Variants in gene HNRNPA1

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:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
7	18	36	28	4	87

Condition and significance breakdown #

Total conditions: 14

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
not provided	0	2	19	12	4	36
Chronic progressive multiple sclerosis	3	12	0	4	0	19
HNRNPA1-related disorder	0	0	7	11	1	19
Inborn genetic diseases	0	0	7	0	0	7
Relapsing remitting multiple sclerosis	0	2	2	3	0	7
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3	1	1	1	0	0	3
Amyotrophic lateral sclerosis type 20	2	0	0	0	0	2
Distal myopathy	0	1	0	0	0	1
Finnish upper limb-onset distal myopathy	1	0	0	0	0	1
Finnish upper limb-onset distal myopathy; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; Amyotrophic lateral sclerosis type 20	0	0	1	0	0	1
HNRNPA1-related multisystem proteinopathy	0	0	1	0	0	1
Incidental Discovery	0	0	1	0	0	1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	0	0	1	0	0	1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; Amyotrophic lateral sclerosis type 20	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 21

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee	3	14	2	7	0	26
PreventionGenetics, part of Exact Sciences	0	0	7	11	1	19
Revvity Omics, Revvity	0	2	14	0	0	16
CeGaT Center for Human Genetics Tuebingen	0	0	3	6	1	10
Ambry Genetics	0	0	7	0	0	7
Labcorp Genetics (formerly Invitae), Labcorp	0	0	0	5	2	7
OMIM	4	0	0	0	0	4
GeneDx	0	0	2	0	2	4
Breakthrough Genomics, Breakthrough Genomics	0	0	0	0	2	2
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	0	1
Clinical Genetics, Academic Medical Center	0	0	0	1	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Harry Perkins Institute Of Medical Research, University Of Western Australia	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	1
Undiagnosed Diseases Network, NIH	0	0	1	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	1	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	0	0	1
Clinical Genetics Laboratory, Skane University Hospital Lund	0	0	1	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	1

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