| NM_000159.4(GCDH):c.91+5G>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000002168] |
Chr19:12891400 [GRCh38]
Chr19:13002214 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.550A>G (p.Ser184Gly) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000655936] |
Chr19:12896036 [GRCh38]
Chr19:13006850 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.451C>T (p.Pro151Ser) |
single nucleotide variant |
not provided [RCV000722880] |
Chr19:12893599 [GRCh38]
Chr19:13004413 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.893C>T (p.Ala298Val) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000550415] |
Chr19:12896950 [GRCh38]
Chr19:13007764 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.829C>T (p.Leu277Phe) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000545566] |
Chr19:12896398 [GRCh38]
Chr19:13007212 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.883T>C (p.Tyr295His) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000002162]|not provided [RCV000724276] |
Chr19:12896940 [GRCh38]
Chr19:13007754 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.1262C>T (p.Ala421Val) |
single nucleotide variant |
Glutaric acidemia [RCV000294332]|Glutaric aciduria, type 1 [RCV000002163]|not provided [RCV000224804] |
Chr19:12899486 [GRCh38]
Chr19:13010300 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000002164]|not provided [RCV000153311]|not provided [RCV000790796] |
Chr19:12896934 [GRCh38]
Chr19:13007748 [GRCh37]
Chr19:19p13.13 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000159.4(GCDH):c.1247C>T (p.Thr416Ile) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000002165] |
Chr19:12899471 [GRCh38]
Chr19:13010285 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) |
single nucleotide variant |
Glutaric acidemia [RCV000333863]|Glutaric aciduria, type 1 [RCV000002166]|not provided [RCV000255833] |
Chr19:12897824 [GRCh38]
Chr19:13008638 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000002167]|not provided [RCV000224528] |
Chr19:12897713 [GRCh38]
Chr19:13008527 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.1198G>A (p.Val400Met) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000002169]|not provided [RCV000224327] |
Chr19:12897818 [GRCh38]
Chr19:13008632 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) |
single nucleotide variant |
Glutaric acidemia [RCV000358310]|Glutaric aciduria, type 1 [RCV000002170]|not provided [RCV000078256] |
Chr19:12896249 [GRCh38]
Chr19:13007063 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052908]|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 |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052909]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052909]|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(chr19:12132052-14751798)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052910]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052910]|See cases [RCV000052910] |
Chr19:12132052..14751798 [GRCh38]
Chr19:12242867..14862610 [GRCh37]
Chr19:12103867..14723610 [NCBI36]
Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052911]|See cases [RCV000052911] |
Chr19:12850595..13290954 [GRCh38]
Chr19:12961409..13401768 [GRCh37]
Chr19:12822409..13262768 [NCBI36]
Chr19:19p13.13 |
pathogenic |
| GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054144]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054144]|See cases [RCV000054144] |
Chr19:12813597..13119698 [GRCh38]
Chr19:12924411..13230512 [GRCh37]
Chr19:12785411..13091512 [NCBI36]
Chr19:19p13.13 |
uncertain significance |
| GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] |
Chr19:11227942..14532135 [GRCh38]
Chr19:11338618..14642947 [GRCh37]
Chr19:11199618..14503947 [NCBI36]
Chr19:19p13.2-13.12 |
pathogenic |
| GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 |
copy number loss |
Episodic vomiting [RCV000053945]|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.1120A>G (p.Asn374Asp) |
single nucleotide variant |
not specified [RCV000078247] |
Chr19:12897740 [GRCh38]
Chr19:13008554 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000812634]|not specified [RCV000078248] |
Chr19:12897777 [GRCh38]
Chr19:13008591 [GRCh37]
Chr19:19p13.13 |
likely pathogenic|uncertain significance |
| NM_000159.4(GCDH):c.1167G>A (p.Leu389=) |
single nucleotide variant |
not provided [RCV000078249]|not provided [RCV000723510]|not specified [RCV000244306] |
Chr19:12897787 [GRCh38]
Chr19:13008601 [GRCh37]
Chr19:19p13.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000159.4(GCDH):c.1173G>T (p.Gly391=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000078250]|Glutaric acidemia [RCV000269249]|Glutaric aciduria, type 1 [RCV000610293]|not provided [RCV000676739]|not specified [RCV000078250] |
Chr19:12897793 [GRCh38]
Chr19:13008607 [GRCh37]
Chr19:19p13.13 |
benign |
| NM_000159.4(GCDH):c.278A>G (p.His93Arg) |
single nucleotide variant |
not specified [RCV000078251] |
Chr19:12892122 [GRCh38]
Chr19:13002936 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.428T>C (p.Val143Ala) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000546348]|not specified [RCV000078252] |
Chr19:12893576 [GRCh38]
Chr19:13004390 [GRCh37]
