | 76523737 | | | | - | | |
NM_000126.4(ETFA):c.817-7A>G | 2108 | ETFA | Likely benign | -1 | RCV002819819; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523746 | 76523746 | | | NC_000015.9:g.76523746T>C | - | | |
NM_000126.4(ETFA):c.817-8T>G | 2108 | ETFA | Likely benign | -1 | RCV002828429; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523747 | 76523747 | | | NC_000015.9:g.76523747A>C | - | | |
NM_000126.4(ETFA):c.817-12C>T | 2108 | ETFA | Likely benign | 752918296 | RCV001722659|RCV002531509; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523751 | 76523751 | | | 15:g.76523751G>A | ClinGen:CA7673599 | CN169374 not specified; | |
NM_000126.4(ETFA):c.817-16A>G | 2108 | ETFA | Likely benign | 1176510084 | RCV002167501; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76523755 | 76523755 | | | 76523755 | - | | |
NM_000126.4(ETFA):c.817-32A>G | 2108 | ETFA | Benign | 62030234 | RCV001526776|RCV001692437; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 15 | 76523771 | 76523771 | | | 76523771 | - | | |
NM_000126.4(ETFA):c.817-3173C>G | 2108 | ETFA | Benign | 2456057 | RCV001521894; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76526912 | 76526912 | | | 76526912 | - | | |
NM_000126.4(ETFA):c.816+13A>G | 2108 | ETFA | Likely benign | -1 | RCV002776522; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566740 | 76566740 | | | NC_000015.9:g.76566740T>C | - | | |
NC_000015.9:g.(?_76566743)_(76588088_?)del | 2108 | ETFA | Likely pathogenic | -1 | RCV001986156; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566743 | 76588088 | | | -1 | - | | |
NM_000126.4(ETFA):c.816+9T>A | 2108 | ETFA | Likely benign | 2141516215 | RCV002186958; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566744 | 76566744 | | | 76566744 | - | | |
NM_000126.4(ETFA):c.816+8T>A | 2108 | ETFA | Likely benign | 759412407 | RCV000976820; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566745 | 76566745 | | | 15:g.76566745A>T | - | | |
NM_000126.4(ETFA):c.813A>C (p.Ala271=) | 2108 | ETFA | Likely benign | 2141516230 | RCV001461088; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566756 | 76566756 | | | 76566756 | - | | |
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) | 2108 | ETFA | Conflicting interpretations of pathogenicity | 779140971 | RCV001577514|RCV001780410|RCV002267117; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0700073,MedGen:C3278154 | 15 | 76566758 | 76566760 | | | 76566757 | OMIM:608053.0004 | | |
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr) | 2108 | ETFA | Uncertain significance | -1 | RCV003121529; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566758 | 76566758 | | | NC_000015.9:g.76566758C>T | - | | |
NM_000126.4(ETFA):c.810A>G (p.Val270=) | 2108 | ETFA | Likely benign | -1 | RCV003014526; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566759 | 76566759 | | | | - | | |
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu) | 2108 | ETFA | Uncertain significance | -1 | RCV002794781; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566764 | 76566764 | | | NC_000015.9:g.76566764T>A | - | | |
NM_000126.4(ETFA):c.798G>A (p.Thr266=) | 2108 | ETFA | Likely benign | 764478797 | RCV001398033; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566771 | 76566771 | | | 15:g.76566771C>T | - | | |
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) | 2108 | ETFA | Pathogenic | 119458970 | RCV000002712|RCV000185868|RCV000332032; | N | MONDO:MONDO:0700073,MedGen:C3278154|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566772 | 76566772 | | | 15:g.76566772G>A | UniProtKB:P13804#VAR_002368,OMIM:608053.0002,ClinGen:CA115638 | C3278154 Glutaric acidemia IIA; | |
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter) | 2108 | ETFA | Pathogenic | 757409121 | RCV001381065; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566776 | 76566776 | | | 76566776 | - | | |
NM_000126.4(ETFA):c.786A>G (p.Gln262=) | 2108 | ETFA | Likely benign | -1 | RCV003074519; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566783 | 76566783 | | | | - | | |
NM_000126.4(ETFA):c.780C>T (p.Asp260=) | 2108 | ETFA | Likely benign | -1 | RCV002834747; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566789 | 76566789 | | | | - | | |
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp) | 2108 | ETFA | Uncertain significance | -1 | RCV002786443; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566794 | 76566794 | | | NC_000015.9:g.76566794T>C | - | | |
NM_000126.4(ETFA):c.771T>G (p.Val257=) | 2108 | ETFA | Likely benign | 138255469 | RCV002119776; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566798 | 76566798 | | | 76566798 | - | | |
NM_000126.4(ETFA):c.765C>A (p.Gly255=) | 2108 | ETFA | Likely benign | 2141516311 | RCV001396954; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566804 | 76566804 | | | 76566804 | - | | |
NM_000126.4(ETFA):c.759T>C (p.Asp253=) | 2108 | ETFA | Likely benign | 142970498 | RCV001277757; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566810 | 76566810 | | | 15:g.76566810A>G | - | | |
NM_000126.4(ETFA):c.746G>A (p.Arg249His) | 2108 | ETFA | Uncertain significance | 886051488 | RCV000325820|RCV001835781|RCV002520975; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791||MeSH:D030342,MedGen:C0950123 | 15 | 76566823 | 76566823 | | | NC_000015.9:g.76566823C>T | ClinGen:CA10647414 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys) | 2108 | ETFA | Uncertain significance | 1353938548 | RCV001955917; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566824 | 76566824 | | | 76566824 | - | | |
NM_000126.4(ETFA):c.734-10T>C | 2108 | ETFA | Likely benign | 2141516395 | RCV002096724; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566845 | 76566845 | | | 76566845 | - | | |
NM_000126.4(ETFA):c.734-11T>C | 2108 | ETFA | Likely benign | 771704448 | RCV002180406; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566846 | 76566846 | | | 76566846 | - | | |
NM_000126.4(ETFA):c.734-20C>A | 2108 | ETFA | Benign | 2460160 | RCV000124910|RCV001518157; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76566855 | 76566855 | | | 15:g.76566855G>T | ClinGen:CA290760 | CN169374 not specified; | |
NM_000126.4(ETFA):c.733+38T>C | 2108 | ETFA | Benign | 78052129 | RCV001526777; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576060 | 76576060 | | | 76576060 | - | | |
NM_000126.4(ETFA):c.733+18A>C | 2108 | ETFA | Likely benign | -1 | RCV002953583; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576080 | 76576080 | | | NC_000015.9:g.76576080T>G | - | | |
NM_000126.4(ETFA):c.733+16T>G | 2108 | ETFA | Likely benign | 755381395 | RCV002089419; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576082 | 76576082 | | | 76576082 | - | | |
NM_000126.4(ETFA):c.733+10T>C | 2108 | ETFA | Likely benign | 1298665818 | RCV000982097; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576088 | 76576088 | | | 15:g.76576088A>G | - | | |
NM_000126.4(ETFA):c.733+8T>A | 2108 | ETFA | Likely benign | -1 | RCV002843083; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576090 | 76576090 | | | NC_000015.9:g.76576090A>T | - | | |
NM_000126.4(ETFA):c.731C>T (p.Ala244Val) | 2108 | ETFA | Uncertain significance | -1 | RCV003319149; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576100 | 76576100 | | | | - | | |
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly) | 2108 | ETFA | Uncertain significance | 202121622 | RCV001116620; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576103 | 76576103 | | | 15:g.76576103G>C | - | | |
NM_000126.4(ETFA):c.723A>G (p.Leu241=) | 2108 | ETFA | Likely benign | 2141528126 | RCV001400483; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576108 | 76576108 | | | 76576108 | - | | |
NM_000126.4(ETFA):c.720A>G (p.Gln240=) | 2108 | ETFA | Conflicting interpretations of pathogenicity | 756864231 | RCV000982193; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576111 | 76576111 | | | 15:g.76576111T>C | - | | |
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr) | 2108 | ETFA | Uncertain significance | 2141528171 | RCV001365627; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576125 | 76576125 | | | 76576125 | - | | |
NM_000126.4(ETFA):c.702A>G (p.Leu234=) | 2108 | ETFA | Likely benign | 775620228 | RCV000973823|RCV001827061; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 15 | 76576129 | 76576129 | | | 15:g.76576129T>C | - | | |
NM_000126.4(ETFA):c.700T>C (p.Leu234=) | 2108 | ETFA | Likely benign | -1 | RCV003067280; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576131 | 76576131 | | | | - | | |
NM_000126.4(ETFA):c.693dup (p.Lys232Ter) | 2108 | ETFA | Pathogenic | 754050501 | RCV001993163; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576137 | 76576138 | | | 76576137 | - | | |
NM_000126.4(ETFA):c.689dup (p.Asn230fs) | 2108 | ETFA | Likely pathogenic | -1 | RCV003475602; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576141 | 76576142 | | | | - | | |
NM_000126.4(ETFA):c.683G>A (p.Gly228Glu) | 2108 | ETFA | Uncertain significance | -1 | RCV002716243; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576148 | 76576148 | | | NC_000015.9:g.76576148C>T | - | | |
NM_000126.4(ETFA):c.682G>A (p.Gly228Arg) | 2108 | ETFA | Uncertain significance | 1390694827 | RCV002016468; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576149 | 76576149 | | | 76576149 | - | | |
NM_000126.4(ETFA):c.678G>A (p.Lys226=) | 2108 | ETFA | Likely benign | 774023966 | RCV002206351; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576153 | 76576153 | | | 76576153 | - | | |
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln) | 2108 | ETFA | Uncertain significance | -1 | RCV003083699|RCV003235767; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202 | 15 | 76576163 | 76576163 | | | NC_000015.9:g.76576163C>T | - | | |
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) | 2108 | ETFA | Conflicting interpretations of pathogenicity | 769976586 | RCV000493941|RCV000779174|RCV001829411; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 15 | 76576164 | 76576164 | | | 15:g.76576164G>A | ClinGen:CA7673658 | CN517202 not provided; | |
NM_000126.4(ETFA):c.667C>A (p.Arg223=) | 2108 | ETFA | Likely benign | 769976586 | RCV001494462; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576164 | 76576164 | | | 76576164 | - | | |
NM_000126.4(ETFA):c.665-1G>A | 2108 | ETFA | Likely pathogenic | -1 | RCV003475608; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576167 | 76576167 | | | | - | | |
NM_000126.4(ETFA):c.665-4T>C | 2108 | ETFA | Likely benign | -1 | RCV002666978; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576170 | 76576170 | | | NC_000015.9:g.76576170A>G | - | | |
NM_000126.4(ETFA):c.665-13C>G | 2108 | ETFA | Likely benign | -1 | RCV003054731; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576179 | 76576179 | | | NC_000015.9:g.76576179G>C | - | | |
NM_000126.4(ETFA):c.665-17dup | 2108 | ETFA | Benign | 144403864 | RCV002087970; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576182 | 76576183 | | | 76576182 | - | | |
NM_000126.4(ETFA):c.665-17del | 2108 | ETFA | Benign | 144403864 | RCV001511263; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576183 | 76576183 | | | 76576182 | - | | |
NM_000126.4(ETFA):c.665-17T>C | 2108 | ETFA | Likely benign | -1 | RCV003088876; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76576183 | 76576183 | | | NC_000015.9:g.76576183A>G | - | | |
NM_000126.4(ETFA):c.664+8A>T | 2108 | ETFA | Likely benign | -1 | RCV003054493; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76577970 | 76577970 | | | NC_000015.9:g.76577970T>A | - | | |
NM_000126.4(ETFA):c.658_664+3del | 2108 | ETFA | Likely pathogenic | -1 | RCV002908070; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76577975 | 76577984 | | | NC_000015.9:g.76577983_76577992del | - | | |
NM_000126.4(ETFA):c.664+2dup | 2108 | ETFA | Likely pathogenic | -1 | RCV003475607; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76577975 | 76577976 | | | | - | | |
NM_000126.4(ETFA):c.664+1G>A | 2108 | ETFA | Likely pathogenic | 2039698086 | RCV001069226; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76577977 | 76577977 | | | 15:g.76577977C>T | - | | |
NM_000126.4(ETFA):c.654G>A (p.Val218=) | 2108 | ETFA | Likely benign | 779655385 | RCV002126984; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76577988 | 76577988 | | | 76577988 | - | | |
NM_000126.4(ETFA):c.650_653dup (p.Val219fs) | 2108 | ETFA | Likely pathogenic | -1 | RCV003475605; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76577988 | 76577989 | | | | - | | |
NM_000126.4(ETFA):c.632_640del (p.Glu211_Thr213del) | 2108 | ETFA | Likely pathogenic | -1 | RCV002281668; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578002 | 76578010 | | | 76578001 | - | | |
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys) | 2108 | ETFA | Uncertain significance | -1 | RCV002592413; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578011 | 76578011 | | | NC_000015.9:g.76578011C>T | - | | |
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter) | 2108 | ETFA | Pathogenic/Likely pathogenic | 199763682 | RCV000254926|RCV001228210; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578017 | 76578017 | | | 15:g.76578017G>A | ClinGen:CA7673697 | CN517202 not provided; | |
NM_000126.4(ETFA):c.625del (p.Arg209fs) | 2108 | ETFA | Pathogenic/Likely pathogenic | 1209473816 | RCV001058139; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578017 | 76578017 | | | 15:g.76578017_76578017del | - | | |
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly) | 2108 | ETFA | Uncertain significance | 199763682 | RCV001941093; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578017 | 76578017 | | | 76578017 | - | | |
NM_000126.4(ETFA):c.624del (p.Arg209fs) | 2108 | ETFA | Pathogenic | 1596218695 | RCV000803822; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578018 | 76578018 | | | 15:g.76578018_76578018del | - | | |
NM_000126.4(ETFA):c.603C>T (p.Asp201=) | 2108 | ETFA | Likely benign | -1 | RCV003042646; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578039 | 76578039 | | | | - | | |
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln) | 2108 | ETFA | Uncertain significance | 2141530756 | RCV001949849; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578050 | 76578050 | | | 76578050 | - | | |
NM_000126.4(ETFA):c.591A>C (p.Ser197=) | 2108 | ETFA | Likely benign | 1327483238 | RCV001434339; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578051 | 76578051 | | | 76578051 | - | | |
NM_000126.4(ETFA):c.579A>G (p.Pro193=) | 2108 | ETFA | Likely benign | 936157234 | RCV001499373; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578063 | 76578063 | | | 76578063 | - | | |
NM_000126.4(ETFA):c.564A>G (p.Ala188=) | 2108 | ETFA | Likely benign | 752534473 | RCV001462006; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578078 | 76578078 | | | 76578078 | - | | |
NM_000126.4(ETFA):c.563-4G>A | 2108 | ETFA | Likely benign | -1 | RCV003049222; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578083 | 76578083 | | | NC_000015.9:g.76578083C>T | - | | |
NM_000126.4(ETFA):c.563-5T>C | 2108 | ETFA | Likely benign | 2141530823 | RCV002089301; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578084 | 76578084 | | | 76578084 | - | | |
NM_000126.4(ETFA):c.563-6A>G | 2108 | ETFA | Likely benign | 2141530825 | RCV001489399; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578085 | 76578085 | | | 76578085 | - | | |
NM_000126.4(ETFA):c.563-8G>A | 2108 | ETFA | Likely benign | 777484688 | RCV002093451; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578087 | 76578087 | | | 76578087 | - | | |
NM_000126.4(ETFA):c.563-9T>C | 2108 | ETFA | Likely benign | -1 | RCV002922202; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578088 | 76578088 | | | NC_000015.9:g.76578088A>G | - | | |
NM_000126.4(ETFA):c.562+16G>T | 2108 | ETFA | Likely benign | 2141531505 | RCV002190237; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578696 | 76578696 | | | 76578696 | - | | |
NM_000126.4(ETFA):c.562+11A>T | 2108 | ETFA | Benign | 143834701 | RCV000272341|RCV000443607; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN169374 | 15 | 76578701 | 76578701 | | | NC_000015.9:g.76578701T>A | ClinGen:CA7673736 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.562+10C>G | 2108 | ETFA | Likely benign | -1 | RCV003022372; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578702 | 76578702 | | | NC_000015.9:g.76578702G>C | - | | |
NM_000126.4(ETFA):c.562+8T>C | 2108 | ETFA | Likely benign | -1 | RCV002847011; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578704 | 76578704 | | | NC_000015.9:g.76578704A>G | - | | |
NM_000126.4(ETFA):c.562+8T>G | 2108 | ETFA | Likely benign | -1 | RCV002866412; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578704 | 76578704 | | | NC_000015.9:g.76578704A>C | - | | |
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg) | 2108 | ETFA | Uncertain significance | 2141531541 | RCV001365494|RCV001826042; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 15 | 76578714 | 76578714 | | | 76578714 | - | | |
NM_000126.4(ETFA):c.558A>G (p.Glu186=) | 2108 | ETFA | Likely benign | 2141531548 | RCV001442037; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578716 | 76578716 | | | 76578716 | - | | |
NM_000126.4(ETFA):c.557A>G (p.Glu186Gly) | 2108 | ETFA | Uncertain significance | 986861899 | RCV002050850|RCV002545353|RCV003319480; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123|MedGen:C3661900 | 15 | 76578717 | 76578717 | | | 76578717 | - | | |
NM_000126.4(ETFA):c.556G>T (p.Glu186Ter) | 2108 | ETFA | Pathogenic | -1 | RCV002862723; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578718 | 76578718 | | | NC_000015.9:g.76578718C>A | - | | |
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser) | 2108 | ETFA | Uncertain significance | 374127169 | RCV001277758; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578733 | 76578733 | | | 15:g.76578733C>T | - | | |
NM_000126.4(ETFA):c.540C>G (p.Gly180=) | 2108 | ETFA | Likely benign | 146133196 | RCV001454088|RCV001619907; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 15 | 76578734 | 76578734 | | | 76578734 | - | | |
NM_000126.4(ETFA):c.540C>T (p.Gly180=) | 2108 | ETFA | Likely benign | 146133196 | RCV001485315; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578734 | 76578734 | | | 76578734 | - | | |
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) | 2108 | ETFA | Conflicting interpretations of pathogenicity | 140169311 | RCV000320514|RCV000726964; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202 | 15 | 76578741 | 76578741 | | | 15:g.76578741G>C | ClinGen:CA312477 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.521A>C (p.Asp174Ala) | 2108 | ETFA | Uncertain significance | 1396125343 | RCV001941259; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578753 | 76578753 | | | 76578753 | - | | |
NM_000126.4(ETFA):c.521A>G (p.Asp174Gly) | 2108 | ETFA | Uncertain significance | -1 | RCV002716264|RCV002716263; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578753 | 76578753 | | | NC_000015.9:g.76578753T>C | - | | |
NM_000126.4(ETFA):c.516del (p.Phe173fs) | 2108 | ETFA | Likely pathogenic | -1 | RCV003475597; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578758 | 76578758 | | | | - | | |
NM_000126.4(ETFA):c.513A>G (p.Thr171=) | 2108 | ETFA | Likely benign | -1 | RCV002861981; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578761 | 76578761 | | | | - | | |
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) | 2108 | ETFA | Benign/Likely benign | 1801591 | RCV000078134|RCV000377415|RCV000676979; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 15 | 76578762 | 76578762 | | | 15:g.76578762G>A | ClinGen:CA285317,UniProtKB:P13804#VAR_008547 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu) | 2108 | ETFA | Uncertain significance | 780998008 | RCV000795167; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578765 | 76578765 | | | 15:g.76578765C>T | - | | |
NM_000126.4(ETFA):c.506G>A (p.Arg169His) | 2108 | ETFA | Uncertain significance | 375660532 | RCV001242777|RCV001829002; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 15 | 76578768 | 76578768 | | | 15:g.76578768C>T | - | | |
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys) | 2108 | ETFA | Uncertain significance | 369713466 | RCV001349016|RCV001831148|RCV002548462; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791||MeSH:D030342,MedGen:C0950123 | 15 | 76578769 | 76578769 | | | 76578769 | - | | |
NM_000126.4(ETFA):c.495_496del (p.Ser167fs) | 2108 | ETFA | Pathogenic/Likely pathogenic | 1298299792 | RCV000534299|RCV003403271; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 15 | 76578778 | 76578779 | | | NC_000015.9:g.76578778AC[1] | ClinGen:CA619182995 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.495G>A (p.Val165=) | 2108 | ETFA | Likely benign | -1 | RCV003047311; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578779 | 76578779 | | | | - | | |
NM_000126.4(ETFA):c.489G>C (p.Val163=) | 2108 | ETFA | Likely benign | 1294335935 | RCV002141361; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578785 | 76578785 | | | 76578785 | - | | |
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys) | 2108 | ETFA | Uncertain significance | -1 | RCV002811916; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578793 | 76578793 | | | NC_000015.9:g.76578793C>T | - | | |
NM_000126.4(ETFA):c.478del (p.Asp160fs) | 2108 | ETFA | Pathogenic | 2039705645 | RCV001390288; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578796 | 76578796 | | | 76578795 | - | | |
NM_000126.4(ETFA):c.471G>A (p.Val157=) | 2108 | ETFA | Likely benign | -1 | RCV002599073; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578803 | 76578803 | | | | - | | |
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) | 2108 | ETFA | Pathogenic/Likely pathogenic | 119458969 | RCV000002711|RCV002281690; | N | MONDO:MONDO:0700073,MedGen:C3278154|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578804 | 76578804 | | | 15:g.76578804A>C | ClinGen:CA115637,UniProtKB:P13804#VAR_002367,OMIM:608053.0001 | C3278154 Glutaric acidemia IIA; | |
NM_000126.4(ETFA):c.468A>C (p.Thr156=) | 2108 | ETFA | Likely benign | 775043427 | RCV002153896; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578806 | 76578806 | | | 76578806 | - | | |
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile) | 2108 | ETFA | Uncertain significance | 199597352 | RCV001920158; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578807 | 76578807 | | | 76578807 | - | | |
NM_000126.4(ETFA):c.462A>C (p.Leu154=) | 2108 | ETFA | Likely benign | 2039705956 | RCV002140921; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578812 | 76578812 | | | 76578812 | - | | |
NM_000126.4(ETFA):c.461dup (p.Cys155fs) | 2108 | ETFA | Pathogenic | -1 | RCV002816367; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578812 | 76578813 | | | NC_000015.9:g.76578813dup | - | | |
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro) | 2108 | ETFA | Uncertain significance | 1286837897 | RCV001897174; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578813 | 76578813 | | | 76578813 | - | | |
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro) | 2108 | ETFA | Uncertain significance | 1398343360 | RCV001217994|RCV001828734; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 15 | 76578817 | 76578817 | | | 15:g.76578817C>G | - | | |
NM_000126.4(ETFA):c.456T>C (p.Asn152=) | 2108 | ETFA | Likely benign | 2141531775 | RCV002081466; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578818 | 76578818 | | | 76578818 | - | | |
NM_000126.4(ETFA):c.452-2A>G | 2108 | ETFA | Likely pathogenic | 2141531787 | RCV002031943; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578824 | 76578824 | | | 76578824 | - | | |
NM_000126.4(ETFA):c.452-9A>G | 2108 | ETFA | Likely benign | -1 | RCV002705871; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578831 | 76578831 | | | NC_000015.9:g.76578831T>C | - | | |
NM_000126.4(ETFA):c.452-11del | 2108 | ETFA | Likely benign | 764215608 | RCV000600425|RCV002529565; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76578833 | 76578833 | | | 15:g.76578833_76578833del | ClinGen:CA7673751 | CN169374 not specified; | |
NM_000126.4(ETFA):c.451+19T>C | 2108 | ETFA | Likely benign | 1301022193 | RCV002202496; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580168 | 76580168 | | | 76580168 | - | | |
NM_000126.4(ETFA):c.451+14_451+17del | 2108 | ETFA | Likely benign | 2039716961 | RCV002217797; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580170 | 76580173 | | | 76580169 | - | | |
NM_000126.4(ETFA):c.451+14G>A | 2108 | ETFA | Benign/Likely benign | 557684539 | RCV000424816|RCV002062404; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580173 | 76580173 | | | 15:g.76580173C>T | ClinGen:CA7673761 | CN169374 not specified; | |
NM_000126.4(ETFA):c.451+12A>G | 2108 | ETFA | Likely benign | -1 | RCV002638517; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580175 | 76580175 | | | NC_000015.9:g.76580175T>C | - | | |
NM_000126.4(ETFA):c.451+11A>C | 2108 | ETFA | Likely benign | -1 | RCV002867352; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580176 | 76580176 | | | NC_000015.9:g.76580176T>G | - | | |
NC_000015.9:g.(?_76580177)_(76585051_?)del | 2108 | ETFA | Pathogenic | -1 | RCV003119341; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580177 | 76585051 | | | | - | | |
NM_000126.4(ETFA):c.451+1G>A | 2108 | ETFA | Likely pathogenic | -1 | RCV003475610; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580186 | 76580186 | | | | - | | |
NM_000126.4(ETFA):c.442A>G (p.Ile148Val) | 2108 | ETFA | Conflicting interpretations of pathogenicity | 199673198 | RCV000224700|RCV001081384|RCV001272688; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 15 | 76580196 | 76580196 | | | 15:g.76580196T>C | ClinGen:CA7673764 | CN517202 not provided; | |
NM_000126.4(ETFA):c.441T>A (p.Thr147=) | 2108 | ETFA | Likely benign | 2141533484 | RCV002167932; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580197 | 76580197 | | | 76580197 | - | | |
NM_000126.4(ETFA):c.438A>G (p.Arg146=) | 2108 | ETFA | Likely benign | -1 | RCV002866366; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580200 | 76580200 | | | | - | | |
NM_000126.4(ETFA):c.435G>A (p.Val145=) | 2108 | ETFA | Likely benign | 2141533487 | RCV001490258; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580203 | 76580203 | | | 76580203 | - | | |
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser) | 2108 | ETFA | Uncertain significance | 755055339 | RCV001830429|RCV001751667|RCV001340865; | N | |MedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580207 | 76580207 | | | 76580207 | - | | |
NM_000126.4(ETFA):c.429A>C (p.Thr143=) | 2108 | ETFA | Likely benign | 2141533504 | RCV002220288; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580209 | 76580209 | | | 76580209 | - | | |
NM_000126.4(ETFA):c.429A>G (p.Thr143=) | 2108 | ETFA | Likely benign | -1 | RCV002858691; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580209 | 76580209 | | | | - | | |
NM_000126.4(ETFA):c.427dup (p.Thr143fs) | 2108 | ETFA | Pathogenic | 2039717357 | RCV001919517; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580210 | 76580211 | | | 76580210 | - | | |
NM_000126.4(ETFA):c.423T>C (p.Pro141=) | 2108 | ETFA | Likely benign | 2141533520 | RCV001417189; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580215 | 76580215 | | | 76580215 | - | | |
NM_000126.4(ETFA):c.405C>G (p.Ile135Met) | 2108 | ETFA | Uncertain significance | -1 | RCV002304361; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580233 | 76580233 | | | 76580233 | - | | |
NM_000126.4(ETFA):c.393G>A (p.Pro131=) | 2108 | ETFA | Likely benign | 769299291 | RCV001419113; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580245 | 76580245 | | | 76580245 | - | | |
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu) | 2108 | ETFA | Uncertain significance | 1323414196 | RCV001300516; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580246 | 76580246 | | | 76580246 | - | | |
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr) | 2108 | ETFA | Uncertain significance | -1 | RCV003029545; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580250 | 76580250 | | | NC_000015.9:g.76580250C>T | - | | |
NM_000126.4(ETFA):c.384G>A (p.Glu128=) | 2108 | ETFA | Likely benign | -1 | RCV002695503; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580254 | 76580254 | | | | - | | |
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe) | 2108 | ETFA | Uncertain significance | 910012804 | RCV001198108; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580259 | 76580259 | | | 15:g.76580259G>A | - | | |
NM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs) | 2108 | ETFA | Likely pathogenic | -1 | RCV003475603; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580259 | 76580263 | | | | - | | |
NM_000126.4(ETFA):c.371_372dup (p.Ala125fs) | 2108 | ETFA | Likely pathogenic | -1 | RCV003476349; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580265 | 76580266 | | | | - | | |
NM_000126.4(ETFA):c.372A>C (p.Ala124=) | 2108 | ETFA | Likely benign | -1 | RCV002811402; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580266 | 76580266 | | | | - | | |
NM_000126.4(ETFA):c.369dup (p.Ala124fs) | 2108 | ETFA | Pathogenic | -1 | RCV002867627; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580268 | 76580269 | | | NC_000015.9:g.76580269dup | - | | |
NM_000126.4(ETFA):c.369A>T (p.Val123=) | 2108 | ETFA | Likely benign | -1 | RCV002861320; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580269 | 76580269 | | | | - | | |
NM_000126.4(ETFA):c.367G>A (p.Val123Ile) | 2108 | ETFA | Uncertain significance | 886051489 | RCV000266331; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580271 | 76580271 | | | NC_000015.9:g.76580271C>T | ClinGen:CA10642583 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.366A>G (p.Arg122=) | 2108 | ETFA | Conflicting interpretations of pathogenicity | 2039718120 | RCV001118067; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580272 | 76580272 | | | 15:g.76580272T>C | - | | |
NM_000126.4(ETFA):c.365G>A (p.Arg122Lys) | 2108 | ETFA | Likely pathogenic | -1 | RCV003475600; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580273 | 76580273 | | | | - | | |
NM_000126.4(ETFA):c.363C>T (p.Pro121=) | 2108 | ETFA | Likely benign | -1 | RCV002627861; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580275 | 76580275 | | | | - | | |
NM_000126.4(ETFA):c.358T>C (p.Leu120=) | 2108 | ETFA | Likely benign | 2141533653 | RCV001477514; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580280 | 76580280 | | | 76580280 | - | | |
NM_000126.4(ETFA):c.354C>T (p.Asn118=) | 2108 | ETFA | Likely benign | 761728625 | RCV001478848; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580284 | 76580284 | | | 76580284 | - | | |
NM_000126.4(ETFA):c.352-2A>G | 2108 | ETFA | Likely pathogenic | -1 | RCV002982147; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580288 | 76580288 | | | NC_000015.9:g.76580288T>C | - | | |
NM_000126.4(ETFA):c.352-8G>T | 2108 | ETFA | Likely benign | 767560884 | RCV001408371; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76580294 | 76580294 | | | 76580294 | - | | |
NM_000126.4(ETFA):c.351+17T>C | 2108 | ETFA | Benign/Likely benign | 138629105 | RCV000124908|RCV001519264|RCV003398743; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 15 | 76584755 | 76584755 | | | NC_000015.9:g.76584755A>G | ClinGen:CA290759 | CN169374 not specified; | |
NM_000126.4(ETFA):c.351+12G>A | 2108 | ETFA | Uncertain significance | 2039773989 | RCV001118068; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584760 | 76584760 | | | 15:g.76584760C>T | - | | |
NM_000126.4(ETFA):c.351+10T>C | 2108 | ETFA | Likely benign | 768357479 | RCV002118755; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584762 | 76584762 | | | 76584762 | - | | |
NM_000126.4(ETFA):c.351+9G>A | 2108 | ETFA | Likely benign | 2039774067 | RCV001277759; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584763 | 76584763 | | | 15:g.76584763C>T | - | | |
NM_000126.4(ETFA):c.351+8G>A | 2108 | ETFA | Likely benign | 374723922 | RCV001431545; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584764 | 76584764 | | | 76584764 | - | | |
NM_000126.4(ETFA):c.351+8G>C | 2108 | ETFA | Likely benign | 374723922 | RCV002115186; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584764 | 76584764 | | | 76584764 | - | | |
NM_000126.4(ETFA):c.348A>G (p.Gly116=) | 2108 | ETFA | Likely benign | 2141539896 | RCV002134858; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584775 | 76584775 | | | 76584775 | - | | |
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg) | 2108 | ETFA | Likely pathogenic | 119458971 | RCV000002713|RCV003472959; | N | MONDO:MONDO:0700073,MedGen:C3278154|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584777 | 76584777 | | | 15:g.76584777C>T | ClinGen:CA115639,UniProtKB:P13804#VAR_002366,OMIM:608053.0003 | C3278154 Glutaric acidemia IIA; | |
NM_000126.4(ETFA):c.345C>T (p.Phe115=) | 2108 | ETFA | Likely benign | 760557143 | RCV001434740; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584778 | 76584778 | | | 76584778 | - | | |
NM_000126.4(ETFA):c.345C>A (p.Phe115Leu) | 2108 | ETFA | Uncertain significance | -1 | RCV002823822; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584778 | 76584778 | | | NC_000015.9:g.76584778G>T | - | | |
NM_000126.4(ETFA):c.342C>T (p.Ala114=) | 2108 | ETFA | Likely benign | 1306072739 | RCV000979472; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584781 | 76584781 | | | 15:g.76584781G>A | - | | |
NM_000126.4(ETFA):c.334G>A (p.Ala112Thr) | 2108 | ETFA | Uncertain significance | -1 | RCV002653197; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584789 | 76584789 | | | NC_000015.9:g.76584789C>T | - | | |
NM_000126.4(ETFA):c.334G>T (p.Ala112Ser) | 2108 | ETFA | Uncertain significance | -1 | RCV002794825; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584789 | 76584789 | | | NC_000015.9:g.76584789C>A | - | | |
NM_000126.4(ETFA):c.298_325del (p.Gln100fs) | 2108 | ETFA | Likely pathogenic | -1 | RCV003467944; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584798 | 76584825 | | | | - | | |
NM_000126.4(ETFA):c.324C>A (p.Ile108=) | 2108 | ETFA | Likely benign | 753701756 | RCV002087390; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584799 | 76584799 | | | 76584799 | - | | |
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn) | 2108 | ETFA | Uncertain significance | 1414148078 | RCV000696645|RCV001825367; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 15 | 76584800 | 76584800 | | | NC_000015.9:g.76584800A>T | - | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr) | 2108 | ETFA | Uncertain significance | -1 | RCV002791315; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584800 | 76584800 | | | NC_000015.9:g.76584800A>G | - | | |
NM_000126.4(ETFA):c.319_322del (p.His107fs) | 2108 | ETFA | Pathogenic/Likely pathogenic | 866218814 | RCV001781054; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584801 | 76584804 | | | 76584800 | - | | |
NM_000126.4(ETFA):c.321_322del (p.Ile108fs) | 2108 | ETFA | Pathogenic | 866218814 | RCV001939556; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584801 | 76584802 | | | 76584800 | - | | |
NM_000126.4(ETFA):c.321C>T (p.His107=) | 2108 | ETFA | Likely benign | 368550471 | RCV001277760; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584802 | 76584802 | | | 15:g.76584802G>A | - | | |
NM_000126.4(ETFA):c.300G>T (p.Gln100His) | 2108 | ETFA | Uncertain significance | 948361766 | RCV001912666; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584823 | 76584823 | | | 76584823 | - | | |
NM_000126.4(ETFA):c.297T>C (p.Thr99=) | 2108 | ETFA | Likely benign | 2141540022 | RCV002133867; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584826 | 76584826 | | | 76584826 | - | | |
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala) | 2108 | ETFA | Uncertain significance | -1 | RCV002629837; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584828 | 76584828 | | | NC_000015.9:g.76584828T>C | - | | |
NM_000126.4(ETFA):c.294A>C (p.Ala98=) | 2108 | ETFA | Likely benign | 1458002715 | RCV001424599; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584829 | 76584829 | | | 76584829 | - | | |
NM_000126.4(ETFA):c.285del (p.Ile96fs) | 2108 | ETFA | Pathogenic | 2039775781 | RCV001987524; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584838 | 76584838 | | | 76584837 | - | | |
NM_000126.4(ETFA):c.284dup (p.Leu95fs) | 2108 | ETFA | Pathogenic/Likely pathogenic | -1 | RCV002942141; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584838 | 76584839 | | | NC_000015.9:g.76584840dup | - | | |
NM_000126.4(ETFA):c.283T>C (p.Leu95=) | 2108 | ETFA | Likely benign | 759065701 | RCV001405803; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584840 | 76584840 | | | 76584840 | - | | |
NM_000126.4(ETFA):c.273A>G (p.Glu91=) | 2108 | ETFA | Likely benign | 1043494451 | RCV001481733; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584850 | 76584850 | | | 76584850 | - | | |
NM_000126.4(ETFA):c.269-5C>T | 2108 | ETFA | Likely benign | 2039776155 | RCV001484817; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584859 | 76584859 | | | 76584859 | - | | |
NM_000126.4(ETFA):c.269-8A>G | 2108 | ETFA | Uncertain significance | 1440046169 | RCV001970276; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584862 | 76584862 | | | 76584862 | - | | |
NM_000126.4(ETFA):c.269-15G>A | 2108 | ETFA | Likely benign | 371793833 | RCV002090358; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584869 | 76584869 | | | 76584869 | - | | |
NM_000126.4(ETFA):c.268+18A>G | 2108 | ETFA | Likely benign | 757775846 | RCV002085223; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584942 | 76584942 | | | 76584942 | - | | |
NM_000126.4(ETFA):c.268+11C>G | 2108 | ETFA | Likely benign | -1 | RCV002976366; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584949 | 76584949 | | | NC_000015.9:g.76584949G>C | - | | |
NM_000126.4(ETFA):c.268+3G>A | 2108 | ETFA | Uncertain significance | 1160396237 | RCV001118069; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584957 | 76584957 | | | 15:g.76584957C>T | - | | |
NM_000126.4(ETFA):c.268+1G>A | 2108 | ETFA | Likely pathogenic | -1 | RCV003104196; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584959 | 76584959 | | | NC_000015.9:g.76584959C>T | - | | |
NM_000126.4(ETFA):c.268+1G>C | 2108 | ETFA | Likely pathogenic | -1 | RCV003475604; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584959 | 76584959 | | | | - | | |
NM_000126.4(ETFA):c.266del (p.Pro89fs) | 2108 | ETFA | Likely pathogenic | -1 | RCV003475606; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584962 | 76584962 | | | | - | | |
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser) | 2108 | ETFA | Uncertain significance | 2039778041 | RCV001313856; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584963 | 76584963 | | | 76584963 | - | | |
NM_000126.4(ETFA):c.264T>G (p.Leu88=) | 2108 | ETFA | Likely benign | 1405829462 | RCV001403966; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584964 | 76584964 | | | 76584964 | - | | |
NM_000126.4(ETFA):c.264T>A (p.Leu88=) | 2108 | ETFA | Likely benign | 1405829462 | RCV002142479; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584964 | 76584964 | | | 76584964 | - | | |
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro) | 2108 | ETFA | Uncertain significance | 1400343293 | RCV001931176; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584965 | 76584965 | | | 76584965 | - | | |
NM_000126.4(ETFA):c.245A>T (p.Asp82Val) | 2108 | ETFA | Uncertain significance | -1 | RCV002620893; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584983 | 76584983 | | | NC_000015.9:g.76584983T>A | - | | |
NM_000126.4(ETFA):c.242A>C (p.His81Pro) | 2108 | ETFA | Uncertain significance | -1 | RCV003140452; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584986 | 76584986 | | | NC_000015.9:g.76584986T>G | - | | |
NM_000126.4(ETFA):c.240G>A (p.Gln80=) | 2108 | ETFA | Likely benign | 2141540395 | RCV001401778; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584988 | 76584988 | | | 76584988 | - | | |
NM_000126.4(ETFA):c.238C>T (p.Gln80Ter) | 2108 | ETFA | Likely pathogenic | -1 | RCV003475601; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76584990 | 76584990 | | | | - | | |
NM_000126.4(ETFA):c.228T>C (p.Val76=) | 2108 | ETFA | Likely benign | 1277270558 | RCV001495933; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585000 | 76585000 | | | 76585000 | - | | |
NM_000126.4(ETFA):c.226del (p.Val76fs) | 2108 | ETFA | Likely pathogenic | -1 | RCV003475598; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585002 | 76585002 | | | | - | | |
NM_000126.4(ETFA):c.222A>G (p.Ala74=) | 2108 | ETFA | Likely benign | 2141540424 | RCV001506009; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585006 | 76585006 | | | 76585006 | - | | |
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr) | 2108 | ETFA | Uncertain significance | 2039778846 | RCV001277761; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585010 | 76585010 | | | 15:g.76585010A>G | - | | |
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp) | 2108 | ETFA | Uncertain significance | 758004001 | RCV000185866|RCV001241625|RCV002516966; | N | MedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 15 | 76585013 | 76585013 | | | 15:g.76585013C>T | ClinGen:CA312483 | CN169374 not specified; | |
NM_000126.4(ETFA):c.210A>G (p.Val70=) | 2108 | ETFA | Likely benign | 1274661227 | RCV002164724; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585018 | 76585018 | | | 76585018 | - | | |
NM_000126.4(ETFA):c.210A>T (p.Val70=) | 2108 | ETFA | Likely benign | -1 | RCV002837893; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585018 | 76585018 | | | | - | | |
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer) | 2108 | ETFA | Likely pathogenic | -1 | RCV003476350; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585024 | 76585025 | | | | - | | |
NM_000126.4(ETFA):c.201C>G (p.Leu67=) | 2108 | ETFA | Likely benign | 1250916782 | RCV001406265; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585027 | 76585027 | | | 76585027 | - | | |
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly) | 2108 | ETFA | Uncertain significance | 201888260 | RCV001277762; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585031 | 76585031 | | | 15:g.76585031T>C | - | | |
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter) | 2108 | ETFA | Likely pathogenic | -1 | RCV003475599; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585035 | 76585035 | | | | - | | |
NM_000126.4(ETFA):c.189G>A (p.Val63=) | 2108 | ETFA | Likely benign | 1179483198 | RCV001450380; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585039 | 76585039 | | | 76585039 | - | | |
NM_000126.4(ETFA):c.187-3T>C | 2108 | ETFA | Uncertain significance | -1 | RCV002617453; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585044 | 76585044 | | | NC_000015.9:g.76585044A>G | - | | |
NM_000126.4(ETFA):c.187-4A>T | 2108 | ETFA | Likely benign | 745823838 | RCV001468610; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585045 | 76585045 | | | 76585045 | - | | |
NM_000126.4(ETFA):c.187-13C>A | 2108 | ETFA | Likely benign | -1 | RCV003090582; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76585054 | 76585054 | | | NC_000015.9:g.76585054G>T | - | | |
NM_000126.4(ETFA):c.186+16G>T | 2108 | ETFA | Benign | 146932936 | RCV000435269|RCV001523630; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587916 | 76587916 | | | 15:g.76587916C>A | ClinGen:CA7673847 | CN169374 not specified; | |
NM_000126.4(ETFA):c.186+9T>A | 2108 | ETFA | Likely benign | 1596224309 | RCV001446668; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587923 | 76587923 | | | 15:g.76587923A>T | - | | |
NM_000126.4(ETFA):c.186+9T>C | 2108 | ETFA | Likely benign | 1596224309 | RCV001425444; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587923 | 76587923 | | | 76587923 | - | | |
NM_000126.4(ETFA):c.186+7A>G | 2108 | ETFA | Conflicting interpretations of pathogenicity | 184587113 | RCV000185862|RCV000323787|RCV000676980|RCV001833109; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900| | 15 | 76587925 | 76587925 | | | NC_000015.9:g.76587925T>C | ClinGen:CA312476 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.186+1G>A | 2108 | ETFA | Likely pathogenic | 2141543695 | RCV002036201; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587931 | 76587931 | | | 76587931 | - | | |
NM_000126.4(ETFA):c.183C>T (p.Asp61=) | 2108 | ETFA | Likely benign | 2141543697 | RCV001479813; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587935 | 76587935 | | | 76587935 | - | | |
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly) | 2108 | ETFA | Uncertain significance | -1 | RCV002726560; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587940 | 76587940 | | | NC_000015.9:g.76587940A>C | - | | |
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser) | 2108 | ETFA | Uncertain significance | 1166705959 | RCV001330795; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587945 | 76587945 | | | 76587945 | - | | |
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala) | 2108 | ETFA | Uncertain significance | 146299082 | RCV001277763; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587948 | 76587948 | | | 15:g.76587948C>G | - | | |
NM_000126.4(ETFA):c.170G>T (p.Gly57Val) | 2108 | ETFA | Uncertain significance | -1 | RCV003023750; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587948 | 76587948 | | | NC_000015.9:g.76587948C>A | - | | |
NM_000126.4(ETFA):c.165A>G (p.Val55=) | 2108 | ETFA | Likely benign | 2039810025 | RCV001395133; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587953 | 76587953 | | | 76587953 | - | | |
NM_000126.4(ETFA):c.163G>A (p.Val55Ile) | 2108 | ETFA | Uncertain significance | 1035217923 | RCV002019449; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587955 | 76587955 | | | 76587955 | - | | |
NM_000126.4(ETFA):c.156C>T (p.Ser52=) | 2108 | ETFA | Likely benign | 2141543739 | RCV001455785; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587962 | 76587962 | | | 76587962 | - | | |
NM_000126.4(ETFA):c.153G>A (p.Val51=) | 2108 | ETFA | Likely benign | 2039810189 | RCV001482146; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587965 | 76587965 | | | 76587965 | - | | |
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys) | 2108 | ETFA | Uncertain significance | 780880209 | RCV001997329|RCV003348679; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 15 | 76587970 | 76587970 | | | 76587970 | - | | |
NM_000126.4(ETFA):c.141T>G (p.Leu47=) | 2108 | ETFA | Likely benign | 2141543772 | RCV001491571; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587977 | 76587977 | | | 76587977 | - | | |
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del) | 2108 | ETFA | Uncertain significance | -1 | RCV002685707; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587978 | 76588049 | | | NC_000015.9:g.76587981_76588052del | - | | |
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys) | 2108 | ETFA | Uncertain significance | -1 | RCV003079793; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587982 | 76587982 | | | NC_000015.9:g.76587982G>A | - | | |
NM_000126.4(ETFA):c.120C>T (p.Thr40=) | 2108 | ETFA | Likely benign | -1 | RCV002871756; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76587998 | 76587998 | | | | - | | |
NM_000126.4(ETFA):c.100G>A (p.Ala34Thr) | 2108 | ETFA | Uncertain significance | -1 | RCV003038278; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588018 | 76588018 | | | NC_000015.9:g.76588018C>T | - | | |
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp) | 2108 | ETFA | Uncertain significance | 2039810890 | RCV001978524; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588030 | 76588030 | | | 76588030 | - | | |
NM_000126.4(ETFA):c.84T>C (p.His28=) | 2108 | ETFA | Likely benign | -1 | RCV003085459; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588034 | 76588034 | | | | - | | |
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp) | 2108 | ETFA | Uncertain significance | 772068605 | RCV000809428; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588037 | 76588037 | | | 15:g.76588037C>G | - | | |
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys) | 2108 | ETFA | Uncertain significance | 2141543849 | RCV001991552; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588039 | 76588039 | | | 76588039 | - | | |
NM_000126.4(ETFA):c.78T>C (p.Ala26=) | 2108 | ETFA | Conflicting interpretations of pathogenicity | 773298687 | RCV001118070; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588040 | 76588040 | | | 15:g.76588040A>G | - | | |
NM_000126.4(ETFA):c.77C>T (p.Ala26Val) | 2108 | ETFA | Uncertain significance | 1389901296 | RCV002048833; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588041 | 76588041 | | | 76588041 | - | | |
NM_000126.4(ETFA):c.66C>T (p.Thr22=) | 2108 | ETFA | Conflicting interpretations of pathogenicity | 370375322 | RCV001118071; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588052 | 76588052 | | | 15:g.76588052G>A | - | | |
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg) | 2108 | ETFA | Uncertain significance | 1596224387 | RCV000824188; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588055 | 76588055 | | | 15:g.76588055A>C | - | | |
NM_000126.4(ETFA):c.54A>G (p.Arg18=) | 2108 | ETFA | Likely benign | 2141543902 | RCV002121738; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588064 | 76588064 | | | 76588064 | - | | |
NM_000126.4(ETFA):c.53G>A (p.Arg18Gln) | 2108 | ETFA | Uncertain significance | -1 | RCV002610473; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588065 | 76588065 | | | NC_000015.9:g.76588065C>T | - | | |
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter) | 2108 | ETFA | Pathogenic | 754202690 | RCV000824641|RCV001564261|RCV002538204; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900|MeSH:D030342,MedGen:C0950123 | 15 | 76588066 | 76588066 | | | 15:g.76588066G>A | - | | |
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter) | 2108 | ETFA | Pathogenic | 1047426224 | RCV001951135; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588074 | 76588074 | | | 76588074 | - | | |
NM_000126.4(ETFA):c.40-8C>T | 2108 | ETFA | Likely benign | 1380119459 | RCV002195552; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588086 | 76588086 | | | 76588086 | - | | |
NM_000126.4(ETFA):c.40-17_40-8del | 2108 | ETFA | Likely benign | -1 | RCV002846287; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588086 | 76588095 | | | NC_000015.9:g.76588088_76588097del | - | | |
NM_000126.4(ETFA):c.40-10C>T | 2108 | ETFA | Likely benign | 546196896 | RCV000945721; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588088 | 76588088 | | | 15:g.76588088G>A | - | | |
NM_000126.4(ETFA):c.40-16T>G | 2108 | ETFA | Likely benign | 1402206099 | RCV002210414; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588094 | 76588094 | | | 76588094 | - | | |
NM_000126.4(ETFA):c.40-19dup | 2108 | ETFA | Benign | 755841159 | RCV002096311; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588096 | 76588097 | | | 76588096 | - | | |
NM_000126.4(ETFA):c.40-19del | 2108 | ETFA | Benign | -1 | RCV003062925; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76588097 | 76588097 | | | NC_000015.9:g.76588105del | - | | |
NC_000015.9:g.(?_76603671)_(76603729_?)dup | 2108 | ETFA | Uncertain significance | -1 | RCV003119343; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603671 | 76603729 | | | | - | | |
NM_000126.4(ETFA):c.39+12C>G | 2108 | ETFA | Benign | 62027051 | RCV000078133|RCV000371483|RCV001610351; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 15 | 76603679 | 76603679 | | | 15:g.76603679G>C | ClinGen:CA145743 | C0268596 231680 Glutaric aciduria, type 2; | |
NC_000015.10:g.(?_76311340)_(76311398_?)del | 2108 | ETFA | Pathogenic | -1 | RCV001033702; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603681 | 76603739 | | | -1 | - | | |
NM_000126.4(ETFA):c.39+9G>A | 2108 | ETFA | Likely benign | 2039995773 | RCV001465554; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603682 | 76603682 | | | 76603682 | - | | |
NM_000126.4(ETFA):c.39+8C>T | 2108 | ETFA | Likely benign | 771448257 | RCV001396775; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603683 | 76603683 | | | 76603683 | - | | |
NM_000126.4(ETFA):c.39+8C>G | 2108 | ETFA | Likely benign | -1 | RCV002880867; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603683 | 76603683 | | | NC_000015.9:g.76603683G>C | - | | |
NM_000126.4(ETFA):c.39G>A (p.Ala13=) | 2108 | ETFA | Uncertain significance | 776956043 | RCV001278287; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603691 | 76603691 | | | 15:g.76603691C>T | - | | |
NM_000126.4(ETFA):c.36G>A (p.Arg12=) | 2108 | ETFA | Uncertain significance | 1299355915 | RCV001278288; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603694 | 76603694 | | | 15:g.76603694C>T | - | | |
NM_000126.4(ETFA):c.32G>A (p.Arg11Gln) | 2108 | ETFA | Uncertain significance | -1 | RCV003066888; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603698 | 76603698 | | | NC_000015.9:g.76603698C>T | - | | |
NM_000126.4(ETFA):c.30C>T (p.Leu10=) | 2108 | ETFA | Likely benign | 1042921735 | RCV000534010; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603700 | 76603700 | | | 15:g.76603700G>A | ClinGen:CA14148867 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.30C>G (p.Leu10=) | 2108 | ETFA | Likely benign | 1042921735 | RCV002123203; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603700 | 76603700 | | | 76603700 | - | | |
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs) | 2108 | ETFA | Pathogenic | 1384386872 | RCV001092618|RCV001784643; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603704 | 76603705 | | | 15:g.76603704_76603705insGCCCCGGAGCC | - | | |
NM_000126.4(ETFA):c.24G>A (p.Gly8=) | 2108 | ETFA | Likely benign | 2141564548 | RCV001395128; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603706 | 76603706 | | | 76603706 | - | | |
NM_000126.4(ETFA):c.24G>C (p.Gly8=) | 2108 | ETFA | Likely benign | 2141564548 | RCV002202245; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603706 | 76603706 | | | 76603706 | - | | |
NM_000126.4(ETFA):c.21G>C (p.Pro7=) | 2108 | ETFA | Likely benign | 903002200 | RCV000606269|RCV001505081; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603709 | 76603709 | | | 15:g.76603709C>G | ClinGen:CA273705489 | CN169374 not specified; | |
NM_000126.4(ETFA):c.21G>A (p.Pro7=) | 2108 | ETFA | Likely benign | 903002200 | RCV002142094; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603709 | 76603709 | | | 76603709 | - | | |
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) | 2108 | ETFA | Uncertain significance | 557160401 | RCV000702647|RCV002292481; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 15 | 76603710 | 76603710 | | | 15:g.76603710G>A | - | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del) | 2108 | ETFA | Uncertain significance | -1 | RCV003048809; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603714 | 76603740 | | | NC_000015.9:g.76603721_76603747del | - | | |
NM_000126.4(ETFA):c.15G>A (p.Ala5=) | 2108 | ETFA | Likely benign | 1253564653 | RCV002092618; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603715 | 76603715 | | | 76603715 | - | | |
NM_000126.4(ETFA):c.11C>T (p.Ala4Val) | 2108 | ETFA | Uncertain significance | 761552468 | RCV001912328; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603719 | 76603719 | | | 76603719 | - | | |
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro) | 2108 | ETFA | Uncertain significance | 2141564581 | RCV001991598; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603722 | 76603722 | | | 76603722 | - | | |
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter) | 2108 | ETFA | Likely pathogenic | 1475984278 | RCV000985194; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603723 | 76603723 | | | 15:g.76603723G>A | - | | |
NM_000126.4(ETFA):c.6C>T (p.Phe2=) | 2108 | ETFA | Conflicting interpretations of pathogenicity | 749929239 | RCV000341012|RCV000725409|RCV001079275|RCV001272689; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 15 | 76603724 | 76603724 | | | 15:g.76603724G>A | ClinGen:CA7673900 | CN169374 not specified; | |
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) | 2108 | ETFA | Conflicting interpretations of pathogenicity | 727503918 | RCV000153198|RCV000324694; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603728 | 76603728 | | | 15:g.76603728A>G | ClinGen:CA295613 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.-7G>A | 2108 | ETFA | Uncertain significance | 779643894 | RCV000279388; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603736 | 76603736 | | | NC_000015.9:g.76603736C>T | ClinGen:CA7673901 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.-9G>T | 2108 | ETFA | Uncertain significance | 754953251 | RCV001278289; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603738 | 76603738 | | | 15:g.76603738C>A | - | | |
NM_000126.4(ETFA):c.-40G>A | 2108 | ETFA | Uncertain significance | 1057521597 | RCV001330796|RCV001703800; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 15 | 76603769 | 76603769 | | | 15:g.76603769C>T | ClinGen:CA16607876 | CN169374 not specified; | |
NM_000126.4(ETFA):c.-42C>T | 2108 | ETFA | Conflicting interpretations of pathogenicity | 546128998 | RCV000432359|RCV001119611; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603771 | 76603771 | | | 15:g.76603771G>A | ClinGen:CA16606783 | CN169374 not specified; | |
NM_000126.4(ETFA):c.-56C>A | 2108 | ETFA | Uncertain significance | 548701046 | RCV000337033; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603785 | 76603785 | | | NC_000015.9:g.76603785G>T | ClinGen:CA10642584 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.-59C>T | 2108 | ETFA | Uncertain significance | 80155214 | RCV000375267; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603788 | 76603788 | | | NC_000015.9:g.76603788G>A | ClinGen:CA10646616 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.-71T>C | 2108 | ETFA | Likely benign | 116149551 | RCV000292449|RCV001549300; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 15 | 76603800 | 76603800 | | | NC_000015.9:g.76603800A>G | ClinGen:CA10647420 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_000126.4(ETFA):c.-71T>G | 2108 | ETFA | Uncertain significance | 116149551 | RCV001119612; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 15 | 76603800 | 76603800 | | | 15:g.76603800A>C | - | | |
NC_000019.9:g.(?_51727962)_(51890697_?)del | 2109 | ETFB | Pathogenic | -1 | RCV003107570; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51727962 | 51890697 | | | | - | | |
NC_000019.9:g.(?_51848465)_(51856564_?)dup | 2109 | ETFB | Uncertain significance | -1 | RCV003107571; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848465 | 51856564 | | | | - | | |
NM_001985.3(ETFB):c.762G>T (p.Arg254=) | 2109 | ETFB | Likely benign | 2123567151 | RCV002147978; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848471 | 51848471 | | | 51848471 | - | | |
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln) | 2109 | ETFB | Uncertain significance | 145173884 | RCV000814113; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848472 | 51848472 | | | 19:g.51848472C>T | - | | |
NM_001985.3(ETFB):c.760C>T (p.Arg254Trp) | 2109 | ETFB | Uncertain significance | 370522844 | RCV001866543; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848473 | 51848473 | | | 51848473 | - | | |
NM_001985.3(ETFB):c.726T>C (p.Thr242=) | 2109 | ETFB | Likely benign | -1 | RCV002785862; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848507 | 51848507 | | | | - | | |
NM_001985.3(ETFB):c.715G>A (p.Val239Met) | 2109 | ETFB | Uncertain significance | -1 | RCV003013691; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848518 | 51848518 | | | NC_000019.9:g.51848518C>T | - | | |
NM_001985.3(ETFB):c.709G>A (p.Val237Ile) | 2109 | ETFB | Conflicting interpretations of pathogenicity | 149129214 | RCV000416208|RCV000809414|RCV002516967; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 19 | 51848524 | 51848524 | | | NC_000019.9:g.51848524C>T | ClinGen:CA312500 | CN517202 not provided; | |
NM_001985.3(ETFB):c.708C>T (p.Gly236=) | 2109 | ETFB | Likely benign | 749837573 | RCV001450172; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848525 | 51848525 | | | 19:g.51848525G>A | - | | |
NM_001985.3(ETFB):c.706G>A (p.Gly236Ser) | 2109 | ETFB | Uncertain significance | 375326450 | RCV001997464|RCV003355704; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 19 | 51848527 | 51848527 | | | 51848527 | - | | |
NM_001985.3(ETFB):c.705C>T (p.Ala235=) | 2109 | ETFB | Likely benign | 760012472 | RCV001484711; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848528 | 51848528 | | | 51848528 | - | | |
NM_001985.3(ETFB):c.705C>A (p.Ala235=) | 2109 | ETFB | Likely benign | -1 | RCV002746281; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848528 | 51848528 | | | | - | | |
NM_001985.3(ETFB):c.702G>A (p.Thr234=) | 2109 | ETFB | Likely benign | 769668781 | RCV000429243|RCV001480063; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848531 | 51848531 | | | 19:g.51848531C>T | ClinGen:CA9610676 | CN169374 not specified; | |
