ClinVar for MedGen (Select 814744) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068435	NM_006012.2(CLPP):c.-995_270+222del	CLPP, LOC130063288	Deletion	Perrault syndrome 3	GLikely pathogenic
Select item 2584518	NM_006012.4(CLPP):c.484G>A (p.Gly162Ser)	CLPP (G162S)	Single nucleotide variant (missense variant)	Perrault syndrome 3	GLikely pathogenic
Select item 1339862	NM_006012.4(CLPP):c.1A>G (p.Met1Val)	CLPP (M1V)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome 3	Gnot provided
Select item 1332812	NM_006012.4(CLPP):c.299T>C (p.Ile100Thr)	CLPP (I100T)	Single nucleotide variant (missense variant)	Perrault syndrome 3	GLikely pathogenic
Select item 1217355	NM_006012.4(CLPP):c.199-31dup	CLPP, LOC130063288	Duplication (intron variant)	Perrault syndrome 3 +1 more	GBenign
Select item 1208030	NM_006012.4(CLPP):c.555+16G>A	CLPP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 869195	NM_006012.4(CLPP):c.439T>A (p.Cys147Ser)	CLPP (C147S)	Single nucleotide variant (missense variant)	Perrault syndrome 3	GLikely pathogenic
Select item 813818	NM_006012.4(CLPP):c.233G>C (p.Arg78Pro)	CLPP, LOC130063288 (R78P)	Single nucleotide variant (missense variant)	Perrault syndrome 3	GLikely pathogenic
Select item 545503	NM_006012.4(CLPP):c.624C>G (p.Ile208Met)	CLPP (I208M)	Single nucleotide variant (missense variant)	Perrault syndrome 3	GPathogenic
Select item 500291	NM_006012.4(CLPP):c.173T>G (p.Leu58Arg)	CLPP (L58R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 453066	NM_006012.4(CLPP):c.520C>T (p.Arg174Cys)	CLPP (R174C)	Single nucleotide variant (missense variant)	Perrault syndrome 3 +1 more	GUncertain significance
Select item 226522	NM_006012.4(CLPP):c.-5G>A	CLPP	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 55870	NM_006012.4(CLPP):c.270+4A>G	CLPP, LOC130063288	Single nucleotide variant (intron variant)	Perrault syndrome 3 +1 more	GPathogenic
Select item 55869	NM_006012.4(CLPP):c.440G>C (p.Cys147Ser)	CLPP (C147S)	Single nucleotide variant (missense variant)	Perrault syndrome 3	GPathogenic
Select item 55868	NM_006012.4(CLPP):c.433A>C (p.Thr145Pro)	CLPP (T145P)	Single nucleotide variant (missense variant)	Perrault syndrome 3	GPathogenic