Chr19:19p13.13 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000159.4(GCDH):c.517C>T (p.Leu173Phe) |
single nucleotide variant |
not specified [RCV000078253] |
Chr19:12896003 [GRCh38]
Chr19:13006817 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.542A>G (p.Glu181Gly) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000179724]|not provided [RCV000078254] |
Chr19:12896028 [GRCh38]
Chr19:13006842 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.636-1G>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000180102]|not provided [RCV000078255]|not provided [RCV000790781] |
Chr19:12896204 [GRCh38]
Chr19:13007018 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.1244-2A>C |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000174223]|not provided [RCV000521145] |
Chr19:12899466 [GRCh38]
Chr19:13010280 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.*165A>G |
single nucleotide variant |
Glutaric acidemia [RCV000281284]|Glutaric aciduria, type 1 [RCV000190518] |
Chr19:12899706 [GRCh38]
Chr19:13010520 [GRCh37]
Chr19:19p13.13 |
likely pathogenic|benign|conflicting interpretations of pathogenicity |
| NM_000159.4(GCDH):c.*288G>T |
single nucleotide variant |
Glutaric acidemia [RCV000336585]|Glutaric aciduria, type 1 [RCV000190519] |
Chr19:12899829 [GRCh38]
Chr19:13010643 [GRCh37]
Chr19:19p13.13 |
likely pathogenic|benign |
| NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000675103]|not provided [RCV000419557]|not specified [RCV000173650] |
Chr19:12897343 [GRCh38]
Chr19:13008157 [GRCh37]
Chr19:19p13.13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000159.4(GCDH):c.1011A>G (p.Ala337=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000524841]|not provided [RCV000588520]|not specified [RCV000173651] |
Chr19:12897357 [GRCh38]
Chr19:13008171 [GRCh37]
Chr19:19p13.13 |
benign|conflicting interpretations of pathogenicity |
| 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.1213A>G (p.Met405Val) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000173982]|not provided [RCV000414299] |
Chr19:12897833 [GRCh38]
Chr19:13008647 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000173983]|not provided [RCV000429838] |
Chr19:12897788 [GRCh38]
Chr19:13008602 [GRCh37]
Chr19:19p13.13 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000159.4(GCDH):c.885C>T (p.Tyr295=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000171559] |
Chr19:12896942 [GRCh38]
Chr19:13007756 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.856C>T (p.Pro286Ser) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000171557] |
Chr19:12896913 [GRCh38]
Chr19:13007727 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000171558] |
Chr19:12896244 [GRCh38]
Chr19:13007058 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| 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 |
| 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 |
| 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.1240G>A (p.Glu414Lys) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000173984]|not provided [RCV000153312]|not provided [RCV000790682] |
Chr19:12897860 [GRCh38]
Chr19:13008674 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000169118]|not provided [RCV000725818] |
Chr19:12893630 [GRCh38]
Chr19:13004444 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000169204] |
Chr19:12897767 [GRCh38]
Chr19:13008581 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000169226]|not provided [RCV000480428] |
Chr19:12896338 [GRCh38]
Chr19:13007152 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000169288]|not provided [RCV000254928] |
Chr19:12893564 [GRCh38]
Chr19:13004378 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000169320] |
Chr19:12897406 [GRCh38]
Chr19:13008220 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000169398] |
Chr19:12897825 [GRCh38]
Chr19:13008639 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.533G>A (p.Gly178Glu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000169399] |
Chr19:12896019 [GRCh38]
Chr19:13006833 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.271+1G>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000169420]|not provided [RCV000727581] |
Chr19:12891975 [GRCh38]
Chr19:13002789 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000169460] |
Chr19:12893531 [GRCh38]
Chr19:13004345 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000169467] |
Chr19:12897859 [GRCh38]
Chr19:13008673 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.262C>T (p.Arg88Cys) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000169574]|not provided [RCV000255875] |
Chr19:12891965 [GRCh38]
Chr19:13002779 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000159.4(GCDH):c.572T>C (p.Met191Thr) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000179723]|not provided [RCV000724678] |
Chr19:12896058 [GRCh38]
Chr19:13006872 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.911C>G (p.Ala304Gly) |
single nucleotide variant |
not specified [RCV000180467] |
Chr19:12896968 [GRCh38]
Chr19:13007782 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.826G>T (p.Val276Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000211677] |
Chr19:12896395 [GRCh38]
Chr19:13007209 [GRCh37]
