| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007649, LOC130007650 +1258 more | Copy number gain | See cases | |
| | LOC124625919, LOC124625920 +1009 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | LOC130007425, LOC130007426 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129390413, LOC129390414 +133 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | LDHB-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (synonymous variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Single nucleotide variant | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | Pallister-Killian syndrome | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | Dilated cardiomyopathy 1O | |
| | | Deletion | Dilated cardiomyopathy 1O | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |