ClinVar for MedGen (Select 343337) - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13428601.	NM_001918.5(DBT):c.916T>C (p.Ser306Pro) GRCh37: Chr1:100680396 GRCh38: Chr1:100214840	DBT	S306P	Maple syrup urine disease	Conflicting interpretations of pathogenicity (Oct 19, 2023)	criteria provided, conflicting interpretations
Select item 6353112.	NM_001918.5(DBT):c.1190C>T (p.Thr397Ile) GRCh37: Chr1:100672020 GRCh38: Chr1:100206464	DBT	T397I	Maple syrup urine disease type 2	Uncertain significance (May 15, 2019)	criteria provided, single submitter
Select item 6353103.	NM_001918.5(DBT):c.898del (p.Ala300fs) GRCh37: Chr1:100680414 GRCh38: Chr1:100214858	DBT	A300fs	Maple syrup urine disease type 2	Pathogenic (May 15, 2019)	criteria provided, single submitter
Select item 940174.	NM_001918.5(DBT):c.939G>C (p.Lys313Asn) GRCh37: Chr1:100680373 GRCh38: Chr1:100214817	DBT	K313N	not provided, Maple syrup urine disease, Maple syrup urine disease type 2	Pathogenic/Likely pathogenic (Oct 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 940095.	NM_001918.5(DBT):c.670G>T (p.Glu224Ter) GRCh37: Chr1:100681641 GRCh38: Chr1:100216085	DBT	E224*	Maple syrup urine disease, Maple syrup urine disease type 2, not provided	Pathogenic (May 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 119536.	NM_001918.5(DBT):c.581C>G (p.Ser194Ter) GRCh37: Chr1:100681730 GRCh38: Chr1:100216174	DBT	S194*	Maple syrup urine disease type 2	Pathogenic (Apr 23, 2004)	no assertion criteria provided
Select item 119517.	NM_001918.3(DBT):c.1282-4142_*(434_435)del GRCh37: Chr1:100661376-100666120 GRCh38: Chr1:100195820-100200564	DBT		Maple syrup urine disease type 2	Pathogenic (Dec 1, 2003)	no assertion criteria provided
Select item 119508.	NM_001918.5(DBT):c.75_76del (p.Cys26fs) GRCh37: Chr1:100706416-100706417 GRCh38: Chr1:100240860-100240861	DBT	C26fs	Maple syrup urine disease type 2, Maple syrup urine disease	Pathogenic/Likely pathogenic (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119459.	NM_001918.5(DBT):c.1017+1del GRCh37: Chr1:100676249 GRCh38: Chr1:100210693	DBT		Maple syrup urine disease type 2	Pathogenic (Apr 1, 1991)	no assertion criteria provided
Select item 1194210.	NM_001918.3:c.48_171del	DBT		Maple syrup urine disease type 2	Pathogenic (Feb 1, 1991)	no assertion criteria provided