Chr19:19p13.13 |
pathogenic|uncertain significance |
| NM_000159.4(GCDH):c.1064G>A (p.Arg355His) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000551437] |
Chr19:12897410 [GRCh38]
Chr19:13008224 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_001105578.2(SYCE2):c.612+131G>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000207373] |
Chr19:12899873 [GRCh38]
Chr19:13010687 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.795_796insCTATGATCATC (p.Met266delinsLeuTer) |
insertion |
Glutaric aciduria, type 1 [RCV000207382] |
Chr19:12896364..12896365 [GRCh38]
Chr19:13007178..13007179 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_001105578.2(SYCE2):c.612+123C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000207400] |
Chr19:12899881 [GRCh38]
Chr19:13010695 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000207408] |
Chr19:12897377 [GRCh38]
Chr19:13008191 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.852+223C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000207433]|not provided [RCV000828563] |
Chr19:12896644 [GRCh38]
Chr19:13007458 [GRCh37]
Chr19:19p13.13 |
likely pathogenic|benign |
| NM_001105578.2(SYCE2):c.612+132A>G |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000207436] |
Chr19:12899872 [GRCh38]
Chr19:13010686 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.730G>A (p.Gly244Ser) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000669231] |
Chr19:12896299 [GRCh38]
Chr19:13007113 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.272-2A>C |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000668794] |
Chr19:12892114 [GRCh38]
Chr19:13002928 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.722G>A (p.Gly241Glu) |
single nucleotide variant |
not provided [RCV000224188] |
Chr19:12896291 [GRCh38]
Chr19:13007105 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.271+3G>A |
single nucleotide variant |
not provided [RCV000224276] |
Chr19:12891977 [GRCh38]
Chr19:13002791 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.456C>G (p.Ile152Met) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000224005] |
Chr19:12893604 [GRCh38]
Chr19:13004418 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.999G>A (p.Gln333=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000224048] |
Chr19:12897345 [GRCh38]
Chr19:13008159 [GRCh37]
Chr19:19p13.13 |
benign |
| NM_000159.4(GCDH):c.431A>C (p.Gln144Pro) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000224360] |
Chr19:12893579 [GRCh38]
Chr19:13004393 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| 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.1156C>T (p.Arg386Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000778541]|not provided [RCV000224565] |
Chr19:12897776 [GRCh38]
Chr19:13008590 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.731del (p.Gly244fs) |
deletion |
Glutaric aciduria, type 1 [RCV000225074] |
Chr19:12896300 [GRCh38]
Chr19:13007114 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.394C>G (p.Arg132Gly) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000670175] |
Chr19:12893542 [GRCh38]
Chr19:13004356 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.427G>A (p.Val143Ile) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000669637] |
Chr19:12893575 [GRCh38]
Chr19:13004389 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1014C>T (p.Asp338=) |
single nucleotide variant |
not specified [RCV000604340] |
Chr19:12897360 [GRCh38]
Chr19:13008174 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.1299G>A (p.Ala433=) |
single nucleotide variant |
not specified [RCV000244004] |
Chr19:12899523 [GRCh38]
Chr19:13010337 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.505+32G>A |
single nucleotide variant |
not specified [RCV000249586] |
Chr19:12893685 [GRCh38]
Chr19:13004499 [GRCh37]
Chr19:19p13.13 |
benign |
| NM_000159.4(GCDH):c.127+48T>C |
single nucleotide variant |
not specified [RCV000252203] |
Chr19:12891570 [GRCh38]
Chr19:13002384 [GRCh37]
Chr19:19p13.13 |
benign |
| NM_000159.4(GCDH):c.471C>T (p.Ser157=) |
single nucleotide variant |
Glutaric acidemia [RCV000303555]|not provided [RCV000735103]|not specified [RCV000611449] |
Chr19:12893619 [GRCh38]
Chr19:13004433 [GRCh37]
Chr19:19p13.13 |
likely benign|uncertain significance |
| NM_000159.4(GCDH):c.957-5T>C |
single nucleotide variant |
not specified [RCV000382129] |
Chr19:12897298 [GRCh38]
Chr19:13008112 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.759G>A (p.Lys253=) |
single nucleotide variant |
Glutaric acidemia [RCV000272913] |
Chr19:12896328 [GRCh38]
Chr19:13007142 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.*70G>A |
single nucleotide variant |
Glutaric acidemia [RCV000349297] |
Chr19:12899611 [GRCh38]
Chr19:13010425 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.*101G>A |
single nucleotide variant |
Glutaric acidemia [RCV000375965]|Glutaric aciduria, type 1 [RCV000664719] |
Chr19:12899642 [GRCh38]
Chr19:13010456 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000671394]|not specified [RCV000284260] |
Chr19:12893504 [GRCh38]
Chr19:13004318 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000159.4(GCDH):c.1083-10C>T |
single nucleotide variant |
