NM_000159.4(GCDH):c.122C>T (p.Ala41Val) |
single nucleotide variant |
not provided [RCV003312433] |
Chr19:12891517 [GRCh38] Chr19:13002331 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.197_198del (p.Leu66fs) |
deletion |
Glutaric aciduria, type 1 [RCV002310081] |
Chr19:12891899..12891900 [GRCh38] Chr19:13002713..13002714 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.128-82T>G |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001527184]|not provided [RCV001597292] |
Chr19:12891749 [GRCh38] Chr19:13002563 [GRCh37] Chr19:19p13.13 |
benign |
NM_000159.4(GCDH):c.127+64G>C |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001527183]|not provided [RCV001598690] |
Chr19:12891586 [GRCh38] Chr19:13002400 [GRCh37] Chr19:19p13.13 |
benign |
NM_000159.4(GCDH):c.-4G>C |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001827535]|not provided [RCV001588214] |
Chr19:12891301 [GRCh38] Chr19:13002115 [GRCh37] Chr19:19p13.13 |
uncertain significance |
GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 |
copy number gain |
See cases [RCV000052911] |
Chr19:12850595..13290954 [GRCh38] Chr19:12961409..13401768 [GRCh37] Chr19:12822409..13262768 [NCBI36] Chr19:19p13.13 |
pathogenic |
NM_000159.4(GCDH):c.38G>A (p.Arg13His) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000910751]|not provided [RCV003229000] |
Chr19:12891342 [GRCh38] Chr19:13002156 [GRCh37] Chr19:19p13.13 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000159.4(GCDH):c.-35+3A>G |
single nucleotide variant |
not specified [RCV000435483] |
Chr19:12891205 [GRCh38] Chr19:13002019 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.-47G>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001197962] |
Chr19:12891190 [GRCh38] Chr19:13002004 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.-35+9G>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000267770] |
Chr19:12891211 [GRCh38] Chr19:13002025 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.-35+17_-35+19delinsGG |
indel |
not specified [RCV000611096] |
Chr19:12891219..12891221 [GRCh38] Chr19:13002033..13002035 [GRCh37] Chr19:19p13.13 |
likely benign |
GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 |
copy number gain |
See cases [RCV000054144] |
Chr19:12813597..13119698 [GRCh38] Chr19:12924411..13230512 [GRCh37] Chr19:12785411..13091512 [NCBI36] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.-67dup |
duplication |
Elevated circulating glutaric acid concentration [RCV000298201] |
Chr19:12891169..12891170 [GRCh38] Chr19:13001983..13001984 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.-49G>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000353123] |
Chr19:12891188 [GRCh38] Chr19:13002002 [GRCh37] Chr19:19p13.13 |
uncertain significance |
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 |
copy number loss |
See cases [RCV000053945] |
Chr19:11517825..13225287 [GRCh38] Chr19:11628640..13336101 [GRCh37] Chr19:11489640..13197101 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
NM_000159.4(GCDH):c.-35G>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001124037]|not specified [RCV000443628] |
Chr19:12891202 [GRCh38] Chr19:13002016 [GRCh37] Chr19:19p13.13 |
likely benign|uncertain significance |
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 |
copy number gain |
See cases [RCV000052908] |
Chr19:8831147..13331227 [GRCh38] Chr19:8941823..13442041 [GRCh37] Chr19:8802823..13303041 [NCBI36] Chr19:19p13.2-13.13 |
likely pathogenic |
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 |
copy number gain |
See cases [RCV000052909] |
Chr19:10315258..14048994 [GRCh38] Chr19:10425934..14159806 [GRCh37] Chr19:10286934..14020806 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 |
copy number loss |
See cases [RCV000136909] |
Chr19:11525163..14155021 [GRCh38] Chr19:11635978..14265833 [GRCh37] Chr19:11496978..14126833 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
NM_000159.4(GCDH):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000666241] |
Chr19:12891307 [GRCh38] Chr19:13002121 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000668267] |
Chr19:12891305 [GRCh38] Chr19:13002119 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.-50C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001124036] |
Chr19:12891187 [GRCh38] Chr19:13002001 [GRCh37] Chr19:19p13.13 |
uncertain significance |
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 |
copy number loss |
See cases [RCV000135937] |
Chr19:12580427..14742673 [GRCh38] Chr19:12691241..14853485 [GRCh37] Chr19:12552241..14714485 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic|likely pathogenic |
NM_000159.4(GCDH):c.-35+19C>T |
single nucleotide variant |
not provided [RCV000839909] |
Chr19:12891221 [GRCh38] Chr19:13002035 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.54C>T (p.His18=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000872580]|Inborn genetic diseases [RCV003169181] |
Chr19:12891358 [GRCh38] Chr19:13002172 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.-69T>C |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001122970] |
