ClinVar for MedGen (Select 1803615) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 9

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11888751.	NM_006492.3(ALX3):c.277+33C>T GRCh37: Chr1:110612925 GRCh38: Chr1:110070303	ALX3		not provided, Frontorhiny	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5598512.	NM_006492.3(ALX3):c.736_737del (p.Leu246fs) GRCh37: Chr1:110603650-110603651 GRCh38: Chr1:110061028-110061029	ALX3	L246fs	Frontorhiny	Likely pathogenic (Aug 3, 2016)	criteria provided, single submitter
Select item 46483.	NM_006492.3(ALX3):c.586C>T (p.Arg196Trp) GRCh37: Chr1:110607217 GRCh38: Chr1:110064595	ALX3	R196W	Frontorhiny	Pathogenic (May 1, 2009)	no assertion criteria provided
Select item 46474.	NM_006492.3(ALX3):c.578_581del (p.Thr193fs) GRCh37: Chr1:110607222-110607225 GRCh38: Chr1:110064600-110064603	ALX3	T193fs	Frontorhiny	Pathogenic (May 1, 2009)	no assertion criteria provided
Select item 46465.	NM_006492.3(ALX3):c.543T>A (p.Tyr181Ter) GRCh37: Chr1:110607260 GRCh38: Chr1:110064638	ALX3	Y181*	Frontorhiny	Pathogenic (May 1, 2009)	no assertion criteria provided
Select item 46456.	NM_006492.3(ALX3):c.547C>T (p.Arg183Trp) GRCh37: Chr1:110607256 GRCh38: Chr1:110064634	ALX3	R183W	Frontorhiny	Pathogenic (May 1, 2009)	no assertion criteria provided
Select item 46447.	NM_006492.3(ALX3):c.502C>G (p.Leu168Val) GRCh37: Chr1:110607301 GRCh38: Chr1:110064679	ALX3	L168V	Frontorhiny	Pathogenic (May 1, 2009)	no assertion criteria provided
Select item 46438.	NM_006492.3(ALX3):c.608A>G (p.Asn203Ser) GRCh37: Chr1:110604172 GRCh38: Chr1:110061550	ALX3	N203S	Frontorhiny	Pathogenic (May 1, 2009)	no assertion criteria provided
Select item 46429.	NM_006492.3(ALX3):c.595-2A>T GRCh37: Chr1:110604187 GRCh38: Chr1:110061565	ALX3		Frontorhiny	Pathogenic (May 1, 2009)	no assertion criteria provided