Glutaric acidemia [RCV000382523] |
Chr19:12897693 [GRCh38]
Chr19:13008507 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000672042]|not specified [RCV000327109] |
Chr19:12899485 [GRCh38]
Chr19:13010299 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000674015]|not provided [RCV000521789]|not specified [RCV000264442] |
Chr19:12897764 [GRCh38]
Chr19:13008578 [GRCh37]
Chr19:19p13.13 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000159.4(GCDH):c.-35+9G>A |
single nucleotide variant |
Glutaric acidemia [RCV000267770] |
Chr19:12891211 [GRCh38]
Chr19:13002025 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr) |
single nucleotide variant |
Glutaric acidemia [RCV000388286]|not specified [RCV000413394] |
Chr19:12897830 [GRCh38]
Chr19:13008644 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.557G>C (p.Ser186Thr) |
single nucleotide variant |
not provided [RCV000722628] |
Chr19:12896043 [GRCh38]
Chr19:13006857 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.329_332del (p.Ile110fs) |
deletion |
Glutaric aciduria, type 1 [RCV000586688] |
Chr19:12892173..12892176 [GRCh38]
Chr19:13002987..13002990 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.-49G>A |
single nucleotide variant |
Glutaric acidemia [RCV000353123] |
Chr19:12891188 [GRCh38]
Chr19:13002002 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.-67dup |
duplication |
Glutaric acidemia [RCV000298201] |
Chr19:12891170 [GRCh38]
Chr19:13001984 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.852+5G>A |
single nucleotide variant |
Glutaric acidemia [RCV000328061]|Glutaric aciduria, type 1 [RCV000665806] |
Chr19:12896426 [GRCh38]
Chr19:13007240 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000627670] |
Chr19:12896014 [GRCh38]
Chr19:13006828 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.636-3_639del |
deletion |
Glutaric aciduria, type 1 [RCV000588698] |
Chr19:12896202..12896208 [GRCh38]
Chr19:13007016..13007022 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.591C>T (p.Tyr197=) |
single nucleotide variant |
not specified [RCV000602734] |
Chr19:12896077 [GRCh38]
Chr19:13006891 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.571A>G (p.Met191Val) |
single nucleotide variant |
not provided [RCV000722537] |
Chr19:12896057 [GRCh38]
Chr19:13006871 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.79del (p.Ala27fs) |
deletion |
Glutaric aciduria, type 1 [RCV000409365] |
Chr19:12891383 [GRCh38]
Chr19:13002197 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.219del (p.Tyr74fs) |
deletion |
Glutaric aciduria, type 1 [RCV000409366] |
Chr19:12891922 [GRCh38]
Chr19:13002736 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.198del (p.Ile67fs) |
deletion |
Glutaric aciduria, type 1 [RCV000409879] |
Chr19:12891901 [GRCh38]
Chr19:13002715 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.1173del (p.Asn392fs) |
deletion |
Glutaric aciduria, type 1 [RCV000410057] |
Chr19:12897793 [GRCh38]
Chr19:13008607 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.853-2A>G |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000410275] |
Chr19:12896908 [GRCh38]
Chr19:13007722 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000411911] |
Chr19:12897789 [GRCh38]
Chr19:13008603 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000412155] |
Chr19:12893487 [GRCh38]
Chr19:13004301 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.665_668del (p.Leu221_Phe222insTer) |
deletion |
Glutaric aciduria, type 1 [RCV000410473] |
Chr19:12896234..12896237 [GRCh38]
Chr19:13007048..13007051 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.80_81del (p.Ala27fs) |
deletion |
Glutaric aciduria, type 1 [RCV000410524] |
Chr19:12891384..12891385 [GRCh38]
Chr19:13002198..13002199 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.382C>T (p.Arg128Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000409274] |
Chr19:12893530 [GRCh38]
Chr19:13004344 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000409563] |
Chr19:12896018 [GRCh38]
Chr19:13006832 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.848del (p.Leu283fs) |
deletion |
Glutaric aciduria, type 1 [RCV000410398] |
Chr19:12896417 [GRCh38]
Chr19:13007231 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| 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.743C>T (p.Pro248Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000411040] |
Chr19:12896312 [GRCh38]
Chr19:13007126 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000674290]|not provided [RCV000416219] |
Chr19:12896333 [GRCh38]
Chr19:13007147 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.268G>A (p.Glu90Lys) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000533495] |
Chr19:12891971 [GRCh38]
Chr19:13002785 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.514G>T (p.Glu172Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000412058] |
Chr19:12896000 [GRCh38]
Chr19:13006814 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.505+1_505+8del |
deletion |
Glutaric aciduria, type 1 [RCV000412140] |
Chr19:12893654..12893661 [GRCh38]
Chr19:13004468..13004475 [GRCh37]
Chr19:19p13.13 |
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 |
likely pathogenic |