Chr19:12891168 [GRCh38] Chr19:13001982 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.-34-11C>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001124038]|not provided [RCV002473201] |
Chr19:12891260 [GRCh38] Chr19:13002074 [GRCh37] Chr19:19p13.13 |
uncertain significance |
GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3 |
copy number gain |
See cases [RCV000052910] |
Chr19:12132052..14751798 [GRCh38] Chr19:12242867..14862610 [GRCh37] Chr19:12103867..14723610 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 |
copy number gain |
See cases [RCV000133888] |
Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
NM_000159.4(GCDH):c.73TCG[1] (p.Ser26del) |
microsatellite |
Glutaric aciduria, type 1 [RCV000666490] |
Chr19:12891377..12891379 [GRCh38] Chr19:13002191..13002193 [GRCh37] Chr19:19p13.13 |
uncertain significance |
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 |
copy number loss |
See cases [RCV000141568] |
Chr19:10319474..13777860 [GRCh38] Chr19:10430150..13888674 [GRCh37] Chr19:10291150..13749674 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
NM_000159.4(GCDH):c.42A>T (p.Gly14=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001414623] |
Chr19:12891346 [GRCh38] Chr19:13002160 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.29T>C (p.Leu10Pro) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001278556] |
Chr19:12891333 [GRCh38] Chr19:13002147 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.51G>T (p.Leu17=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001427878] |
Chr19:12891355 [GRCh38] Chr19:13002169 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.6C>T (p.Ala2=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001431297] |
Chr19:12891310 [GRCh38] Chr19:13002124 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.8dup (p.Arg4fs) |
duplication |
Glutaric aciduria, type 1 [RCV001382112] |
Chr19:12891311..12891312 [GRCh38] Chr19:13002125..13002126 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_000159.4(GCDH):c.15C>A (p.Gly5=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001464180]|not specified [RCV001797841] |
Chr19:12891319 [GRCh38] Chr19:13002133 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.-35+17A>G |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001527144]|not provided [RCV001673109] |
Chr19:12891219 [GRCh38] Chr19:13002033 [GRCh37] Chr19:19p13.13 |
benign |
NM_000159.4(GCDH):c.48C>G (p.Gly16=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001435228] |
Chr19:12891352 [GRCh38] Chr19:13002166 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.45C>T (p.Pro15=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001450339] |
Chr19:12891349 [GRCh38] Chr19:13002163 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.51G>A (p.Leu17=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001419178] |
Chr19:12891355 [GRCh38] Chr19:13002169 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.57C>A (p.Val19=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002097513] |
Chr19:12891361 [GRCh38] Chr19:13002175 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.49C>T (p.Leu17=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002178075] |
Chr19:12891353 [GRCh38] Chr19:13002167 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001832767]|not provided [RCV001563484] |
Chr19:12891851 [GRCh38] Chr19:13002665 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic |
NM_000159.4(GCDH):c.127+48T>C |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001527145]|not provided [RCV001651110]|not specified [RCV000252203] |
Chr19:12891570 [GRCh38] Chr19:13002384 [GRCh37] Chr19:19p13.13 |
benign |
NM_000159.4(GCDH):c.91+46G>T |
single nucleotide variant |
not provided [RCV001556685] |
Chr19:12891441 [GRCh38] Chr19:13002255 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.222C>A (p.Tyr74Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001956566] |
Chr19:12891925 [GRCh38] Chr19:13002739 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_000159.4(GCDH):c.218C>T (p.Thr73Ile) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001124039] |
Chr19:12891921 [GRCh38] Chr19:13002735 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.232A>G (p.Arg78Gly) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002605574] |
Chr19:12891935 [GRCh38] Chr19:13002749 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.102G>A (p.Gly34=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000939363]|Inborn genetic diseases [RCV002382147] |
Chr19:12891497 [GRCh38] Chr19:13002311 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.215G>A (p.Arg72His) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002005181] |
Chr19:12891918 [GRCh38] Chr19:13002732 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.109_110del (p.Gln37fs) |
microsatellite |
Glutaric aciduria, type 1 [RCV001231330] |
Chr19:12891501..12891502 [GRCh38] Chr19:13002315..13002316 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_000159.4(GCDH):c.110A>G (p.Gln37Arg) |
single nucleotide variant |
not provided [RCV001763944] |