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys) | 2109 | ETFB | Uncertain significance | 761714465 | RCV000634897; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848536 | 51848536 | | | 19:g.51848536G>A | ClinGen:CA9610679 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu) | 2109 | ETFB | Uncertain significance | 200877363 | RCV001210914; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848546 | 51848546 | | | 19:g.51848546G>T | - | | |
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys) | 2109 | ETFB | Uncertain significance | 2123567525 | RCV001917978; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848557 | 51848557 | | | 51848557 | - | | |
NM_001985.3(ETFB):c.671_672del (p.Val224fs) | 2109 | ETFB | Likely pathogenic | -1 | RCV003476356; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848561 | 51848562 | | | | - | | |
NM_001985.3(ETFB):c.666C>T (p.Leu222=) | 2109 | ETFB | Likely benign | -1 | RCV002658354; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848567 | 51848567 | | | | - | | |
NM_001985.3(ETFB):c.645dup (p.Val216fs) | 2109 | ETFB | Uncertain significance | 1428088327 | RCV001315538|RCV002222695; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN169374 | 19 | 51848587 | 51848588 | | | 51848587 | - | | |
NM_001985.3(ETFB):c.636G>A (p.Gly212=) | 2109 | ETFB | Likely benign | -1 | RCV002953155; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848597 | 51848597 | | | | - | | |
NM_001985.3(ETFB):c.632C>A (p.Pro211His) | 2109 | ETFB | Uncertain significance | 760907327 | RCV001050507; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848601 | 51848601 | | | 19:g.51848601G>T | - | | |
NM_001985.3(ETFB):c.631C>T (p.Pro211Ser) | 2109 | ETFB | Uncertain significance | -1 | RCV003051501; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848602 | 51848602 | | | NC_000019.9:g.51848602G>A | - | | |
NM_001985.3(ETFB):c.622G>A (p.Val208Met) | 2109 | ETFB | Uncertain significance | -1 | RCV003005842; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848611 | 51848611 | | | NC_000019.9:g.51848611C>T | - | | |
NM_001985.3(ETFB):c.618C>T (p.Ile206=) | 2109 | ETFB | Benign | 533794107 | RCV000890204; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848615 | 51848615 | | | 19:g.51848615G>A | - | | |
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del) | 2109 | ETFB | Uncertain significance | 767519060 | RCV001940732; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848617 | 51848619 | | | 51848616 | - | | |
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg) | 2109 | ETFB | Uncertain significance | -1 | RCV002296145; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848622 | 51848622 | | | 51848622 | - | | |
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu) | 2109 | ETFB | Uncertain significance | 920672041 | RCV000555412; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848635 | 51848635 | | | 19:g.51848635T>C | ClinGen:CA9610699 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_001985.3(ETFB):c.598-1del | 2109 | ETFB | Conflicting interpretations of pathogenicity | 750961823 | RCV000996996|RCV003473538; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848636 | 51848636 | | | 19:g.51848636_51848636del | - | | |
NM_001985.3(ETFB):c.598-3C>T | 2109 | ETFB | Uncertain significance | -1 | RCV002842723; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848638 | 51848638 | | | NC_000019.9:g.51848638G>A | - | | |
NM_001985.3(ETFB):c.598-14C>T | 2109 | ETFB | Likely benign | 750381743 | RCV000602767|RCV002529709; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51848649 | 51848649 | | | 19:g.51848649G>A | ClinGen:CA9610701 | CN169374 not specified; | |
NM_001985.3(ETFB):c.597+12_597+25del | 2109 | ETFB | Likely benign | 756531454 | RCV002195704; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850129 | 51850142 | | | 51850128 | - | | |
NM_001985.3(ETFB):c.597+18G>A | 2109 | ETFB | Likely benign | -1 | RCV002604644; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850136 | 51850136 | | | NC_000019.9:g.51850136C>T | - | | |
NM_001985.3(ETFB):c.597+17C>A | 2109 | ETFB | Likely benign | 372586153 | RCV001703705|RCV001861522; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850137 | 51850137 | | | 19:g.51850137G>T | ClinGen:CA16609029 | CN169374 not specified; | |
NM_001985.3(ETFB):c.597+17C>G | 2109 | ETFB | Likely benign | -1 | RCV003073332; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850137 | 51850137 | | | NC_000019.9:g.51850137G>C | - | | |
NM_001985.3(ETFB):c.597+13C>G | 2109 | ETFB | Likely benign | -1 | RCV002736576; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850141 | 51850141 | | | NC_000019.9:g.51850141G>C | - | | |
NM_001985.3(ETFB):c.597+9C>G | 2109 | ETFB | Likely benign | 1985800060 | RCV002200532; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850145 | 51850145 | | | 51850145 | - | | |
NM_001985.3(ETFB):c.597+8C>T | 2109 | ETFB | Likely benign | 758639864 | RCV000611522|RCV002528605; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850146 | 51850146 | | | 19:g.51850146G>A | ClinGen:CA9610712 | CN169374 not specified; | |
NM_001985.3(ETFB):c.597+6C>T | 2109 | ETFB | Uncertain significance | 539989327 | RCV001937375; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850148 | 51850148 | | | 51850148 | - | | |
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp) | 2109 | ETFB | Uncertain significance | 747411704 | RCV002020352; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850162 | 51850162 | | | 51850162 | - | | |
NM_001985.3(ETFB):c.588C>G (p.Pro196=) | 2109 | ETFB | Likely benign | -1 | RCV002745717; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850163 | 51850163 | | | | - | | |
NM_001985.3(ETFB):c.582G>A (p.Thr194=) | 2109 | ETFB | Likely benign | 376679757 | RCV000610051|RCV002063990; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850169 | 51850169 | | | 19:g.51850169C>T | ClinGen:CA9610715 | CN169374 not specified; | |
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) | 2109 | ETFB | Conflicting interpretations of pathogenicity | 200186078 | RCV000540682|RCV001551094; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 19 | 51850174 | 51850174 | | | 19:g.51850174C>T | ClinGen:CA9610716 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_001985.3(ETFB):c.576C>T (p.Tyr192=) | 2109 | ETFB | Likely benign | 748162444 | RCV002066158; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850175 | 51850175 | | | 19:g.51850175G>A | - | | |
NM_001985.3(ETFB):c.572G>A (p.Arg191His) | 2109 | ETFB | Uncertain significance | 769951998 | RCV001903360; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850179 | 51850179 | | | 51850179 | - | | |
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys) | 2109 | ETFB | Conflicting interpretations of pathogenicity | 772976948 | RCV001916076; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850180 | 51850180 | | | 51850180 | - | | |
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys) | 2109 | ETFB | Conflicting interpretations of pathogenicity | 376065198 | RCV000691202|RCV001551852; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202 | 19 | 51850186 | 51850186 | | | 19:g.51850186C>T | - | C0268596 231680 Glutaric aciduria, type 2; | |
NM_001985.3(ETFB):c.564C>T (p.Asn188=) | 2109 | ETFB | Likely benign | -1 | RCV002571877; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850187 | 51850187 | | | | - | | |
NM_001985.3(ETFB):c.541G>A (p.Val181Met) | 2109 | ETFB | Uncertain significance | 148443220 | RCV001935396; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850210 | 51850210 | | | 51850210 | - | | |
NM_001985.3(ETFB):c.521G>A (p.Arg174His) | 2109 | ETFB | Likely benign | 141917423 | RCV000224154|RCV001088837; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850230 | 51850230 | | | NC_000019.9:g.51850230C>T | ClinGen:CA312498 | CN517202 not provided; | |
NM_001985.3(ETFB):c.520C>G (p.Arg174Gly) | 2109 | ETFB | Uncertain significance | 755539437 | RCV002024486; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850231 | 51850231 | | | 51850231 | - | | |
NM_001985.3(ETFB):c.520C>T (p.Arg174Cys) | 2109 | ETFB | Uncertain significance | -1 | RCV002967305|RCV003410002; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 19 | 51850231 | 51850231 | | | NC_000019.9:g.51850231G>A | - | | |
NM_001985.3(ETFB):c.519G>C (p.Leu173=) | 2109 | ETFB | Likely benign | 933129897 | RCV000437246|RCV002061386; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850232 | 51850232 | | | 19:g.51850232C>G | ClinGen:CA16607940 | CN169374 not specified; | |
NM_001985.3(ETFB):c.504G>C (p.Gly168=) | 2109 | ETFB | Likely benign | -1 | RCV002736579; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850247 | 51850247 | | | | - | | |
NM_001985.3(ETFB):c.499G>C (p.Asp167His) | 2109 | ETFB | Uncertain significance | 140614695 | RCV001900330|RCV002552107; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 19 | 51850252 | 51850252 | | | 51850252 | - | | |
NM_001985.3(ETFB):c.499G>A (p.Asp167Asn) | 2109 | ETFB | Uncertain significance | -1 | RCV002572886; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850252 | 51850252 | | | NC_000019.9:g.51850252C>T | - | | |
NM_001985.3(ETFB):c.498C>T (p.Ile166=) | 2109 | ETFB | Likely benign | 150636733 | RCV000427002|RCV001491358; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850253 | 51850253 | | | 19:g.51850253G>A | ClinGen:CA9610731 | CN169374 not specified; | |
NM_001985.3(ETFB):c.498C>G (p.Ile166Met) | 2109 | ETFB | Uncertain significance | -1 | RCV003093042|RCV003100499; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850253 | 51850253 | | | NC_000019.9:g.51850253G>C | - | | |
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) | 2109 | ETFB | Likely pathogenic | 104894677 | RCV000018200|RCV001235936; | N | MONDO:MONDO:0700074,MedGen:C3278155|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850260 | 51850260 | | | 19:g.51850260C>T | ClinGen:CA126841,UniProtKB:P38117#VAR_002369,OMIM:130410.0001 | C3278155 Glutaric acidemia IIB; | |
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) | 2109 | ETFB | Pathogenic/Likely pathogenic | 148045813 | RCV001939613; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850261 | 51850261 | | | 51850261 | - | | |
NM_001985.3(ETFB):c.480G>A (p.Leu160=) | 2109 | ETFB | Likely benign | 2123572721 | RCV002205012; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850271 | 51850271 | | | 51850271 | - | | |
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) | 2109 | ETFB | Benign | 1130426 | RCV000079961|RCV000676879|RCV000991043; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850290 | 51850290 | | | 19:g.51850290G>A | ClinGen:CA147539,UniProtKB:P38117#VAR_008548 | CN517202 not provided; | |
NM_001985.3(ETFB):c.454C>T (p.Gln152Ter) | 2109 | ETFB | Pathogenic | -1 | RCV002885076; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850297 | 51850297 | | | NC_000019.9:g.51850297G>A | - | | |
NM_001985.3(ETFB):c.452C>T (p.Ser151Phe) | 2109 | ETFB | Conflicting interpretations of pathogenicity | 74735908 | RCV000864900|RCV002245716; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 19 | 51850299 | 51850299 | | | 19:g.51850299G>A | - | | |
NM_001985.3(ETFB):c.450C>A (p.Ala150=) | 2109 | ETFB | Likely benign | -1 | RCV002740188; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850301 | 51850301 | | | | - | | |
NM_001985.3(ETFB):c.447C>T (p.Phe149=) | 2109 | ETFB | Benign | 144640661 | RCV000185875|RCV000676880|RCV001084836; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850304 | 51850304 | | | NC_000019.9:g.51850304G>A | ClinGen:CA312496 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_001985.3(ETFB):c.439-4C>T | 2109 | ETFB | Likely benign | 2035246995 | RCV002209714; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850316 | 51850316 | | | 51850316 | - | | |
NM_001985.3(ETFB):c.439-14C>T | 2109 | ETFB | Likely benign | 756770328 | RCV002094619; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850326 | 51850326 | | | 51850326 | - | | |
NM_001985.3(ETFB):c.439-18T>C | 2109 | ETFB | Likely benign | -1 | RCV002721836; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850330 | 51850330 | | | NC_000019.9:g.51850330A>G | - | | |
NM_001985.3(ETFB):c.439-20C>G | 2109 | ETFB | Likely benign | 755291156 | RCV002158160; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51850332 | 51850332 | | | 51850332 | - | | |
NM_001985.3(ETFB):c.438+20C>T | 2109 | ETFB | Benign | 114985874 | RCV000153199|RCV001521231; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853563 | 51853563 | | | NC_000019.9:g.51853563G>A | ClinGen:CA295615 | CN169374 not specified; | |
NM_001985.3(ETFB):c.438+5G>T | 2109 | ETFB | Uncertain significance | 1450691951 | RCV001982718; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853578 | 51853578 | | | 51853578 | - | | |
NM_001985.3(ETFB):c.438+5G>A | 2109 | ETFB | Uncertain significance | -1 | RCV002909167; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853578 | 51853578 | | | NC_000019.9:g.51853578C>T | - | | |
NM_001985.3(ETFB):c.438+4A>G | 2109 | ETFB | Uncertain significance | -1 | RCV003035901; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853579 | 51853579 | | | NC_000019.9:g.51853579T>C | - | | |
NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAG | 2109 | ETFB | Pathogenic | 2123580195 | RCV001947884; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853594 | 51853595 | | | 51853594 | - | | |
NM_001985.3(ETFB):c.414A>G (p.Thr138=) | 2109 | ETFB | Likely benign | 1178011139 | RCV002098752; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853607 | 51853607 | | | 51853607 | - | | |
NM_001985.3(ETFB):c.411G>A (p.Met137Ile) | 2109 | ETFB | Uncertain significance | -1 | RCV002609387; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853610 | 51853610 | | | NC_000019.9:g.51853610C>T | - | | |
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter) | 2109 | ETFB | Likely pathogenic | -1 | RCV003476353; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853615 | 51853615 | | | | - | | |
NM_001985.3(ETFB):c.402A>G (p.Thr134=) | 2109 | ETFB | Likely benign | 754039782 | RCV002090236; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853619 | 51853619 | | | 51853619 | - | | |
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr) | 2109 | ETFB | Uncertain significance | -1 | RCV003009137; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853626 | 51853626 | | | NC_000019.9:g.51853626T>G | - | | |
NM_001985.3(ETFB):c.393T>C (p.Cys131=) | 2109 | ETFB | Likely benign | 371564310 | RCV001489623; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853628 | 51853628 | | | 19:g.51853628A>G | - | | |
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) | 2109 | ETFB | Conflicting interpretations of pathogenicity | 104894678 | RCV000018202|RCV002513095; | N | MONDO:MONDO:0700074,MedGen:C3278155|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853639 | 51853639 | | | 19:g.51853639C>T | ClinGen:CA126842,UniProtKB:P38117#VAR_025804,OMIM:130410.0003 | C3278155 Glutaric acidemia IIB; | |
NM_001985.3(ETFB):c.376-7C>T | 2109 | ETFB | Likely benign | -1 | RCV003087986; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853652 | 51853652 | | | NC_000019.9:g.51853652G>A | - | | |
NM_001985.3(ETFB):c.376-12C>T | 2109 | ETFB | Likely benign | -1 | RCV002623047; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51853657 | 51853657 | | | NC_000019.9:g.51853657G>A | - | | |
NM_001985.3(ETFB):c.341_375+154del | 2109 | ETFB | Likely pathogenic | -1 | RCV002868020; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856232 | 51856420 | | | NC_000019.9:g.51856238_51856426del | - | | |
NM_001985.3(ETFB):c.375+19C>T | 2109 | ETFB | Likely benign | -1 | RCV002672170; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856367 | 51856367 | | | NC_000019.9:g.51856367G>A | - | | |
NM_001985.3(ETFB):c.375+14G>A | 2109 | ETFB | Likely benign | 757521352 | RCV002102361; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856372 | 51856372 | | | 51856372 | - | | |
NM_001985.3(ETFB):c.375+7G>C | 2109 | ETFB | Likely benign | -1 | RCV003115163; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856379 | 51856379 | | | NC_000019.9:g.51856379C>G | - | | |
NM_001985.3(ETFB):c.375+6T>G | 2109 | ETFB | Uncertain significance | -1 | RCV003076393; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856380 | 51856380 | | | NC_000019.9:g.51856380A>C | - | | |
NM_001985.3(ETFB):c.375+1G>T | 2109 | ETFB | Likely pathogenic | -1 | RCV002470034; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856385 | 51856385 | | | NC_000019.9:g.51856385C>A | - | | |
NM_001985.3(ETFB):c.375+1G>A | 2109 | ETFB | Likely pathogenic | -1 | RCV002976143; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856385 | 51856385 | | | NC_000019.9:g.51856385C>T | - | | |
NM_001985.3(ETFB):c.375+1G>C | 2109 | ETFB | Likely pathogenic | -1 | RCV003476355; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856385 | 51856385 | | | | - | | |
NM_001985.3(ETFB):c.375G>C (p.Gln125His) | 2109 | ETFB | Uncertain significance | -1 | RCV003064593; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856386 | 51856386 | | | NC_000019.9:g.51856386C>G | - | | |
NM_001985.3(ETFB):c.358G>T (p.Val120Leu) | 2109 | ETFB | Uncertain significance | -1 | RCV002601956; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856403 | 51856403 | | | NC_000019.9:g.51856403C>A | - | | |
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly) | 2109 | ETFB | Uncertain significance | -1 | RCV003073141|RCV003073140; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856408 | 51856408 | | | NC_000019.9:g.51856408T>C | - | | |
NM_001985.3(ETFB):c.343_345del (p.Glu115del) | 2109 | ETFB | Uncertain significance | -1 | RCV003100658; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856416 | 51856418 | | | NC_000019.9:g.51856418_51856420del | - | | |
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser) | 2109 | ETFB | Uncertain significance | -1 | RCV003037728; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856427 | 51856427 | | | NC_000019.9:g.51856427C>A | - | | |
NM_001985.3(ETFB):c.326C>A (p.Ala109Asp) | 2109 | ETFB | Uncertain significance | -1 | RCV002765851; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856435 | 51856435 | | | NC_000019.9:g.51856435G>T | - | | |
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp) | 2109 | ETFB | Uncertain significance | 748730384 | RCV001879069|RCV002274230; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 19 | 51856445 | 51856445 | | | 51856445 | - | | |
NM_001985.3(ETFB):c.297G>A (p.Leu99=) | 2109 | ETFB | Likely benign | -1 | RCV002867341; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856464 | 51856464 | | | | - | | |
NM_001985.3(ETFB):c.284_293del (p.Glu95fs) | 2109 | ETFB | Pathogenic | 2123587098 | RCV001783209; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856468 | 51856477 | | | 51856467 | - | | |
NM_001985.3(ETFB):c.293G>A (p.Arg98His) | 2109 | ETFB | Uncertain significance | 761063406 | RCV001979000; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856468 | 51856468 | | | 51856468 | - | | |
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) | 2109 | ETFB | Conflicting interpretations of pathogenicity | 147353781 | RCV000185874|RCV000658852|RCV001086047|RCV001171332; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|Human Phenotype Ontology:HP:0000106,Human Phenotype Ontology:HP:0001918,Human Phenotype Ontology:HP:0008671,Human Phenotype Ontology:HP:0012622,MONDO:MONDO:00 | 19 | 51856469 | 51856469 | | | 19:g.51856469G>A | ClinGen:CA312494 | CN517202 not provided; | |
NM_001985.3(ETFB):c.282A>G (p.Ala94=) | 2109 | ETFB | Likely benign | -1 | RCV003100415; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856479 | 51856479 | | | | - | | |
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) | 2109 | ETFB | Conflicting interpretations of pathogenicity | 139519507 | RCV000415826|RCV000814061|RCV002517821; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 19 | 51856483 | 51856483 | | | NC_000019.9:g.51856483G>A | ClinGen:CA312492 | CN517202 not provided; | |
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser) | 2109 | ETFB | Conflicting interpretations of pathogenicity | 758509148 | RCV001332069; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856487 | 51856487 | | | 51856487 | - | | |
NM_001985.3(ETFB):c.273G>A (p.Val91=) | 2109 | ETFB | Likely benign | -1 | RCV002872746; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856488 | 51856488 | | | | - | | |
NM_001985.3(ETFB):c.267G>A (p.Val89=) | 2109 | ETFB | Likely benign | 984710058 | RCV001424865; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856494 | 51856494 | | | 51856494 | - | | |
NM_001985.3(ETFB):c.264C>T (p.His88=) | 2109 | ETFB | Likely benign | 562266125 | RCV002064722; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856497 | 51856497 | | | 19:g.51856497G>A | - | | |
NM_001985.3(ETFB):c.259A>G (p.Ile87Val) | 2109 | ETFB | Uncertain significance | 2123587270 | RCV001871140; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856502 | 51856502 | | | 51856502 | - | | |
NM_001985.3(ETFB):c.257G>C (p.Gly86Ala) | 2109 | ETFB | Uncertain significance | 143568332 | RCV001985428; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856504 | 51856504 | | | 51856504 | - | | |
NM_001985.3(ETFB):c.257G>T (p.Gly86Val) | 2109 | ETFB | Uncertain significance | -1 | RCV003003194; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856504 | 51856504 | | | NC_000019.9:g.51856504C>A | - | | |
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln) | 2109 | ETFB | Uncertain significance | -1 | RCV003051206|RCV003076432; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856507 | 51856507 | | | NC_000019.9:g.51856507C>T | - | | |
NM_001985.3(ETFB):c.253C>A (p.Arg85=) | 2109 | ETFB | Likely benign | 187424345 | RCV000970547; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856508 | 51856508 | | | 19:g.51856508G>T | - | | |
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter) | 2109 | ETFB | Pathogenic/Likely pathogenic | 187424345 | RCV001244975; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856508 | 51856508 | | | 19:g.51856508G>A | - | | |
NM_001985.3(ETFB):c.252C>T (p.Asp84=) | 2109 | ETFB | Likely benign | 1599842126 | RCV001469751; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856509 | 51856509 | | | 19:g.51856509G>A | - | | |
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr) | 2109 | ETFB | Uncertain significance | 1352787179 | RCV002011512; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856514 | 51856514 | | | 51856514 | - | | |
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr) | 2109 | ETFB | Conflicting interpretations of pathogenicity | 548046212 | RCV000185880|RCV002222436|RCV002513954; | N | MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856529 | 51856529 | | | NC_000019.9:g.51856529C>T | ClinGen:CA312506 | CN517202 not provided; | |
NM_001985.3(ETFB):c.231C>T (p.Thr77=) | 2109 | ETFB | Likely benign | -1 | RCV002962767; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856530 | 51856530 | | | | - | | |
NM_001985.3(ETFB):c.227G>A (p.Arg76His) | 2109 | ETFB | Uncertain significance | 148567433 | RCV000185879|RCV000548291|RCV002513953; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 19 | 51856534 | 51856534 | | | 19:g.51856534C>T | ClinGen:CA312504 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_001985.3(ETFB):c.217-4G>T | 2109 | ETFB | Benign/Likely benign | 149557388 | RCV000634900|RCV001613419; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 19 | 51856548 | 51856548 | | | NC_000019.9:g.51856548C>A | ClinGen:CA9610817 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_001985.3(ETFB):c.217-14T>G | 2109 | ETFB | Likely benign | -1 | RCV002571773; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51856558 | 51856558 | | | NC_000019.9:g.51856558A>C | - | | |
NM_001985.3(ETFB):c.216+18del | 2109 | ETFB | Benign | -1 | RCV003039409; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857386 | 51857386 | | | NC_000019.9:g.51857389del | - | | |
NM_001985.3(ETFB):c.216+12C>T | 2109 | ETFB | Likely benign | -1 | RCV003029343; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857392 | 51857392 | | | NC_000019.9:g.51857392G>A | - | | |
NM_001985.3(ETFB):c.216+10G>A | 2109 | ETFB | Likely benign | -1 | RCV002625244; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857394 | 51857394 | | | NC_000019.9:g.51857394C>T | - | | |
NM_001985.3(ETFB):c.216+7A>G | 2109 | ETFB | Likely benign | 910583174 | RCV001493534; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857397 | 51857397 | | | 51857397 | - | | |
NM_001985.3(ETFB):c.208del (p.Gln70fs) | 2109 | ETFB | Likely pathogenic | -1 | RCV003476357; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857412 | 51857412 | | | | - | | |
NM_001985.3(ETFB):c.190G>A (p.Val64Ile) | 2109 | ETFB | Uncertain significance | -1 | RCV003067514; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857430 | 51857430 | | | NC_000019.9:g.51857430C>T | - | | |
NM_001985.3(ETFB):c.189C>T (p.Ala63=) | 2109 | ETFB | Likely benign | 267605609 | RCV002065955; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857431 | 51857431 | | | 19:g.51857431G>A | - | | |
NM_001985.3(ETFB):c.186C>T (p.Ile62=) | 2109 | ETFB | Likely benign | -1 | RCV003081821; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857434 | 51857434 | | | | - | | |
NM_001985.3(ETFB):c.186C>G (p.Ile62Met) | 2109 | ETFB | Uncertain significance | -1 | RCV003002331; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857434 | 51857434 | | | NC_000019.9:g.51857434G>C | - | | |
NM_001985.3(ETFB):c.184A>G (p.Ile62Val) | 2109 | ETFB | Uncertain significance | 199705168 | RCV001952981|RCV002562826; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 19 | 51857436 | 51857436 | | | 51857436 | - | | |
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln) | 2109 | ETFB | Uncertain significance | -1 | RCV003105205; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857454 | 51857454 | | | NC_000019.9:g.51857454T>G | - | | |
NM_001985.3(ETFB):c.163A>T (p.Lys55Ter) | 2109 | ETFB | Likely pathogenic | -1 | RCV003476352; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857457 | 51857457 | | | | - | | |
NM_001985.3(ETFB):c.152G>A (p.Arg51Gln) | 2109 | ETFB | Uncertain significance | -1 | RCV003085997; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857468 | 51857468 | | | NC_000019.9:g.51857468C>T | - | | |
NM_001985.3(ETFB):c.151C>A (p.Arg51=) | 2109 | ETFB | Likely benign | 1308673942 | RCV001428098; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857469 | 51857469 | | | 51857469 | - | | |
NM_001985.3(ETFB):c.151C>G (p.Arg51Gly) | 2109 | ETFB | Uncertain significance | -1 | RCV003035340; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857469 | 51857469 | | | NC_000019.9:g.51857469G>C | - | | |
NM_001985.3(ETFB):c.142G>A (p.Glu48Lys) | 2109 | ETFB | Uncertain significance | 750117869 | RCV001996102; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857478 | 51857478 | | | 51857478 | - | | |
NM_001985.3(ETFB):c.138G>C (p.Val46=) | 2109 | ETFB | Likely benign | 537142189 | RCV001410982; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857482 | 51857482 | | | 51857482 | - | | |
NM_001985.3(ETFB):c.136del (p.Val46fs) | 2109 | ETFB | Likely pathogenic | -1 | RCV002472164; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857484 | 51857484 | | | NC_000019.9:g.51857485del | - | | |
NM_001985.3(ETFB):c.135G>A (p.Ala45=) | 2109 | ETFB | Likely benign | 372040033 | RCV000600542|RCV003117415; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857485 | 51857485 | | | 19:g.51857485C>T | ClinGen:CA9610854 | CN169374 not specified; | |
NM_001985.3(ETFB):c.134C>T (p.Ala45Val) | 2109 | ETFB | Uncertain significance | 770414295 | RCV001372453|RCV003331137; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN169374 | 19 | 51857486 | 51857486 | | | 51857486 | - | | |
NM_001985.3(ETFB):c.133G>A (p.Ala45Thr) | 2109 | ETFB | Uncertain significance | 151108898 | RCV002017443; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857487 | 51857487 | | | 51857487 | - | | |
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg) | 2109 | ETFB | Pathogenic | -1 | RCV003476359; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857496 | 51857496 | | | | - | | |
NM_001985.3(ETFB):c.123C>T (p.Phe41=) | 2109 | ETFB | Likely benign | -1 | RCV003049180; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857497 | 51857497 | | | | - | | |
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser) | 2109 | ETFB | Uncertain significance | 746082442 | RCV000538071; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857498 | 51857498 | | | NC_000019.9:g.51857498A>G | ClinGen:CA9610860 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_001985.3(ETFB):c.118C>A (p.Pro40Thr) | 2109 | ETFB | Uncertain significance | 772322071 | RCV001244954|RCV003166537; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 19 | 51857502 | 51857502 | | | 19:g.51857502G>T | - | | |
NM_001985.3(ETFB):c.117C>T (p.Asn39=) | 2109 | ETFB | Likely benign | 2123591099 | RCV002220500; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857503 | 51857503 | | | 51857503 | - | | |
NM_001985.3(ETFB):c.113T>C (p.Met38Thr) | 2109 | ETFB | Uncertain significance | 775541180 | RCV001362604; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857507 | 51857507 | | | 51857507 | - | | |
NM_001985.3(ETFB):c.99T>C (p.Gly33=) | 2109 | ETFB | Likely benign | 2123591146 | RCV002037796; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857521 | 51857521 | | | 51857521 | - | | |
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp) | 2109 | ETFB | Uncertain significance | -1 | RCV002755179; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857522 | 51857522 | | | NC_000019.9:g.51857522C>T | - | | |
NM_001985.3(ETFB):c.94del (p.Asp32fs) | 2109 | ETFB | Likely pathogenic | -1 | RCV003476360; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857526 | 51857526 | | | | - | | |
NM_001985.3(ETFB):c.93G>C (p.Thr31=) | 2109 | ETFB | Likely benign | -1 | RCV002624488; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857527 | 51857527 | | | | - | | |
NM_001985.3(ETFB):c.92C>T (p.Thr31Met) | 2109 | ETFB | Uncertain significance | 371751519 | RCV001924272|RCV003348639; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 19 | 51857528 | 51857528 | | | 51857528 | - | | |
NM_001985.3(ETFB):c.90C>A (p.Val30=) | 2109 | ETFB | Likely benign | 1986016385 | RCV002197522; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857530 | 51857530 | | | 51857530 | - | | |
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser) | 2109 | ETFB | Uncertain significance | 750230877 | RCV001925930|RCV002556356; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 19 | 51857538 | 51857538 | | | 51857538 | - | | |
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg) | 2109 | ETFB | Uncertain significance | -1 | RCV002598342; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857538 | 51857538 | | | NC_000019.9:g.51857538C>G | - | | |
