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Items: 5

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:34649442
GRCh38:
Chr9:34649445
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, GALT POLYMORPHISM (DUARTE, D2), not specified,
Galactosemia, not provided
GO-ESP:0.07151(G)
GMAF:0.07290(G)
GO-ESP:0.09201(G)
Conflicting interpretations of pathogenicity, other
(Jun 17, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr9:34647187
GRCh38:
Chr9:34647190
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, GALT POLYMORPHISMBenign
(Dec 4, 2012)
no assertion criteria provided
3.
GRCh37:
Chr9:34647133
GRCh38:
Chr9:34647136
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferasePathogenic
(Dec 4, 2012)
no assertion criteria provided
4.
GRCh37:
Chr9:34649499
GRCh38:
Chr9:34649502
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseGO-ESP:0.00008(T)
GO-ESP:0.00004(T)
Pathogenic/Likely pathogenic
(Sep 2, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr9:34647876
GRCh38:
Chr9:34647879
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not providedGO-ESP:0.00004(A)Pathogenic
(Mar 10, 2015)
criteria provided, multiple submitters, no conflicts
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