Chr19:12891505 [GRCh38] Chr19:13002319 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.78G>C (p.Ser26=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002166547] |
Chr19:12891382 [GRCh38] Chr19:13002196 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.79del (p.Ala27fs) |
deletion |
Glutaric aciduria, type 1 [RCV000409365] |
Chr19:12891382 [GRCh38] Chr19:13002196 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic |
NM_000159.4(GCDH):c.219del (p.Tyr74fs) |
deletion |
Glutaric aciduria, type 1 [RCV000409366] |
Chr19:12891921 [GRCh38] Chr19:13002735 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic |
NM_000159.4(GCDH):c.193A>C (p.Ile65Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001873063] |
Chr19:12891896 [GRCh38] Chr19:13002710 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.80_81del (p.Ala27fs) |
deletion |
Glutaric aciduria, type 1 [RCV000410524] |
Chr19:12891383..12891384 [GRCh38] Chr19:13002197..13002198 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.124A>T (p.Lys42Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001264318] |
Chr19:12891519 [GRCh38] Chr19:13002333 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001264319] |
Chr19:12891852 [GRCh38] Chr19:13002666 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic |
NM_000159.4(GCDH):c.150G>C (p.Trp50Cys) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001066989] |
Chr19:12891853 [GRCh38] Chr19:13002667 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_000159.4(GCDH):c.150G>A (p.Trp50Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001806292] |
Chr19:12891853 [GRCh38] Chr19:13002667 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_000159.4(GCDH):c.209C>A (p.Thr70Asn) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000941197]|not provided [RCV003233885] |
Chr19:12891912 [GRCh38] Chr19:13002726 [GRCh37] Chr19:19p13.13 |
likely benign|uncertain significance |
NM_000159.4(GCDH):c.224G>C (p.Cys75Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002428451] |
Chr19:12891927 [GRCh38] Chr19:13002741 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.127+1G>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001212983]|not provided [RCV002245875] |
Chr19:12891523 [GRCh38] Chr19:13002337 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic |
NM_000159.4(GCDH):c.204G>A (p.Arg68=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002598316] |
Chr19:12891907 [GRCh38] Chr19:13002721 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.128-79G>T |
single nucleotide variant |
not provided [RCV001647962] |
Chr19:12891752 [GRCh38] Chr19:13002566 [GRCh37] Chr19:19p13.13 |
benign |
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001245375] |
Chr19:12891860 [GRCh38] Chr19:13002674 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic|uncertain significance |
NM_000159.4(GCDH):c.198del (p.Ile67fs) |
deletion |
Glutaric aciduria, type 1 [RCV000409879]|not provided [RCV001572317] |
Chr19:12891901 [GRCh38] Chr19:13002715 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic |
NM_000159.4(GCDH):c.207C>T (p.Asp69=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002212306] |
Chr19:12891910 [GRCh38] Chr19:13002724 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.123T>C (p.Ala41=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002155328] |
Chr19:12891518 [GRCh38] Chr19:13002332 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000665639] |
Chr19:12891895 [GRCh38] Chr19:13002709 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic |
NM_000159.4(GCDH):c.92-8G>C |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002194244] |
Chr19:12891479 [GRCh38] Chr19:13002293 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.108A>G (p.Thr36=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002810409] |
Chr19:12891503 [GRCh38] Chr19:13002317 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.123T>A (p.Ala41=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002620348] |
Chr19:12891518 [GRCh38] Chr19:13002332 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.127+8C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000922031]|not specified [RCV000610268] |
Chr19:12891530 [GRCh38] Chr19:13002344 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.87G>A (p.Gln29=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000224706] |
Chr19:12891391 [GRCh38] Chr19:13002205 [GRCh37] Chr19:19p13.13 |
benign |
NM_000159.4(GCDH):c.229G>T (p.Glu77Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001264320] |
Chr19:12891932 [GRCh38] Chr19:13002746 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.133C>A (p.Arg45Ser) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001042221] |
Chr19:12891836 [GRCh38] Chr19:13002650 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.127+16C>G |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002173042] |
Chr19:12891538 [GRCh38] Chr19:13002352 [GRCh37] Chr19:19p13.13 |
benign |
NM_000159.4(GCDH):c.231G>A (p.Glu77=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002150251] |
Chr19:12891934 [GRCh38] Chr19:13002748 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.91+5G>T |
single nucleotide variant |