NM_001985.3(ETFB):c.81C>T (p.Thr27=) | 2109 | ETFB | Likely benign | 374819445 | RCV002164191; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857539 | 51857539 | | | 51857539 | - | | |
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser) | 2109 | ETFB | Uncertain significance | -1 | RCV002636931; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857542 | 51857542 | | | NC_000019.9:g.51857542C>A | - | | |
NM_001985.3(ETFB):c.62G>A (p.Arg21Gln) | 2109 | ETFB | Uncertain significance | 369216610 | RCV001974033; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857558 | 51857558 | | | 51857558 | - | | |
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter) | 2109 | ETFB | Likely pathogenic | -1 | RCV003476354; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857559 | 51857559 | | | | - | | |
NM_001985.3(ETFB):c.61del (p.Arg21fs) | 2109 | ETFB | Likely pathogenic | -1 | RCV003476358; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857559 | 51857559 | | | | - | | |
NM_001985.3(ETFB):c.58-27C>T | 2109 | ETFB | Uncertain significance | -1 | RCV003148469; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857589 | 51857589 | | | | - | | |
NM_001985.3(ETFB):c.58-57dup | 2109 | ETFB | Benign | 74357706 | RCV000185872|RCV000721998|RCV001535408; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202 | 19 | 51857614 | 51857615 | | | 19:g.51857614_51857615insG | ClinGen:CA312491 | CN169374 not specified; | |
NM_001985.3(ETFB):c.58-57C>T | 2109 | ETFB | Likely pathogenic | 766066977 | RCV000985168; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857619 | 51857619 | | | 19:g.51857619G>A | - | | |
NM_001985.3(ETFB):c.58-87A>C | 2109 | ETFB | Uncertain significance | 1986023015 | RCV001330124|RCV003416218; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 19 | 51857649 | 51857649 | | | 51857649 | - | | |
NM_001985.3(ETFB):c.58-96G>A | 2109 | ETFB | Benign/Likely benign | 140608276 | RCV000124914|RCV000224344|RCV002055530; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857658 | 51857658 | | | NC_000019.9:g.51857658C>T | ClinGen:CA290767 | CN517202 not provided; | |
NM_001985.3(ETFB):c.58-196_58-194del | 2109 | ETFB | Uncertain significance | 768440463 | RCV000721999; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51857756 | 51857758 | | | NC_000019.9:g.51857758_51857760del | - | | |
NM_001985.3(ETFB):c.58-212A>C | 2109 | ETFB | Benign/Likely benign | 143144671 | RCV000124911|RCV000625041|RCV000996998; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 19 | 51857774 | 51857774 | | | 19:g.51857774T>G | ClinGen:CA290761 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_001985.3(ETFB):c.58-318_58-313dup | 2109 | ETFB | Benign | 61361626 | RCV000722009|RCV001704963; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 19 | 51857874 | 51857875 | | | 19:g.51857874_51857875insCCACAG | ClinGen:CA312489 | CN169374 not specified; | |
NM_001985.3(ETFB):c.57+16del | 2109 | ETFB | Likely benign | 529887209 | RCV002164186; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869508 | 51869508 | | | 51869507 | - | | |
NM_001985.3(ETFB):c.57+14C>G | 2109 | ETFB | Likely benign | -1 | RCV003104803; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869510 | 51869510 | | | NC_000019.9:g.51869510G>C | - | | |
NM_001985.3(ETFB):c.57+7G>C | 2109 | ETFB | Likely benign | 759897705 | RCV001501386; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869517 | 51869517 | | | 19:g.51869517C>G | - | | |
NM_001985.3(ETFB):c.52G>T (p.Val18Leu) | 2109 | ETFB | Uncertain significance | -1 | RCV002819796; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869529 | 51869529 | | | NC_000019.9:g.51869529C>A | - | | |
NM_001985.3(ETFB):c.49G>T (p.Ala17Ser) | 2109 | ETFB | Uncertain significance | -1 | RCV003078435; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869532 | 51869532 | | | NC_000019.9:g.51869532C>A | - | | |
NM_001985.3(ETFB):c.48C>T (p.Tyr16=) | 2109 | ETFB | Likely benign | 1201149156 | RCV002169907; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869533 | 51869533 | | | 51869533 | - | | |
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu) | 2109 | ETFB | Uncertain significance | 148261223 | RCV001944138|RCV002561431; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 19 | 51869541 | 51869541 | | | 51869541 | - | | |
NM_001985.3(ETFB):c.32dup (p.Arg12fs) | 2109 | ETFB | Likely pathogenic | -1 | RCV003476351; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869548 | 51869549 | | | | - | | |
NM_001985.3(ETFB):c.22G>A (p.Val8Ile) | 2109 | ETFB | Uncertain significance | 531136177 | RCV001932399|RCV002550998; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 19 | 51869559 | 51869559 | | | 51869559 | - | | |
NM_001985.3(ETFB):c.22G>C (p.Val8Leu) | 2109 | ETFB | Uncertain significance | -1 | RCV003115235; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869559 | 51869559 | | | NC_000019.9:g.51869559C>G | - | | |
NM_001985.3(ETFB):c.18G>C (p.Val6=) | 2109 | ETFB | Likely benign | 572600030 | RCV002143936; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869563 | 51869563 | | | 51869563 | - | | |
NM_001985.3(ETFB):c.15C>T (p.Arg5=) | 2109 | ETFB | Likely benign | -1 | RCV002754970; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869566 | 51869566 | | | | - | | |
NM_001985.3(ETFB):c.14G>T (p.Arg5Leu) | 2109 | ETFB | Uncertain significance | -1 | RCV002751596; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869567 | 51869567 | | | NC_000019.9:g.51869567C>A | - | | |
NM_001985.3(ETFB):c.9G>A (p.Glu3=) | 2109 | ETFB | Likely benign | 2123621091 | RCV002177761; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869572 | 51869572 | | | 51869572 | - | | |
NM_001985.3(ETFB):c.6G>T (p.Ala2=) | 2109 | ETFB | Likely benign | 2123621104 | RCV002177963; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869575 | 51869575 | | | 51869575 | - | | |
NM_001985.3(ETFB):c.2T>C (p.Met1Thr) | 2109 | ETFB | Uncertain significance | -1 | RCV002765576; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 19 | 51869579 | 51869579 | | | NC_000019.9:g.51869579A>G | - | | |
NM_004453.3(ETFDH):c.-315G>A | 2110 | ETFDH | Uncertain significance | 886059192 | RCV000382620; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593294 | 159593294 | | | NC_000004.11:g.159593294G>A | ClinGen:CA10618183 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.3(ETFDH):c.-239G>A | 2110 | ETFDH | Likely benign | 113981461 | RCV000290553|RCV001551455; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159593370 | 159593370 | | | NC_000004.11:g.159593370G>A | ClinGen:CA10620354 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.3(ETFDH):c.-174A>G | 2110 | ETFDH | Uncertain significance | 886059193 | RCV000347745; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593435 | 159593435 | | | NC_000004.11:g.159593435A>G | ClinGen:CA10620356 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.-97G>A | 2110 | ETFDH | Uncertain significance | 183609368 | RCV000398251; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593512 | 159593512 | | | NC_000004.11:g.159593512G>A | ClinGen:CA10617326 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.-77C>G | 2110 | ETFDH | Uncertain significance | 1296122115 | RCV001147170; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593532 | 159593532 | | | 4:g.159593532C>G | - | | |
NC_000004.11:g.(?_159593534)_(159629689_?)del | 2110 | ETFDH | Pathogenic | -1 | RCV003113485; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593534 | 159629689 | | | | - | | |
NM_004453.4(ETFDH):c.-61C>T | 2110 | ETFDH | Uncertain significance | 377679439 | RCV001147171; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593548 | 159593548 | | | 4:g.159593548C>T | - | | |
NC_000004.11:g.(?_159593609)_(159616815_?)dup | 2110 | ETFDH | Uncertain significance | -1 | RCV001969900; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593609 | 159616815 | | | -1 | - | | |
NC_000004.11:g.(?_159593609)_(159629679_?)dup | 2110 | ETFDH | Uncertain significance | -1 | RCV001879369; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593609 | 159629679 | | | -1 | - | | |
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) | 2110 | ETFDH | Pathogenic | 121964953 | RCV000012806|RCV002512993; | N | MONDO:MONDO:0700076,MedGen:C3278156|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593610 | 159593610 | | | 4:g.159593610T>C | ClinGen:CA121815,OMIM:231675.0001 | C3278156 Glutaric acidemia IIC; | |
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile) | 2110 | ETFDH | Pathogenic | -1 | RCV002651856; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593611 | 159593611 | | | NC_000004.11:g.159593611G>C | - | | |
NM_004453.4(ETFDH):c.6G>C (p.Leu2=) | 2110 | ETFDH | Likely benign | 2150300532 | RCV002144170; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593614 | 159593614 | | | 159593614 | - | | |
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 373776053 | RCV000284618|RCV001833469; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159593620 | 159593620 | | | NC_000004.11:g.159593620G>A | ClinGen:CA3122251 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.21G>A (p.Lys7=) | 2110 | ETFDH | Likely benign | 1232501551 | RCV002110211; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593629 | 159593629 | | | 159593629 | - | | |
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr) | 2110 | ETFDH | Uncertain significance | 1175266968 | RCV001279046; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593633 | 159593633 | | | 4:g.159593633T>A | - | | |
NM_004453.4(ETFDH):c.27C>T (p.Ser9=) | 2110 | ETFDH | Likely benign | 746903871 | RCV001501196; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593635 | 159593635 | | | 159593635 | - | | |
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 1172887273 | RCV000699613|RCV001577644; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159593642 | 159593642 | | | NC_000004.11:g.159593642G>C | - | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.34+1G>A | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476396; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593643 | 159593643 | | | | - | | |
NM_004453.4(ETFDH):c.34+5G>C | 2110 | ETFDH | Pathogenic/Likely pathogenic | 1373597092 | RCV001994257; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593647 | 159593647 | | | 159593647 | - | | |
NM_004453.4(ETFDH):c.34+5G>A | 2110 | ETFDH | Uncertain significance | -1 | RCV002627395; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593647 | 159593647 | | | NC_000004.11:g.159593647G>A | - | | |
NM_004453.4(ETFDH):c.34+7G>A | 2110 | ETFDH | Likely benign | 1436016069 | RCV000606140|RCV002528681; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593649 | 159593649 | | | 4:g.159593649G>A | ClinGen:CA555632561 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.34+17G>A | 2110 | ETFDH | Likely benign | -1 | RCV002720382; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159593659 | 159593659 | | | NC_000004.11:g.159593659G>A | - | | |
NC_000004.11:g.(?_159601599)_(159620302_?)dup | 2110 | ETFDH | Likely pathogenic | -1 | RCV000799422; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601599 | 159620302 | | | | - | | |
NM_004453.4(ETFDH):c.35-18T>A | 2110 | ETFDH | Likely benign | -1 | RCV002619453; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601601 | 159601601 | | | NC_000004.11:g.159601601T>A | - | | |
NM_004453.4(ETFDH):c.35-16C>T | 2110 | ETFDH | Likely benign | -1 | RCV003066875; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601603 | 159601603 | | | NC_000004.11:g.159601603C>T | - | | |
NM_004453.4(ETFDH):c.35-15G>A | 2110 | ETFDH | Likely benign | 529832630 | RCV002140540; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601604 | 159601604 | | | 159601604 | - | | |
NC_000004.11:g.(?_159601609)_(159620292_?)dup | 2110 | ETFDH | Likely pathogenic | -1 | RCV000801983; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601609 | 159620292 | | | | - | | |
NM_004453.4(ETFDH):c.35-8T>C | 2110 | ETFDH | Likely benign | 2150304318 | RCV002220644; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601611 | 159601611 | | | 159601611 | - | | |
NM_004453.4(ETFDH):c.35-7T>C | 2110 | ETFDH | Likely benign | 2150304320 | RCV001458781; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601612 | 159601612 | | | 159601612 | - | | |
NM_004453.4(ETFDH):c.35-6G>A | 2110 | ETFDH | Likely benign | 753999138 | RCV002078295; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601613 | 159601613 | | | 159601613 | - | | |
NM_004453.4(ETFDH):c.35-6G>T | 2110 | ETFDH | Likely benign | 753999138 | RCV002087039; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601613 | 159601613 | | | 159601613 | - | | |
NM_004453.4(ETFDH):c.35-4G>A | 2110 | ETFDH | Likely benign | -1 | RCV002710921; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601615 | 159601615 | | | NC_000004.11:g.159601615G>A | - | | |
NM_004453.4(ETFDH):c.35-3C>A | 2110 | ETFDH | Uncertain significance | 1554031296 | RCV000533347; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601616 | 159601616 | | | 4:g.159601616C>A | ClinGen:CA658657405 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.36del (p.Tyr13fs) | 2110 | ETFDH | Pathogenic | 2150304327 | RCV000012807|RCV003473080; | N | MONDO:MONDO:0700076,MedGen:C3278156|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601620 | 159601620 | | | 159601619 | OMIM:231675.0002 | | |
NM_004453.4(ETFDH):c.36A>G (p.Ala12=) | 2110 | ETFDH | Likely benign | 201254467 | RCV000975679; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601620 | 159601620 | | | 4:g.159601620A>G | - | | |
NM_004453.4(ETFDH):c.42G>C (p.Gln14His) | 2110 | ETFDH | Uncertain significance | -1 | RCV002618350; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601626 | 159601626 | | | NC_000004.11:g.159601626G>C | - | | |
NM_004453.4(ETFDH):c.43T>A (p.Cys15Ser) | 2110 | ETFDH | Uncertain significance | -1 | RCV002588806; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601627 | 159601627 | | | NC_000004.11:g.159601627T>A | - | | |
NM_004453.4(ETFDH):c.46T>A (p.Phe16Ile) | 2110 | ETFDH | Uncertain significance | -1 | RCV002775712; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601630 | 159601630 | | | NC_000004.11:g.159601630T>A | - | | |
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) | 2110 | ETFDH | Pathogenic | 796051964 | RCV000175781|RCV000185906; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159601634 | 159601635 | | | 4:g.159601634_159601635insT | ClinGen:CA312554 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.54C>T (p.Ala18=) | 2110 | ETFDH | Likely benign | -1 | RCV002843073; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601638 | 159601638 | | | | - | | |
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 2150304339 | RCV001881500; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601639 | 159601639 | | | 159601638 | - | | |
NM_004453.4(ETFDH):c.61A>T (p.Ile21Phe) | 2110 | ETFDH | Uncertain significance | 780991832 | RCV001279047; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601645 | 159601645 | | | 4:g.159601645A>T | - | | |
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 566605780 | RCV000341906; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601647 | 159601647 | | | NC_000004.11:g.159601647T>C | ClinGen:CA3122276 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.71dup (p.Asn24fs) | 2110 | ETFDH | Pathogenic | 2150304342 | RCV001965033; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601650 | 159601651 | | | 159601650 | - | | |
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 537038850 | RCV000153200|RCV000392257|RCV001831952; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159601663 | 159601663 | | | 4:g.159601663C>T | ClinGen:CA233953 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.84A>G (p.Leu28=) | 2110 | ETFDH | Likely benign | 1053865022 | RCV001434584; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601668 | 159601668 | | | 159601668 | - | | |
NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr) | 2110 | ETFDH | Uncertain significance | 1340326448 | RCV001218979|RCV001833899; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159601672 | 159601672 | | | 4:g.159601672G>A | - | | |
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 182144074 | RCV000185888|RCV000297924; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601675 | 159601675 | | | NC_000004.11:g.159601675A>G | ClinGen:CA312521 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) | 2110 | ETFDH | Benign | 11559290 | RCV000081080|RCV000355141|RCV000676844|RCV001826769; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900| | 4 | 159601676 | 159601676 | | | 4:g.159601676C>T | ClinGen:CA148156,UniProtKB:Q16134#VAR_062966 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476392; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601676 | 159601676 | | | | - | | |
NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter) | 2110 | ETFDH | Pathogenic | 1169197181 | RCV001919576; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601682 | 159601682 | | | 159601682 | - | | |
NM_004453.4(ETFDH):c.100T>A (p.Ser34Thr) | 2110 | ETFDH | Uncertain significance | -1 | RCV002943844; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601684 | 159601684 | | | NC_000004.11:g.159601684T>A | - | | |
NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476378; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601688 | 159601688 | | | | - | | |
NM_004453.4(ETFDH):c.108T>G (p.Thr36=) | 2110 | ETFDH | Likely benign | 140731939 | RCV002144948; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601692 | 159601692 | | | 159601692 | - | | |
NM_004453.4(ETFDH):c.114T>C (p.Thr38=) | 2110 | ETFDH | Likely benign | -1 | RCV002834305; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601698 | 159601698 | | | | - | | |
NM_004453.4(ETFDH):c.117G>A (p.Val39=) | 2110 | ETFDH | Likely benign | 2150304380 | RCV001465620; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601701 | 159601701 | | | 159601701 | - | | |
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) | 2110 | ETFDH | Pathogenic | 773668457 | RCV000699705|RCV001814220; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|Human Phenotype Ontology:HP:0001939,Human Phenotype Ontology:HP:0002146,MedGen:C4021768 | 4 | 159601705 | 159601705 | | | NC_000004.11:g.159601705C>T | - | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 150105001 | RCV002210294|RCV002261450; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159601706 | 159601706 | | | 159601706 | - | | |
NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr) | 2110 | ETFDH | Uncertain significance | -1 | RCV003086052; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601709 | 159601709 | | | NC_000004.11:g.159601709T>C | - | | |
NM_004453.4(ETFDH):c.129T>C (p.Thr43=) | 2110 | ETFDH | Likely benign | -1 | RCV003090078; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601713 | 159601713 | | | | - | | |
NM_004453.4(ETFDH):c.139A>G (p.Thr47Ala) | 2110 | ETFDH | Uncertain significance | 924962456 | RCV001934241; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601723 | 159601723 | | | 159601723 | - | | |
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 201823591 | RCV000392282; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601726 | 159601726 | | | NC_000004.11:g.159601726A>G | ClinGen:CA3122283 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.148C>T (p.Pro50Ser) | 2110 | ETFDH | Uncertain significance | 937646249 | RCV001279048; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601732 | 159601732 | | | 4:g.159601732C>T | - | | |
NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp) | 2110 | ETFDH | Likely pathogenic | 187248590 | RCV002028365; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601735 | 159601735 | | | 159601735 | - | | |
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 534388496 | RCV001319011|RCV001836301; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159601736 | 159601736 | | | 159601736 | - | | |
NM_004453.4(ETFDH):c.152G>T (p.Arg51Leu) | 2110 | ETFDH | Likely pathogenic | 534388496 | RCV001963736; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601736 | 159601736 | | | 159601736 | - | | |
NM_004453.4(ETFDH):c.152G>C (p.Arg51Pro) | 2110 | ETFDH | Likely pathogenic | 534388496 | RCV001980762; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601736 | 159601736 | | | 159601736 | - | | |
NM_004453.4(ETFDH):c.154G>A (p.Asp52Asn) | 2110 | ETFDH | Uncertain significance | 2150304401 | RCV001991735; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601738 | 159601738 | | | 159601738 | - | | |
NM_004453.4(ETFDH):c.163_164del (p.Lys55fs) | 2110 | ETFDH | Pathogenic | 2150304416 | RCV001972651; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601747 | 159601748 | | | 159601746 | - | | |
NM_004453.4(ETFDH):c.164A>G (p.Lys55Arg) | 2110 | ETFDH | Uncertain significance | -1 | RCV002805939; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601748 | 159601748 | | | NC_000004.11:g.159601748A>G | - | | |
NM_004453.4(ETFDH):c.169T>C (p.Trp57Arg) | 2110 | ETFDH | Likely pathogenic | 1773829495 | RCV002006312; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601753 | 159601753 | | | 159601753 | - | | |
NM_004453.4(ETFDH):c.170G>A (p.Trp57Ter) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476393; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601754 | 159601754 | | | | - | | |
NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter) | 2110 | ETFDH | Pathogenic | -1 | RCV002830247; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601756 | 159601756 | | | NC_000004.11:g.159601756G>T | - | | |
NM_004453.4(ETFDH):c.175+1del | 2110 | ETFDH | Pathogenic/Likely pathogenic | 2150304426 | RCV001727303|RCV002032696; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601759 | 159601759 | | | 159601758 | - | | |
NM_004453.4(ETFDH):c.175+2T>C | 2110 | ETFDH | Pathogenic | -1 | RCV003476389; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601761 | 159601761 | | | | - | | |
NM_004453.4(ETFDH):c.175+3A>G | 2110 | ETFDH | Likely benign | 781151266 | RCV000925945|RCV001719067; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159601762 | 159601762 | | | 4:g.159601762A>G | ClinGen:CA3122289 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.175+15G>C | 2110 | ETFDH | Likely benign | 2150304437 | RCV002208500; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601774 | 159601774 | | | 159601774 | - | | |
NM_004453.4(ETFDH):c.175+18T>A | 2110 | ETFDH | Likely benign | 778154689 | RCV002209932; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601777 | 159601777 | | | 159601777 | - | | |
NM_004453.4(ETFDH):c.175+19A>G | 2110 | ETFDH | Likely benign | -1 | RCV002599937; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159601778 | 159601778 | | | NC_000004.11:g.159601778A>G | - | | |
NM_004453.4(ETFDH):c.176-7C>T | 2110 | ETFDH | Likely benign | 776816664 | RCV001441782; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603340 | 159603340 | | | 159603340 | - | | |
NM_004453.4(ETFDH):c.176-5C>T | 2110 | ETFDH | Likely benign | 2150305143 | RCV001501232; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603342 | 159603342 | | | 159603342 | - | | |
NM_004453.4(ETFDH):c.176-2A>T | 2110 | ETFDH | Likely pathogenic | 1485038306 | RCV001219278|RCV001833902; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159603345 | 159603345 | | | 4:g.159603345A>T | - | | |
NM_004453.4(ETFDH):c.180G>A (p.Val60=) | 2110 | ETFDH | Likely benign | -1 | RCV002907680; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603351 | 159603351 | | | | - | | |
NM_004453.4(ETFDH):c.183C>T (p.Asn61=) | 2110 | ETFDH | Likely benign | 2150305147 | RCV001456461; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603354 | 159603354 | | | 159603354 | - | | |
NM_004453.4(ETFDH):c.191G>C (p.Arg64Thr) | 2110 | ETFDH | Uncertain significance | -1 | RCV003340802; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603362 | 159603362 | | | | - | | |
NM_004453.4(ETFDH):c.207del (p.Asp70fs) | 2110 | ETFDH | Pathogenic | 1773877563 | RCV001063451; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603378 | 159603378 | | | 4:g.159603378_159603378del | - | | |
NM_004453.4(ETFDH):c.214G>A (p.Val72Ile) | 2110 | ETFDH | Uncertain significance | -1 | RCV003107145; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603385 | 159603385 | | | NC_000004.11:g.159603385G>A | - | | |
NM_004453.4(ETFDH):c.219A>T (p.Ile73=) | 2110 | ETFDH | Likely benign | 1297866480 | RCV001392851; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603390 | 159603390 | | | 159603390 | - | | |
NM_004453.4(ETFDH):c.226G>A (p.Ala76Thr) | 2110 | ETFDH | Likely pathogenic | 1430630684 | RCV001836609; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603397 | 159603397 | | | 159603397 | - | | |
NM_004453.4(ETFDH):c.234T>A (p.Pro78=) | 2110 | ETFDH | Likely benign | -1 | RCV003059235; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603405 | 159603405 | | | | - | | |
NM_004453.4(ETFDH):c.243C>G (p.Leu81=) | 2110 | ETFDH | Likely benign | 1186680703 | RCV002220362; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603414 | 159603414 | | | 159603414 | - | | |
NM_004453.4(ETFDH):c.244T>C (p.Ser82Pro) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476380; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603415 | 159603415 | | | | - | | |
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | -1 | RCV003388535|RCV003475572|RCV003420682; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159603416 | 159603416 | | | | - | | |
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 121964954 | RCV000012808|RCV000224728|RCV000553294|RCV003231099; | N | MONDO:MONDO:0700076,MedGen:C3278156|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159603421 | 159603421 | | | 4:g.159603421G>A | ClinGen:CA121817,UniProtKB:Q16134#VAR_075442,OMIM:231675.0003 | C3278156 Glutaric acidemia IIC; | |
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 1580396712 | RCV002035269; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603422 | 159603422 | | | 159603422 | - | | |
NM_004453.4(ETFDH):c.256C>T (p.Arg86Cys) | 2110 | ETFDH | Uncertain significance | 1242099513 | RCV001346599|RCV001825932; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159603427 | 159603427 | | | 159603427 | - | | |
NM_004453.4(ETFDH):c.257G>A (p.Arg86His) | 2110 | ETFDH | Uncertain significance | 777655131 | RCV001698747; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603428 | 159603428 | | | 159603428 | - | | |
NM_004453.4(ETFDH):c.259C>T (p.Leu87=) | 2110 | ETFDH | Likely benign | 2150305192 | RCV001482585; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603430 | 159603430 | | | 159603430 | - | | |
NM_004453.4(ETFDH):c.265_266del (p.Gln89fs) | 2110 | ETFDH | Pathogenic | 1773880008 | RCV001248026; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603435 | 159603436 | | | 4:g.159603435_159603436del | - | | |
NM_004453.4(ETFDH):c.265C>T (p.Gln89Ter) | 2110 | ETFDH | Pathogenic | 2150305196 | RCV001928266; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603436 | 159603436 | | | 159603436 | - | | |
NM_004453.4(ETFDH):c.267G>A (p.Gln89=) | 2110 | ETFDH | Likely benign | 1773880095 | RCV001487672; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603438 | 159603438 | | | 159603438 | - | | |
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 749085653 | RCV001970056; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603440 | 159603440 | | | 159603440 | - | | |
NM_004453.4(ETFDH):c.269T>C (p.Leu90Ser) | 2110 | ETFDH | Uncertain significance | -1 | RCV002908245; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603440 | 159603440 | | | NC_000004.11:g.159603440T>C | - | | |
NM_004453.4(ETFDH):c.270G>A (p.Leu90=) | 2110 | ETFDH | Likely benign | 2150305205 | RCV002106863; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603441 | 159603441 | | | 159603441 | - | | |
NM_004453.4(ETFDH):c.271G>T (p.Ala91Ser) | 2110 | ETFDH | Uncertain significance | 1208091864 | RCV001937169; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603442 | 159603442 | | | 159603442 | - | | |
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp) | 2110 | ETFDH | Uncertain significance | 1773880547 | RCV001148072; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603443 | 159603443 | | | 4:g.159603443C>A | - | | |
NM_004453.4(ETFDH):c.282T>C (p.His94=) | 2110 | ETFDH | Likely benign | -1 | RCV003015209; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603453 | 159603453 | | | | - | | |
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly) | 2110 | ETFDH | Uncertain significance | 1580396806 | RCV000813094|RCV001830777; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159603455 | 159603455 | | | 4:g.159603455A>G | - | | |
NM_004453.4(ETFDH):c.285A>G (p.Glu95=) | 2110 | ETFDH | Likely benign | 201268972 | RCV001476468; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603456 | 159603456 | | | 159603456 | - | | |
NM_004453.4(ETFDH):c.288G>A (p.Lys96=) | 2110 | ETFDH | Likely benign | -1 | RCV002735908; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603459 | 159603459 | | | | - | | |
NM_004453.4(ETFDH):c.291C>T (p.Asp97=) | 2110 | ETFDH | Likely benign | 2150305224 | RCV001445595; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603462 | 159603462 | | | 159603462 | - | | |
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 796051962 | RCV000185904|RCV000698712|RCV003398924; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159603466 | 159603467 | | | NC_000004.11:g.159603467GT[5] | ClinGen:CA312552 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 371493232 | RCV000987486|RCV001832301|RCV002255101; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791||MONDO:MONDO:0700076,MedGen:C3278156 | 4 | 159603466 | 159603466 | | | 4:g.159603466C>T | - | | |
NM_004453.4(ETFDH):c.296G>A (p.Arg99His) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 376630579 | RCV001378006|RCV001762662|RCV003323872; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900|MedGen:CN169374 | 4 | 159603467 | 159603467 | | | 159603467 | - | | |
NM_004453.4(ETFDH):c.296G>C (p.Arg99Pro) | 2110 | ETFDH | Likely pathogenic | 376630579 | RCV002017019; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603467 | 159603467 | | | 159603467 | - | | |
NM_004453.4(ETFDH):c.299T>A (p.Val100Glu) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476382; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603470 | 159603470 | | | | - | | |
NM_004453.4(ETFDH):c.300G>A (p.Val100=) | 2110 | ETFDH | Likely benign | 1580396868 | RCV002208025; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603471 | 159603471 | | | 159603471 | - | | |
