TABLE 4:

VARIANTS OF UNCERTAIN SIGNIFICANCE IDENTIFIED

	Subject #5	Subject #6	Subject #7	Subject #8
Gene	FKBP10	SLC34A3	HGD	HGD
OMIM Inheritance	AR	AR	AR	AR
Variant ID	17-39975558-T-TC	9-140127675-C-T	3-120369585-GATGGGCATGTCCTTCCCTAGAACTGAGCCACTTACCTGTTCTCCATGGAGGTATTGC-G	3-120352080-T-C
HGVS	ENST00000321562.4:c.824_825insC ENSP00000317232.4:p.Gly278ArgfsTer95	ENST00000538474.1:c.575C>T ENSP00000442397.1:p.Ser192Leu	ENST00000283871.5:c.413_434+35delGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCAT	ENST00000283871.5:c.1102A>G ENSP00000283871.5:p.Met368Val
Effect	Frameshift	Missense	Frameshift	Missense
Zygosity	Heterozygous	Compound Heterozygous with a Common Allele	Compound Heterozygous with a Common Allele (3-120389316-T-A; c.240A>T; p.Gln80His)	Compound Heterozygous with a Common Allele (3-120389316-T-A; c.240A>T; p.Gln80His)
Allele occurrences in gnomAD	30	99	1	51
ACMG	Pathogenic	Pathogenic	Likely Pathogenic	Pathogenic
Additional information	This variant is DM in HGMD and Pathogenic in ClinVar for Osteogenesis Imperfecta AR PMID 20362275.	ClinVar RSID 199690076. This variant is Pathogenic in ClinVar. A variant at the same site with a different nucleotide change is also Pathogenic in Clinvar. PMID 16358215. Patient was comphet for this one (c.575C>T) and c.304+2T→C		HGD gene was formerly named AKU DM in HGMD and Pathogenic in ClinVar for alkaptonuria. PMID 9529363.