| NM_000159.4(GCDH):c.873del (p.Asn291fs) |
deletion |
Glutaric aciduria, type 1 [RCV000412413] |
Chr19:12896930 [GRCh38]
Chr19:13007744 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.280C>T (p.Arg94Trp) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000539095] |
Chr19:12892124 [GRCh38]
Chr19:13002938 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000541254]|not specified [RCV000603435] |
Chr19:12897705 [GRCh38]
Chr19:13008519 [GRCh37]
Chr19:19p13.13 |
benign|likely benign |
| GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1 |
copy number loss |
See cases [RCV000449161] |
Chr19:12204632..13497073 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| GRCh37/hg19 19p13.2(chr19:13006740-13007077)x3 |
copy number gain |
See cases [RCV000447684] |
Chr19:13006740..13007077 [GRCh37]
Chr19:19p13.2 |
benign |
| GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) |
copy number gain |
See cases [RCV000446985] |
Chr19:9678768..14853426 [GRCh37]
Chr19:19p13.2-13.12 |
pathogenic |
| NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000553882]|not provided [RCV000444441] |
Chr19:12893543 [GRCh38]
Chr19:13004357 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.531C>T (p.Phe177=) |
single nucleotide variant |
not specified [RCV000438258] |
Chr19:12896017 [GRCh38]
Chr19:13006831 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.1305G>A (p.Thr435=) |
single nucleotide variant |
not specified [RCV000438510] |
Chr19:12899529 [GRCh38]
Chr19:13010343 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.1143C>T (p.Ile381=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000525178]|not provided [RCV000676738]|not specified [RCV000428617] |
Chr19:12897763 [GRCh38]
Chr19:13008577 [GRCh37]
Chr19:19p13.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| 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.937C>T (p.Arg313Trp) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000671835]|not provided [RCV000421572] |
Chr19:12896994 [GRCh38]
Chr19:13007808 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.285G>A (p.Glu95=) |
single nucleotide variant |
not specified [RCV000435806] |
Chr19:12892129 [GRCh38]
Chr19:13002943 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.1209C>T (p.His403=) |
single nucleotide variant |
not specified [RCV000422090] |
Chr19:12897829 [GRCh38]
Chr19:13008643 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.505+20G>T |
single nucleotide variant |
not specified [RCV000443111] |
Chr19:12893673 [GRCh38]
Chr19:13004487 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.335-14C>T |
single nucleotide variant |
not specified [RCV000440089] |
Chr19:12893469 [GRCh38]
Chr19:13004283 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.-35G>A |
single nucleotide variant |
not specified [RCV000443628] |
Chr19:12891202 [GRCh38]
Chr19:13002016 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly) |
single nucleotide variant |
not provided [RCV000430164] |
Chr19:12897776 [GRCh38]
Chr19:13008590 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.*206G>A |
single nucleotide variant |
not specified [RCV000436790] |
Chr19:12899747 [GRCh38]
Chr19:13010561 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.738G>A (p.Ser246=) |
single nucleotide variant |
not specified [RCV000420558] |
Chr19:12896307 [GRCh38]
Chr19:13007121 [GRCh37]
Chr19:19p13.13 |
likely benign |
| GRCh37/hg19 19p13.2(chr19:13006847-13007077)x3 |
copy number gain |
See cases [RCV000448443] |
Chr19:13006847..13007077 [GRCh37]
Chr19:19p13.2 |
benign|likely benign |
| NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000675080]|not provided [RCV000485466] |
Chr19:12892125 [GRCh38]
Chr19:13002939 [GRCh37]
Chr19:19p13.13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000159.4(GCDH):c.641C>T (p.Thr214Met) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000668340]|not provided [RCV000493776] |
Chr19:12896210 [GRCh38]
Chr19:13007024 [GRCh37]
Chr19:19p13.13 |
likely pathogenic|uncertain significance |
| NM_000159.4(GCDH):c.956+5G>A |
single nucleotide variant |
not provided [RCV000494174] |
Chr19:12897018 [GRCh38]
Chr19:13007832 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000670238]|not provided [RCV000494375] |
Chr19:12897409 [GRCh38]
Chr19:13008223 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| NM_000159.4(GCDH):c.892G>A (p.Ala298Thr) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000587206]|not provided [RCV000494627] |
Chr19:12896949 [GRCh38]
Chr19:13007763 [GRCh37]
Chr19:19p13.13 |
pathogenic|likely pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1 |
copy number loss |
See cases [RCV000511130] |
Chr19:12574343..14726197 [GRCh37]
Chr19:19p13.2-13.12 |
pathogenic |
| NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000669106] |
Chr19:12897859 [GRCh38]
Chr19:13008673 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.881G>C (p.Arg294Pro) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000495869] |
Chr19:12896938 [GRCh38]
Chr19:13007752 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 |
copy number gain |
See cases [RCV000511013] |
Chr19:11608072..14543046 [GRCh37]
Chr19:19p13.2-13.12 |
uncertain significance |
| NM_000159.4(GCDH):c.737C>T (p.Ser246Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000530261] |
Chr19:12896306 [GRCh38]
Chr19:13007120 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.1249C>G (p.His417Asp) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000634886] |
Chr19:12899473 [GRCh38]
Chr19:13010287 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000634888] |
Chr19:12893627 [GRCh38]
Chr19:13004441 [GRCh37]
Chr19:19p13.13 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000159.4(GCDH):c.397G>A (p.Val133Met) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000531618] |
Chr19:12893545 [GRCh38]
Chr19:13004359 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.636-4_639del |
deletion |
Glutaric aciduria, type 1 [RCV000587156] |
Chr19:12896201..12896208 [GRCh38]
Chr19:13007015..13007022 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.881G>T (p.Arg294Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000634890] |
Chr19:12896938 [GRCh38]
Chr19:13007752 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1197C>T (p.His399=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000634892] |
Chr19:12897817 [GRCh38]
Chr19:13008631 [GRCh37]
Chr19:19p13.13 |
benign |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| NM_000159.4(GCDH):c.712C>T (p.Leu238=) |
single nucleotide variant |
not specified [RCV000614956] |
Chr19:12896281 [GRCh38]
Chr19:13007095 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000539888] |
Chr19:12897809 [GRCh38]
Chr19:13008623 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.636-18C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000671329]|not specified [RCV000605526] |
Chr19:12896187 [GRCh38]
Chr19:13007001 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.127+8C>T |
single nucleotide variant |
not specified [RCV000610268] |
Chr19:12891530 [GRCh38]
Chr19:13002344 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.891C>T (p.Ile297=) |
single nucleotide variant |
not specified [RCV000610373] |
Chr19:12896948 [GRCh38]
Chr19:13007762 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.642G>A (p.Thr214=) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000634891]|not specified [RCV000616616] |
Chr19:12896211 [GRCh38]
Chr19:13007025 [GRCh37]
Chr19:19p13.13 |
benign|likely benign |
| 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 |
| NM_000159.4(GCDH):c.541G>C (p.Glu181Gln) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000625783] |
Chr19:12896027 [GRCh38]
Chr19:13006841 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.1188C>T (p.Asp396=) |
single nucleotide variant |
not specified [RCV000604510] |
Chr19:12897808 [GRCh38]
Chr19:13008622 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.524G>A (p.Gly175Asp) |
single nucleotide variant |
not specified [RCV000594234] |
Chr19:12896010 [GRCh38]
Chr19:13006824 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.894G>A (p.Ala298=) |
single nucleotide variant |
not specified [RCV000605628] |
Chr19:12896951 [GRCh38]
Chr19:13007765 [GRCh37]
Chr19:19p13.13 |
likely benign |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| NM_000159.4(GCDH):c.770G>A (p.Arg257Gln) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000634885]|not provided [RCV000735163] |
Chr19:12896339 [GRCh38]
Chr19:13007153 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.262C>A (p.Arg88Ser) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000634887] |
Chr19:12891965 [GRCh38]
Chr19:13002779 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.281G>T (p.Arg94Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000634889] |
Chr19:12892125 [GRCh38]
Chr19:13002939 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.386A>C (p.Glu129Ala) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000685014] |
Chr19:12893534 [GRCh38]
Chr19:13004348 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.536T>G (p.Leu179Arg) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000672204] |
Chr19:12896022 [GRCh38]
Chr19:13006836 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.798G>A (p.Met266Ile) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000672403] |
Chr19:12896367 [GRCh38]
Chr19:13007181 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1173dup (p.Asn392fs) |
duplication |
Glutaric aciduria, type 1 [RCV000671412] |
Chr19:12897793 [GRCh38]
Chr19:13008600 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.1148G>A (p.Arg383His) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000671613] |
Chr19:12897768 [GRCh38]
Chr19:13008582 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1244-15A>G |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000665025] |
Chr19:12899453 [GRCh38]
Chr19:13010267 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.873C>A (p.Asn291Lys) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000670161] |
Chr19:12896930 [GRCh38]
Chr19:13007744 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000670197] |
Chr19:12897400 [GRCh38]
Chr19:13008214 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000673919] |
Chr19:12899510 [GRCh38]
Chr19:13010324 [GRCh37]
Chr19:19p13.13 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000667870] |
Chr19:12896269 [GRCh38]
Chr19:13007083 [GRCh37]
