| 155941208 | CV2142952 | single nucleotide variant | NM_001724.5(BPGM):c.186G>A (p.Arg62=) | not provided [RCV002994066] | likely benign | 7 | 134661693 | 134661693 | Human | | name |
| 8562899 | CV27131 | deletion | NM_001724.5(BPGM):c.61del (p.Arg21fs) | Deficiency of bisphosphoglycerate mutase [RCV000012873] | pathogenic | 7 | 134661567 | 134661567 | Human | 1 | name , alternate_id |
| 152059917 | CV1648496 | single nucleotide variant | NM_001724.5(BPGM):c.369G>A (p.Pro123=) | not provided [RCV002090128] | likely benign | 7 | 134661876 | 134661876 | Human | | name |
| 156357536 | CV1891218 | single nucleotide variant | NM_001724.5(BPGM):c.546C>T (p.Thr182=) | not provided [RCV003091461] | likely benign | 7 | 134662053 | 134662053 | Human | | name |
| 156409101 | CV1922183 | single nucleotide variant | NM_001724.5(BPGM):c.435C>T (p.Cys145=) | not provided [RCV002607455] | likely benign | 7 | 134661942 | 134661942 | Human | | name |
| 402479588 | CV2910771 | single nucleotide variant | NM_001724.5(BPGM):c.486G>A (p.Leu162=) | not provided [RCV003571927] | likely benign | 7 | 134661993 | 134661993 | Human | | name |
| 405195247 | CV3081398 | single nucleotide variant | NM_001724.5(BPGM):c.62G>A (p.Arg21His) | Deficiency of bisphosphoglycerate mutase [RCV003641374] | uncertain significance | 7 | 134661569 | 134661569 | Human | 1 | name , alternate_id |
| 404980676 | CV3120984 | single nucleotide variant | NM_001724.5(BPGM):c.639T>C (p.Pro213=) | not provided [RCV003825976] | likely benign | 7 | 134678890 | 134678890 | Human | | name |
| 597774080 | CV3643305 | single nucleotide variant | NM_001724.5(BPGM):c.29G>C (p.Arg10Thr) | not specified [RCV004897899] | uncertain significance | 7 | 134661536 | 134661536 | Human | | name |
| 597944716 | CV3847956 | single nucleotide variant | NM_001724.5(BPGM):c.660G>A (p.Leu220=) | not provided [RCV005188686] | likely benign | 7 | 134678911 | 134678911 | Human | | name |
| 597965084 | CV3848254 | single nucleotide variant | NM_001724.5(BPGM):c.336G>A (p.Val112=) | not provided [RCV005194134] | likely benign | 7 | 134661843 | 134661843 | Human | | name |
| 597931286 | CV3863200 | single nucleotide variant | NM_001724.5(BPGM):c.453A>G (p.Gln151=) | not provided [RCV005206726] | likely benign | 7 | 134661960 | 134661960 | Human | | name |
| 126729879 | CV985975 | duplication | NM_001724.5(BPGM):c.258dup (p.Leu87fs) | Deficiency of bisphosphoglycerate mutase [RCV001293963] | pathogenic | 7 | 134661764 | 134661765 | Human | | name , alternate_id |
| 151776815 | CV1365712 | single nucleotide variant | NM_001724.5(BPGM):c.182A>C (p.Asn61Thr) | not provided [RCV001915509] | uncertain significance | 7 | 134661689 | 134661689 | Human | | name |
| 156132041 | CV2372969 | single nucleotide variant | NM_001724.5(BPGM):c.289G>C (p.Gly97Arg) | not specified [RCV004224006] | uncertain significance | 7 | 134661796 | 134661796 | Human | | name |
| 8562898 | CV27130 | single nucleotide variant | NM_001724.5(BPGM):c.268C>T (p.Arg90Cys) | Deficiency of bisphosphoglycerate mutase [RCV000012872]|not provided [RCV003556005] | pathogenic | 7 | 134661775 | 134661775 | Human | 1 | name , alternate_id |
| 401872563 | CV2793118 | single nucleotide variant | NM_001724.5(BPGM):c.247A>T (p.Ser83Cys) | not specified [RCV004360432] | uncertain significance | 7 | 134661754 | 134661754 | Human | | name |
| 596932347 | CV3538967 | single nucleotide variant | NM_001724.5(BPGM):c.115C>T (p.Arg39Trp) | not provided [RCV004793093] | uncertain significance | 7 | 134661622 | 134661622 | Human | | name |
| 597774068 | CV3643302 | single nucleotide variant | NM_001724.5(BPGM):c.256C>T (p.Arg86Cys) | not specified [RCV004897896] | uncertain significance | 7 | 134661763 | 134661763 | Human | | name |
| 598251041 | CV3942395 | single nucleotide variant | NM_001724.5(BPGM):c.257G>A (p.Arg86His) | not specified [RCV005298433] | uncertain significance | 7 | 134661764 | 134661764 | Human | | name |
| 38473978 | CV961561 | single nucleotide variant | NM_001724.5(BPGM):c.185G>A (p.Arg62Gln) | Deficiency of bisphosphoglycerate mutase [RCV001249567] | pathogenic | 7 | 134661692 | 134661692 | Human | 1 | name , alternate_id |