NM_004453.4(ETFDH):c.306A>C (p.Leu102=) | 2110 | ETFDH | Likely benign | 2150305233 | RCV001394764; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603477 | 159603477 | | | 159603477 | - | | |
NM_004453.4(ETFDH):c.306A>G (p.Leu102=) | 2110 | ETFDH | Likely benign | 2150305233 | RCV001398425; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603477 | 159603477 | | | 159603477 | - | | |
NM_004453.4(ETFDH):c.312G>A (p.Glu104=) | 2110 | ETFDH | Likely benign | -1 | RCV002856365; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603483 | 159603483 | | | | - | | |
NM_004453.4(ETFDH):c.320C>T (p.Ala107Val) | 2110 | ETFDH | Uncertain significance | -1 | RCV002638105; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603491 | 159603491 | | | NC_000004.11:g.159603491C>T | - | | |
NM_004453.4(ETFDH):c.330A>C (p.Gly110=) | 2110 | ETFDH | Likely benign | 2150305251 | RCV001445901; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603501 | 159603501 | | | 159603501 | - | | |
NM_004453.4(ETFDH):c.336_345del (p.His112fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476368; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603503 | 159603512 | | | | - | | |
NM_004453.4(ETFDH):c.334C>A (p.His112Asn) | 2110 | ETFDH | Uncertain significance | 1773883564 | RCV001203670|RCV001836136; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159603505 | 159603505 | | | 4:g.159603505C>A | - | | |
NM_004453.4(ETFDH):c.339T>G (p.Thr113=) | 2110 | ETFDH | Likely benign | -1 | RCV002815246; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603510 | 159603510 | | | | - | | |
NM_004453.4(ETFDH):c.342C>T (p.Leu114=) | 2110 | ETFDH | Likely benign | 770193214 | RCV001498918; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603513 | 159603513 | | | 159603513 | - | | |
NM_004453.4(ETFDH):c.343T>A (p.Ser115Thr) | 2110 | ETFDH | Uncertain significance | -1 | RCV003153148; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603514 | 159603514 | | | | - | | |
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 2150305273 | RCV001951472; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603515 | 159603515 | | | 159603515 | - | | |
NM_004453.4(ETFDH):c.348G>A (p.Gly116=) | 2110 | ETFDH | Likely benign | -1 | RCV002761673; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603519 | 159603519 | | | | - | | |
NM_004453.4(ETFDH):c.349G>C (p.Ala117Pro) | 2110 | ETFDH | Uncertain significance | 763106795 | RCV002005554; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603520 | 159603520 | | | 159603520 | - | | |
NM_004453.4(ETFDH):c.350C>A (p.Ala117Asp) | 2110 | ETFDH | Likely pathogenic | 1773884764 | RCV001995333; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603521 | 159603521 | | | 159603521 | - | | |
NM_004453.4(ETFDH):c.352T>G (p.Cys118Gly) | 2110 | ETFDH | Uncertain significance | 2150305281 | RCV001916390; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603523 | 159603523 | | | 159603523 | - | | |
NM_004453.4(ETFDH):c.353G>T (p.Cys118Phe) | 2110 | ETFDH | Uncertain significance | 1467428857 | RCV001247992; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603524 | 159603524 | | | 4:g.159603524G>T | - | | |
NM_004453.4(ETFDH):c.358G>C (p.Asp120His) | 2110 | ETFDH | Uncertain significance | -1 | RCV003082035|RCV003269443; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 4 | 159603529 | 159603529 | | | NC_000004.11:g.159603529G>C | - | | |
NM_004453.4(ETFDH):c.359A>G (p.Asp120Gly) | 2110 | ETFDH | Uncertain significance | 1773885189 | RCV001351196; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603530 | 159603530 | | | 159603530 | - | | |
NM_004453.4(ETFDH):c.363A>G (p.Pro121=) | 2110 | ETFDH | Likely benign | 1773885365 | RCV001470421; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603534 | 159603534 | | | 159603534 | - | | |
NM_004453.4(ETFDH):c.373A>G (p.Lys125Glu) | 2110 | ETFDH | Uncertain significance | -1 | RCV002592879; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603544 | 159603544 | | | NC_000004.11:g.159603544A>G | - | | |
NM_004453.4(ETFDH):c.376G>A (p.Glu126Lys) | 2110 | ETFDH | Uncertain significance | 1773885660 | RCV001351521|RCV001831170; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159603547 | 159603547 | | | 159603547 | - | | |
NM_004453.4(ETFDH):c.379C>T (p.Leu127Phe) | 2110 | ETFDH | Likely pathogenic | -1 | RCV002928699; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603550 | 159603550 | | | NC_000004.11:g.159603550C>T | - | | |
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) | 2110 | ETFDH | Pathogenic | 121964956 | RCV000012810|RCV000721976; | N | MONDO:MONDO:0700076,MedGen:C3278156|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603551 | 159603551 | | | 4:g.159603551T>A | ClinGen:CA121821,UniProtKB:Q16134#VAR_075444,OMIM:231675.0005 | C3278156 Glutaric acidemia IIC; | |
NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg) | 2110 | ETFDH | Pathogenic | 121964956 | RCV001951158; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603551 | 159603551 | | | 159603551 | - | | |
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) | 2110 | ETFDH | Benign/Likely benign | 149278633 | RCV000153201|RCV000634899|RCV001704110; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159603552 | 159603552 | | | 4:g.159603552C>T | ClinGen:CA180001 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.386del (p.Pro129fs) | 2110 | ETFDH | Pathogenic | 2150305297 | RCV001390882; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603555 | 159603555 | | | 159603554 | - | | |
NM_004453.4(ETFDH):c.385C>T (p.Pro129Ser) | 2110 | ETFDH | Uncertain significance | 985343342 | RCV001317846; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603556 | 159603556 | | | 159603556 | - | | |
NM_004453.4(ETFDH):c.387A>G (p.Pro129=) | 2110 | ETFDH | Likely benign | 1295185280 | RCV001452051; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603558 | 159603558 | | | 159603558 | - | | |
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val) | 2110 | ETFDH | Pathogenic | 199899494 | RCV000813251; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603560 | 159603560 | | | 4:g.159603560A>T | - | | |
NM_004453.4(ETFDH):c.393G>A (p.Trp131Ter) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476383; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603564 | 159603564 | | | | - | | |
NM_004453.4(ETFDH):c.398_402del (p.Glu133fs) | 2110 | ETFDH | Pathogenic | 2150305310 | RCV001783211; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603566 | 159603570 | | | 159603565 | - | | |
NM_004453.4(ETFDH):c.399G>A (p.Glu133=) | 2110 | ETFDH | Likely benign | 1319398122 | RCV000930121; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603570 | 159603570 | | | 4:g.159603570G>A | - | | |
NM_004453.4(ETFDH):c.405+1G>T | 2110 | ETFDH | Likely pathogenic | 2150305321 | RCV001971199; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603577 | 159603577 | | | 159603577 | - | | |
NM_004453.4(ETFDH):c.405+3A>T | 2110 | ETFDH | Pathogenic/Likely pathogenic | 796051965 | RCV000185907|RCV000809835; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603579 | 159603579 | | | NC_000004.11:g.159603579A>T | ClinGen:CA312555 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.405+3A>G | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 796051965 | RCV001329258|RCV001509240|RCV001844286; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202|MedGen:CN169374 | 4 | 159603579 | 159603579 | | | 159603579 | - | | |
NM_004453.4(ETFDH):c.405+11T>C | 2110 | ETFDH | Likely benign | -1 | RCV002631294; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603587 | 159603587 | | | NC_000004.11:g.159603587T>C | - | | |
NM_004453.4(ETFDH):c.405+13G>A | 2110 | ETFDH | Likely benign | 375086504 | RCV002119702; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603589 | 159603589 | | | 159603589 | - | | |
NM_004453.4(ETFDH):c.405+19dup | 2110 | ETFDH | Benign | -1 | RCV002631543; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159603589 | 159603590 | | | NC_000004.11:g.159603595dup | - | | |
NM_004453.4(ETFDH):c.406-5T>C | 2110 | ETFDH | Likely benign | -1 | RCV002948090; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605739 | 159605739 | | | NC_000004.11:g.159605739T>C | - | | |
NM_004453.4(ETFDH):c.406-2A>G | 2110 | ETFDH | Likely pathogenic | 2150306282 | RCV001379754; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605742 | 159605742 | | | 159605742 | - | | |
NM_004453.4(ETFDH):c.406-1G>A | 2110 | ETFDH | Likely pathogenic | 750189181 | RCV001377957; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605743 | 159605743 | | | 159605743 | - | | |
NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser) | 2110 | ETFDH | Pathogenic | -1 | RCV002651857; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605747 | 159605747 | | | NC_000004.11:g.159605747C>T | - | | |
NM_004453.4(ETFDH):c.410C>T (p.Pro137Leu) | 2110 | ETFDH | Uncertain significance | -1 | RCV002283773; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605748 | 159605748 | | | 159605748 | - | | |
NM_004453.4(ETFDH):c.411A>C (p.Pro137=) | 2110 | ETFDH | Likely benign | 1187372386 | RCV002219495; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605749 | 159605749 | | | 159605749 | - | | |
NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | -1 | RCV003061551|RCV003235766; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN169374 | 4 | 159605750 | 159605750 | | | NC_000004.11:g.159605750C>T | - | | |
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 779896449 | RCV000498882|RCV000763115|RCV001266160; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 4 | 159605751 | 159605751 | | | 4:g.159605751T>G | ClinGen:CA3122353 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.414T>G (p.Leu138=) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 751256504 | RCV001148073; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605752 | 159605752 | | | 4:g.159605752T>G | - | | |
NM_004453.4(ETFDH):c.420T>C (p.Thr140=) | 2110 | ETFDH | Likely benign | -1 | RCV003063917; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605758 | 159605758 | | | | - | | |
NM_004453.4(ETFDH):c.423T>A (p.Pro141=) | 2110 | ETFDH | Likely benign | -1 | RCV003019073; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605761 | 159605761 | | | | - | | |
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile) | 2110 | ETFDH | Uncertain significance | 146982178 | RCV001279049|RCV002542914; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 4 | 159605762 | 159605762 | | | 4:g.159605762G>A | - | | |
NM_004453.4(ETFDH):c.432_438del (p.Glu144fs) | 2110 | ETFDH | Pathogenic | 1231802914 | RCV001385871; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605765 | 159605771 | | | 159605764 | - | | |
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476385; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605768 | 159605768 | | | | - | | |
NM_004453.4(ETFDH):c.441T>C (p.Phe147=) | 2110 | ETFDH | Likely benign | 138149265 | RCV000604742|RCV000931480; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605779 | 159605779 | | | 4:g.159605779T>C | ClinGen:CA3122359 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.443_446dup (p.Ile149fs) | 2110 | ETFDH | Pathogenic | 1773954366 | RCV001233109; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605780 | 159605781 | | | 4:g.159605780_159605781insGAAT | - | | |
NM_004453.4(ETFDH):c.444A>C (p.Gly148=) | 2110 | ETFDH | Uncertain significance | 1773954457 | RCV001149618; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605782 | 159605782 | | | 4:g.159605782A>C | - | | |
NM_004453.4(ETFDH):c.454G>C (p.Glu152Gln) | 2110 | ETFDH | Uncertain significance | 2150306318 | RCV001915605; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605792 | 159605792 | | | 159605792 | - | | |
NM_004453.4(ETFDH):c.459A>G (p.Lys153=) | 2110 | ETFDH | Likely benign | 749702132 | RCV000982390; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605797 | 159605797 | | | 4:g.159605797A>G | - | | |
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 878853082 | RCV000224819|RCV002519760; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605800 | 159605800 | | | 4:g.159605800C>G | ClinGen:CA10581378 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 549150456 | RCV000489467|RCV000987487; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605801 | 159605801 | | | 4:g.159605801A>G | ClinGen:CA108850123 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter) | 2110 | ETFDH | Pathogenic | 549150456 | RCV002049210; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605801 | 159605801 | | | 159605801 | - | | |
NM_004453.4(ETFDH):c.468dup (p.Pro157fs) | 2110 | ETFDH | Pathogenic | -1 | RCV002851115; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605804 | 159605805 | | | NC_000004.11:g.159605806dup | - | | |
NM_004453.4(ETFDH):c.471T>C (p.Pro157=) | 2110 | ETFDH | Likely benign | -1 | RCV002605146; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605809 | 159605809 | | | | - | | |
NM_004453.4(ETFDH):c.472G>A (p.Val158Met) | 2110 | ETFDH | Uncertain significance | 774614480 | RCV001990063; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605810 | 159605810 | | | 159605810 | - | | |
NM_004453.4(ETFDH):c.474G>A (p.Val158=) | 2110 | ETFDH | Likely benign | 1350126940 | RCV000937004; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605812 | 159605812 | | | 4:g.159605812G>A | - | | |
NM_004453.4(ETFDH):c.477A>T (p.Pro159=) | 2110 | ETFDH | Likely benign | 2150306341 | RCV001434344; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605815 | 159605815 | | | 159605815 | - | | |
NM_004453.4(ETFDH):c.477A>G (p.Pro159=) | 2110 | ETFDH | Likely benign | 2150306341 | RCV002109019; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605815 | 159605815 | | | 159605815 | - | | |
NM_004453.4(ETFDH):c.485_487+14delinsT | 2110 | ETFDH | Pathogenic/Likely pathogenic | 796051963 | RCV000185905|RCV002517824|RCV003474943; | N | MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605823 | 159605839 | | | 4:g.159605824_159605839del | ClinGen:CA312553 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu) | 2110 | ETFDH | Uncertain significance | 1773956133 | RCV001069002; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605823 | 159605823 | | | 4:g.159605823C>T | - | | |
NM_004453.4(ETFDH):c.485_487+13del | 2110 | ETFDH | Likely pathogenic | 1773956317 | RCV001236719; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605823 | 159605838 | | | 4:g.159605823_159605838del | - | | |
NM_004453.4(ETFDH):c.487+1G>A | 2110 | ETFDH | Likely pathogenic | 1444488601 | RCV001213999; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605826 | 159605826 | | | 4:g.159605826G>A | - | | |
NM_004453.4(ETFDH):c.487+8A>T | 2110 | ETFDH | Likely benign | 1773956780 | RCV002218824; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605833 | 159605833 | | | 159605833 | - | | |
NM_004453.4(ETFDH):c.487+9T>C | 2110 | ETFDH | Likely benign | -1 | RCV002805952; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605834 | 159605834 | | | NC_000004.11:g.159605834T>C | - | | |
NM_004453.4(ETFDH):c.487+14A>T | 2110 | ETFDH | Likely benign | -1 | RCV002610600; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159605839 | 159605839 | | | NC_000004.11:g.159605839A>T | - | | |
NC_000004.11:g.(?_159606119)_(159616730_?)del | 2110 | ETFDH | Pathogenic | -1 | RCV003113486; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606119 | 159616730 | | | | - | | |
NM_004453.4(ETFDH):c.488-12A>C | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 180889150 | RCV001149619; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606241 | 159606241 | | | 4:g.159606241A>C | - | | |
NM_004453.4(ETFDH):c.488-12A>G | 2110 | ETFDH | Likely benign | 180889150 | RCV002097895; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606241 | 159606241 | | | 159606241 | - | | |
NM_004453.4(ETFDH):c.488-9T>C | 2110 | ETFDH | Uncertain significance | 1554031705 | RCV000543533|RCV001829571; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159606244 | 159606244 | | | 4:g.159606244T>C | ClinGen:CA658657406 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.488-1G>T | 2110 | ETFDH | Pathogenic/Likely pathogenic | 2150306551 | RCV001377173; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606252 | 159606252 | | | 159606252 | - | | |
NM_004453.4(ETFDH):c.492T>C (p.Leu164=) | 2110 | ETFDH | Likely benign | 1773968944 | RCV001486823; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606257 | 159606257 | | | 159606257 | - | | |
NM_004453.4(ETFDH):c.504T>C (p.Asn168=) | 2110 | ETFDH | Likely benign | 1773969287 | RCV001437399; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606269 | 159606269 | | | 159606269 | - | | |
NM_004453.4(ETFDH):c.507T>C (p.His169=) | 2110 | ETFDH | Likely benign | 772286040 | RCV001448424|RCV001832235; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159606272 | 159606272 | | | 4:g.159606272T>C | - | | |
NM_004453.4(ETFDH):c.510C>G (p.Gly170=) | 2110 | ETFDH | Likely benign | 747148665 | RCV002167730; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606275 | 159606275 | | | 159606275 | - | | |
NM_004453.4(ETFDH):c.511A>G (p.Asn171Asp) | 2110 | ETFDH | Uncertain significance | -1 | RCV002846655; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606276 | 159606276 | | | NC_000004.11:g.159606276A>G | - | | |
NM_004453.4(ETFDH):c.512A>G (p.Asn171Ser) | 2110 | ETFDH | Uncertain significance | 1773969792 | RCV001244050; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606277 | 159606277 | | | 4:g.159606277A>G | - | | |
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 762928354 | RCV000485144|RCV002525759; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606288 | 159606288 | | | 4:g.159606288C>T | ClinGen:CA3122387 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu) | 2110 | ETFDH | Pathogenic | 121964955 | RCV000012809|RCV002512994; | N | MONDO:MONDO:0700076,MedGen:C3278156|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606289 | 159606289 | | | 4:g.159606289G>T | ClinGen:CA121819,UniProtKB:Q16134#VAR_075447,OMIM:231675.0004 | C3278156 Glutaric acidemia IIC; | |
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 121964955 | RCV000024282|RCV001216553|RCV001826506; | N | MONDO:MONDO:0700076,MedGen:C3278156|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159606289 | 159606289 | | | 4:g.159606289G>A | ClinGen:CA129815,UniProtKB:Q16134#VAR_075446,OMIM:231675.0006 | C3278156 Glutaric acidemia IIC; | |
NM_004453.4(ETFDH):c.529G>A (p.Gly177Arg) | 2110 | ETFDH | Uncertain significance | -1 | RCV003106761; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606294 | 159606294 | | | NC_000004.11:g.159606294G>A | - | | |
NM_004453.4(ETFDH):c.540G>T (p.Val180=) | 2110 | ETFDH | Likely benign | 1580400148 | RCV001487184; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606305 | 159606305 | | | 4:g.159606305G>T | - | | |
NM_004453.4(ETFDH):c.540G>C (p.Val180=) | 2110 | ETFDH | Likely benign | -1 | RCV002633636; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606305 | 159606305 | | | | - | | |
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 767249944 | RCV000778725|RCV001830667; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159606310 | 159606310 | | | NC_000004.11:g.159606310G>A | - | | |
NM_004453.4(ETFDH):c.549G>A (p.Met183Ile) | 2110 | ETFDH | Uncertain significance | -1 | RCV003448784; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606314 | 159606314 | | | | - | | |
NM_004453.4(ETFDH):c.552C>T (p.Gly184=) | 2110 | ETFDH | Likely benign | 752262349 | RCV001502417; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606317 | 159606317 | | | 159606317 | - | | |
NM_004453.4(ETFDH):c.553G>A (p.Glu185Lys) | 2110 | ETFDH | Uncertain significance | -1 | RCV002638328|RCV003162083; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 4 | 159606318 | 159606318 | | | NC_000004.11:g.159606318G>A | - | | |
NM_004453.4(ETFDH):c.558A>G (p.Gln186=) | 2110 | ETFDH | Likely benign | 143688210 | RCV002116928; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606323 | 159606323 | | | 159606323 | - | | |
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 369912835 | RCV000479281|RCV001865424; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606325 | 159606325 | | | 4:g.159606325C>T | ClinGen:CA3122394 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.561A>G (p.Ala187=) | 2110 | ETFDH | Likely benign | 1318375497 | RCV001397188; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606326 | 159606326 | | | 4:g.159606326A>G | - | | |
NM_004453.4(ETFDH):c.567C>T (p.Ala189=) | 2110 | ETFDH | Likely benign | 1773972695 | RCV002090578; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606332 | 159606332 | | | 159606332 | - | | |
NM_004453.4(ETFDH):c.569T>C (p.Leu190Pro) | 2110 | ETFDH | Uncertain significance | 1255103931 | RCV001878326; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606334 | 159606334 | | | 159606334 | - | | |
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 147219158 | RCV000185892|RCV001079922|RCV001199401; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569 | 4 | 159606337 | 159606337 | | | 4:g.159606337G>A | ClinGen:CA312529 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.577del (p.Glu193fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476388; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606342 | 159606342 | | | | - | | |
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs) | 2110 | ETFDH | Likely pathogenic | 2150306625 | RCV001698748; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606345 | 159606346 | | | 159606345 | - | | |
NM_004453.4(ETFDH):c.582A>G (p.Val194=) | 2110 | ETFDH | Likely benign | 2150306629 | RCV001423047; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606347 | 159606347 | | | 159606347 | - | | |
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala) | 2110 | ETFDH | Uncertain significance | 201067972 | RCV001279050; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606351 | 159606351 | | | 4:g.159606351C>G | - | | |
NM_004453.4(ETFDH):c.586C>A (p.Pro196Thr) | 2110 | ETFDH | Uncertain significance | -1 | RCV002700802; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606351 | 159606351 | | | NC_000004.11:g.159606351C>A | - | | |
NM_004453.4(ETFDH):c.587_588delinsAA (p.Pro196Gln) | 2110 | ETFDH | Uncertain significance | 2150306642 | RCV001997661; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606352 | 159606353 | | | 159606352 | - | | |
NM_004453.4(ETFDH):c.606+1G>A | 2110 | ETFDH | Likely pathogenic | 1241072742 | RCV002034132; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606372 | 159606372 | | | 159606372 | - | | |
NM_004453.4(ETFDH):c.606+1G>T | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476381; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606372 | 159606372 | | | | - | | |
NM_004453.4(ETFDH):c.606+10GTTTT[2] | 2110 | ETFDH | Likely benign | 745580994 | RCV000841289|RCV001279051; | N | MedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606381 | 159606385 | | | 4:g.159606381_159606385del | - | | |
NM_004453.4(ETFDH):c.606+10G>A | 2110 | ETFDH | Likely benign | 2150306651 | RCV002072378; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606381 | 159606381 | | | 159606381 | - | | |
NM_004453.4(ETFDH):c.606+13T>C | 2110 | ETFDH | Likely benign | -1 | RCV002824520; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606384 | 159606384 | | | NC_000004.11:g.159606384T>C | - | | |
NM_004453.4(ETFDH):c.606+14T>C | 2110 | ETFDH | Likely benign | 139113830 | RCV002175010; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159606385 | 159606385 | | | 159606385 | - | | |
NM_004453.4(ETFDH):c.606+1791G>A | 2110 | ETFDH | Benign | 12644851 | RCV001517821; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159608162 | 159608162 | | | 159608162 | - | | |
NC_000004.11:g.(?_159611480)_(159620302_?)del | 2110 | ETFDH | Pathogenic | -1 | RCV001963200; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611480 | 159620302 | | | -1 | - | | |
NM_004453.4(ETFDH):c.607-12dup | 2110 | ETFDH | Likely benign | 527944729 | RCV001550025|RCV002072030; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611482 | 159611483 | | | 159611482 | - | | |
NM_004453.4(ETFDH):c.607-12del | 2110 | ETFDH | Benign | -1 | RCV003013479; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611483 | 159611483 | | | NC_000004.11:g.159611488del | - | | |
NM_004453.4(ETFDH):c.607-9C>A | 2110 | ETFDH | Likely benign | -1 | RCV003031998; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611491 | 159611491 | | | NC_000004.11:g.159611491C>A | - | | |
NM_004453.4(ETFDH):c.607-8_607-7del | 2110 | ETFDH | Likely benign | 2150308959 | RCV001393397; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611492 | 159611493 | | | 159611491 | - | | |
NM_004453.4(ETFDH):c.607-7T>C | 2110 | ETFDH | Likely benign | -1 | RCV002632499; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611493 | 159611493 | | | NC_000004.11:g.159611493T>C | - | | |
NM_004453.4(ETFDH):c.607-1G>T | 2110 | ETFDH | Likely pathogenic | 760251231 | RCV001970838; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611499 | 159611499 | | | 159611499 | - | | |
NM_004453.4(ETFDH):c.607-1G>A | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476370; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611499 | 159611499 | | | | - | | |
NM_004453.4(ETFDH):c.608T>C (p.Val203Ala) | 2110 | ETFDH | Uncertain significance | -1 | RCV003073032; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611501 | 159611501 | | | NC_000004.11:g.159611501T>C | - | | |
NM_004453.4(ETFDH):c.624T>C (p.Asp208=) | 2110 | ETFDH | Likely benign | -1 | RCV002806780; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611517 | 159611517 | | | | - | | |
NM_004453.4(ETFDH):c.627T>C (p.Gly209=) | 2110 | ETFDH | Likely benign | 148708761 | RCV000874951|RCV001703660; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159611520 | 159611520 | | | 4:g.159611520T>C | ClinGen:CA3122416 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.630T>C (p.Ser210=) | 2110 | ETFDH | Likely benign | 1456188483 | RCV002185508; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611523 | 159611523 | | | 159611523 | - | | |
NM_004453.4(ETFDH):c.636A>T (p.Lys212Asn) | 2110 | ETFDH | Uncertain significance | 758859840 | RCV001237581; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611529 | 159611529 | | | 4:g.159611529A>T | - | | |
NM_004453.4(ETFDH):c.642T>C (p.Ile214=) | 2110 | ETFDH | Likely benign | 201049444 | RCV000634901; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611535 | 159611535 | | | 4:g.159611535T>C | ClinGen:CA3122421 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.642T>G (p.Ile214Met) | 2110 | ETFDH | Uncertain significance | 201049444 | RCV001986385; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611535 | 159611535 | | | 159611535 | - | | |
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr) | 2110 | ETFDH | Likely pathogenic | -1 | RCV002651858; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611536 | 159611536 | | | NC_000004.11:g.159611536G>A | - | | |
NM_004453.4(ETFDH):c.651C>T (p.Asn217=) | 2110 | ETFDH | Likely benign | 562079045 | RCV000944228; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611544 | 159611544 | | | 4:g.159611544C>T | - | | |
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 748289922 | RCV002038367; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611545 | 159611545 | | | 159611545 | - | | |
NM_004453.4(ETFDH):c.654T>C (p.Asp218=) | 2110 | ETFDH | Likely benign | 1241684347 | RCV001503838; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611547 | 159611547 | | | 159611547 | - | | |
NM_004453.4(ETFDH):c.655G>A (p.Val219Ile) | 2110 | ETFDH | Uncertain significance | -1 | RCV002585181; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611548 | 159611548 | | | NC_000004.11:g.159611548G>A | - | | |
NM_004453.4(ETFDH):c.660G>C (p.Gly220=) | 2110 | ETFDH | Likely benign | 2150309010 | RCV001423664; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611553 | 159611553 | | | 159611553 | - | | |
NM_004453.4(ETFDH):c.662T>A (p.Ile221Lys) | 2110 | ETFDH | Uncertain significance | 1580406086 | RCV000797045; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611555 | 159611555 | | | 4:g.159611555T>A | - | | |
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 1482632936 | RCV001533540|RCV001882597; | N | MedGen:C4016438|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611558 | 159611558 | | | 159611558 | OMIM:231675.0009 | | |
NM_004453.4(ETFDH):c.672T>C (p.Asp224=) | 2110 | ETFDH | Likely benign | -1 | RCV002672191; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611565 | 159611565 | | | | - | | |
NM_004453.4(ETFDH):c.675T>C (p.Gly225=) | 2110 | ETFDH | Likely benign | -1 | RCV002851008; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611568 | 159611568 | | | | - | | |
NM_004453.4(ETFDH):c.678A>G (p.Ala226=) | 2110 | ETFDH | Likely benign | 372865586 | RCV000611975|RCV001407287; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611571 | 159611571 | | | 4:g.159611571A>G | ClinGen:CA3122426 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) | 2110 | ETFDH | Likely pathogenic | 141407224 | RCV000558221; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611572 | 159611572 | | | 4:g.159611572C>A | ClinGen:CA3122427 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.684+3_684+9dup | 2110 | ETFDH | Likely benign | 773592713 | RCV001421159; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611578 | 159611579 | | | 4:g.159611578_159611579insTAAACCT | - | | |
NM_004453.4(ETFDH):c.684+2T>G | 2110 | ETFDH | Pathogenic | 1580406119 | RCV000987488; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611579 | 159611579 | | | 4:g.159611579T>G | - | | |
NM_004453.4(ETFDH):c.684+13A>C | 2110 | ETFDH | Benign/Likely benign | 149407913 | RCV000124917|RCV001149620; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159611590 | 159611590 | | | 4:g.159611590A>C | ClinGen:CA290770 | CN169374 not specified; | |
NC_000004.11:g.(?_159616098)_(159618829_?)del | 2110 | ETFDH | Pathogenic | -1 | RCV003113487; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616098 | 159618829 | | | | - | | |
NM_004453.4(ETFDH):c.685-9G>C | 2110 | ETFDH | Likely benign | -1 | RCV002646730; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616640 | 159616640 | | | NC_000004.11:g.159616640G>C | - | | |
NM_004453.4(ETFDH):c.685-4del | 2110 | ETFDH | Benign | -1 | RCV003088671; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616642 | 159616642 | | | NC_000004.11:g.159616645del | - | | |
NM_004453.4(ETFDH):c.685-1G>A | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476373; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616648 | 159616648 | | | | - | | |
