ClinVar for MedGen (Select 900688) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12610451.	NM_153365.3(TAPT1):c.200-16A>C GRCh37: Chr4:16215537 GRCh38: Chr4:16213914	TAPT1		Complex lethal osteochondrodysplasia, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12520882.	NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter) GRCh37: Chr4:16176304 GRCh38: Chr4:16174681	TAPT1	R386*	Complex lethal osteochondrodysplasia	Pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 12127853.	NM_153365.3(TAPT1):c.137T>G (p.Leu46Arg) GRCh37: Chr4:16227944 GRCh38: Chr4:16226321	TAPT1	L46R	Complex lethal osteochondrodysplasia, not provided	Benign/Likely benign (Jul 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 6902894.	NM_153365.3(TAPT1):c.1032G>T (p.Met344Ile) GRCh37: Chr4:16177817 GRCh38: Chr4:16176194	TAPT1	M344I	not provided, Complex lethal osteochondrodysplasia	Uncertain significance (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2249075.	NM_153365.3(TAPT1):c.1058A>T (p.Asp353Val) GRCh37: Chr4:16177791 GRCh38: Chr4:16176168	TAPT1	D353V	Complex lethal osteochondrodysplasia	Pathogenic (Apr 11, 2018)	no assertion criteria provided
Select item 2249066.	NM_153365.3(TAPT1):c.1108-1G>C GRCh37: Chr4:16176353 GRCh38: Chr4:16174730	TAPT1		Complex lethal osteochondrodysplasia	Pathogenic (Apr 11, 2018)	no assertion criteria provided

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