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. 2017 Dec 29;12:49–63. doi: 10.2147/OPTH.S147684

Table 3.

Additional heterozygous variants of uncertain significance found in this study

Subject Dx Disease-causing gene Other genes Nucleotide change Protein change dbSNP Reference
JB333 Stargardt ABCA4 IQCB1 c.772delA p.Arg258Aspfs*4 N/A
JB320 Stargardt ABCA4 RD3 c.16T>C p.Trp6Arg rs35649846 Friedman et al (2006)80
c.69G>C p.Glu23Asp rs34422496 Friedman et al (2006)80
JB9 Retinal degeneration (Batten disease) CLN3 MKKS c.1015A>G p.Ile339Val (hom) rs137853909 Slavotinek et al (2002)81
JB375 RP CRB1 AHI1 c.653A>G p.Tyr218Cys rs183936286 Srour et al (2012)82 and Huang et al (2015)83
c.3257A>G p.Glu1086Gly rs148000791 Kroes et al (2008)84 and Srour et al (2012)82
JB38 RP FAM161A RPGRIP1L c.685G>A p.Ala229Thr rs61747071 Khanna et al (2009)24
JB301 LCA vs achromatopsia GNAT2 GDF6 c.746C>A p.Ala249Glu rs121909352 Asai-Coakwell et al (2009)35 and (2013)36 and Tassabehji et al (2008)37
JB32 RP NR2E3 USH2A c.2137G>C p.Gly713Arg rs696723 Dreyer et al (2000)85
c.10246T>G p.Cys3416Gly rs527236140 Huang et al (2013)86
JB181 Nanophthalmos, maculopathy NR2E3 ABCA4 c.2828G>A p.Arg943Gln rs61749446 Yatsenko et al (2001)87 and Briggs et al (2001)54
JB184 Nanophthalmos, maculopathy NR2E3 ABCA4 c.2828G>A p.Arg943Gln rs61749446 Yatsenko et al (2001)87 and Briggs et al (2001)54
JB48 ADRP NR2E3 USH2A c.10246T>G p.Cys3416Gly rs527236140 Huang et al (2013)86
c.14419G>A p.Ala4807Thr rs534656527
JB275 LCA (ad retinal degeneration) OTX2 RP1 c.5673G>T p.Leu1891Phe rs139088785
JB28 LCA (EORD) PDE6A IQCB1 c.962T>A p.Val321Glu N/A
JB284 LCA RD3 USH2A c.10451G>A p.Arg3484Gln rs771999994 McGee et al (2010)76
c.13709G>A p.Arg4570His rs730254 McGee et al (2010)76
JB41 RP USH2A RP2 c.844C>T p.Arg282Trp (hom) rs1805147 Breuer et al (2002)88 and Sharon et al (2000)89
JB49 RP USH2A RP1 c.4875A>G p.Ile1625Met rs757644601
JB195 Stargardt Unknown CRX c.724G>A p.Val242Met rs61748459 Swain et al (1997)29 and Chen et al (1997)30 and (2002)31
JB42 ADRP CA4 ABCA4 c.1140T>A p.Asn380Lys rs61748549 Riveiro-Alvarez et al (2009)90
BBS12 c.617T>G p.Val206Gly N/A
CDH23 c.1096G>A p.Ala366Thr rs143282422 Ouyang et al (2005)91
GPR98 c.6017G>A p.Gly2006Asp rs768201036
USH2A c.2276G>T p.Cys759Phe rs80338902 Dreyer et al (2000)85
JB307 Cone dystrophy KIF7 BBS1 c.1169T>G p.Met390Arg rs113624356 Mykytyn et al (2003)92
CEP164 c.4228C>T p.Gln1410* rs147398904
RPGRIP1 c.1639G>T p.Ala547Ser rs10151259 Roepman et al (2000)93
CLN3 c.1189G>A p.Ala397Thr rs754468227
RP1l1 c.6359A>G p.Glu2120Gly N/A
JB284 LCA (RP) PROM1 USH2A c.13709G>A p.Arg4570His rs730254 McGee et al (2010)76
USH2A c.13297G>T p.Val4433Leu rs111033381 Dreyer et al (2008)75
USH2A c.10451G>A p.Arg3484Gln rs771999994
RP1 c.5840T>G p.Leu1947Trp N/A
RPGRIP1 c.3341A>G p.Asp1114Gly rs17103671 Gerber et al (2001)94
BBS1 c.700G>A p.Glu234Lys rs35520756 Beales et al (2003)95
ABCA4 c.3602G>T p.Leu1201Arg rs61750126 Briggs et al (2001)54
RD3 c.69G>C p.Glu23Asp rs34422496 Friedman et al (2006)80
RD3 c.16T>C p.Trp6Arg rs35649846 Friedman et al (2006)80
WFS1 c.862G>A p.Val288Met rs71537685
WFS1 c.1949A>G p.Tyr650Cys N/A
WFS1 c.2008G>A p.Gly670Ser N/A
JB274 LCA CRB1 KIF7 c.A2501A>G p.Gln834Arg rs138354681 Putoux et al (2011)20
BBS1 c.1396G>A p.Ala466Thr N/A
FAM161A c.1133T>G p.Leu378Arg rs187695569 Langmann et al (2010)96
MAK c.112A>C p.Lys38Gln N/A
RGS9 c.1351C>A p.Gln451Lys N/A

Note: These variants are unlikely to be pathogenic in the subjects, but we were unable to exclude the possibility that they act as modifying alleles.

Abbreviations: ADRP, autosomal dominant retinitis pigmentosa; BBS, Bardet–Biedl syndrome; CORD, cone–rod dystrophy; dbSNP, database of single nucleotide polymorphisms; Dx, diagnosis; EORD, early-onset reitnal degeneration; LCA, Leber’s congenital amaurosis; N/A, not applicable; RP, retinitis pigmentosa.