NM_024312.5(GNPTAB):c.203+10A>C AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001458943.6
Allele description [Variation Report for NM_024312.5(GNPTAB):c.203+10A>C]
NM_024312.5(GNPTAB):c.203+10A>C
Condition(s)
- Name:
- Mucolipidosis type II
- Synonyms:
- ML II ALPHA/BETA; I cell disease; Mucolipidosis 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009650; MedGen: C2673377; Orphanet: 576; OMIM: 252500
- Name:
- Pseudo-Hurler polydystrophy (ML3)
- Synonyms:
- ML III; ML III ALPHA/BETA; Mucolipidosis type 3A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018931; MedGen: C0033788; Orphanet: 577; OMIM: 252600
Assertion and evidence details
Last Updated: Feb 28, 2024