BLOOD GROUP--LUTHERAN INHIBITOR [RCV002482815]|Glutaric aciduria, type 1 [RCV000002168] |
Chr19:12891400 [GRCh38] Chr19:13002214 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_000159.4(GCDH):c.120G>A (p.Leu40=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002137263] |
Chr19:12891515 [GRCh38] Chr19:13002329 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.114C>A (p.Ser38Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003289492]|not provided [RCV002273363] |
Chr19:12891509 [GRCh38] Chr19:13002323 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.116A>C (p.Gln39Pro) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000810467] |
Chr19:12891511 [GRCh38] Chr19:13002325 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.92-10G>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002140365] |
Chr19:12891477 [GRCh38] Chr19:13002291 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.84G>T (p.Ala28=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002820862] |
Chr19:12891388 [GRCh38] Chr19:13002202 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000410967]|not provided [RCV000760423] |
Chr19:12891929 [GRCh38] Chr19:13002743 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic |
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000412281] |
Chr19:12891875 [GRCh38] Chr19:13002689 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic |
NM_000159.4(GCDH):c.92-14T>C |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002106631] |
Chr19:12891473 [GRCh38] Chr19:13002287 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.92-7C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001466399]|not provided [RCV001726562] |
Chr19:12891480 [GRCh38] Chr19:13002294 [GRCh37] Chr19:19p13.13 |
likely benign|uncertain significance |
NM_000159.4(GCDH):c.233G>A (p.Arg78Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003259286] |
Chr19:12891936 [GRCh38] Chr19:13002750 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.196C>T (p.Leu66Phe) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001908375] |
Chr19:12891899 [GRCh38] Chr19:13002713 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.138C>T (p.Pro46=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002183301] |
Chr19:12891841 [GRCh38] Chr19:13002655 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.227A>C (p.Gln76Pro) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000668423] |
Chr19:12891930 [GRCh38] Chr19:13002744 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.49C>G (p.Leu17Val) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002948207] |
Chr19:12891353 [GRCh38] Chr19:13002167 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.81G>T (p.Ala27=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002221020] |
Chr19:12891385 [GRCh38] Chr19:13002199 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.7C>T (p.Leu3=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002885383] |
Chr19:12891311 [GRCh38] Chr19:13002125 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.74C>T (p.Ser25Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002744751] |
Chr19:12891378 [GRCh38] Chr19:13002192 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.63C>T (p.Arg21=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002602559] |
Chr19:12891367 [GRCh38] Chr19:13002181 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.91+5G>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000802276] |
Chr19:12891400 [GRCh38] Chr19:13002214 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000159.4(GCDH):c.189T>C (p.Asp63=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002847466] |
Chr19:12891892 [GRCh38] Chr19:13002706 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.158C>T (p.Pro53Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002872645] |
Chr19:12891861 [GRCh38] Chr19:13002675 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.91G>T (p.Glu31Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001382602] |
Chr19:12891395 [GRCh38] Chr19:13002209 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_000159.4(GCDH):c.127+18C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002835030] |
Chr19:12891540 [GRCh38] Chr19:13002354 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001376891] |
Chr19:12891906 [GRCh38] Chr19:13002720 [GRCh37] Chr19:19p13.13 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000159.4(GCDH):c.204G>C (p.Arg68Ser) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002847202] |
Chr19:12891907 [GRCh38] Chr19:13002721 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.91+8T>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003032550] |
Chr19:12891403 [GRCh38] Chr19:13002217 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.117A>G (p.Gln39=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001419514] |
Chr19:12891512 [GRCh38] Chr19:13002326 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.128-5C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV002909935] |
Chr19:12891826 [GRCh38] Chr19:13002640 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.84G>A (p.Ala28=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001445022] |
Chr19:12891388 [GRCh38] Chr19:13002202 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.78G>A (p.Ser26=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003063047] |
Chr19:12891382 [GRCh38] Chr19:13002196 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.129C>T (p.Ser43=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001486757] |
Chr19:12891832 [GRCh38] Chr19:13002646 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.127+1G>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003021570] |
Chr19:12891523 [GRCh38] Chr19:13002337 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_000159.4(GCDH):c.75G>T (p.Ser25=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001458824] |
Chr19:12891379 [GRCh38] Chr19:13002193 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.196_198del (p.Leu66del) |
deletion |
Glutaric aciduria, type 1 [RCV003145819] |
Chr19:12891897..12891899 [GRCh38] Chr19:13002711..13002713 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.127+9C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001432321] |
Chr19:12891531 [GRCh38] Chr19:13002345 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.114C>T (p.Ser38=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001459845] |
Chr19:12891509 [GRCh38] Chr19:13002323 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.80C>T (p.Ala27Val) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003110370] |
Chr19:12891384 [GRCh38] Chr19:13002198 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003324309] |
Chr19:12891851 [GRCh38] Chr19:13002665 [GRCh37] Chr19:19p13.13 |
pathogenic|likely pathogenic |
NM_000159.4(GCDH):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV003324906] |
Chr19:12891305 [GRCh38] Chr19:13002119 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_000159.4(GCDH):c.175C>T (p.Gln59Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003461685] |
Chr19:12891878 [GRCh38] Chr19:13002692 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.41_42delinsT (p.Gly14fs) |
indel |
Glutaric aciduria, type 1 [RCV003468266] |
Chr19:12891345..12891346 [GRCh38] Chr19:13002159..13002160 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.7_8del (p.Leu3fs) |
deletion |
Glutaric aciduria, type 1 [RCV003468263] |
Chr19:12891311..12891312 [GRCh38] Chr19:13002125..13002126 [GRCh37] Chr19:19p13.13 |
likely pathogenic |
NM_000159.4(GCDH):c.222C>T (p.Tyr74=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003874869] |
Chr19:12891925 [GRCh38] Chr19:13002739 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.161T>C (p.Leu54Pro) |
single nucleotide variant |
GCDH-related condition [RCV003404609] |
Chr19:12891864 [GRCh38] Chr19:13002678 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.92-18C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003876548] |
Chr19:12891469 [GRCh38] Chr19:13002283 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.127+20C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003602883] |
Chr19:12891542 [GRCh38] Chr19:13002356 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.169G>A (p.Glu57Lys) |
single nucleotide variant |
not specified [RCV003490904] |
Chr19:12891872 [GRCh38] Chr19:13002686 [GRCh37] Chr19:19p13.13 |
pathogenic|uncertain significance |
NM_000159.4(GCDH):c.120_123del (p.Ala41fs) |
deletion |
Glutaric aciduria, type 1 [RCV003602606] |
Chr19:12891513..12891516 [GRCh38] Chr19:13002327..13002330 [GRCh37] Chr19:19p13.13 |
pathogenic |
NM_000159.4(GCDH):c.91+15G>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003604560] |
Chr19:12891410 [GRCh38] Chr19:13002224 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.198C>T (p.Leu66=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003604748] |
Chr19:12891901 [GRCh38] Chr19:13002715 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.138C>G (p.Pro46=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003604818] |
Chr19:12891841 [GRCh38] Chr19:13002655 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.168G>T (p.Leu56=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003603297] |
Chr19:12891871 [GRCh38] Chr19:13002685 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.178C>T (p.Leu60=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003040089] |
Chr19:12891881 [GRCh38] Chr19:13002695 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.216C>T (p.Arg72=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001469860] |
Chr19:12891919 [GRCh38] Chr19:13002733 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.227A>G (p.Gln76Arg) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003105038] |
Chr19:12891930 [GRCh38] Chr19:13002744 [GRCh37] Chr19:19p13.13 |
uncertain significance |
NM_000159.4(GCDH):c.92-4G>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV001437048] |
Chr19:12891483 [GRCh38] Chr19:13002297 [GRCh37] Chr19:19p13.13 |
likely benign |
NM_000159.4(GCDH):c.171G>A (p.Glu57=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV003029689] |
Chr19:12891874 [GRCh38] Chr19:13002688 [GRCh37] Chr19:19p13.13 |
likely benign |