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Results: 16

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:26727674
GRCh38:
Chr17:28400658
SARM1, SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
2.
GRCh37:
Chr17:26729294
GRCh38:
Chr17:28402276
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
3.
GRCh37:
Chr17:26729295
GRCh38:
Chr17:28402277
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Jun 15, 2015)
no assertion criteria provided
4.
GRCh37:
Chr17:26729340
GRCh38:
Chr17:28402322
SLC46A1Congenital defect of folate absorptionPathogenic
(Dec 8, 2011)
no assertion criteria provided
5.
GRCh37:
Chr17:26731703
GRCh38:
Chr17:28404685
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
6.
GRCh37:
Chr17:26731711
GRCh38:
Chr17:28404693
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Sep 12, 2013)
no assertion criteria provided
7.
GRCh37:
Chr17:26731761
GRCh38:
Chr17:28404743
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
8.
GRCh37:
Chr17:26732249
GRCh38:
Chr17:28405231
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
9.
GRCh37:
Chr17:26732276
GRCh38:
Chr17:28405258
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
10.
GRCh37:
Chr17:26732378
GRCh38:
Chr17:28405360
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
11.
GRCh37:
Chr17:26732378
GRCh38:
Chr17:28405360
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
12.
GRCh37:
Chr17:26732928-26732929
GRCh38:
Chr17:28405910-28405911
SLC46A1Congenital defect of folate absorptionPathogenic
(Jun 15, 2015)
no assertion criteria provided
13.
GRCh37:
Chr17:26732935-26732936
GRCh38:
Chr17:28405917-28405918
SLC46A1Congenital defect of folate absorptionPathogenic
(Dec 8, 2011)
no assertion criteria provided
14.
GRCh37:
Chr17:26732939
GRCh38:
Chr17:28405921
SLC46A1Congenital defect of folate absorptionPathogenic
(Dec 8, 2011)
no assertion criteria provided
15.
GRCh37:
Chr17:26732939
GRCh38:
Chr17:28405921
SLC46A1Congenital defect of folate absorptionPathogenic
(Sep 12, 2013)
no assertion criteria provided
16.
GRCh37:
Chr17:26733110
GRCh38:
Chr17:28406092
SLC46A1Congenital defect of folate absorptionPathogenic
(Dec 8, 2011)
no assertion criteria provided

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