Some SNPs in the multivitamin transporter (SLC5A6) have been reported but as far as I can see their possible clinical significance is not yet known.

See the "Genomic Variants" section in SLC5A6 Gene - GeneCards | SC5A6 Protein | SC5A6 Antibody for more on this.

I'm going to do some intense pouring over of my genetic data...for lack of any other options right now. Just to give you an idea of what's involved when you test with an outfit like Genos Research...

To stay out of trouble with the FDA, they only report on your variants that have some publicly available and "trusted" information on them. They tell you whether you have one or two copies of the variant and then categorize it as Pathogenic, Likely Pathogenic, VUS (Variant of Undetermined Significance), Likely Benign, or Benign based on the overall findings of the available reports. They then link to all the reports.

I have 3749 variants with this breakdown:

Pathogenic - 34
Likely Pathogenic - 6
VUS - 75
Likely Benign - > 500
Benign - > 500

They also give you a helpful histogram chart showing the categorization of the available reports and how many reports are available. For example, the biotinidase variant was right at the top of the list because it had the most reports with 15, and the histogram showed all 15 reports were red or pathogenic. Everyone was in violent agreement that this was a bad variant. With other ones, you'll see some disagreement between reports on whether they're bad or not.

You can also sort them by population prevalence which is interesting. For example, here's one that that is only present in 0.180% - 0.238% of the population with four reports available, three of them saying pathogenic, and one saying likely pathogenic.

NM_001003841.2(SLC6A19):c.517G>A (p.Asp173Asn) AND Neutral 1 amino acid transport defect

And if I click on the reports, I see a bunch of gobbledygook, but look for some words in plain English that might help. In this case, "Hartnup disease" was stated which I can Google.

Hartnup disease - Genetics Home Reference

"Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet. As a result, affected individuals are not able to use these amino acids to produce other substances, such as vitamins and proteins. Most people with Hartnup disease are able to get the vitamins and other substances they need with a well-balanced diet."

After further reading, I see that nicotinamide or niacin supplements are recommended for people with this disorder. Maybe I'll add one of those to my arsenal.

Such fun.

As an addendum, I should mention that since I started taking biotin, a bad patch of skin I've had for about a decade has cleared up. Woohoo!

It seems you are as determined with your research efforts as I am in refusal to accept this garbage diagnosis. I am convinced there is a metabolic error which won't allow me to absorb nutrients -some of which are copper, iron, and iodine. I know it's genetic, and we have the EDS diagnosis, but I don't believe that it's that simple. I don't think I have defective collagen and connective tissue. I think it's a metabolic mutation.

You might want to read this new post:
Small fiber neuropathy

This new poster tested positive for a DNA mutation involving familial dysautomnia and two others so far.

Perhaps seeing a genetic specialist may be helpful for you too?
(rather than neurologists, rheumies)

I am, Healthgirl. I have a ton to learn, but I'm determined to do everything I can see if my genetics will turn up a clue. I likewise feel there's a good possibility of a metabolic problem, and I'm going to start looking at those 34 pathogenic variants. I have the proper expectations going into it, but at least I'll feel like I'm doing something.

Are you looking though your whole exome test or a 23and me?

My whole exome.

As best I understand things, the only data I can see in my whole exome are the variants that have publicly available reports in ClinVar on them. ClinVar is maintained by NIH. Introduction - ClinVar - NCBI

Based on the information Genos provides, the average person has millions of variants. So in the end, I'm only seeing a minuscule amount of information, but it's the only meaningful information there is.

What I haven't figured out is whether there would be a way for me to see a SNP with no public information if I really wanted to. I can do that on 23andme, but I don't know if I can to that on Genos, and obviously Genos has processed a ton more of my genome.

Was your test though ambry genetics? I didn't get anything back except page after page of no mutation found for specific known mutations.