Chr19:19p13.13 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000159.4(GCDH):c.636-26C>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000670673] |
Chr19:12896179 [GRCh38]
Chr19:13006993 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000671039] |
Chr19:12893585 [GRCh38]
Chr19:13004399 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1169G>T (p.Gly390Val) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000674107] |
Chr19:12897789 [GRCh38]
Chr19:13008603 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| 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.1244-2A>G |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000668317] |
Chr19:12899466 [GRCh38]
Chr19:13010280 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000672203] |
Chr19:12899522 [GRCh38]
Chr19:13010336 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| 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 |
likely pathogenic |
| NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) |
single nucleotide variant |
Glutaricaciduria, type I [RCV000790376] |
Chr19:12893516 [GRCh38]
Chr19:13004330 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.337T>C (p.Tyr113His) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000673679] |
Chr19:12893485 [GRCh38]
Chr19:13004299 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.*201A>C |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000670005] |
Chr19:12899742 [GRCh38]
Chr19:13010556 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.334G>T (p.Gly112Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000670206] |
Chr19:12892178 [GRCh38]
Chr19:13002992 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.910G>A (p.Ala304Thr) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000670621] |
Chr19:12896967 [GRCh38]
Chr19:13007781 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000667393] |
Chr19:12897840 [GRCh38]
Chr19:13008654 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.636-24C>G |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000670653] |
Chr19:12896181 [GRCh38]
Chr19:13006995 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.1015A>G (p.Met339Val) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000671046] |
Chr19:12897361 [GRCh38]
Chr19:13008175 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.397G>T (p.Val133Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000671234] |
Chr19:12893545 [GRCh38]
Chr19:13004359 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000673771] |
Chr19:12897735 [GRCh38]
Chr19:13008549 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.380_391del (p.Ala127_Leu130del) |
deletion |
Glutaric aciduria, type 1 [RCV000667552] |
Chr19:12893528..12893539 [GRCh38]
Chr19:13004337..13004349 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.636-38G>A |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000671476] |
Chr19:12896167 [GRCh38]
Chr19:13006981 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.365C>T (p.Ala122Val) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000674191] |
Chr19:12893513 [GRCh38]
Chr19:13004327 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.636-2dup |
duplication |
Glutaric aciduria, type 1 [RCV000667834] |
Chr19:12896203 [GRCh38]
Chr19:13007016 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1082+1G>T |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000672676] |
Chr19:12897429 [GRCh38]
Chr19:13008243 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000672866] |
Chr19:12899541 [GRCh38]
Chr19:13010355 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.416C>G (p.Ser139Trp) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000665802] |
Chr19:12893564 [GRCh38]
Chr19:13004378 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1315T>C (p.Ter439Arg) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000664645] |
Chr19:12899539 [GRCh38]
Chr19:13010353 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| 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_001105578.2(SYCE2):c.612+280_612+282del |
microsatellite |
Glutaric aciduria, type 1 [RCV000668766] |
Chr19:12899726..12899728 [GRCh38]
Chr19:13010535..13010538 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.301G>A (p.Gly101Arg) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000665561] |
Chr19:12892145 [GRCh38]
Chr19:13002959 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.727_730dup (p.Gly244fs) |
duplication |
Glutaric aciduria, type 1 [RCV000674219] |
Chr19:12896296..12896299 [GRCh38]
Chr19:13007108 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.997C>T (p.Gln333Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000672731] |
Chr19:12897343 [GRCh38]
Chr19:13008157 [GRCh37]
Chr19:19p13.13 |
likely 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.646_649dup (p.Pro217fs) |
duplication |
Glutaric aciduria, type 1 [RCV000665541] |
Chr19:12896215..12896218 [GRCh38]
Chr19:13007027 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.396G>T (p.Arg132=) |
single nucleotide variant |
not provided [RCV000676737] |
Chr19:12893544 [GRCh38]
Chr19:13004358 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.73_75TCG[1] (p.Ser26del) |
microsatellite |
