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Items: 6

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:1397443
GRCh38:
Chr19:1397444
GAMT, NDUFS7Deficiency of guanidinoacetate methyltransferase, Mitochondrial complex I deficiency, Leigh syndrome,
not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr19:1399056
GRCh38:
Chr19:1399057
GAMTDeficiency of guanidinoacetate methyltransferaseBenign
(Aug 18, 2011)
no assertion criteria provided
3.
GRCh37:
Chr19:1399148
GRCh38:
Chr19:1399149
GAMTDeficiency of guanidinoacetate methyltransferaseBenign
(Aug 18, 2011)
no assertion criteria provided
4.
GRCh37:
Chr19:1399792
GRCh38:
Chr19:1399793
GAMTDeficiency of guanidinoacetate methyltransferase, not providedPathogenic
(Mar 1, 2017)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr19:1399810-1399822
GRCh38:
Chr19:1399811-1399823
GAMTDeficiency of guanidinoacetate methyltransferasePathogenic
(Dec 10, 2015)
no assertion criteria provided
6.
GRCh37:
Chr19:1401417
GRCh38:
Chr19:1401418
GAMTDeficiency of guanidinoacetate methyltransferasePathogenic
(Aug 18, 2011)
no assertion criteria provided
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