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Items: 5

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:154164401
GRCh38:
Chr1:154191925
TPM3Nemaline myopathy 1, not providedPathogenic
(Sep 18, 2014)
no assertion criteria provided
2.
GRCh37:
Chr1:154164469
GRCh38:
Chr1:154191993
TPM3Nemaline myopathy 1, not providedPathogenic
(Mar 15, 2012)
no assertion criteria provided
3.
GRCh37:
Chr2:152502272-152504773
GRCh38:
Chr2:151645758-151648259
NEBNemaline myopathy 2Pathogenic
(Mar 15, 2012)
no assertion criteria provided
4.
GRCh37:
Chr14:35182668
GRCh38:
Chr14:34713462
CFL2Nemaline myopathy 7Pathogenic
(Mar 15, 2012)
no assertion criteria provided
5.
GRCh37:
Chr19:55648544
GRCh38:
Chr19:55137176
TNNT1Nemaline myopathy 5, not providedPathogenic
(Mar 15, 2012)
no assertion criteria provided
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