Glutaric aciduria, type 1 [RCV000666490] |
Chr19:12891380..12891382 [GRCh38]
Chr19:13002190..13002193 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.640A>G (p.Thr214Ala) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000666652] |
Chr19:12896209 [GRCh38]
Chr19:13007023 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000700254] |
Chr19:12897744 [GRCh38]
Chr19:13008558 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.751C>T (p.Gln251Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000700730] |
Chr19:12896320 [GRCh38]
Chr19:13007134 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.914C>T (p.Ser305Leu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000705476] |
Chr19:12896971 [GRCh38]
Chr19:13007785 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.797T>C (p.Met266Thr) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000697955] |
Chr19:12896366 [GRCh38]
Chr19:13007180 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000696441] |
Chr19:12897738 [GRCh38]
Chr19:13008552 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43 |
pathogenic |
| NM_000159.4(GCDH):c.296A>G (p.Glu99Gly) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000767351] |
Chr19:12892140 [GRCh38]
Chr19:13002954 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.701G>C (p.Arg234Pro) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000767352] |
Chr19:12896270 [GRCh38]
Chr19:13007084 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.1114A>G (p.Arg372Gly) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000767353] |
Chr19:12897734 [GRCh38]
Chr19:13008548 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.1240G>T (p.Glu414Ter) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000767354] |
Chr19:12897860 [GRCh38]
Chr19:13008674 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.1167_1168insT (p.Gly390fs) |
insertion |
Glutaric aciduria, type 1 [RCV000767355] |
Chr19:12897787..12897788 [GRCh38]
Chr19:13008601..13008602 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000796665] |
Chr19:12896401 [GRCh38]
Chr19:13007215 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.1083-106T>C |
single nucleotide variant |
not provided [RCV000835740] |
Chr19:12897597 [GRCh38]
Chr19:13008411 [GRCh37]
Chr19:19p13.13 |
benign |
| 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.1298C>A (p.Ala433Glu) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000817710] |
Chr19:12899522 [GRCh38]
Chr19:13010336 [GRCh37]
Chr19:19p13.13 |
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.566G>C (p.Ser189Thr) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000785884] |
Chr19:12896052 [GRCh38]
Chr19:13006866 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.242C>G (p.Pro81Arg) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000795220] |
Chr19:12891945 [GRCh38]
Chr19:13002759 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.748A>T (p.Ile250Phe) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000815247] |
Chr19:12896317 [GRCh38]
Chr19:13007131 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1182T>G (p.Ile394Met) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000816822] |
Chr19:12897802 [GRCh38]
Chr19:13008616 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| 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 |
likely pathogenic |
| NM_000159.4(GCDH):c.782C>T (p.Thr261Ile) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000803410] |
Chr19:12896351 [GRCh38]
Chr19:13007165 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1018C>T (p.Leu340Phe) |
single nucleotide variant |
Glutaricaciduria, type I [RCV000790377] |
Chr19:12897364 [GRCh38]
Chr19:13008178 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.1098G>A (p.Met366Ile) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000812974] |
Chr19:12897718 [GRCh38]
Chr19:13008532 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
| NM_000159.4(GCDH):c.853-155G>A |
single nucleotide variant |
not provided [RCV000832432] |
Chr19:12896755 [GRCh38]
Chr19:13007569 [GRCh37]
Chr19:19p13.13 |
likely benign |
| NM_000159.4(GCDH):c.553G>A (p.Gly185Arg) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000818955] |
Chr19:12896039 [GRCh38]
Chr19:13006853 [GRCh37]
Chr19:19p13.13 |
pathogenic |
| NM_000159.4(GCDH):c.679C>T (p.Arg227Trp) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000815377] |
Chr19:12896248 [GRCh38]
Chr19:13007062 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NC_000019.10:g.12896644C>T |
single nucleotide variant |
not provided [RCV000828563] |
Chr19:13007458 [GRCh37]
Chr19:19p13.2 |
benign |
| GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1 |
copy number loss |
not provided [RCV000846538] |
Chr19:12354642..13424014 [GRCh37]
Chr19:19p13.2 |
pathogenic |
| NM_000159.4(GCDH):c.674G>C (p.Trp225Ser) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000785883] |
Chr19:12896243 [GRCh38]
Chr19:13007057 [GRCh37]
Chr19:19p13.13 |
likely pathogenic |
| NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) |
single nucleotide variant |
Glutaric aciduria, type 1 [RCV000824091] |
Chr19:12895996 [GRCh38]
Chr19:13006810 [GRCh37]
Chr19:19p13.13 |
uncertain significance |
Gene-Chemical Interaction Annotations
