| 404988753 | CV2849654 | single nucleotide variant | NM_001171038.2(ASMT):c.562+2T>C | not provided [RCV003490486] | conflicting interpretations of pathogenicity|uncertain significance | X | 1629941 | 1629941 | Human | | name |
| 404988753 | CV2849654 | single nucleotide variant | NM_001171038.2(ASMT):c.562+2T>C | not provided [RCV003490486] | conflicting interpretations of pathogenicity|uncertain significance | Y | 1629941 | 1629941 | Human | | name |
| 405277901 | CV3191073 | deletion | NM_001171038.2(ASMT):c.910+8del | ASMT-related disorder [RCV003904714] | likely benign | X | 1636568 | 1636568 | Human | | name , trait , alternate_id |
| 405277901 | CV3191073 | deletion | NM_001171038.2(ASMT):c.910+8del | ASMT-related disorder [RCV003904714] | likely benign | Y | 1636568 | 1636568 | Human | | name , trait , alternate_id |
| 11636054 | CV269546 | single nucleotide variant | NM_001171038.2(ASMT):c.87C>A (p.Cys29Ter) | not provided [RCV000262182] | uncertain significance | Y | 1623156 | 1623156 | Human | | name |
| 11636054 | CV269546 | single nucleotide variant | NM_001171038.2(ASMT):c.87C>A (p.Cys29Ter) | not provided [RCV000262182] | uncertain significance | X | 1623156 | 1623156 | Human | | name |
| 404988725 | CV2849651 | single nucleotide variant | NM_001171038.2(ASMT):c.51C>A (p.Asn17Lys) | ASMT-related disorder [RCV003901097]|not provided [RCV003490483] | likely benign|uncertain significance | X | 1615250 | 1615250 | Human | | name , trait , alternate_id |
| 404988725 | CV2849651 | single nucleotide variant | NM_001171038.2(ASMT):c.51C>A (p.Asn17Lys) | ASMT-related disorder [RCV003901097]|not provided [RCV003490483] | likely benign|uncertain significance | Y | 1615250 | 1615250 | Human | | name , trait , alternate_id |
| 405277815 | CV3196126 | single nucleotide variant | NM_001171038.2(ASMT):c.861C>T (p.Asp287=) | ASMT-related disorder [RCV003904643] | benign | X | 1636511 | 1636511 | Human | | name , trait , alternate_id |
| 405277815 | CV3196126 | single nucleotide variant | NM_001171038.2(ASMT):c.861C>T (p.Asp287=) | ASMT-related disorder [RCV003904643] | benign | Y | 1636511 | 1636511 | Human | | name , trait , alternate_id |
| 405288396 | CV3197406 | single nucleotide variant | NM_001171038.2(ASMT):c.630C>G (p.Arg210=) | ASMT-related disorder [RCV003982502] | likely benign | X | 1632771 | 1632771 | Human | | name , trait , alternate_id |
| 405288396 | CV3197406 | single nucleotide variant | NM_001171038.2(ASMT):c.630C>G (p.Arg210=) | ASMT-related disorder [RCV003982502] | likely benign | Y | 1632771 | 1632771 | Human | | name , trait , alternate_id |
| 405257418 | CV3200991 | single nucleotide variant | NM_001171038.2(ASMT):c.366C>T (p.Asp122=) | ASMT-related disorder [RCV003892252] | likely benign | X | 1624390 | 1624390 | Human | | name , trait , alternate_id |
| 405257418 | CV3200991 | single nucleotide variant | NM_001171038.2(ASMT):c.366C>T (p.Asp122=) | ASMT-related disorder [RCV003892252] | likely benign | Y | 1624390 | 1624390 | Human | | name , trait , alternate_id |
| 14349874 | CV590814 | single nucleotide variant | NM_001171038.2(ASMT):c.241A>G (p.Lys81Glu) | not provided [RCV004704201]|not specified [RCV000736068] | likely benign | X | 1623310 | 1623310 | Human | | name |
| 14349874 | CV590814 | single nucleotide variant | NM_001171038.2(ASMT):c.241A>G (p.Lys81Glu) | not provided [RCV004704201]|not specified [RCV000736068] | likely benign | Y | 1623310 | 1623310 | Human | | name |
| 404988738 | CV2849652 | single nucleotide variant | NM_001171038.2(ASMT):c.796T>G (p.Phe266Val) | not provided [RCV003490484] | uncertain significance | X | 1636446 | 1636446 | Human | | name |
| 404988738 | CV2849652 | single nucleotide variant | NM_001171038.2(ASMT):c.796T>G (p.Phe266Val) | not provided [RCV003490484] | uncertain significance | Y | 1636446 | 1636446 | Human | | name |
| 404988746 | CV2849653 | single nucleotide variant | NM_001171038.2(ASMT):c.687C>A (p.Tyr229Ter) | not provided [RCV003490485] | uncertain significance | X | 1633190 | 1633190 | Human | | name |
| 404988746 | CV2849653 | single nucleotide variant | NM_001171038.2(ASMT):c.687C>A (p.Tyr229Ter) | not provided [RCV003490485] | uncertain significance | Y | 1633190 | 1633190 | Human | | name |
| 405277903 | CV3191125 | single nucleotide variant | NM_001171038.2(ASMT):c.568T>C (p.Trp190Arg) | ASMT-related disorder [RCV003904718] | benign | X | 1632709 | 1632709 | Human | | name , trait , alternate_id |
| 405277903 | CV3191125 | single nucleotide variant | NM_001171038.2(ASMT):c.568T>C (p.Trp190Arg) | ASMT-related disorder [RCV003904718] | benign | Y | 1632709 | 1632709 | Human | | name , trait , alternate_id |
| 407487388 | CV3414944 | single nucleotide variant | NM_001171038.2(ASMT):c.706G>A (p.Val236Ile) | not specified [RCV004597279] | uncertain significance | X | 1633209 | 1633209 | Human | | name |
| 407487388 | CV3414944 | single nucleotide variant | NM_001171038.2(ASMT):c.706G>A (p.Val236Ile) | not specified [RCV004597279] | uncertain significance | Y | 1633209 | 1633209 | Human | | name |
| 155795110 | CV1858923 | single nucleotide variant | NM_004192.4(ASMTL):c.599C>T (p.Pro200Leu) | Myoepithelial tumor [RCV002463888] | uncertain significance | X | 1428032 | 1428032 | Human | 1 | name |
| 155795110 | CV1858923 | single nucleotide variant | NM_004192.4(ASMTL):c.599C>T (p.Pro200Leu) | Myoepithelial tumor [RCV002463888] | uncertain significance | Y | 1428032 | 1428032 | Human | 1 | name |