ClinVar for MedGen (Select 1627492) - ClinVar - NCBI

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Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12795791.	NM_016653.3(MAP3K20):c.1360-28A>G GRCh37: Chr2:174123399 GRCh38: Chr2:173258671	MAP3K20, MAP3K20-AS1		not provided, Myopathy, centronuclear, 6, with fiber-type disproportion, Split-foot malformation-mesoaxial polydactyly syndrome	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12690212.	NM_016653.3(MAP3K20):c.1032+39G>A GRCh37: Chr2:174094500 GRCh38: Chr2:173229772	MAP3K20, MAP3K20-AS1		Myopathy, centronuclear, 6, with fiber-type disproportion, Split-foot malformation-mesoaxial polydactyly syndrome, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12682643.	NM_016653.3(MAP3K20):c.1592C>T (p.Ser531Leu) GRCh37: Chr2:174128513 GRCh38: Chr2:173263785	MAP3K20, MAP3K20-AS1	S531L	Myopathy, centronuclear, 6, with fiber-type disproportion, Split-foot malformation-mesoaxial polydactyly syndrome, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12635494.	NM_016653.3(MAP3K20):c.445-37A>G GRCh37: Chr2:174055731 GRCh38: Chr2:173191003	MAP3K20		Myopathy, centronuclear, 6, with fiber-type disproportion, Split-foot malformation-mesoaxial polydactyly syndrome, not provided	Benign (Sep 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12292305.	NM_016653.3(MAP3K20):c.1360-14_1360-9del GRCh37: Chr2:174123409-174123414 GRCh38: Chr2:173258681-173258686	MAP3K20, MAP3K20-AS1		not provided, Myopathy, centronuclear, 6, with fiber-type disproportion, Split-foot malformation-mesoaxial polydactyly syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11783886.	NM_016653.3(MAP3K20):c.670-11G>C GRCh37: Chr2:174068513 GRCh38: Chr2:173203785	MAP3K20-AS1, MAP3K20		Split-foot malformation-mesoaxial polydactyly syndrome, Myopathy, centronuclear, 6, with fiber-type disproportion, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4461607.	NM_016653.3(MAP3K20):c.282dup (p.Asn95Ter) GRCh37: Chr2:174047614-174047615 GRCh38: Chr2:173182886-173182887	MAP3K20	N95*	Myopathy, centronuclear, 6, with fiber-type disproportion	Pathogenic (Nov 7, 2017)	no assertion criteria provided
Select item 4461598.	NM_016653.3(MAP3K20):c.515G>A (p.Trp172Ter) GRCh37: Chr2:174055838 GRCh38: Chr2:173191110	MAP3K20	W172*	not provided	Pathogenic (Jun 19, 2022)	criteria provided, single submitter
Select item 4461589.	NM_016653.3(MAP3K20):c.490_491del (p.Met164fs) GRCh37: Chr2:174055813-174055814 GRCh38: Chr2:173191085-173191086	MAP3K20	M164fs	Myopathy, centronuclear, 6, with fiber-type disproportion	Pathogenic (Nov 7, 2017)	no assertion criteria provided