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Items: 22

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr9:34646583-34646586
GRCh38:
Chr9:34646586-34646589
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Classical galactosemia, homozygous Duarte-type, not provided
Conflicting interpretations of pathogenicity
(Nov 12, 2014)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr9:34646783
GRCh38:
Chr9:34646786
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferasePathogenic/Likely pathogenic
(Dec 4, 2012)
criteria provided, single submitter
3.
GRCh37:
Chr9:34647206
GRCh38:
Chr9:34647209
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not providedLikely pathogenic
(Oct 10, 2014)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr9:34647802
GRCh38:
Chr9:34647805
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseGO-ESP:0.04590(C)
GMAF:0.04150(C)
Benign
(Dec 4, 2012)
criteria provided, single submitter
5.
GRCh37:
Chr9:34647836
GRCh38:
Chr9:34647839
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr9:34647855
GRCh38:
Chr9:34647858
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not providedGO-ESP:0.00085(T)
GMAF:0.00120(T)
Pathogenic
(May 26, 2015)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr9:34647949
GRCh38:
Chr9:34647952
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseLikely benign
(Aug 18, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr9:34648088
GRCh38:
Chr9:34648091
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseGO-ESP:0.04583(A)
GMAF:0.04150(A)
Benign
(Dec 4, 2012)
criteria provided, single submitter
9.
GRCh37:
Chr9:34648095
GRCh38:
Chr9:34648098
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseGO-ESP:0.01399(A)
GMAF:0.01280(A)
Benign
(Aug 18, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr9:34648167
GRCh38:
Chr9:34648170
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not providedGO-ESP:0.00208(G)
GMAF:0.00060(G)
Pathogenic
(Nov 26, 2014)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr9:34648350
GRCh38:
Chr9:34648353
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferasePathogenic
(Aug 23, 2014)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr9:34648376
GRCh38:
Chr9:34648379
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferasePathogenic/Likely pathogenic
(Sep 3, 2014)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr9:34648392
GRCh38:
Chr9:34648395
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not providedPathogenic
(Apr 3, 2014)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr9:34648418
GRCh38:
Chr9:34648421
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not providedGO-ESP:0.02560(T)
GMAF:0.03100(T)
Benign
(Dec 4, 2012)
criteria provided, single submitter
15.
GRCh37:
Chr9:34648454
GRCh38:
Chr9:34648457
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr9:34649029
GRCh38:
Chr9:34649032
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseGO-ESP:0.00038(T)
GMAF:0.00020(T)
Pathogenic
(Sep 5, 2014)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr9:34649050
GRCh38:
Chr9:34649053
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not specifiedGO-ESP:0.03006(A)
GMAF:0.03000(A)
Benign
(Jun 4, 2015)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr9:34649442
GRCh38:
Chr9:34649445
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, GALT POLYMORPHISM (DUARTE, D2), not provided
GO-ESP:0.07151(G)
GMAF:0.07290(G)
Conflicting interpretations of pathogenicity, not provided
(Nov 12, 2014)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr9:34649447
GRCh38:
Chr9:34649450
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not specifiedGO-ESP:0.03514(C)
GMAF:0.03510(C)
Benign/Likely benign
(Jun 4, 2015)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr9:34649449
GRCh38:
Chr9:34649452
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferasePathogenic/Likely pathogenic
(May 22, 2014)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr9:34649499
GRCh38:
Chr9:34649502
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseGO-ESP:0.00008(T)Pathogenic/Likely pathogenic
(Jul 8, 2014)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr9:34649532
GRCh38:
Chr9:34649535
GALTDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferaseGO-ESP:0.00008(A)Pathogenic/Likely pathogenic
(Aug 2, 2013)
criteria provided, multiple submitters, no conflicts
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