Allelic Variants - 601097 - OMIM

PERIPHERAL MYELIN PROTEIN 22; PMP22

Allelic Variants (22 Selected Examples) :

All ClinVar Variants

Number	Phenotype	Mutation	SNP	gnomAD	ClinVar
.0001	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A ROUSSY-LEVY SYNDROME, INCLUDED	PMP22, 1.4-MB DUP	-	-	RCV000008938...
.0002	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A	PMP22, LEU16PRO	rs104894617 Ensembl NCBI UCSC	-	RCV000008940...
.0003	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A	PMP22, SER79CYS	rs104894618 Ensembl NCBI UCSC	-	RCV000008941...
.0004	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, INCLUDED DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE, INCLUDED	PMP22, 1.1- to 1.5-MB DEL	-	-	RCV000008942...
.0005	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES, INCLUDED	PMP22, THR118MET	rs104894619 Ensembl NCBI UCSC	rs104894619	RCV000008945...
.0006	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	PMP22, MET69LYS	rs104894620 Ensembl NCBI UCSC	-	RCV000008947...
.0007	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	PMP22, SER72LEU	rs104894621 Ensembl NCBI UCSC	-	RCV000008948...
.0008	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	PMP22, HIS12GLN	rs104894622 Ensembl NCBI UCSC	-	RCV000008949...
.0009	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES	PMP22, 2-BP DEL, 207TC	rs587776691 Ensembl NCBI UCSC	-	RCV000008950...
.0010	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	PMP22, ALA67PRO	rs104894623 Ensembl NCBI UCSC	-	RCV000008951...
.0011	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES	PMP22, 1-BP INS, 325G	rs80338763 Ensembl NCBI UCSC	-	RCV000008952...
.0012	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	PMP22, 2-BP DEL, 426CT	rs786205087 Ensembl NCBI UCSC	-	RCV000008953
.0013	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	PMP22, GLY150CYS	rs104894624 Ensembl NCBI UCSC	rs104894624	RCV000008954...
.0014	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	PMP22, TRP28ARG	rs104894626 Ensembl NCBI UCSC	-	RCV000023072...
.0015	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	PMP22, 12-BP DEL	rs786205111 Ensembl NCBI UCSC	-	RCV000023073...
.0016	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS	PMP22, ASP37VAL	rs104894627 Ensembl NCBI UCSC	-	RCV000008955
.0017	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES	PMP22, ALA67THR	rs104894623 Ensembl NCBI UCSC	-	RCV000008956...
.0018	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE	PMP22, ARG157TRP	rs28936682 Ensembl NCBI UCSC	rs28936682	RCV000008957...
.0019	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, INCLUDED	PMP22, SER22PHE	rs104894625 Ensembl NCBI UCSC	-	RCV000008958...
.0020	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES, INCLUDED	PMP22, EX2-3DEL	-	-	RCV000008960...
.0021	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A	PMP22, 1-BP DEL, 281G	rs80338763 Ensembl NCBI UCSC	-	RCV000023074...
.0022	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A	PMP22, 1.4-MB TRIPLICATION	-	-	RCV000114955

601097

PERIPHERAL MYELIN PROTEIN 22; PMP22

Allelic Variants (22 Selected Examples :

Number	Phenotype	Mutation	SNP	gnomAD	ClinVar
.0001	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A ROUSSY-LEVY SYNDROME, INCLUDED	PMP22, 1.4-MB DUP	-	-	RCV000008938, RCV000008939
.0002	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A	PMP22, LEU16PRO	rs104894617	-	RCV000008940, RCV000685070
.0003	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A	PMP22, SER79CYS	rs104894618	-	RCV000008941, RCV002512923
.0004	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, INCLUDED DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE, INCLUDED	PMP22, 1.1- to 1.5-MB DEL	-	-	RCV000008942, RCV000008943, RCV000008944
.0005	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES, INCLUDED	PMP22, THR118MET	rs104894619	rs104894619	RCV000008945, RCV000008946, RCV000032119, RCV000194789, RCV000197572, RCV000224441, RCV001027473, RCV001507314, RCV005394144
.0006	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	PMP22, MET69LYS	rs104894620	-	RCV000008947, RCV000494533, RCV001380437, RCV003338380
.0007	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	PMP22, SER72LEU	rs104894621	-	RCV000008948, RCV000456500, RCV000489163, RCV000622525, RCV001729342
.0008	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	PMP22, HIS12GLN	rs104894622	-	RCV000008949, RCV000168060, RCV000622783, RCV000790177, RCV001195890
.0009	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES	PMP22, 2-BP DEL, 207TC	rs587776691	-	RCV000008950, RCV000789529
.0010	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	PMP22, ALA67PRO	rs104894623	-	RCV000008951, RCV000992662, RCV001047019
.0011	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES	PMP22, 1-BP INS, 325G	rs80338763	-	RCV000008952, RCV000033899, RCV000201059, RCV001063962, RCV001173918, RCV001699018
.0012	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	PMP22, 2-BP DEL, 426CT	rs786205087	-	RCV000008953
.0013	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT	PMP22, GLY150CYS	rs104894624	rs104894624	RCV000008954, RCV000594940, RCV001221866
.0014	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	PMP22, TRP28ARG	rs104894626	-	RCV000023072, RCV002512924, RCV004700206
.0015	CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS	PMP22, 12-BP DEL	rs786205111	-	RCV000023073, RCV000790261
.0016	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, WITH FOCALLY FOLDED MYELIN SHEATHS	PMP22, ASP37VAL	rs104894627	-	RCV000008955
.0017	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES	PMP22, ALA67THR	rs104894623	-	RCV000008956, RCV001173915, RCV002288476, RCV003581556
.0018	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE	PMP22, ARG157TRP	rs28936682	rs28936682	RCV000008957, RCV000193053, RCV001173916, RCV001229968, RCV001332355
.0019	NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, INCLUDED	PMP22, SER22PHE	rs104894625	-	RCV000008958, RCV000008959
.0020	DEJERINE-SOTTAS SYNDROME, AUTOSOMAL RECESSIVE NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES, INCLUDED	PMP22, EX2-3DEL	-	-	RCV000008960, RCV000008961
.0021	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A	PMP22, 1-BP DEL, 281G	rs80338763	-	RCV000023074, RCV000755044, RCV000790158, RCV001388384, RCV001507376
.0022	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A	PMP22, 1.4-MB TRIPLICATION	-	-	RCV000114955

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM^® and Online Mendelian Inheritance in Man^® are registered trademarks of the Johns Hopkins University.
Copyright^® 1966-2025 Johns Hopkins University.
Printed: July 30, 2025