Table 1.

Known Genetic Defects in the (MCDR1) PRDM13 and (MCDR3) IRX1 Regions Found in NCMD and Possibly Related Diseases.

Region/Variant Number	Type of Variant	Chromosomal Position (hg19)	Chromosomal Position (hg38)	Nucleotide Change	Phenotype	Reference a
MCDR1 locus(PRDM13),chr6q16V1	SNV	chr6:100040906	chr6:99593030	G>T	NCMD	Small et al 13
V2	SNV	chr6:100040987	chr6:99593111	G>C	NCMD	Small et al 13
V3	SNV	chr6:100041040	chr6:99593164	C>T	NCMD	Small et al 13
V4	Tandem DUP	chr6:100020205-100143306	chr6:99572329-99695430	123,101 bp DUP	NCMD	Small et al 13
V6	Tandem DUP	chr6:99996226-100065137	chr6:99548350-99617261	69,912 bp DUP	NCMD	Bowne et al 33
V7	Tandem DUP	chr6:99984309-100082698	chr6:99536433-99634822	98,389 bp DUP	NCMD	Manes et al 24
V10	SNV	chr6:100046804	chr6:99598907	T>C	PBCRA	Silva et al 39
V11	SNV	chr6:100046783	chr6:99598928	A>C	NCMD PBCRA	Silva et al 39
V12	SNV b	chr6:100040974	chr6:99593098	A>C	Possible NCMD	Namburi et al 32
V13	Tandem DUP	chr6:100008141-100064368	chr6:99560265-99616492	56,228 bp DUP	NCMD	Small 47
V14	SNV	chr6:100040906	chr6:99593030	G>C	NCMD	Current
MCDR3 locus(IRX1),chr5p21
V5	Tandem DUP	chr5:3587901-4486027	chr5:3587787-4485914	898,126 bp DUP	NCMD	Small et al 13
V8	Tandem DUP	chr5:4391377–4436535	chr5:4391264-4436422	45,158 bp DUP	NCMD	Cipriani et al 36
V9	Tandem DUP	chr5:4396927–4440442	chr5:4396814-4440329	43,515 bp DUP	NCMD	Cipriani et al 36

Abbreviations: A, adenine; bp, base pair; C, cytosine; chr, chromosome; DUP, duplication; G, guanine; NCMD, North Carolina macular dystrophy; PBCRA, progressive bifocal chorioretinal atrophy; SNV, single nucleotide variation; T, thymine

^aFirst author.

^bThis reported SNV is in a small family in an isolated population with diagnostic inconsistencies and molecular confounding factors and must be corroborated.