Gene Mutation Browser

Coriell Institute for Medical Research

Gene Mutations

Records Return: (13)

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Gene	Gene Omim Number	Disease Omim Number	Chromosome Location	Gene Mutation	Allelic Variant	Omim Phenotype	Sample Count
GNPTAB	607840	252500	12q23.3	1012delA		MUCOLIPIDOSIS II	2
GNPTAB	607840	252500	12q23.3	1744delC		MUCOLIPIDOSIS II	2
GNPTAB	607840	252500	12q23.3	2-BP DEL, 3665TC	0011	MUCOLIPIDOSIS II	14
GNPTAB	607840	252500	12q23.3	2352delTinsAAA		MUCOLIPIDOSIS II	2
GNPTAB	607840	252500	12q23.3	4-BP DUP, 3395CTAC		MUCOLIPIDOSIS II	2
GNPTAB	607840	252500	12q23.3	4-BP TRIP, 1902TATA		MUCOLIPIDOSIS II	1
GNPTAB	607840	252900	12q23.3	5-BP DEL, 2215ACTCA		MUCOLIPIDOSIS IIIA	1
GNPTAB	607840	252900	12q23.3	733A>T		MUCOLIPIDOSIS IIIA	2
GNPTAB	607840	252500	12q23.3	ARG46TER		MUCOLIPIDOSIS II	1
GNPTAB	607840	252600	12q23.3	G>A,EX7	0001	MUCOLIPIDOSIS IIIA, ATYPICAL	1
GNPTAB	607840	252900	12q23.3	GLN278TER		MUCOLIPIDOSIS IIIA	2
GNPTAB	607840	252900	12q23.3	IVS17DS,T>G,+6	0013	MUCOLIPIDOSIS IIIA	4
GNPTAB	607840	252900	12q23.3	LYS4GLN	0014	MUCOLIPIDOSIS IIIA	3

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