ClinVar Miner

List of variants in gene combination GDAP1, LOC130000622 reported as likely benign for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (28):

Amyotrophic lateral sclerosis type 11; Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Autosomal dominant Charcot-Marie-Tooth disease type 2K
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease type 1D; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79
Charcot-Marie-Tooth disease type 4G; Hemolytic anemia due to hexokinase deficiency; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies
Charcot-Marie-Tooth disease type 4G; Neurodevelopmental disorder with visual defects and brain anomalies
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome
Charcot-Marie-Tooth disease type 4K
Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4F
Leigh syndrome due to mitochondrial complex IV deficiency; Charcot-Marie-Tooth disease type 4K
Leigh syndrome; Charcot-Marie-Tooth disease type 4K
Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease type 4K

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018972.4(GDAP1):c.72T>C (p.Val24=)	rs142674939	0.00010
NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg)	rs202010117	0.00007
NM_018972.4(GDAP1):c.39C>T (p.Pro13=)	rs143063749	0.00004
NM_018972.4(GDAP1):c.21G>A (p.Glu7=)	rs199612265	0.00003
NM_018972.4(GDAP1):c.117+10G>A	rs371957814	0.00002
NM_018972.4(GDAP1):c.105C>T (p.Phe35=)
NM_018972.4(GDAP1):c.111T>G (p.Ser37=)
NM_018972.4(GDAP1):c.117+12C>T
NM_018972.4(GDAP1):c.117+18G>C
NM_018972.4(GDAP1):c.117+19G>A
NM_018972.4(GDAP1):c.39C>A (p.Pro13=)
NM_018972.4(GDAP1):c.45G>A (p.Arg15=)	rs749658930
NM_018972.4(GDAP1):c.66G>A (p.Ala22=)
NM_018972.4(GDAP1):c.66G>T (p.Ala22=)
NM_018972.4(GDAP1):c.6T>C (p.Ala2=)
NM_018972.4(GDAP1):c.72T>G (p.Val24=)	rs142674939
NM_018972.4(GDAP1):c.75G>A (p.Lys25=)	rs761730309
NM_018972.4(GDAP1):c.96G>A (p.Thr32=)
NM_018972.4(GDAP1):c.96G>C (p.Thr32=)
NM_018972.4(GDAP1):c.96G>T (p.Thr32=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.