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Items: 9

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:47716957
GRCh38:
Chr1:47251285
STILPrimary autosomal recessive microcephaly 7Pathogenic
(Sep 1, 2009)
no assertion criteria provided
2.
GRCh37:
Chr1:47717017
GRCh38:
Chr1:47251345
STILPrimary autosomal recessive microcephaly 7Pathogenic
(Sep 1, 2009)
no assertion criteria provided
3.
GRCh37:
Chr1:47717238
GRCh38:
Chr1:47251566
STILPrimary autosomal recessive microcephaly 7, not specifiedGMAF:0.00100(A)
GO-ESP:0.00040(A)
Benign/Likely benign
(Jun 2, 2015)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:47726084
GRCh38:
Chr1:47260412
STILPrimary autosomal recessive microcephaly 7Benign
(Sep 1, 2009)
no assertion criteria provided
5.
GRCh37:
Chr1:47726183
GRCh38:
Chr1:47260511
STILPrimary autosomal recessive microcephaly 7Benign
(Sep 1, 2009)
no assertion criteria provided
6.
GRCh37:
Chr1:47728574
GRCh38:
Chr1:47262902
STILPrimary autosomal recessive microcephaly 7Pathogenic
(Sep 1, 2009)
no assertion criteria provided
7.
GRCh37:
Chr1:47746867
GRCh38:
Chr1:47281195
STILPrimary autosomal recessive microcephaly 7Benign
(Sep 1, 2009)
no assertion criteria provided
8.
GRCh37:
Chr1:47746868
GRCh38:
Chr1:47281196
STILPrimary autosomal recessive microcephaly 7Benign
(Sep 1, 2009)
no assertion criteria provided
9.
GRCh37:
Chr1:47767914
GRCh38:
Chr1:47302242
STILPrimary autosomal recessive microcephaly 7, not specified, Primary Microcephaly, Recessive
GO-ESP:0.59311(A)
GMAF:0.39360(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
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