NM_004453.4(ETFDH):c.685_691delinsTCCAG (p.Ala229fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476375; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616649 | 159616655 | | | | - | | |
NM_004453.4(ETFDH):c.687A>G (p.Ala229=) | 2110 | ETFDH | Likely benign | -1 | RCV002846485; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616651 | 159616651 | | | | - | | |
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile) | 2110 | ETFDH | Uncertain significance | 999532162 | RCV000795887|RCV001830709; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159616653 | 159616653 | | | 4:g.159616653C>T | - | | |
NM_004453.4(ETFDH):c.697A>G (p.Arg233Gly) | 2110 | ETFDH | Uncertain significance | -1 | RCV002611312; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616661 | 159616661 | | | NC_000004.11:g.159616661A>G | - | | |
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg) | 2110 | ETFDH | Uncertain significance | 1032041993 | RCV000804982|RCV001825593; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159616664 | 159616664 | | | 4:g.159616664G>A | - | | |
NM_004453.4(ETFDH):c.709C>T (p.Leu237=) | 2110 | ETFDH | Likely benign | 2150310947 | RCV001473852; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616673 | 159616673 | | | 159616673 | - | | |
NM_004453.4(ETFDH):c.714T>C (p.His238=) | 2110 | ETFDH | Likely benign | -1 | RCV002633312; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616678 | 159616678 | | | | - | | |
NM_004453.4(ETFDH):c.723del (p.Thr242fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476395; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616687 | 159616687 | | | | - | | |
NM_004453.4(ETFDH):c.726A>G (p.Thr242=) | 2110 | ETFDH | Likely benign | 2150310952 | RCV002162771; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616690 | 159616690 | | | 159616690 | - | | |
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr) | 2110 | ETFDH | Uncertain significance | 1397900640 | RCV001762929|RCV002543945; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616692 | 159616692 | | | 159616692 | - | | |
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 1448673327 | RCV001149621|RCV002275296; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159616695 | 159616695 | | | 4:g.159616695T>C | - | | |
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 371260517 | RCV000185893|RCV001827992|RCV002517823; | N | MedGen:CN169374||MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616697 | 159616697 | | | 4:g.159616697G>A | ClinGen:CA312531 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.736G>A (p.Glu246Lys) | 2110 | ETFDH | Pathogenic | -1 | RCV003476398; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616700 | 159616700 | | | | - | | |
NM_004453.4(ETFDH):c.738A>G (p.Glu246=) | 2110 | ETFDH | Likely benign | 1212314821 | RCV002176692; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616702 | 159616702 | | | 159616702 | - | | |
NM_004453.4(ETFDH):c.750A>T (p.Gly250=) | 2110 | ETFDH | Likely benign | 2150310974 | RCV001394281; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616714 | 159616714 | | | 159616714 | - | | |
NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg) | 2110 | ETFDH | Uncertain significance | 1580411844 | RCV000823480; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616725 | 159616725 | | | 4:g.159616725A>G | - | | |
NM_004453.4(ETFDH):c.768A>G (p.Leu256=) | 2110 | ETFDH | Likely benign | 1481843055 | RCV002115028; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616732 | 159616732 | | | 159616732 | - | | |
NM_004453.4(ETFDH):c.769T>C (p.Tyr257His) | 2110 | ETFDH | Likely pathogenic | 1441657866 | RCV001223416; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616733 | 159616733 | | | 4:g.159616733T>C | - | | |
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) | 2110 | ETFDH | Pathogenic | 780015493 | RCV000824611; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616734 | 159616734 | | | 4:g.159616734A>G | - | | |
NM_004453.4(ETFDH):c.774G>A (p.Lys258=) | 2110 | ETFDH | Likely benign | 1014508077 | RCV001485686; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616738 | 159616738 | | | 159616738 | - | | |
NM_004453.4(ETFDH):c.777G>A (p.Lys259=) | 2110 | ETFDH | Likely benign | 1365101415 | RCV002140070; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616741 | 159616741 | | | 159616741 | - | | |
NM_004453.4(ETFDH):c.783_787del (p.Asp261fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476361; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616742 | 159616746 | | | | - | | |
NM_004453.4(ETFDH):c.783T>C (p.Asp261=) | 2110 | ETFDH | Likely benign | -1 | RCV002834318; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616747 | 159616747 | | | | - | | |
NM_004453.4(ETFDH):c.784T>G (p.Leu262Val) | 2110 | ETFDH | Uncertain significance | -1 | RCV002289474; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616748 | 159616748 | | | 159616748 | - | | |
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 1450977775 | RCV001329259; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616750 | 159616750 | | | 159616750 | - | | |
NM_004453.4(ETFDH):c.805C>G (p.Gln269Glu) | 2110 | ETFDH | Uncertain significance | 1580411897 | RCV000816683; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616769 | 159616769 | | | 4:g.159616769C>G | - | | |
NM_004453.4(ETFDH):c.806A>T (p.Gln269Leu) | 2110 | ETFDH | Likely pathogenic | 776320810 | RCV002000652; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616770 | 159616770 | | | 159616770 | - | | |
NM_004453.4(ETFDH):c.807A>C (p.Gln269His) | 2110 | ETFDH | Uncertain significance | 1265381182 | RCV000685445|RCV001829892; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159616771 | 159616771 | | | NC_000004.11:g.159616771A>C | - | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.808A>G (p.Thr270Ala) | 2110 | ETFDH | Uncertain significance | 398124154 | RCV000081079|RCV002515777; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616772 | 159616772 | | | NC_000004.11:g.159616772A>G | ClinGen:CA222711 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.813C>T (p.Tyr271=) | 2110 | ETFDH | Likely benign | -1 | RCV003089362; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616777 | 159616777 | | | | - | | |
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 763541530 | RCV001051962|RCV001545243; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159616778 | 159616778 | | | 4:g.159616778G>A | - | | |
NM_004453.4(ETFDH):c.818T>C (p.Ile273Thr) | 2110 | ETFDH | Uncertain significance | -1 | RCV003052510; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616782 | 159616782 | | | NC_000004.11:g.159616782T>C | - | | |
NM_004453.4(ETFDH):c.831+1G>A | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476394; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616796 | 159616796 | | | | - | | |
NM_004453.4(ETFDH):c.831+2T>G | 2110 | ETFDH | Likely pathogenic | -1 | RCV002750611; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616797 | 159616797 | | | NC_000004.11:g.159616797T>G | - | | |
NM_004453.4(ETFDH):c.831+3A>C | 2110 | ETFDH | Likely pathogenic | 1426349276 | RCV001377216; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616798 | 159616798 | | | 159616798 | - | | |
NM_004453.4(ETFDH):c.831+4T>C | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 752971257 | RCV000698477|RCV001585642|RCV002534358; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 4 | 159616799 | 159616799 | | | NC_000004.11:g.159616799T>C | - | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.831+6C>T | 2110 | ETFDH | Uncertain significance | -1 | RCV002907981; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616801 | 159616801 | | | NC_000004.11:g.159616801C>T | - | | |
NM_004453.4(ETFDH):c.831+18T>C | 2110 | ETFDH | Likely benign | -1 | RCV002885135; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159616813 | 159616813 | | | NC_000004.11:g.159616813T>C | - | | |
NM_004453.4(ETFDH):c.832-19T>G | 2110 | ETFDH | Likely benign | 775057755 | RCV002093840; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618692 | 159618692 | | | 159618692 | - | | |
NM_004453.4(ETFDH):c.832-3dup | 2110 | ETFDH | Benign | 376153836 | RCV002129825; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618695 | 159618696 | | | 159618695 | - | | |
NM_004453.4(ETFDH):c.832-10T>G | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 200911913 | RCV000124918|RCV000676845|RCV001079915; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618701 | 159618701 | | | 4:g.159618701T>G | ClinGen:CA290771 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.832-8T>A | 2110 | ETFDH | Likely benign | 912481593 | RCV001396396; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618703 | 159618703 | | | 159618703 | - | | |
NM_004453.4(ETFDH):c.832-5T>C | 2110 | ETFDH | Uncertain significance | 768022965 | RCV001890587; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618706 | 159618706 | | | 159618706 | - | | |
NM_004453.4(ETFDH):c.834A>G (p.Leu278=) | 2110 | ETFDH | Likely benign | 761077518 | RCV001453170; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618713 | 159618713 | | | 159618713 | - | | |
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 754082348 | RCV001243666; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618714 | 159618714 | | | 4:g.159618714T>C | - | | |
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val) | 2110 | ETFDH | Uncertain significance | 761854400 | RCV000634898|RCV002528869; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 4 | 159618720 | 159618720 | | | NC_000004.11:g.159618720A>G | ClinGen:CA3122480 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.843T>A (p.Ile281=) | 2110 | ETFDH | Uncertain significance | 765239908 | RCV001149622; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618722 | 159618722 | | | 4:g.159618722T>A | - | | |
NM_004453.4(ETFDH):c.846T>C (p.Asp282=) | 2110 | ETFDH | Likely benign | 371927583 | RCV000605057|RCV002063960; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618725 | 159618725 | | | 4:g.159618725T>C | ClinGen:CA3122482 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter) | 2110 | ETFDH | Pathogenic | 1235904433 | RCV001068689; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618737 | 159618737 | | | 4:g.159618737G>A | - | | |
NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg) | 2110 | ETFDH | Uncertain significance | 1774343332 | RCV001064802; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618744 | 159618744 | | | 4:g.159618744G>A | - | | |
NM_004453.4(ETFDH):c.867G>A (p.Gly289=) | 2110 | ETFDH | Likely benign | 1774343547 | RCV002215573; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618746 | 159618746 | | | 159618746 | - | | |
NM_004453.4(ETFDH):c.870A>G (p.Arg290=) | 2110 | ETFDH | Likely benign | 752487495 | RCV002159517; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618749 | 159618749 | | | 159618749 | - | | |
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly) | 2110 | ETFDH | Pathogenic | 755907131 | RCV001941612; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618751 | 159618751 | | | 159618751 | - | | |
NM_004453.4(ETFDH):c.879C>T (p.His293=) | 2110 | ETFDH | Likely benign | 1774344228 | RCV002185190; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618758 | 159618758 | | | 159618758 | - | | |
NM_004453.4(ETFDH):c.881C>G (p.Thr294Ser) | 2110 | ETFDH | Uncertain significance | 748958949 | RCV001296010|RCV001830131; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159618760 | 159618760 | | | 159618760 | - | | |
NM_004453.4(ETFDH):c.882T>C (p.Thr294=) | 2110 | ETFDH | Likely benign | 770579929 | RCV000941613; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618761 | 159618761 | | | 4:g.159618761T>C | - | | |
NM_004453.4(ETFDH):c.887G>A (p.Gly296Asp) | 2110 | ETFDH | Uncertain significance | -1 | RCV002304941; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618766 | 159618766 | | | 159618766 | - | | |
NM_004453.4(ETFDH):c.888T>C (p.Gly296=) | 2110 | ETFDH | Likely benign | 1174948040 | RCV000600458|RCV001457898; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618767 | 159618767 | | | 4:g.159618767T>C | ClinGen:CA442138331 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser) | 2110 | ETFDH | Pathogenic | 1774344831 | RCV001035118; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618771 | 159618771 | | | 4:g.159618771C>T | - | | |
NM_004453.4(ETFDH):c.897G>A (p.Leu299=) | 2110 | ETFDH | Likely benign | -1 | RCV002786581; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618776 | 159618776 | | | | - | | |
NM_004453.4(ETFDH):c.906T>C (p.His302=) | 2110 | ETFDH | Likely benign | 2150311696 | RCV002128998; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618785 | 159618785 | | | 159618785 | - | | |
NM_004453.4(ETFDH):c.912T>C (p.Tyr304=) | 2110 | ETFDH | Likely benign | 2150311706 | RCV002199547; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618791 | 159618791 | | | 159618791 | - | | |
NM_004453.4(ETFDH):c.920C>T (p.Ser307Phe) | 2110 | ETFDH | Likely pathogenic | 769047475 | RCV001698889; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618799 | 159618799 | | | 159618799 | - | | |
NM_004453.4(ETFDH):c.920C>G (p.Ser307Cys) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476364; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618799 | 159618799 | | | | - | | |
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val) | 2110 | ETFDH | Uncertain significance | 1218671512 | RCV000816185; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618801 | 159618801 | | | 4:g.159618801T>G | - | | |
NM_004453.4(ETFDH):c.924C>T (p.Phe308=) | 2110 | ETFDH | Likely benign | 1261212490 | RCV002090022; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618803 | 159618803 | | | 159618803 | - | | |
NM_004453.4(ETFDH):c.927C>G (p.Leu309=) | 2110 | ETFDH | Likely benign | -1 | RCV002700298; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618806 | 159618806 | | | | - | | |
NM_004453.4(ETFDH):c.933T>C (p.His311=) | 2110 | ETFDH | Likely benign | 2150311727 | RCV002112529; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618812 | 159618812 | | | 159618812 | - | | |
NM_004453.4(ETFDH):c.934T>G (p.Leu312Val) | 2110 | ETFDH | Uncertain significance | -1 | RCV002622461; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618813 | 159618813 | | | NC_000004.11:g.159618813T>G | - | | |
NM_004453.4(ETFDH):c.937A>G (p.Asn313Asp) | 2110 | ETFDH | Uncertain significance | 762031780 | RCV001967974; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618816 | 159618816 | | | 159618816 | - | | |
NM_004453.4(ETFDH):c.939T>C (p.Asn313=) | 2110 | ETFDH | Likely benign | 2150311730 | RCV001416933; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618818 | 159618818 | | | 159618818 | - | | |
NM_004453.4(ETFDH):c.940G>C (p.Glu314Gln) | 2110 | ETFDH | Uncertain significance | 201579588 | RCV001889729; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618819 | 159618819 | | | 159618819 | - | | |
NM_004453.4(ETFDH):c.940G>A (p.Glu314Lys) | 2110 | ETFDH | Uncertain significance | -1 | RCV003112264; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618819 | 159618819 | | | NC_000004.11:g.159618819G>A | - | | |
NM_004453.4(ETFDH):c.942A>G (p.Glu314=) | 2110 | ETFDH | Likely benign | -1 | RCV003008075; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618821 | 159618821 | | | | - | | |
NM_004453.4(ETFDH):c.948A>G (p.Glu316=) | 2110 | ETFDH | Uncertain significance | 1774347347 | RCV001347386; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618827 | 159618827 | | | 159618827 | - | | |
NM_004453.4(ETFDH):c.950C>T (p.Pro317Leu) | 2110 | ETFDH | Uncertain significance | 1394204740 | RCV001297627; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618829 | 159618829 | | | 159618829 | - | | |
NM_004453.4(ETFDH):c.952C>T (p.Leu318=) | 2110 | ETFDH | Likely benign | 763002171 | RCV001451476; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618831 | 159618831 | | | 159618831 | - | | |
NM_004453.4(ETFDH):c.952C>A (p.Leu318Ile) | 2110 | ETFDH | Uncertain significance | 763002171 | RCV001943841; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618831 | 159618831 | | | 159618831 | - | | |
NM_004453.4(ETFDH):c.954A>G (p.Leu318=) | 2110 | ETFDH | Likely benign | -1 | RCV002595810; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618833 | 159618833 | | | | - | | |
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro) | 2110 | ETFDH | Uncertain significance | 1464356117 | RCV000691018; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618841 | 159618841 | | | NC_000004.11:g.159618841T>C | - | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.966T>C (p.Gly322=) | 2110 | ETFDH | Likely benign | 2150311745 | RCV002187194; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618845 | 159618845 | | | 159618845 | - | | |
NM_004453.4(ETFDH):c.969T>G (p.Leu323=) | 2110 | ETFDH | Likely benign | 753462513 | RCV001502165; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618848 | 159618848 | | | 159618848 | - | | |
NM_004453.4(ETFDH):c.970G>C (p.Val324Leu) | 2110 | ETFDH | Uncertain significance | 1774348680 | RCV001219118; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618849 | 159618849 | | | 4:g.159618849G>C | - | | |
NM_004453.4(ETFDH):c.972+1del | 2110 | ETFDH | Pathogenic/Likely pathogenic | -1 | RCV002913618; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618851 | 159618851 | | | NC_000004.11:g.159618852del | - | | |
NM_004453.4(ETFDH):c.972+7T>A | 2110 | ETFDH | Likely benign | 1580414056 | RCV000981123; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618858 | 159618858 | | | 4:g.159618858T>A | - | | |
NM_004453.4(ETFDH):c.972+8A>G | 2110 | ETFDH | Likely benign | 778686663 | RCV002134538; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618859 | 159618859 | | | 159618859 | - | | |
NM_004453.4(ETFDH):c.972+10A>G | 2110 | ETFDH | Likely benign | 745409764 | RCV002216918; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618861 | 159618861 | | | 159618861 | - | | |
NM_004453.4(ETFDH):c.972+13C>T | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 199589412 | RCV001149623; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618864 | 159618864 | | | 4:g.159618864C>T | - | | |
NM_004453.4(ETFDH):c.972+16A>T | 2110 | ETFDH | Likely benign | -1 | RCV002596162; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159618867 | 159618867 | | | NC_000004.11:g.159618867A>T | - | | |
NM_004453.4(ETFDH):c.973-104A>C | 2110 | ETFDH | Benign | 7679753 | RCV001527526|RCV001712955; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159620035 | 159620035 | | | 159620035 | - | | |
NM_004453.4(ETFDH):c.973-13G>A | 2110 | ETFDH | Likely benign | -1 | RCV003076088; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620126 | 159620126 | | | NC_000004.11:g.159620126G>A | - | | |
NM_004453.4(ETFDH):c.973-2A>G | 2110 | ETFDH | Likely pathogenic | 2150312193 | RCV001376776; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620137 | 159620137 | | | 159620137 | - | | |
NM_004453.4(ETFDH):c.973-1G>A | 2110 | ETFDH | Likely pathogenic | 1580415323 | RCV000811062; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620138 | 159620138 | | | 4:g.159620138G>A | - | | |
NM_004453.4(ETFDH):c.975T>C (p.Val325=) | 2110 | ETFDH | Likely benign | 2150312198 | RCV002207660; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620141 | 159620141 | | | 159620141 | - | | |
NM_004453.4(ETFDH):c.981A>G (p.Leu327=) | 2110 | ETFDH | Likely benign | 2150312206 | RCV001395207; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620147 | 159620147 | | | 159620147 | - | | |
NM_004453.4(ETFDH):c.983A>G (p.Asp328Gly) | 2110 | ETFDH | Uncertain significance | -1 | RCV002625093; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620149 | 159620149 | | | NC_000004.11:g.159620149A>G | - | | |
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 2150312216 | RCV001935533|RCV003323953; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN169374 | 4 | 159620158 | 159620158 | | | 159620158 | - | | |
NM_004453.4(ETFDH):c.995C>T (p.Pro332Leu) | 2110 | ETFDH | Uncertain significance | -1 | RCV002730335; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620161 | 159620161 | | | NC_000004.11:g.159620161C>T | - | | |
NM_004453.4(ETFDH):c.996A>G (p.Pro332=) | 2110 | ETFDH | Likely benign | 566071326 | RCV001490549; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620162 | 159620162 | | | 4:g.159620162A>G | - | | |
NM_004453.4(ETFDH):c.998A>G (p.Tyr333Cys) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476372; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620164 | 159620164 | | | | - | | |
NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter) | 2110 | ETFDH | Pathogenic | 2150312228 | RCV001901387; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620165 | 159620165 | | | 159620165 | - | | |
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 377686388 | RCV000180601|RCV000723385|RCV001826924; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900| | 4 | 159620167 | 159620167 | | | 4:g.159620167T>C | ClinGen:CA346892,UniProtKB:Q16134#VAR_075451 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1001T>G (p.Leu334Arg) | 2110 | ETFDH | Likely pathogenic | 377686388 | RCV002012925; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620167 | 159620167 | | | 159620167 | - | | |
NM_004453.4(ETFDH):c.1002G>C (p.Leu334=) | 2110 | ETFDH | Likely benign | 1476673975 | RCV002090470; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620168 | 159620168 | | | 159620168 | - | | |
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr) | 2110 | ETFDH | Uncertain significance | 770140708 | RCV001145311; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620170 | 159620170 | | | 4:g.159620170G>C | - | | |
NM_004453.4(ETFDH):c.1005T>G (p.Ser335Arg) | 2110 | ETFDH | Uncertain significance | 1452265763 | RCV001233837|RCV001836189; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159620171 | 159620171 | | | 4:g.159620171T>G | - | | |
NM_004453.4(ETFDH):c.1011del (p.Phe337fs) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 757063739 | RCV001928034; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620175 | 159620175 | | | 159620174 | - | | |
NM_004453.4(ETFDH):c.1019del (p.Phe340fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476377; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620184 | 159620184 | | | | - | | |
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 1131691336 | RCV000493889|RCV001856959|RCV002282174; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN169374 | 4 | 159620185 | 159620185 | | | 4:g.159620185T>A | ClinGen:CA358562056 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.1026G>A (p.Arg342=) | 2110 | ETFDH | Likely benign | -1 | RCV002947317; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620192 | 159620192 | | | | - | | |
NM_004453.4(ETFDH):c.1031_1034del (p.Lys344fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003460029; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620196 | 159620199 | | | | - | | |
NM_004453.4(ETFDH):c.1036C>T (p.His346Tyr) | 2110 | ETFDH | Uncertain significance | 749456492 | RCV001887507; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620202 | 159620202 | | | 159620202 | - | | |
NM_004453.4(ETFDH):c.1037A>G (p.His346Arg) | 2110 | ETFDH | Uncertain significance | -1 | RCV002651859; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620203 | 159620203 | | | NC_000004.11:g.159620203A>G | - | | |
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp) | 2110 | ETFDH | Likely benign | 375172942 | RCV000524621; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620214 | 159620214 | | | 4:g.159620214C>T | ClinGen:CA3122540 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 139306043 | RCV000879649|RCV001731970; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159620215 | 159620215 | | | 4:g.159620215G>A | - | | |
NM_004453.4(ETFDH):c.1050G>A (p.Arg350=) | 2110 | ETFDH | Likely benign | -1 | RCV002604150; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620216 | 159620216 | | | | - | | |
NM_004453.4(ETFDH):c.1054A>G (p.Thr352Ala) | 2110 | ETFDH | Uncertain significance | -1 | RCV002623852; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620220 | 159620220 | | | NC_000004.11:g.159620220A>G | - | | |
NM_004453.4(ETFDH):c.1055C>A (p.Thr352Asn) | 2110 | ETFDH | Uncertain significance | 2150312268 | RCV002025480; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620221 | 159620221 | | | 159620221 | - | | |
NM_004453.4(ETFDH):c.1056C>T (p.Thr352=) | 2110 | ETFDH | Likely benign | 2150312272 | RCV002191128; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620222 | 159620222 | | | 159620222 | - | | |
NM_004453.4(ETFDH):c.1061A>C (p.Glu354Ala) | 2110 | ETFDH | Uncertain significance | 2150312279 | RCV001993763; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620227 | 159620227 | | | 159620227 | - | | |
NM_004453.4(ETFDH):c.1062del (p.Gly355fs) | 2110 | ETFDH | Pathogenic | 2150312280 | RCV001951856; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620227 | 159620227 | | | 159620226 | - | | |
NM_004453.4(ETFDH):c.1066G>A (p.Gly356Arg) | 2110 | ETFDH | Likely pathogenic | 2150312288 | RCV001995782; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620232 | 159620232 | | | 159620232 | - | | |
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 796051959 | RCV000185897|RCV002478652; | N | MedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620239 | 159620239 | | | 4:g.159620239G>A | ClinGen:CA312539 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser) | 2110 | ETFDH | Pathogenic/Likely pathogenic | -1 | RCV002283899; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620240 | 159620240 | | | 159620240 | - | | |
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 776428695 | RCV000185898|RCV002282017|RCV002516968; | N | MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620245 | 159620245 | | | NC_000004.11:g.159620245C>T | ClinGen:CA312541 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=) | 2110 | ETFDH | Benign/Likely benign | 150020458 | RCV000124919|RCV000903097; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620246 | 159620246 | | | 4:g.159620246A>G | ClinGen:CA290772 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 2150312299 | RCV001989535; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620248 | 159620248 | | | 159620248 | - | | |
NM_004453.4(ETFDH):c.1083C>T (p.Tyr361=) | 2110 | ETFDH | Likely benign | 765063539 | RCV001465861|RCV001832607; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159620249 | 159620249 | | | 159620249 | - | | |
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) | 2110 | ETFDH | Likely pathogenic | 369711837 | RCV000539322|RCV001829570|RCV003419931; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|| | 4 | 159620250 | 159620250 | | | 4:g.159620250G>A | ClinGen:CA3122544 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1089C>T (p.Ala363=) | 2110 | ETFDH | Likely benign | 1774391973 | RCV002157413; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620255 | 159620255 | | | 159620255 | - | | |
NM_004453.4(ETFDH):c.1093G>T (p.Ala365Ser) | 2110 | ETFDH | Uncertain significance | -1 | RCV002646242; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620259 | 159620259 | | | NC_000004.11:g.159620259G>T | - | | |
NM_004453.4(ETFDH):c.1095T>C (p.Ala365=) | 2110 | ETFDH | Likely benign | 1774392244 | RCV001447770; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620261 | 159620261 | | | 159620261 | - | | |
NM_004453.4(ETFDH):c.1098C>T (p.Leu366=) | 2110 | ETFDH | Likely benign | 1245353864 | RCV002219554; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620264 | 159620264 | | | 159620264 | - | | |
NM_004453.4(ETFDH):c.1099A>G (p.Asn367Asp) | 2110 | ETFDH | Likely pathogenic | 2150312312 | RCV002000660; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620265 | 159620265 | | | 159620265 | - | | |
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 754418186 | RCV000987489|RCV002222651; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN169374 | 4 | 159620272 | 159620272 | | | 4:g.159620272G>C | - | | |
NM_004453.4(ETFDH):c.1107T>C (p.Gly369=) | 2110 | ETFDH | Likely benign | 781782240 | RCV001415950; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620273 | 159620273 | | | 159620273 | - | | |
NM_004453.4(ETFDH):c.1108G>A (p.Gly370Ser) | 2110 | ETFDH | Uncertain significance | 1774393063 | RCV001232134; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620274 | 159620274 | | | 4:g.159620274G>A | - | | |
NM_004453.4(ETFDH):c.1116G>C (p.Gln372His) | 2110 | ETFDH | Uncertain significance | -1 | RCV002903254; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620282 | 159620282 | | | NC_000004.11:g.159620282G>C | - | | |
NM_004453.4(ETFDH):c.1116+2T>C | 2110 | ETFDH | Uncertain significance | 1561247874 | RCV000778726; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620284 | 159620284 | | | NC_000004.11:g.159620284T>C | - | | |
NM_004453.4(ETFDH):c.1116+6T>C | 2110 | ETFDH | Uncertain significance | 1561247878 | RCV001279052; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620288 | 159620288 | | | 4:g.159620288T>C | - | | |
NM_004453.4(ETFDH):c.1116+7C>T | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 748640706 | RCV000301497; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620289 | 159620289 | | | NC_000004.11:g.159620289C>T | ClinGen:CA3122550 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1116+10C>T | 2110 | ETFDH | Likely benign | 1417738324 | RCV001457570; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620292 | 159620292 | | | 159620292 | - | | |
NM_004453.4(ETFDH):c.1116+13A>G | 2110 | ETFDH | Likely benign | -1 | RCV003081262; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159620295 | 159620295 | | | NC_000004.11:g.159620295A>G | - | | |
NM_004453.4(ETFDH):c.1117-11T>C | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 917132143 | RCV001145312; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624564 | 159624564 | | | 4:g.159624564T>C | - | | |
NM_004453.4(ETFDH):c.1117-4T>C | 2110 | ETFDH | Likely benign | 940742984 | RCV001486364; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624571 | 159624571 | | | 159624571 | - | | |
NM_004453.4(ETFDH):c.1117-2A>G | 2110 | ETFDH | Pathogenic/Likely pathogenic | -1 | RCV003079056; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624573 | 159624573 | | | NC_000004.11:g.159624573A>G | - | | |
NM_004453.4(ETFDH):c.1117-1G>A | 2110 | ETFDH | Likely pathogenic | 1774518252 | RCV001040654; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624574 | 159624574 | | | 4:g.159624574G>A | - | | |
