Molecular Vision: Small, Mol Vis 2021; 27:518-527. Table 1

Table 1. Known genetic defects in the PRDM13 and IRX1 regions found in NCMD and possibly related diseases.

Variant Number	Type of Variant	Chromosomal Position (hg19)	Chromosomal Position (hg38)	Nucleotide Change	Phenotype	Reference
MCDR1 locus (PRDM13), chromosome 6q16
V1	SNV	chr6:100040906	chr6:99593030	G>T	NCMD	Small 2016 [13]
V2	SNV	chr6:100040987	chr6:99593111	G>C	NCMD	Small 2016 [13]
V3	SNV	chr6:100041040	chr6:99593164	C>T	NCMD	Small 2016 [13]
V4	Tandem DUP	chr6:100020205–100143306	chr6:99572329–99695430	123,101 bp DUP	NCMD	Small 2016 [13]
V6	Tandem DUP	chr6:99996226–100065137	chr6:99548350–99617261	69,912 bp DUP	NCMD	Bowne 2016 [33]
V7	Tandem DUP	chr6:99984309–100082698	chr6:99536433–99634822	98,389 bp DUP	NCMD	Manes 2017 [34]
V10	SNV	chr6:100046804	chr6:99598907	T>C	PBCRA	Silva 2019 [38]
V11	SNV	chr6:100046783	chr6:99598928	A>C	NCMD PBCRA	Silva 2019 [38]
V12	SNV	chr6:100040974	chr6:99593098	A>C	Possible NCMD	Namburi 2020 [39]
V13	Tandem DUP	chr6:100008141–100064368	chr6:99560265–99616492	56,228 bp DUP	NCMD	This report
MCDR3 locus (IRX1), chromosome 5p21
V5	Tandem DUP	chr5:3587901–4486027	chr5:3587787–4485914	898,126 bp DUP	NCMD	Small 2016 [13]
V8	Tandem DUP	chr5:4391377–4436535	chr5:4391264–4436422	45,158 bp DUP	NCMD	Cipriani 2017 [35]
V9	Tandem DUP	chr5:4396927–4440442	chr5:4396814–4440329	43,515 bp DUP	NCMD	Cipriani 2017 [35]