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Links from MedGen

Items: 3

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:75147480
GRCh38:
Chr16:75113582
LDHDR370W, R347WLactic aciduria due to D-lactic acidPathogenic
(May 12, 2020)
no assertion criteria provided
2.
GRCh37:
Chr16:75146390
GRCh38:
Chr16:75112492
LDHDT463M, T440MLactic aciduria due to D-lactic acidLikely pathogenic
(Aug 9, 2019)
criteria provided, single submitter
3.
GRCh37:
Chr16:75147466
GRCh38:
Chr16:75113568
LDHDW374C, W351CLactic aciduria due to D-lactic acidLikely pathogenic
(Aug 9, 2019)
criteria provided, single submitter
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