NM_004453.4(ETFDH):c.1117T>C (p.Ser373Pro) | 2110 | ETFDH | Uncertain significance | 1774518301 | RCV001067774; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624575 | 159624575 | | | 4:g.159624575T>C | - | | |
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe) | 2110 | ETFDH | Uncertain significance | 1774518388 | RCV001045770|RCV001273691; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159624576 | 159624576 | | | 4:g.159624576C>T | - | | |
NM_004453.4(ETFDH):c.1120A>G (p.Ile374Val) | 2110 | ETFDH | Uncertain significance | -1 | RCV002632487; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624578 | 159624578 | | | NC_000004.11:g.159624578A>G | - | | |
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 387907170 | RCV000024305|RCV000210651|RCV000578325|RCV001814011|RCV001831605; | N | MedGen:C4016438|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900| | 4 | 159624588 | 159624588 | | | 4:g.159624588T>C | ClinGen:CA129834,UniProtKB:Q16134#VAR_075453,OMIM:231675.0007 | C4016438 Glutaric acidemia iic, late-onset; | |
NM_004453.4(ETFDH):c.1134del (p.Pro380fs) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 1369800014 | RCV001388893; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624591 | 159624591 | | | 159624590 | - | | |
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 2126309189 | RCV001383328; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624591 | 159624595 | | | 159624590 | - | | |
NM_004453.4(ETFDH):c.1140T>G (p.Pro380=) | 2110 | ETFDH | Likely benign | 2126309197 | RCV001435755; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624598 | 159624598 | | | 159624598 | - | | |
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) | 2110 | ETFDH | Pathogenic | 1466787789 | RCV000625637; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624599 | 159624599 | | | 4:g.159624599G>C | ClinGen:CA358562756 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1142G>A (p.Gly381Asp) | 2110 | ETFDH | Likely pathogenic | -1 | RCV002603372; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624600 | 159624600 | | | NC_000004.11:g.159624600G>A | - | | |
NM_004453.4(ETFDH):c.1144G>A (p.Gly382Ser) | 2110 | ETFDH | Uncertain significance | 2126309213 | RCV001964794; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624602 | 159624602 | | | 159624602 | - | | |
NM_004453.4(ETFDH):c.1144G>T (p.Gly382Cys) | 2110 | ETFDH | Uncertain significance | -1 | RCV003023201; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624602 | 159624602 | | | NC_000004.11:g.159624602G>T | - | | |
NM_004453.4(ETFDH):c.1155T>C (p.Ile385=) | 2110 | ETFDH | Likely benign | 2126309228 | RCV001500876; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624613 | 159624613 | | | 159624613 | - | | |
NM_004453.4(ETFDH):c.1166del (p.Pro389fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476367; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624623 | 159624623 | | | | - | | |
NM_004453.4(ETFDH):c.1169del (p.Gly390fs) | 2110 | ETFDH | Pathogenic | 1774519872 | RCV001047294; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624626 | 159624626 | | | 4:g.159624626_159624626del | - | | |
NM_004453.4(ETFDH):c.1175T>C (p.Met392Thr) | 2110 | ETFDH | Uncertain significance | 1774520171 | RCV001563959; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624633 | 159624633 | | | 159624633 | - | | |
NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser) | 2110 | ETFDH | Uncertain significance | -1 | RCV002604067; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624636 | 159624636 | | | NC_000004.11:g.159624636A>G | - | | |
NM_004453.4(ETFDH):c.1182T>G (p.Val394=) | 2110 | ETFDH | Likely benign | 1230662616 | RCV001439880; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624640 | 159624640 | | | 159624640 | - | | |
NM_004453.4(ETFDH):c.1197T>G (p.Gly399=) | 2110 | ETFDH | Likely benign | 2126309283 | RCV001484403; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624655 | 159624655 | | | 159624655 | - | | |
NM_004453.4(ETFDH):c.1209A>C (p.Ala403=) | 2110 | ETFDH | Likely benign | 1198347315 | RCV002086356; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624667 | 159624667 | | | 159624667 | - | | |
NM_004453.4(ETFDH):c.1210A>C (p.Met404Leu) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003043185; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624668 | 159624668 | | | NC_000004.11:g.159624668A>C | - | | |
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 779253471 | RCV000799942; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624669 | 159624669 | | | 4:g.159624669T>C | - | | |
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe) | 2110 | ETFDH | Pathogenic | 1200031596 | RCV001380775|RCV001831378; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159624685 | 159624685 | | | 159624685 | - | | |
NM_004453.4(ETFDH):c.1233A>C (p.Ala411=) | 2110 | ETFDH | Likely benign | 772194053 | RCV001972579; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624691 | 159624691 | | | 159624691 | - | | |
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 398124151 | RCV000081076|RCV000173803; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624692 | 159624692 | | | 4:g.159624692G>T | ClinGen:CA222708 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1245dup (p.Asn416Ter) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476397; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624698 | 159624699 | | | | - | | |
NM_004453.4(ETFDH):c.1244T>C (p.Phe415Ser) | 2110 | ETFDH | Uncertain significance | -1 | RCV003095440; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624702 | 159624702 | | | NC_000004.11:g.159624702T>C | - | | |
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 1480647123 | RCV001553623; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624708 | 159624711 | | | 159624707 | - | | |
NM_004453.4(ETFDH):c.1252C>T (p.Leu418=) | 2110 | ETFDH | Likely benign | 769904185 | RCV001442925; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624710 | 159624710 | | | 159624710 | - | | |
NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser) | 2110 | ETFDH | Uncertain significance | 574791445 | RCV001363757|RCV001831244; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159624713 | 159624713 | | | 159624713 | - | | |
NM_004453.4(ETFDH):c.1256C>T (p.Thr419Ile) | 2110 | ETFDH | Uncertain significance | -1 | RCV002824782; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624714 | 159624714 | | | NC_000004.11:g.159624714C>T | - | | |
NM_004453.4(ETFDH):c.1269C>G (p.Leu423=) | 2110 | ETFDH | Likely benign | -1 | RCV002584042; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624727 | 159624727 | | | | - | | |
NM_004453.4(ETFDH):c.1274C>G (p.Ser425Ter) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476366; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624732 | 159624732 | | | | - | | |
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter) | 2110 | ETFDH | Pathogenic | -1 | RCV002801684; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624734 | 159624734 | | | NC_000004.11:g.159624734A>T | - | | |
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg) | 2110 | ETFDH | Uncertain significance | 200611086 | RCV001279053|RCV002537827; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 4 | 159624735 | 159624735 | | | 4:g.159624735A>G | - | | |
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=) | 2110 | ETFDH | Likely benign | 1284823413 | RCV001279054; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624736 | 159624736 | | | 4:g.159624736G>A | - | | |
NM_004453.4(ETFDH):c.1281_1282del (p.Ile428fs) | 2110 | ETFDH | Pathogenic | -1 | RCV002651860; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624739 | 159624740 | | | NC_000004.11:g.159624739_159624740del | - | | |
NM_004453.4(ETFDH):c.1285G>C (p.Gly429Arg) | 2110 | ETFDH | Uncertain significance | -1 | RCV002651861; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624743 | 159624743 | | | NC_000004.11:g.159624743G>C | - | | |
NM_004453.4(ETFDH):c.1285+1G>A | 2110 | ETFDH | Likely pathogenic | 767046886 | RCV000634893|RCV001835015; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159624744 | 159624744 | | | 4:g.159624744G>A | ClinGen:CA3122581 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1285+2T>G | 2110 | ETFDH | Pathogenic | 2126309523 | RCV001385003; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624745 | 159624745 | | | 159624745 | - | | |
NM_004453.4(ETFDH):c.1285+17T>C | 2110 | ETFDH | Likely benign | -1 | RCV003114857; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159624760 | 159624760 | | | NC_000004.11:g.159624760T>C | - | | |
NM_004453.4(ETFDH):c.1286-16A>G | 2110 | ETFDH | Likely benign | 1163678059 | RCV002177717; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627325 | 159627325 | | | 159627325 | - | | |
NM_004453.4(ETFDH):c.1286-15T>A | 2110 | ETFDH | Uncertain significance | 1248795834 | RCV001890509; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627326 | 159627326 | | | 159627326 | - | | |
NM_004453.4(ETFDH):c.1286-15T>C | 2110 | ETFDH | Likely benign | -1 | RCV002857890; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627326 | 159627326 | | | NC_000004.11:g.159627326T>C | - | | |
NM_004453.4(ETFDH):c.1286-13T>C | 2110 | ETFDH | Uncertain significance | -1 | RCV002626014; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627328 | 159627328 | | | NC_000004.11:g.159627328T>C | - | | |
NM_004453.4(ETFDH):c.1286-12T>C | 2110 | ETFDH | Likely benign | -1 | RCV002647711; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627329 | 159627329 | | | NC_000004.11:g.159627329T>C | - | | |
NM_004453.4(ETFDH):c.1286-10T>C | 2110 | ETFDH | Likely benign | 2126314578 | RCV001410531; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627331 | 159627331 | | | 159627331 | - | | |
NM_004453.4(ETFDH):c.1286-8A>T | 2110 | ETFDH | Likely benign | 1054882235 | RCV000884504; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627333 | 159627333 | | | 4:g.159627333A>T | - | | |
NM_004453.4(ETFDH):c.1290C>G (p.Leu430=) | 2110 | ETFDH | Likely benign | 770765347 | RCV001469954; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627345 | 159627345 | | | 159627345 | - | | |
NM_004453.4(ETFDH):c.1293T>C (p.His431=) | 2110 | ETFDH | Likely benign | 745559526 | RCV002099220; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627348 | 159627348 | | | 159627348 | - | | |
NM_004453.4(ETFDH):c.1309G>A (p.Asp437Asn) | 2110 | ETFDH | Uncertain significance | -1 | RCV002885704; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627364 | 159627364 | | | NC_000004.11:g.159627364G>A | - | | |
NM_004453.4(ETFDH):c.1315T>C (p.Leu439=) | 2110 | ETFDH | Likely benign | 1580422521 | RCV001490631; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627370 | 159627370 | | | 4:g.159627370T>C | - | | |
NM_004453.4(ETFDH):c.1323C>T (p.Asn441=) | 2110 | ETFDH | Likely benign | 1580422538 | RCV002106437; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627378 | 159627378 | | | 159627378 | - | | |
NM_004453.4(ETFDH):c.1324T>A (p.Ser442Thr) | 2110 | ETFDH | Uncertain significance | 1255214567 | RCV001279055; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627379 | 159627379 | | | 4:g.159627379T>A | - | | |
NM_004453.4(ETFDH):c.1326A>T (p.Ser442=) | 2110 | ETFDH | Likely benign | 1188056766 | RCV002080023; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627381 | 159627381 | | | 159627381 | - | | |
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala) | 2110 | ETFDH | Uncertain significance | 760234838 | RCV001944614; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627386 | 159627386 | | | 159627386 | - | | |
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 1156517377 | RCV001362371|RCV001831229|RCV002469380; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791||MedGen:CN169374 | 4 | 159627388 | 159627388 | | | 159627388 | - | | |
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu) | 2110 | ETFDH | Uncertain significance | 763536356 | RCV001052816|RCV001832485|RCV001547531; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791||MedGen:CN517202 | 4 | 159627389 | 159627389 | | | 4:g.159627389G>T | - | | |
NM_004453.4(ETFDH):c.1335G>C (p.Trp445Cys) | 2110 | ETFDH | Likely pathogenic | -1 | RCV002828184; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627390 | 159627390 | | | NC_000004.11:g.159627390G>C | - | | |
NM_004453.4(ETFDH):c.1336A>C (p.Lys446Gln) | 2110 | ETFDH | Uncertain significance | 1431935282 | RCV001299703|RCV001830164; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159627391 | 159627391 | | | 159627391 | - | | |
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter) | 2110 | ETFDH | Pathogenic | 2126314844 | RCV001914838; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627394 | 159627394 | | | 159627394 | - | | |
NM_004453.4(ETFDH):c.1344A>G (p.Leu448=) | 2110 | ETFDH | Likely benign | 765652548 | RCV001429674|RCV003438609; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159627399 | 159627399 | | | 4:g.159627399A>G | - | | |
NM_004453.4(ETFDH):c.1345T>C (p.Tyr449His) | 2110 | ETFDH | Uncertain significance | 750799644 | RCV001279056; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627400 | 159627400 | | | 4:g.159627400T>C | - | | |
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu) | 2110 | ETFDH | Pathogenic | 558005496 | RCV001053110; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627406 | 159627406 | | | 4:g.159627406G>C | - | | |
NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly) | 2110 | ETFDH | Likely pathogenic | 1580422659 | RCV001971135; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627409 | 159627409 | | | 159627409 | - | | |
NM_004453.4(ETFDH):c.1360A>G (p.Ile454Val) | 2110 | ETFDH | Uncertain significance | 766776740 | RCV001322087|RCV001836309; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159627415 | 159627415 | | | 159627415 | - | | |
NM_004453.4(ETFDH):c.1360A>T (p.Ile454Leu) | 2110 | ETFDH | Uncertain significance | 766776740 | RCV001563960; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627415 | 159627415 | | | 159627415 | - | | |
NM_004453.4(ETFDH):c.1361dup (p.Arg455fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003467946; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627415 | 159627416 | | | | - | | |
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 2126314946 | RCV001564973|RCV002573190; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627416 | 159627416 | | | 159627416 | - | | |
NM_004453.4(ETFDH):c.1365A>G (p.Arg455=) | 2110 | ETFDH | Likely benign | 1580422667 | RCV001443356; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627420 | 159627420 | | | 159627420 | - | | |
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 751821289 | RCV000415983|RCV000763116; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627421 | 159627421 | | | 4:g.159627421C>T | ClinGen:CA3122610 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.1366C>G (p.Pro456Ala) | 2110 | ETFDH | Likely pathogenic | 751821289 | RCV001999050; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627421 | 159627421 | | | 159627421 | - | | |
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) | 2110 | ETFDH | Pathogenic | 398124152 | RCV000081077|RCV000174102; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627422 | 159627422 | | | 4:g.159627422C>T | ClinVar:424776,ClinGen:CA285628,UniProtKB:Q16134#VAR_075455 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1368G>A (p.Pro456=) | 2110 | ETFDH | Likely benign | 781354386 | RCV001399511; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627423 | 159627423 | | | 159627423 | - | | |
NM_004453.4(ETFDH):c.1369T>C (p.Ser457Pro) | 2110 | ETFDH | Uncertain significance | 1404615636 | RCV001344588; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627424 | 159627424 | | | 159627424 | - | | |
NM_004453.4(ETFDH):c.1371C>G (p.Ser457=) | 2110 | ETFDH | Likely benign | 749280294 | RCV001468554; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627426 | 159627426 | | | 159627426 | - | | |
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter) | 2110 | ETFDH | Pathogenic | 1580422708 | RCV000806807; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627429 | 159627429 | | | 4:g.159627429C>A | - | | |
NM_004453.4(ETFDH):c.1375del (p.His459fs) | 2110 | ETFDH | Pathogenic | 1774610957 | RCV001204189; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627429 | 159627429 | | | 4:g.159627429_159627429del | - | | |
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 200111698 | RCV000185900|RCV000660476; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627430 | 159627430 | | | NC_000004.11:g.159627430C>T | ClinGen:CA312545 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1377C>T (p.His459=) | 2110 | ETFDH | Likely benign | 1243627865 | RCV001414570; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627432 | 159627432 | | | 159627432 | - | | |
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg) | 2110 | ETFDH | Uncertain significance | 989125087 | RCV001279057; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627433 | 159627433 | | | 4:g.159627433G>A | - | | |
NM_004453.4(ETFDH):c.1378G>T (p.Gly460Ter) | 2110 | ETFDH | Pathogenic | 989125087 | RCV001993214; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627433 | 159627433 | | | 159627433 | - | | |
NM_004453.4(ETFDH):c.1384C>G (p.Leu462Val) | 2110 | ETFDH | Uncertain significance | -1 | RCV002664351; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627439 | 159627439 | | | NC_000004.11:g.159627439C>G | - | | |
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 1561251388 | RCV000723006|RCV000987490; | N | MedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627443 | 159627443 | | | NC_000004.11:g.159627443G>A | - | | |
NM_004453.4(ETFDH):c.1389T>A (p.Gly463=) | 2110 | ETFDH | Likely benign | -1 | RCV003034718; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627444 | 159627444 | | | | - | | |
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter) | 2110 | ETFDH | Pathogenic | 745714733 | RCV001946884; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627450 | 159627450 | | | 159627450 | - | | |
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu) | 2110 | ETFDH | Uncertain significance | 1774612717 | RCV001058151; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627452 | 159627452 | | | 4:g.159627452G>A | - | | |
NM_004453.4(ETFDH):c.1398A>G (p.Gly466=) | 2110 | ETFDH | Likely benign | 1400986353 | RCV001404786; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627453 | 159627453 | | | 159627453 | - | | |
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg) | 2110 | ETFDH | Pathogenic | 1174882036 | RCV001069265; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627454 | 159627454 | | | 4:g.159627454G>C | - | | |
NM_004453.4(ETFDH):c.1400G>A (p.Gly467Glu) | 2110 | ETFDH | Likely pathogenic | -1 | RCV002750721; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627455 | 159627455 | | | NC_000004.11:g.159627455G>A | - | | |
NM_004453.4(ETFDH):c.1401G>T (p.Gly467=) | 2110 | ETFDH | Uncertain significance | 1774613217 | RCV001342748; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627456 | 159627456 | | | 159627456 | - | | |
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 746598421 | RCV000554634|RCV001834766; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159627469 | 159627469 | | | 4:g.159627469G>A | ClinGen:CA3122617 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1415G>C (p.Gly472Ala) | 2110 | ETFDH | Likely pathogenic | 768181815 | RCV001379882; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627470 | 159627470 | | | 159627470 | - | | |
NM_004453.4(ETFDH):c.1417dup (p.Ile473fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476386; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627470 | 159627471 | | | | - | | |
NM_004453.4(ETFDH):c.1416A>T (p.Gly472=) | 2110 | ETFDH | Likely benign | -1 | RCV003034796; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627471 | 159627471 | | | | - | | |
NM_004453.4(ETFDH):c.1431A>G (p.Ile477Met) | 2110 | ETFDH | Uncertain significance | 2126315307 | RCV001971822; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627486 | 159627486 | | | 159627486 | - | | |
NM_004453.4(ETFDH):c.1432T>C (p.Leu478=) | 2110 | ETFDH | Likely benign | 1774615019 | RCV002201025; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627487 | 159627487 | | | 159627487 | - | | |
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer) | 2110 | ETFDH | Pathogenic/Likely pathogenic | -1 | RCV002582381; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627487 | 159627487 | | | NC_000004.11:g.159627488del | - | | |
NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter) | 2110 | ETFDH | Pathogenic | 2126315337 | RCV002035300; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627488 | 159627488 | | | 159627488 | - | | |
NM_004453.4(ETFDH):c.1436G>C (p.Arg479Thr) | 2110 | ETFDH | Uncertain significance | 1774615246 | RCV001244807; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627491 | 159627491 | | | 4:g.159627491G>C | - | | |
NM_004453.4(ETFDH):c.1444G>A (p.Glu482Lys) | 2110 | ETFDH | Uncertain significance | 1774615624 | RCV001240138; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627499 | 159627499 | | | 4:g.159627499G>A | - | | |
NM_004453.4(ETFDH):c.1447_1454del (p.Pro483fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476376; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627502 | 159627509 | | | | - | | |
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 377656387 | RCV000024306|RCV000634896|RCV001250164|RCV001831606|RCV002054473; | N | MedGen:C4016438|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|||MedGen:C3661900 | 4 | 159627503 | 159627503 | | | 4:g.159627503C>T | ClinGen:CA129836,UniProtKB:Q16134#VAR_075457,OMIM:231675.0008 | C4016438 Glutaric acidemia iic, late-onset; | |
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=) | 2110 | ETFDH | Likely benign | 143873407 | RCV000935736|RCV001545051; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159627504 | 159627504 | | | 4:g.159627504G>T | - | | |
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=) | 2110 | ETFDH | Likely benign | 143873407 | RCV001279058; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627504 | 159627504 | | | 4:g.159627504G>A | - | | |
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg) | 2110 | ETFDH | Pathogenic | 1774616485 | RCV001050937|RCV001827320; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159627505 | 159627505 | | | 4:g.159627505T>C | - | | |
NM_004453.4(ETFDH):c.1453A>C (p.Thr485Pro) | 2110 | ETFDH | Uncertain significance | 1774616683 | RCV001279059; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627508 | 159627508 | | | 4:g.159627508A>C | - | | |
NM_004453.4(ETFDH):c.1454C>G (p.Thr485Ser) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476363; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627509 | 159627509 | | | | - | | |
NM_004453.4(ETFDH):c.1457dup (p.Lys487fs) | 2110 | ETFDH | Pathogenic | -1 | RCV003476371; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627511 | 159627512 | | | | - | | |
NM_004453.4(ETFDH):c.1457T>C (p.Leu486Pro) | 2110 | ETFDH | Uncertain significance | 751839607 | RCV001956573; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627512 | 159627512 | | | 159627512 | - | | |
NM_004453.4(ETFDH):c.1461del (p.Lys487fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476390; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627514 | 159627514 | | | | - | | |
NM_004453.4(ETFDH):c.1464_1465del (p.His488fs) | 2110 | ETFDH | Pathogenic | 2126315444 | RCV002007423; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627518 | 159627519 | | | 159627517 | - | | |
NM_004453.4(ETFDH):c.1465A>G (p.Lys489Glu) | 2110 | ETFDH | Uncertain significance | -1 | RCV002289153; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627520 | 159627520 | | | 159627520 | - | | |
NM_004453.4(ETFDH):c.1468+7C>T | 2110 | ETFDH | Likely benign | -1 | RCV002899511; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627530 | 159627530 | | | NC_000004.11:g.159627530C>T | - | | |
NM_004453.4(ETFDH):c.1468+8A>G | 2110 | ETFDH | Likely benign | 755214741 | RCV002205961; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627531 | 159627531 | | | 159627531 | - | | |
NM_004453.4(ETFDH):c.1468+10A>G | 2110 | ETFDH | Likely benign | 144205191 | RCV000429787|RCV001494808; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627533 | 159627533 | | | 4:g.159627533A>G | ClinGen:CA3122628 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.1468+10A>T | 2110 | ETFDH | Likely benign | 144205191 | RCV001454223; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627533 | 159627533 | | | 159627533 | - | | |
NM_004453.4(ETFDH):c.1468+12_1468+13del | 2110 | ETFDH | Likely benign | 769120603 | RCV002103908; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627535 | 159627536 | | | 159627534 | - | | |
NM_004453.4(ETFDH):c.1468+15A>C | 2110 | ETFDH | Benign | 146561214 | RCV000185884|RCV000367855; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627538 | 159627538 | | | 4:g.159627538A>C | ClinGen:CA312514 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1468+16G>A | 2110 | ETFDH | Likely benign | -1 | RCV003030598; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627539 | 159627539 | | | NC_000004.11:g.159627539G>A | - | | |
NM_004453.4(ETFDH):c.1469-19T>G | 2110 | ETFDH | Likely benign | 2126316001 | RCV002094641; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627762 | 159627762 | | | 159627762 | - | | |
NM_004453.4(ETFDH):c.1469-18C>T | 2110 | ETFDH | Likely benign | -1 | RCV002735988; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627763 | 159627763 | | | NC_000004.11:g.159627763C>T | - | | |
NM_004453.4(ETFDH):c.1469-8T>C | 2110 | ETFDH | Likely benign | 1774625470 | RCV001279060; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627773 | 159627773 | | | 4:g.159627773T>C | - | | |
NM_004453.4(ETFDH):c.1469-7G>T | 2110 | ETFDH | Likely benign | -1 | RCV003040234; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627774 | 159627774 | | | NC_000004.11:g.159627774G>T | - | | |
NM_004453.4(ETFDH):c.1469-1G>T | 2110 | ETFDH | Likely pathogenic | 1561251640 | RCV000722270|RCV001868918; | N | MedGen:CN517202|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627780 | 159627780 | | | NC_000004.11:g.159627780G>T | - | | |
NM_004453.4(ETFDH):c.1471_1473delinsCAAAAGCC (p.Ser491fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003145011; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627783 | 159627785 | | | NC_000004.11:g.159627783_159627785delinsCAAAAGCC | - | | |
NM_004453.4(ETFDH):c.1472C>T (p.Ser491Phe) | 2110 | ETFDH | Uncertain significance | -1 | RCV002829695; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627784 | 159627784 | | | NC_000004.11:g.159627784C>T | - | | |
NM_004453.4(ETFDH):c.1479T>C (p.Phe493=) | 2110 | ETFDH | Likely benign | 1423401867 | RCV001478665; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627791 | 159627791 | | | 159627791 | - | | |
NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln) | 2110 | ETFDH | Uncertain significance | 771456968 | RCV001704964|RCV002517822|RCV003165419; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 4 | 159627792 | 159627792 | | | NC_000004.11:g.159627792G>C | ClinGen:CA312515 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp) | 2110 | ETFDH | Uncertain significance | 774810601 | RCV001145313|RCV003246722; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 4 | 159627795 | 159627795 | | | 4:g.159627795C>T | - | | |
NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln) | 2110 | ETFDH | Uncertain significance | -1 | RCV002663952; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627796 | 159627796 | | | NC_000004.11:g.159627796G>A | - | | |
NM_004453.4(ETFDH):c.1485G>A (p.Arg495=) | 2110 | ETFDH | Likely benign | -1 | RCV002851906; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627797 | 159627797 | | | | - | | |
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 863224869 | RCV001381020; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627799 | 159627799 | | | NC_000004.11:g.159627799T>C | ClinVar:424776,ClinGen:CA351297 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu) | 2110 | ETFDH | Uncertain significance | 752947878 | RCV001806786|RCV001869496; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627815 | 159627815 | | | 159627815 | - | | |
NM_004453.4(ETFDH):c.1503T>C (p.Asp501=) | 2110 | ETFDH | Likely benign | 752947878 | RCV002078007; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627815 | 159627815 | | | 159627815 | - | | |
NM_004453.4(ETFDH):c.1506C>T (p.Cys502=) | 2110 | ETFDH | Likely benign | 1405831535 | RCV001465190; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627818 | 159627818 | | | 159627818 | - | | |
NM_004453.4(ETFDH):c.1512dup (p.Ile505fs) | 2110 | ETFDH | Pathogenic | 2126316172 | RCV001912048; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627823 | 159627824 | | | 159627823 | - | | |
NM_004453.4(ETFDH):c.1512T>C (p.Pro504=) | 2110 | ETFDH | Likely benign | 940960964 | RCV001430755; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627824 | 159627824 | | | 159627824 | - | | |
NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr) | 2110 | ETFDH | Likely pathogenic | 764164607 | RCV001976471; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627826 | 159627826 | | | 159627826 | - | | |
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 146882697 | RCV001145314|RCV001703659; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159627830 | 159627830 | | | 4:g.159627830G>A | ClinGen:CA3122652 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.1522C>A (p.Pro508Thr) | 2110 | ETFDH | Pathogenic | 751394068 | RCV001380776; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627834 | 159627834 | | | 159627834 | - | | |
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 754795292 | RCV001147256|RCV001772343; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202 | 4 | 159627842 | 159627842 | | | 4:g.159627842C>T | - | | |
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 780768015 | RCV000174333|RCV000275519; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627843 | 159627843 | | | 4:g.159627843G>A | ClinGen:CA239854 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) | 2110 | ETFDH | Benign/Likely benign | 77484245 | RCV000124920|RCV000332982|RCV000676847; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159627845 | 159627845 | | | 4:g.159627845T>C | ClinGen:CA290774 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1539G>C (p.Gln513His) | 2110 | ETFDH | Uncertain significance | 1445646586 | RCV001881829; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627851 | 159627851 | | | 159627851 | - | | |
NM_004453.4(ETFDH):c.1539G>A (p.Gln513=) | 2110 | ETFDH | Likely benign | -1 | RCV003073558; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627851 | 159627851 | | | | - | | |
NM_004453.4(ETFDH):c.1541T>C (p.Ile514Thr) | 2110 | ETFDH | Uncertain significance | -1 | RCV002612761; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627853 | 159627853 | | | NC_000004.11:g.159627853T>C | - | | |
NM_004453.4(ETFDH):c.1542C>T (p.Ile514=) | 2110 | ETFDH | Likely benign | 2126316304 | RCV002201636; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627854 | 159627854 | | | 159627854 | - | | |
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser) | 2110 | ETFDH | Likely pathogenic | 1580423432 | RCV000987491; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627859 | 159627859 | | | 4:g.159627859T>C | - | | |
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=) | 2110 | ETFDH | Likely benign | 533097197 | RCV000944591; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627867 | 159627867 | | | 4:g.159627867T>C | - | | |
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 1774630121 | RCV001035116; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627867 | 159627868 | | | 4:g.159627867_159627868del | - | | |
NM_004453.4(ETFDH):c.1557G>A (p.Leu519=) | 2110 | ETFDH | Likely benign | -1 | RCV003037710; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627869 | 159627869 | | | | - | | |
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=) | 2110 | ETFDH | Likely benign | 566844923 | RCV000897763|RCV001273692; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159627872 | 159627872 | | | 4:g.159627872A>C | - | | |
NM_004453.4(ETFDH):c.1560A>T (p.Ser520=) | 2110 | ETFDH | Likely benign | 566844923 | RCV002148390; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627872 | 159627872 | | | 159627872 | - | | |
NM_004453.4(ETFDH):c.1560A>G (p.Ser520=) | 2110 | ETFDH | Likely benign | 566844923 | RCV002186514; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627872 | 159627872 | | | 159627872 | - | | |
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 727503919 | RCV001850092|RCV000174332; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202 | 4 | 159627880 | 159627881 | | | 4:g.159627880_159627881del | ClinGen:CA233955 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1573A>C (p.Ser525Arg) | 2110 | ETFDH | Uncertain significance | -1 | RCV002284040; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627885 | 159627885 | | | 159627885 | - | | |
NM_004453.4(ETFDH):c.1581T>G (p.Thr527=) | 2110 | ETFDH | Likely benign | -1 | RCV002740574; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627893 | 159627893 | | | | - | | |
NM_004453.4(ETFDH):c.1582A>G (p.Asn528Asp) | 2110 | ETFDH | Uncertain significance | -1 | RCV002720947; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627894 | 159627894 | | | NC_000004.11:g.159627894A>G | - | | |
NM_004453.4(ETFDH):c.1584T>C (p.Asn528=) | 2110 | ETFDH | Likely benign | 2126316485 | RCV002094057; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627896 | 159627896 | | | 159627896 | - | | |
NM_004453.4(ETFDH):c.1586A>G (p.His529Arg) | 2110 | ETFDH | Likely pathogenic | 2126316486 | RCV002013568; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627898 | 159627898 | | | 159627898 | - | | |
NM_004453.4(ETFDH):c.1587T>G (p.His529Gln) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003026766; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627899 | 159627899 | | | NC_000004.11:g.159627899T>G | - | | |
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) | 2110 | ETFDH | Benign/Likely benign | 143015234 | RCV000370319|RCV000676848; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159627902 | 159627902 | | | NC_000004.11:g.159627902A>G | ClinGen:CA3122666 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1593T>C (p.His531=) | 2110 | ETFDH | Likely benign | 2126316550 | RCV001398592; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627905 | 159627905 | | | 159627905 | - | | |
NM_004453.4(ETFDH):c.1596C>T (p.Asp532=) | 2110 | ETFDH | Likely benign | -1 | RCV002877044; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627908 | 159627908 | | | | - | | |
NM_004453.4(ETFDH):c.1597C>A (p.Gln533Lys) | 2110 | ETFDH | Uncertain significance | 2126316568 | RCV001367066; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627909 | 159627909 | | | 159627909 | - | | |
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 200920510 | RCV000483304|RCV000818859; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627913 | 159627913 | | | NC_000004.11:g.159627913C>T | ClinGen:CA3122669 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=) | 2110 | ETFDH | Benign/Likely benign | 142475999 | RCV000880894|RCV001718825; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159627914 | 159627914 | | | 4:g.159627914G>A | ClinGen:CA3122670 | CN169374 not specified; | |
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser) | 2110 | ETFDH | Uncertain significance | 748346465 | RCV001279061; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627915 | 159627915 | | | 4:g.159627915G>T | - | | |
NM_004453.4(ETFDH):c.1607_1608del (p.His536fs) | 2110 | ETFDH | Pathogenic | 1774633192 | RCV001050404; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627916 | 159627917 | | | 4:g.159627916_159627917del | - | | |
NM_004453.4(ETFDH):c.1605A>G (p.Ala535=) | 2110 | ETFDH | Likely benign | -1 | RCV002942254; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627917 | 159627917 | | | | - | | |
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del) | 2110 | ETFDH | Uncertain significance | -1 | RCV003147133; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627920 | 159627925 | | | NC_000004.11:g.159627925_159627930del | - | | |
NM_004453.4(ETFDH):c.1615T>G (p.Leu539Val) | 2110 | ETFDH | Uncertain significance | -1 | RCV002786135; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627927 | 159627927 | | | NC_000004.11:g.159627927T>G | - | | |
NM_004453.4(ETFDH):c.1623T>C (p.Asp541=) | 2110 | ETFDH | Likely benign | 1580423557 | RCV000978261; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627935 | 159627935 | | | 4:g.159627935T>C | - | | |
NM_004453.4(ETFDH):c.1623del (p.Asp541fs) | 2110 | ETFDH | Pathogenic | 2126316669 | RCV001385872; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627935 | 159627935 | | | 159627934 | - | | |
NM_004453.4(ETFDH):c.1626C>T (p.Asp542=) | 2110 | ETFDH | Likely benign | -1 | RCV003118818; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627938 | 159627938 | | | | - | | |
NM_004453.4(ETFDH):c.1627_1628insAT (p.Ser543fs) | 2110 | ETFDH | Pathogenic | -1 | RCV002760181; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627939 | 159627940 | | | NC_000004.11:g.159627939_159627940insAT | - | | |
NM_004453.4(ETFDH):c.1629dup (p.Ile544fs) | 2110 | ETFDH | Pathogenic | 2126316699 | RCV001829273; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627940 | 159627941 | | | 159627940 | - | | |
NM_004453.4(ETFDH):c.1628G>A (p.Ser543Asn) | 2110 | ETFDH | Uncertain significance | -1 | RCV002730141; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627940 | 159627940 | | | NC_000004.11:g.159627940G>A | - | | |
NM_004453.4(ETFDH):c.1629T>C (p.Ser543=) | 2110 | ETFDH | Likely benign | -1 | RCV003019108; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627941 | 159627941 | | | | - | | |
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 771393519 | RCV001783210; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627942 | 159627943 | | | 159627942 | - | | |
NM_004453.4(ETFDH):c.1631T>C (p.Ile544Thr) | 2110 | ETFDH | Uncertain significance | -1 | RCV002654934; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627943 | 159627943 | | | NC_000004.11:g.159627943T>C | - | | |
NM_004453.4(ETFDH):c.1646del (p.Asn549fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476374; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627956 | 159627956 | | | | - | | |
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) | 2110 | ETFDH | Pathogenic | 1469053638 | RCV000987492|RCV001827126; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159627959 | 159627960 | | | 4:g.159627959_159627960del | - | | |
NM_004453.4(ETFDH):c.1650_1651del (p.Ser551fs) | 2110 | ETFDH | Pathogenic | 2126316783 | RCV001902412; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627961 | 159627962 | | | 159627960 | - | | |
NM_004453.4(ETFDH):c.1650G>A (p.Leu550=) | 2110 | ETFDH | Likely benign | -1 | RCV003028561; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627962 | 159627962 | | | | - | | |
NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu) | 2110 | ETFDH | Uncertain significance | 772351035 | RCV001509242|RCV002564278; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627964 | 159627964 | | | 159627964 | - | | |
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter) | 2110 | ETFDH | Pathogenic/Likely pathogenic | -1 | RCV002471536; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627964 | 159627964 | | | NC_000004.11:g.159627964C>A | - | | |
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 1408118210 | RCV001147257; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627965 | 159627965 | | | 4:g.159627965G>A | - | | |
NM_004453.4(ETFDH):c.1653G>T (p.Ser551=) | 2110 | ETFDH | Likely benign | 1408118210 | RCV002167386; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627965 | 159627965 | | | 159627965 | - | | |
NM_004453.4(ETFDH):c.1654A>C (p.Ile552Leu) | 2110 | ETFDH | Uncertain significance | -1 | RCV002640410; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627966 | 159627966 | | | NC_000004.11:g.159627966A>C | - | | |
NM_004453.4(ETFDH):c.1658_1659del (p.Ile552_Tyr553insTer) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476391; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627966 | 159627967 | | | | - | | |
NM_004453.4(ETFDH):c.1656dup (p.Tyr553fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476387; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627967 | 159627968 | | | | - | | |
NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His) | 2110 | ETFDH | Likely pathogenic | 182913453 | RCV002027116; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627969 | 159627969 | | | 159627969 | - | | |
NM_004453.4(ETFDH):c.1659T>C (p.Tyr553=) | 2110 | ETFDH | Likely benign | 1333454413 | RCV002096346; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627971 | 159627971 | | | 159627971 | - | | |
NM_004453.4(ETFDH):c.1660G>T (p.Asp554Tyr) | 2110 | ETFDH | Uncertain significance | -1 | RCV002590696; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627972 | 159627972 | | | NC_000004.11:g.159627972G>T | - | | |
NM_004453.4(ETFDH):c.1662T>C (p.Asp554=) | 2110 | ETFDH | Likely benign | 2126316862 | RCV002079076; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627974 | 159627974 | | | 159627974 | - | | |
NM_004453.4(ETFDH):c.1664G>A (p.Gly555Glu) | 2110 | ETFDH | Uncertain significance | 2126316873 | RCV001967748; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627976 | 159627976 | | | 159627976 | - | | |
NM_004453.4(ETFDH):c.1665G>A (p.Gly555=) | 2110 | ETFDH | Likely benign | 1305282556 | RCV002202167; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627977 | 159627977 | | | 159627977 | - | | |
NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser) | 2110 | ETFDH | Pathogenic | 2126316885 | RCV001938288; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627978 | 159627978 | | | 159627978 | - | | |
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=) | 2110 | ETFDH | Likely benign | 747312700 | RCV001279062; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627980 | 159627980 | | | 4:g.159627980C>T | - | | |
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 1279728239 | RCV001246805|RCV002307709; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202 | 4 | 159627981 | 159627981 | | | 4:g.159627981G>A | - | | |
NM_004453.4(ETFDH):c.1674G>A (p.Gln558=) | 2110 | ETFDH | Likely benign | 2126316924 | RCV001471703; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627986 | 159627986 | | | 159627986 | - | | |
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter) | 2110 | ETFDH | Pathogenic | -1 | RCV002664352; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627987 | 159627987 | | | NC_000004.11:g.159627987C>T | - | | |
NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln) | 2110 | ETFDH | Uncertain significance | 768961719 | RCV001279063; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627988 | 159627988 | | | 4:g.159627988G>A | - | | |
NM_004453.4(ETFDH):c.1678T>C (p.Phe560Leu) | 2110 | ETFDH | Uncertain significance | 374585539 | RCV001280237; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627990 | 159627990 | | | 4:g.159627990T>C | - | | |
NM_004453.4(ETFDH):c.1680C>A (p.Phe560Leu) | 2110 | ETFDH | Uncertain significance | -1 | RCV002756120; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159627992 | 159627992 | | | NC_000004.11:g.159627992C>A | - | | |
NM_004453.4(ETFDH):c.1690+1G>T | 2110 | ETFDH | Pathogenic | 917285990 | RCV000634895; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159628003 | 159628003 | | | NC_000004.11:g.159628003G>T | ClinGen:CA108819497 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1690+2T>G | 2110 | ETFDH | Pathogenic/Likely pathogenic | -1 | RCV002461618|RCV003103104|RCV003408283; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159628004 | 159628004 | | | NC_000004.11:g.159628004T>G | - | | |
NM_004453.4(ETFDH):c.1690+4A>G | 2110 | ETFDH | Uncertain significance | 752590057 | RCV001280238; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159628006 | 159628006 | | | 4:g.159628006A>G | - | | |
NM_004453.4(ETFDH):c.1690+15C>T | 2110 | ETFDH | Benign | 11931339 | RCV000124921|RCV000268662; | N | MedGen:CN169374|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159628017 | 159628017 | | | 4:g.159628017C>T | ClinGen:CA290776 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1690+18T>C | 2110 | ETFDH | Likely benign | -1 | RCV003014250; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159628020 | 159628020 | | | NC_000004.11:g.159628020T>C | - | | |
NM_004453.4(ETFDH):c.1690+20C>T | 2110 | ETFDH | Likely benign | 376588328 | RCV002146863; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159628022 | 159628022 | | | 159628022 | - | | |
NM_004453.4(ETFDH):c.1691-14_1691-9del | 2110 | ETFDH | Likely benign | -1 | RCV002716469; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629498 | 159629503 | | | NC_000004.11:g.159629502_159629507del | - | | |
NM_004453.4(ETFDH):c.1691-8_1691-2dup | 2110 | ETFDH | Likely benign | 1326899328 | RCV002167097; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629506 | 159629507 | | | 159629506 | - | | |
NM_004453.4(ETFDH):c.1691-4T>C | 2110 | ETFDH | Likely benign | -1 | RCV003057541; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629512 | 159629512 | | | NC_000004.11:g.159629512T>C | - | | |
NM_004453.4(ETFDH):c.1691-3C>G | 2110 | ETFDH | Pathogenic | -1 | RCV003476384; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629513 | 159629513 | | | | - | | |
NM_004453.4(ETFDH):c.1691-2_1691-1delinsGA | 2110 | ETFDH | Likely pathogenic | -1 | RCV002870845; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629514 | 159629515 | | | NC_000004.11:g.159629514_159629515delinsGA | - | | |
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=) | 2110 | ETFDH | Likely benign | 377544087 | RCV001280239|RCV003326559; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159629517 | 159629517 | | | 4:g.159629517A>T | - | | |
NM_004453.4(ETFDH):c.1698T>C (p.Tyr566=) | 2110 | ETFDH | Likely benign | 2126320707 | RCV002156279; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629523 | 159629523 | | | 159629523 | - | | |
NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter) | 2110 | ETFDH | Pathogenic | 1774695889 | RCV001946803; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629524 | 159629524 | | | 159629524 | - | | |
NM_004453.4(ETFDH):c.1699G>A (p.Glu567Lys) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003467945; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629524 | 159629524 | | | | - | | |
NM_004453.4(ETFDH):c.1705G>T (p.Val569Leu) | 2110 | ETFDH | Uncertain significance | -1 | RCV002938830; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629530 | 159629530 | | | NC_000004.11:g.159629530G>T | - | | |
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu) | 2110 | ETFDH | Uncertain significance | -1 | RCV002941867|RCV003320904; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202 | 4 | 159629536 | 159629536 | | | NC_000004.11:g.159629536G>C | - | | |
NM_004453.4(ETFDH):c.1716A>G (p.Glu572=) | 2110 | ETFDH | Likely benign | 2126320794 | RCV002082289; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629541 | 159629541 | | | 159629541 | - | | |
NM_004453.4(ETFDH):c.1717C>T (p.Gln573Ter) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476369; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629542 | 159629542 | | | | - | | |
NM_004453.4(ETFDH):c.1720G>A (p.Gly574Ser) | 2110 | ETFDH | Uncertain significance | 867281765 | RCV001946067; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629545 | 159629545 | | | 159629545 | - | | |
NM_004453.4(ETFDH):c.1725T>C (p.Asp575=) | 2110 | ETFDH | Likely benign | 1774697442 | RCV002134084; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629550 | 159629550 | | | 159629550 | - | | |
NM_004453.4(ETFDH):c.1726G>A (p.Gly576Arg) | 2110 | ETFDH | Uncertain significance | 760578708 | RCV001280240|RCV001356042; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202 | 4 | 159629551 | 159629551 | | | 4:g.159629551G>A | - | | |
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp) | 2110 | ETFDH | Uncertain significance | 763912783 | RCV001147258|RCV002298875; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN169374 | 4 | 159629557 | 159629557 | | | 4:g.159629557C>T | - | | |
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln) | 2110 | ETFDH | Uncertain significance | 200290334 | RCV000634894|RCV001562757; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159629558 | 159629558 | | | NC_000004.11:g.159629558G>A | ClinGen:CA3122710 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1734G>A (p.Arg578=) | 2110 | ETFDH | Likely benign | 761505388 | RCV001502973; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629559 | 159629559 | | | 159629559 | - | | |
NM_004453.4(ETFDH):c.1739A>G (p.Gln580Arg) | 2110 | ETFDH | Uncertain significance | 749989069 | RCV002020626; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629564 | 159629564 | | | 159629564 | - | | |
NM_004453.4(ETFDH):c.1745del (p.Asn582fs) | 2110 | ETFDH | Pathogenic | 1774698674 | RCV001333248; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629568 | 159629568 | | | 159629567 | - | | |
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His) | 2110 | ETFDH | Uncertain significance | 757842479 | RCV001212496|RCV003159189; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202 | 4 | 159629569 | 159629569 | | | 4:g.159629569A>C | - | | |
NM_004453.4(ETFDH):c.1750C>G (p.Gln584Glu) | 2110 | ETFDH | Uncertain significance | -1 | RCV003051365; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629575 | 159629575 | | | NC_000004.11:g.159629575C>G | - | | |
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=) | 2110 | ETFDH | Likely benign | 755342205 | RCV001280241; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629583 | 159629583 | | | 4:g.159629583T>C | - | | |
NM_004453.4(ETFDH):c.1759G>T (p.Val587Leu) | 2110 | ETFDH | Uncertain significance | -1 | RCV002662501; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629584 | 159629584 | | | NC_000004.11:g.159629584G>T | - | | |
NM_004453.4(ETFDH):c.1762C>T (p.His588Tyr) | 2110 | ETFDH | Likely pathogenic | 1225042876 | RCV001988925; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629587 | 159629587 | | | 159629587 | - | | |
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg) | 2110 | ETFDH | Pathogenic | 781498366 | RCV001380777; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629588 | 159629588 | | | 159629588 | - | | |
NM_004453.4(ETFDH):c.1764T>C (p.His588=) | 2110 | ETFDH | Likely benign | 141180629 | RCV000933504; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629589 | 159629589 | | | 4:g.159629589T>C | - | | |
NM_004453.4(ETFDH):c.1767T>C (p.Cys589=) | 2110 | ETFDH | Likely benign | 1580425819 | RCV001453444; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629592 | 159629592 | | | 4:g.159629592T>C | - | | |
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 767795266 | RCV000224798|RCV000543124; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629598 | 159629599 | | | 4:g.159629598_159629599del | ClinGen:CA3122720 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_004453.4(ETFDH):c.1773A>G (p.Thr591=) | 2110 | ETFDH | Likely benign | -1 | RCV002622377; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629598 | 159629598 | | | | - | | |
NM_004453.4(ETFDH):c.1781_1783dup (p.Ile594dup) | 2110 | ETFDH | Uncertain significance | 1774700761 | RCV001217884; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629603 | 159629604 | | | 4:g.159629603_159629604insTAT | - | | |
NM_004453.4(ETFDH):c.1785del (p.Asp596fs) | 2110 | ETFDH | Pathogenic | 2126321079 | RCV001377485; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629608 | 159629608 | | | 159629607 | - | | |
NM_004453.4(ETFDH):c.1786G>A (p.Asp596Asn) | 2110 | ETFDH | Likely pathogenic | 1165102742 | RCV001994364; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629611 | 159629611 | | | 159629611 | - | | |
NM_004453.4(ETFDH):c.1793G>A (p.Ser598Asn) | 2110 | ETFDH | Uncertain significance | -1 | RCV003052968; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629618 | 159629618 | | | NC_000004.11:g.159629618G>A | - | | |
NM_004453.4(ETFDH):c.1795C>T (p.Gln599Ter) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003476379; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629620 | 159629620 | | | | - | | |
NM_004453.4(ETFDH):c.1798A>C (p.Asn600His) | 2110 | ETFDH | Uncertain significance | -1 | RCV003023267; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629623 | 159629623 | | | NC_000004.11:g.159629623A>C | - | | |
NM_004453.4(ETFDH):c.1800T>C (p.Asn600=) | 2110 | ETFDH | Likely benign | 2126321129 | RCV002190170; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629625 | 159629625 | | | 159629625 | - | | |
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter) | 2110 | ETFDH | Likely pathogenic | 1580425904 | RCV000796466; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629627 | 159629628 | | | 4:g.159629627_159629628insTAAC | - | | |
NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter) | 2110 | ETFDH | Pathogenic | 796051960 | RCV000185901|RCV003474942; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629634 | 159629634 | | | NC_000004.11:g.159629634G>A | ClinGen:CA312547 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.1810G>A (p.Val604Met) | 2110 | ETFDH | Likely pathogenic | 1436514087 | RCV002018369; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629635 | 159629635 | | | 159629635 | - | | |
NM_004453.4(ETFDH):c.1811T>A (p.Val604Glu) | 2110 | ETFDH | Likely pathogenic | 2126321188 | RCV002036726; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629636 | 159629636 | | | 159629636 | - | | |
NM_004453.4(ETFDH):c.1813dup (p.Val605fs) | 2110 | ETFDH | Likely pathogenic | -1 | RCV002283362; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629636 | 159629637 | | | 159629636 | - | | |
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) | 2110 | ETFDH | Benign/Likely benign | 17843967 | RCV000676849|RCV001083639; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629637 | 159629637 | | | 4:g.159629637G>A | ClinGen:CA3122729 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.1813G>T (p.Val605Leu) | 2110 | ETFDH | Uncertain significance | 1774702955 | RCV001974102|RCV003289338; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MeSH:D030342,MedGen:C0950123 | 4 | 159629638 | 159629638 | | | 159629638 | - | | |
NM_004453.4(ETFDH):c.1815A>G (p.Val605=) | 2110 | ETFDH | Likely benign | 1248188975 | RCV002115043; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629640 | 159629640 | | | 159629640 | - | | |
NM_004453.4(ETFDH):c.1816C>A (p.Pro606Thr) | 2110 | ETFDH | Uncertain significance | 1292587000 | RCV001975432; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629641 | 159629641 | | | 159629641 | - | | |
NM_004453.4(ETFDH):c.1823G>A (p.Gly608Asp) | 2110 | ETFDH | Uncertain significance | 1303489545 | RCV001320015; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629648 | 159629648 | | | 159629648 | - | | |
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg) | 2110 | ETFDH | Likely pathogenic | 2126321296 | RCV002038411; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629653 | 159629653 | | | 159629653 | - | | |
NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg) | 2110 | ETFDH | Likely pathogenic | -1 | RCV003388383|RCV003397028; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159629656 | 159629656 | | | | - | | |
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu) | 2110 | ETFDH | Pathogenic/Likely pathogenic | 761669036 | RCV000255489|RCV001069003|RCV001833298; | N | MedGen:C3661900|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791| | 4 | 159629657 | 159629657 | | | 4:g.159629657G>A | ClinGen:CA3122732,UniProtKB:Q16134#VAR_075460 | CN517202 not provided; | |
NM_004453.4(ETFDH):c.1834C>A (p.Pro612Thr) | 2110 | ETFDH | Uncertain significance | -1 | RCV003089794; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629659 | 159629659 | | | NC_000004.11:g.159629659C>A | - | | |
NM_004453.4(ETFDH):c.1834C>T (p.Pro612Ser) | 2110 | ETFDH | Uncertain significance | -1 | RCV002843226; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629659 | 159629659 | | | NC_000004.11:g.159629659C>T | - | | |
NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs) | 2110 | ETFDH | Pathogenic | -1 | RCV002664362; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629666 | 159629667 | | | NC_000004.11:g.159629667_159629670dup | - | | |
NM_004453.4(ETFDH):c.1848A>T (p.Gly616=) | 2110 | ETFDH | Likely benign | -1 | RCV003041289; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629673 | 159629673 | | | | - | | |
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln) | 2110 | ETFDH | Conflicting interpretations of pathogenicity | 765742496 | RCV002047712; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629677 | 159629677 | | | 159629677 | - | | |
NM_004453.4(ETFDH):c.1852T>G (p.Ter618Glu) | 2110 | ETFDH | Uncertain significance | 765742496 | RCV001280242; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629677 | 159629677 | | | 4:g.159629677T>G | - | | |
NM_004453.4(ETFDH):c.*53del | 2110 | ETFDH | Uncertain significance | 753793193 | RCV000326186; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629732 | 159629732 | | | NC_000004.11:g.159629732del | ClinGen:CA3122742 | | |
NM_004453.4(ETFDH):c.*67T>G | 2110 | ETFDH | Uncertain significance | 1774708906 | RCV001147259; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 4 | 159629746 | 159629746 | | | 4:g.159629746T>G | - | | |
NM_004453.4(ETFDH):c.*135A>C | 2110 | ETFDH | Benign | 17843966 | RCV000383079|RCV001691994; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:C3661900 | 4 | 159629814 | 159629814 | | | NC_000004.11:g.159629814A>C | ClinGen:CA10620396 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_025207.5(FLAD1):c.324del (p.Arg109fs) | 80308 | FLAD1 | Pathogenic | 876661314 | RCV000223942; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 1 | 154956491 | 154956491 | | | 1:g.154956491_154956491del | ClinGen:CA10575990 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_025207.5(FLAD1):c.401_404del (p.Phe134fs) | 80308 | FLAD1 | Pathogenic | 876661313 | RCV000234837|RCV000223949; | N | MONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 1 | 154960605 | 154960608 | | | NC_000001.10:g.154960605TTCT[1] | ClinGen:CA10575991,OMIM:610595.0001 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_025207.5(FLAD1):c.498del (p.Ser167fs) | 80308 | FLAD1 | Pathogenic | 876661315 | RCV000223946; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 1 | 154960706 | 154960706 | | | 1:g.154960706_154960706del | ClinGen:CA10575992 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_025207.5(FLAD1):c.508T>C (p.Phe170Leu) | 80308 | FLAD1 | Likely benign | 761928040 | RCV000223950; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 1 | 154960716 | 154960716 | | | 1:g.154960716T>C | ClinGen:CA1134344 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs) | 80308 | FLAD1 | Pathogenic | 876661312 | RCV000223945|RCV000234836; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100 | 1 | 154960734 | 154960745 | | | NC_000001.10:g.154960734_154960745delinsCA | ClinGen:CA10575993,OMIM:610595.0006 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_025207.5(FLAD1):c.568_569dup (p.Val191fs) | 80308 | FLAD1 | Pathogenic | 876661310 | RCV000234839|RCV000223944; | N | MONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100|MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791 | 1 | 154960775 | 154960776 | | | NC_000001.10:g.154960776_154960777dup | ClinGen:CA10575994,OMIM:610595.0004 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter) | 80308 | FLAD1 | Pathogenic | 199979286 | RCV000986423|RCV001382523; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MedGen:CN517202 | 1 | 154960953 | 154960953 | | | 1:g.154960953C>T | - | | |
NM_025207.5(FLAD1):c.836del (p.Phe279fs) | 80308 | FLAD1 | Pathogenic | 876661311 | RCV000223939|RCV000234842; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100 | 1 | 154961043 | 154961043 | | | 1:g.154961043_154961043del | OMIM:610595.0005,ClinGen:CA10575995 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del) | 80308 | FLAD1 | Pathogenic | 876661309 | RCV000223940|RCV000234840; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100 | 1 | 154962932 | 154962934 | | | NC_000001.10:g.154962934_154962936del | ClinGen:CA10575996,OMIM:610595.0002 | C0268596 231680 Glutaric aciduria, type 2; | |
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) | 80308 | FLAD1 | Pathogenic/Likely pathogenic | 771466122 | RCV000223948|RCV000234835|RCV000521126|RCV003407734; | N | MONDO:MONDO:0009282,MedGen:C0268596,OMIM:231680, Orphanet:26791|MONDO:MONDO:0009703,MedGen:C4310822,OMIM:255100|MedGen:C3661900| | 1 | 154965222 | 154965222 | | | 1:g.154965222C>T | ClinGen:CA1134629,UniProtKB:Q8NFF5#VAR_077070,OMIM:610595.0003 | C0268596 231680 Glutaric aciduria, type 2; | |