Skip to main content

Table 3 Pathogenic variations non-causing of retinitis pigmentosa

From: Gene panel sequencing in Brazilian patients with retinitis pigmentosa

Patient

Age

Gender

Gene/disease causing variation

Gene/pathogenic non disease causing variation

Results

1

43

F

None

BBS9/c.666T > A p. Thr222Thr (heterozygous)

BBS9/c.2214C > T p. Ile738Ile (heterozygous)

PCDH15/c.608C > T p. Pro203Leu (heterozygous)

SAGc.473C > A p. Thr158Lys (heterozygous)

Inconclusive

2

47

F

None

CNGA3/C.942C > A p. Thr314Thr/Lys (heterozygous)

IQCB1/c.1393T > C p. Tyr465His (heterozygous)

MFRP/c.771C > T p. Arg257Arg (heterozygous)

MKS1/c.496C > T p. Arg166Cys (heterozygous)

USH2A/c. 13355T > C p. Leu4452Ser (heterozygous)

Inconclusive

3

73

M

None

CRB1/c.3210 C > A p. Ser1070Arg (heterozygous)

TRPM1/c. 1846-8C > G (heterozygous)

TRPM1/c. 1453G > C p. Glu485Gln (heterozygous)

Inconclusive

4

17

F

None

GPR98/c.7569A > G p. Thr523Thr (heterozygous)

GRM6/c.1706C > T p. Thr569Met (heterozygous)

LCA5/c.609A > G p. Leu203Leu (heterozygous)

PCDH15/c.2578C > T p. Arg860Trp (heterozygous)

SAG/c.271C > T p. Arg91Trp (heterozygous)

SDCCAG8/c.968G > A p. Arg323Lys (heterozygous)

SLC24A1/c.2002C > T p. Arg668Cys (heterozygous)

Inconclusive

7

59

F

None

GUCY2D/c.2179G > A p. Gly727Ser (heterozygous)

MKKS/c.760G > T p. Asp254Tyr (heterozygous)

PDE6B/c. 1653C > T p. Tyr551Tyr (heterozygous)

PDE6C/c.986A > C p. Glu329Ala (heterozygous)

RBP3/c.2556C > T p. Ala852Ala (heterozygous)

RIMS1/c.3959C > A p. Ser1320Tyr (heterozygous)

Inconclusive

11

20

F

None

CDH23 c.367G > A p. Gly123Arg (heterozygous)

CDH23 c.7132G > A p. Gly2378Arg (heterozygous)

CDHR1 c.155C > T p. Ser52Phe (heterozygous)

CERKL c.589G > T p. Ala197Ser (heterozygous)

FAM161A c.1133T > G p. Leu378Arg (heterozygous)

RPGRIP1 c.256C > T p. Arg86Trp (heterozygous)

USH2A c.5039A > G p. Lys1680Arg (heterozygous)

Inconclusive

13

39

M

None

N/A

Negative

  1. N/A not applicable, F female, M male