| 38473980 | CV961562 | single nucleotide variant | NM_001724.5(BPGM):c.269G>A (p.Arg90His) | Deficiency of bisphosphoglycerate mutase [RCV001249568] | pathogenic | 7 | 134661776 | 134661776 | Human | 1 | name , alternate_id |
| 156014396 | CV1912654 | single nucleotide variant | NM_001724.5(BPGM):c.526G>A (p.Glu176Lys) | not provided [RCV002619069]|not specified [RCV004068899] | uncertain significance | 7 | 134662033 | 134662033 | Human | | name |
| 156300495 | CV2069886 | single nucleotide variant | NM_001724.5(BPGM):c.313T>G (p.Leu105Val) | not provided [RCV002833596] | uncertain significance | 7 | 134661820 | 134661820 | Human | | name |
| 156088087 | CV2201961 | single nucleotide variant | NM_001724.5(BPGM):c.493C>T (p.Leu165Phe) | not specified [RCV004075890] | uncertain significance | 7 | 134662000 | 134662000 | Human | | name |
| 156055196 | CV2320517 | single nucleotide variant | NM_001724.5(BPGM):c.512A>G (p.Glu171Gly) | not specified [RCV004172148] | uncertain significance | 7 | 134662019 | 134662019 | Human | | name |
| 156071426 | CV2381386 | single nucleotide variant | NM_001724.5(BPGM):c.388C>T (p.His130Tyr) | not specified [RCV004227435] | uncertain significance | 7 | 134661895 | 134661895 | Human | | name |
| 243063612 | CV2409521 | single nucleotide variant | NM_001724.5(BPGM):c.461G>A (p.Arg154Gln) | Deficiency of bisphosphoglycerate mutase [RCV003141663] | uncertain significance | 7 | 134661968 | 134661968 | Human | 1 | name , alternate_id |
| 401889502 | CV2756638 | single nucleotide variant | NM_001724.5(BPGM):c.419G>A (p.Arg140Gln) | not specified [RCV004345157] | uncertain significance | 7 | 134661926 | 134661926 | Human | | name |
| 401896334 | CV2781055 | single nucleotide variant | NM_001724.5(BPGM):c.515G>T (p.Arg172Met) | not specified [RCV004358437] | uncertain significance | 7 | 134662022 | 134662022 | Human | | name |
| 402490496 | CV2866549 | single nucleotide variant | NM_001724.5(BPGM):c.679C>T (p.Arg227Cys) | Deficiency of bisphosphoglycerate mutase [RCV004720395]|not provided [RCV003572875] | likely benign|uncertain significance | 7 | 134678930 | 134678930 | Human | 1 | name , alternate_id |
| 405764009 | CV3301943 | single nucleotide variant | NM_001724.5(BPGM):c.453A>C (p.Gln151His) | not specified [RCV004434124] | uncertain significance | 7 | 134661960 | 134661960 | Human | | name |
| 405764017 | CV3301944 | single nucleotide variant | NM_001724.5(BPGM):c.575G>A (p.Ser192Asn) | not specified [RCV004434125] | uncertain significance | 7 | 134662082 | 134662082 | Human | | name |
| 407480015 | CV3424129 | single nucleotide variant | NM_001724.5(BPGM):c.594C>A (p.His198Gln) | not provided [RCV005102093]|not specified [RCV004602137] | uncertain significance | 7 | 134662101 | 134662101 | Human | | name |
| 407480019 | CV3424130 | single nucleotide variant | NM_001724.5(BPGM):c.680G>A (p.Arg227His) | not specified [RCV004602138] | likely benign | 7 | 134678931 | 134678931 | Human | | name |
| 407480024 | CV3424131 | single nucleotide variant | NM_001724.5(BPGM):c.461G>T (p.Arg154Leu) | not specified [RCV004602139] | uncertain significance | 7 | 134661968 | 134661968 | Human | | name |
| 597774071 | CV3643303 | single nucleotide variant | NM_001724.5(BPGM):c.488A>G (p.Glu163Gly) | not specified [RCV004897897] | uncertain significance | 7 | 134661995 | 134661995 | Human | | name |
| 597774083 | CV3643306 | single nucleotide variant | NM_001724.5(BPGM):c.415G>C (p.Asp139His) | not specified [RCV004897900] | uncertain significance | 7 | 134661922 | 134661922 | Human | | name |
| 598251035 | CV3942394 | single nucleotide variant | NM_001724.5(BPGM):c.368C>T (p.Pro123Leu) | not specified [RCV005298432] | uncertain significance | 7 | 134661875 | 134661875 | Human | | name |
| 598251048 | CV3942396 | single nucleotide variant | NM_001724.5(BPGM):c.325G>A (p.Glu109Lys) | not specified [RCV005298434] | uncertain significance | 7 | 134661832 | 134661832 | Human | | name |
