ClinVar for MedGen (Select 814744) - ClinVar - NCBI

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Items: 14

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25845181.	NM_006012.4(CLPP):c.484G>A (p.Gly162Ser) GRCh37: Chr19:6364579 GRCh38: Chr19:6364568	CLPP	G162S	Perrault syndrome 3	Likely pathogenic	criteria provided, single submitter
Select item 13398622.	NM_006012.4(CLPP):c.1A>G (p.Met1Val) GRCh37: Chr19:6361586 GRCh38: Chr19:6361575	CLPP	M1V	Perrault syndrome 3	not provided	no assertion provided
Select item 13328123.	NM_006012.4(CLPP):c.299T>C (p.Ile100Thr) GRCh37: Chr19:6362485 GRCh38: Chr19:6362474	CLPP	I100T	Perrault syndrome 3	Likely pathogenic	criteria provided, single submitter
Select item 12173554.	NM_006012.4(CLPP):c.199-31dup GRCh37: Chr19:6361845-6361846 GRCh38: Chr19:6361834-6361835	CLPP, LOC130063288		Perrault syndrome 3, not provided	Benign (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12080305.	NM_006012.4(CLPP):c.555+16G>A GRCh37: Chr19:6364666 GRCh38: Chr19:6364655	CLPP		Perrault syndrome 3, not provided	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8691956.	NM_006012.4(CLPP):c.439T>A (p.Cys147Ser) GRCh37: Chr19:6364534 GRCh38: Chr19:6364523	CLPP	C147S	Perrault syndrome 3	Likely pathogenic (Oct 21, 2019)	no assertion criteria provided
Select item 8138187.	NM_006012.4(CLPP):c.233G>C (p.Arg78Pro) GRCh37: Chr19:6361914 GRCh38: Chr19:6361903	CLPP, LOC130063288	R78P	Perrault syndrome 3	Likely pathogenic (May 7, 2018)	criteria provided, single submitter
Select item 5455038.	NM_006012.4(CLPP):c.624C>G (p.Ile208Met) GRCh37: Chr19:6366337 GRCh38: Chr19:6366326	CLPP	I208M	Perrault syndrome 3	Pathogenic (Jun 13, 2018)	no assertion criteria provided
Select item 5002919.	NM_006012.4(CLPP):c.173T>G (p.Leu58Arg) GRCh37: Chr19:6361758 GRCh38: Chr19:6361747	CLPP	L58R	not provided, Perrault syndrome 3	Conflicting interpretations of pathogenicity (May 7, 2018)	criteria provided, conflicting interpretations
Select item 45306610.	NM_006012.4(CLPP):c.520C>T (p.Arg174Cys) GRCh37: Chr19:6364615 GRCh38: Chr19:6364604	CLPP	R174C	Perrault syndrome 3, not provided	Uncertain significance (Sep 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22652211.	NM_006012.4(CLPP):c.-5G>A GRCh37: Chr19:6361581 GRCh38: Chr19:6361570	CLPP		not specified, not provided, Perrault syndrome 3	Benign (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 5587012.	NM_006012.4(CLPP):c.270+4A>G GRCh37: Chr19:6361955 GRCh38: Chr19:6361944	CLPP, LOC130063288		Perrault syndrome 3, Autosomal recessive hearing impairment with normal menstrual cycles	Pathogenic (Jun 17, 2013)	no assertion criteria provided
Select item 5586913.	NM_006012.4(CLPP):c.440G>C (p.Cys147Ser) GRCh37: Chr19:6364535 GRCh38: Chr19:6364524	CLPP	C147S	Perrault syndrome 3	Pathogenic (Jun 17, 2013)	no assertion criteria provided
Select item 5586814.	NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) GRCh37: Chr19:6364528 GRCh38: Chr19:6364517	CLPP	T145P	Perrault syndrome 3	Pathogenic (Jun 17, 2013)	no assertion criteria provided