ClinVar for MedGen (Select 462389) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 6

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 5222731.	NM_001032283.3(TMPO):c.280-8G>A GRCh37: Chr12:98921656 GRCh38: Chr12:98527878	TMPO		Dilated cardiomyopathy 1T, Loeys-Dietz syndrome 2	Benign/Likely benign (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4178712.	NM_001032283.3(TMPO):c.565+1717G>C GRCh37: Chr12:98927333 GRCh38: Chr12:98533555	TMPO	S433T	Inborn genetic diseases	Uncertain significance (Jan 1, 2023)	criteria provided, single submitter
Select item 2254943.	NM_001032283.3(TMPO):c.565+1957del GRCh37: Chr12:98927573 GRCh38: Chr12:98533795	TMPO	L513fs	Dilated cardiomyopathy 1T	Uncertain significance (Mar 18, 2016)	criteria provided, single submitter
Select item 1921334.	NM_001032283.3(TMPO):c.565+1696C>T GRCh37: Chr12:98927312 GRCh38: Chr12:98533534	TMPO	P426L	not specified, Loeys-Dietz syndrome 2, Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Amyloidosis, Inborn genetic diseases, not provided, Dilated cardiomyopathy 1T	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 446625.	NM_001032283.3(TMPO):c.565+1665A>G GRCh37: Chr12:98927281 GRCh38: Chr12:98533503	TMPO	K416E	Inborn genetic diseases, not specified, not provided, Dilated cardiomyopathy 1T, Loeys-Dietz syndrome 2	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127076.	NM_001032283.3(TMPO):c.565+2487C>T GRCh37: Chr12:98928103 GRCh38: Chr12:98534325	TMPO	R690C	Inborn genetic diseases, not provided, not specified, Dilated cardiomyopathy 1T, Loeys-Dietz syndrome 2, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 25	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations