NM_013382.7(POMT2):c.2087C>T (p.Pro696Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000689655.9
Allele description [Variation Report for NM_013382.7(POMT2):c.2087C>T (p.Pro696Leu)]
NM_013382.7(POMT2):c.2087C>T (p.Pro696Leu)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
- Identifiers:
- MONDO: MONDO:0013154; MedGen: C3150411; Orphanet: 588; Orphanet: 899; OMIM: 613150
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 (MDDGB2)
- Synonyms:
- MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2
- Identifiers:
- MONDO: MONDO:0013160; MedGen: C3150416; OMIM: 613156
- Name:
- Autosomal recessive limb-girdle muscular dystrophy type 2N
- Synonyms:
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
- Identifiers:
- MONDO: MONDO:0013162; MedGen: C3150418; Orphanet: 206559; OMIM: 613158
-
Mild phosphoribosylpyrophosphate synthetase superactivity
Mild phosphoribosylpyrophosphate synthetase superactivityMedGen
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024