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26 records found for search term Asmt
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
404988753CV2849654single nucleotide variantNM_001171038.2(ASMT):c.562+2T>Cnot provided [RCV003490486]conflicting interpretations of pathogenicity|uncertain significanceX16299411629941Humanname
404988753CV2849654single nucleotide variantNM_001171038.2(ASMT):c.562+2T>Cnot provided [RCV003490486]conflicting interpretations of pathogenicity|uncertain significanceY16299411629941Humanname
405277901CV3191073deletionNM_001171038.2(ASMT):c.910+8delASMT-related disorder [RCV003904714]likely benignX16365681636568Humanname , trait , alternate_id
405277901CV3191073deletionNM_001171038.2(ASMT):c.910+8delASMT-related disorder [RCV003904714]likely benignY16365681636568Humanname , trait , alternate_id
11636054CV269546single nucleotide variantNM_001171038.2(ASMT):c.87C>A (p.Cys29Ter)not provided [RCV000262182]uncertain significanceY16231561623156Humanname
11636054CV269546single nucleotide variantNM_001171038.2(ASMT):c.87C>A (p.Cys29Ter)not provided [RCV000262182]uncertain significanceX16231561623156Humanname
404988725CV2849651single nucleotide variantNM_001171038.2(ASMT):c.51C>A (p.Asn17Lys)ASMT-related disorder [RCV003901097]|not provided [RCV003490483]likely benign|uncertain significanceX16152501615250Humanname , trait , alternate_id
404988725CV2849651single nucleotide variantNM_001171038.2(ASMT):c.51C>A (p.Asn17Lys)ASMT-related disorder [RCV003901097]|not provided [RCV003490483]likely benign|uncertain significanceY16152501615250Humanname , trait , alternate_id
405277815CV3196126single nucleotide variantNM_001171038.2(ASMT):c.861C>T (p.Asp287=)ASMT-related disorder [RCV003904643]benignX16365111636511Humanname , trait , alternate_id
405277815CV3196126single nucleotide variantNM_001171038.2(ASMT):c.861C>T (p.Asp287=)ASMT-related disorder [RCV003904643]benignY16365111636511Humanname , trait , alternate_id
405288396CV3197406single nucleotide variantNM_001171038.2(ASMT):c.630C>G (p.Arg210=)ASMT-related disorder [RCV003982502]likely benignX16327711632771Humanname , trait , alternate_id
405288396CV3197406single nucleotide variantNM_001171038.2(ASMT):c.630C>G (p.Arg210=)ASMT-related disorder [RCV003982502]likely benignY16327711632771Humanname , trait , alternate_id
405257418CV3200991single nucleotide variantNM_001171038.2(ASMT):c.366C>T (p.Asp122=)ASMT-related disorder [RCV003892252]likely benignX16243901624390Humanname , trait , alternate_id
405257418CV3200991single nucleotide variantNM_001171038.2(ASMT):c.366C>T (p.Asp122=)ASMT-related disorder [RCV003892252]likely benignY16243901624390Humanname , trait , alternate_id
14349874CV590814single nucleotide variantNM_001171038.2(ASMT):c.241A>G (p.Lys81Glu)not provided [RCV004704201]|not specified [RCV000736068]likely benignX16233101623310Humanname
14349874CV590814single nucleotide variantNM_001171038.2(ASMT):c.241A>G (p.Lys81Glu)not provided [RCV004704201]|not specified [RCV000736068]likely benignY16233101623310Humanname
404988738CV2849652single nucleotide variantNM_001171038.2(ASMT):c.796T>G (p.Phe266Val)not provided [RCV003490484]uncertain significanceX16364461636446Humanname
404988738CV2849652single nucleotide variantNM_001171038.2(ASMT):c.796T>G (p.Phe266Val)not provided [RCV003490484]uncertain significanceY16364461636446Humanname
404988746CV2849653single nucleotide variantNM_001171038.2(ASMT):c.687C>A (p.Tyr229Ter)not provided [RCV003490485]uncertain significanceX16331901633190Humanname
404988746CV2849653single nucleotide variantNM_001171038.2(ASMT):c.687C>A (p.Tyr229Ter)not provided [RCV003490485]uncertain significanceY16331901633190Humanname
405277903CV3191125single nucleotide variantNM_001171038.2(ASMT):c.568T>C (p.Trp190Arg)ASMT-related disorder [RCV003904718]benignX16327091632709Humanname , trait , alternate_id
405277903CV3191125single nucleotide variantNM_001171038.2(ASMT):c.568T>C (p.Trp190Arg)ASMT-related disorder [RCV003904718]benignY16327091632709Humanname , trait , alternate_id
407487388CV3414944single nucleotide variantNM_001171038.2(ASMT):c.706G>A (p.Val236Ile)not specified [RCV004597279]uncertain significanceX16332091633209Humanname
407487388CV3414944single nucleotide variantNM_001171038.2(ASMT):c.706G>A (p.Val236Ile)not specified [RCV004597279]uncertain significanceY16332091633209Humanname
155795110CV1858923single nucleotide variantNM_004192.4(ASMTL):c.599C>T (p.Pro200Leu)Myoepithelial tumor [RCV002463888]uncertain significanceX14280321428032Human1name
155795110CV1858923single nucleotide variantNM_004192.4(ASMTL):c.599C>T (p.Pro200Leu)Myoepithelial tumor [RCV002463888]uncertain significanceY14280321428032Human1name