Total 94 pathogenic variants reported for Choroideremia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) SNV
Germline		 ChrX:85894214 Pathogenic Choroideremia
Condition: not provided
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255733 rs_132630264

3 SubmittersRCV000011899RCV001092045RCV004814883
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) SNV
Germline		 ChrX:85894227 Pathogenic Choroideremia No Assertion Criteria Provided
 CA255736 rs_132630265

1 SubmittersRCV000011900
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) SNV
Germline		 ChrX:85894201 Pathogenic Choroideremia
Condition: not provided		 Criteria Provided
Single Submitter
 CA255740 rs_132630267

2 SubmittersRCV000011903RCV003556002
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) SNV
Germline		 ChrX:85957918 Pathogenic Choroideremia
Condition: not provided
Retinal dystrophy
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA220700 rs_132630266

11 SubmittersRCV000011904RCV000078687RCV004814884RCV005887433
NM_000390.4(CHM):c.1520A>G (p.His507Arg) SNV
Germline		 ChrX:85879054 Likely pathogenic Choroideremia Criteria Provided
Single Submitter
 CA261228 rs_397514603

3 SubmittersRCV000033030
NM_000322.5(PRPH2):c.828+3A>T SNV
Germline		 Chr6:42704362 Pathogenic Condition: not provided
PRPH2-related disorder
Retinal dystrophy
Stargardt disease
Retinitis pigmentosa
Doyne honeycomb retinal dystrophy
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Choroideremia
Cone-rod dystrophy
Patterned macular dystrophy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA226319 rs_281865373

10 SubmittersRCV000085026RCV001047656RCV001073686RCV001250344RCV001250357RCV001250358RCV001250346RCV001250347RCV001250345RCV001250359RCV001542666
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) SNV
Germline		 ChrX:85958872 Pathogenic Choroideremia
Condition: not provided
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA270018 rs_527236048

9 SubmittersRCV000132595RCV000519231RCV003888542
NM_000390.4(CHM):c.116+1G>A SNV
Germline		 ChrX:86027490 Pathogenic/Likely pathogenic Choroideremia
Retinal dystrophy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA274479 rs_786204761

8 SubmittersRCV000169622RCV001075041RCV001268402
NM_000390.4(CHM):c.957A>G (p.Thr319=) SNV
Germline		 ChrX:85956362 Conflicting classifications of pathogenicity Condition: not provided
Choroideremia		 Criteria Provided
Conflicting Classifications
 CA247527 rs_373242750

3 SubmittersRCV000180152RCV001274745
NM_000390.4(CHM):c.116+1G>T SNV
Germline		 ChrX:86027490 Pathogenic/Likely pathogenic Condition: not provided
Retinal dystrophy
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603643 rs_786204761

4 SubmittersRCV000354112RCV001075589RCV001775108
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) SNV
Germline		 ChrX:85958881 Pathogenic Condition: not provided
Choroideremia
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603696 rs_886041179

7 SubmittersRCV000320612RCV001002947RCV001074621
NM_000390.4(CHM):c.757C>T (p.Arg253Ter) SNV
Germline		 ChrX:85958923 Pathogenic Condition: not provided
Retinitis pigmentosa
Retinal dystrophy
CHM-related disorder
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603741 rs_886041178

7 SubmittersRCV000265578RCV000787565RCV003888669RCV004755834RCV005863076
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) SNV
Germline		 ChrX:85958965 Pathogenic Condition: not provided
Choroideremia
Retinal dystrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10465535 rs_776256380

10 SubmittersRCV000302207RCV000763635RCV004816501
NM_000390.4(CHM):c.1244+8T>A SNV
Germline		 ChrX:85911253 Conflicting classifications of pathogenicity Condition: not provided
Choroideremia
not specified		 Criteria Provided
Conflicting Classifications
 CA10465450 rs_369829791

6 SubmittersRCV000389318RCV001274743RCV001699334
NM_000390.4(CHM):c.1A>G (p.Met1Val) SNV
Unknown		 ChrX:86047532 Likely pathogenic Choroideremia No Assertion Criteria Provided
 CA16042050 rs_1057516265

1 SubmittersRCV000412301
NM_000390.4(CHM):c.1019C>A (p.Ser340Ter) SNV
Germline		 ChrX:85956300 Pathogenic Condition: not provided
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043335 rs_1057517714

3 SubmittersRCV000414588RCV006549981
NM_000390.4(CHM):c.315-1536A>G SNV
Germline		 ChrX:85965588 Likely pathogenic Retinal dystrophy
Abnormality of the eye
Choroideremia		 Criteria Provided
Single Submitter
 CA645509232 rs_1555955061

3 SubmittersRCV000504724RCV000504914RCV001542630
NM_000390.4(CHM):c.1609+2T>A SNV
Germline		 ChrX:85878963 Pathogenic Condition: not provided
Choroideremia
Nonpapillary renal cell carcinoma		 Criteria Provided
Single Submitter
 CA413787470 rs_1556217900

3 SubmittersRCV000520979RCV005606670RCV005901173
NM_000390.4(CHM):c.820-2A>G SNV
Germline		 ChrX:85957977 Pathogenic Condition: not provided
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413785934 rs_1556307713

3 SubmittersRCV000521080RCV000990895
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter) SNV
Germline		 ChrX:85911287 Pathogenic Condition: not provided
Choroideremia
CHM-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413790282 rs_1556277815

4 SubmittersRCV000578632RCV001775134RCV004755977
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) SNV
Germline		 ChrX:86047511 Pathogenic Choroideremia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413788688 rs_1603288832

4 SubmittersRCV000787004RCV001092880
NM_000390.4(CHM):c.1255A>G (p.Ile419Val) SNV
Germline		 ChrX:85901178 Conflicting classifications of pathogenicity Condition: not provided
Choroideremia
Inborn genetic diseases
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA10465422 rs_140093046

4 SubmittersRCV000878591RCV001830930RCV002536799RCV003890004
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) SNV
Unknown		 ChrX:85879001 Pathogenic Choroideremia Criteria Provided
Single Submitter
 CA413787561 rs_1603236385

1 SubmittersRCV000990893
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) SNV
Germline		 ChrX:85901119 Pathogenic Choroideremia No Assertion Criteria Provided
 CA413789678 rs_1603244690

1 SubmittersRCV001002945
NM_000390.4(CHM):c.819+1G>C SNV
Germline		 ChrX:85958860 Pathogenic Choroideremia No Assertion Criteria Provided
 CA413785941 rs_1603263147

1 SubmittersRCV001002946
NM_000390.4(CHM):c.1413+1G>T SNV
Germline		 ChrX:85900645 Pathogenic Condition: not provided
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413789191 rs_1926202120

3 SubmittersRCV001092046RCV001199668
NM_000390.4(CHM):c.469C>T (p.Gln157Ter) SNV
Germline		 ChrX:85963898 Pathogenic Choroideremia Criteria Provided
Single Submitter
 CA413787104 rs_1930431885

1 SubmittersRCV001199666
NM_000322.5(PRPH2):c.582-1G>A SNV
Germline		 Chr6:42704612 Pathogenic/Likely pathogenic PRPH2-related disorder
Stargardt disease
Condition: not provided
Retinal dystrophy
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA364135897 rs_1800118693

5 SubmittersRCV001212443RCV001250354RCV001530353RCV004813889RCV005419038
NM_000390.4(CHM):c.83C>G (p.Ser28Ter) SNV
Germline		 ChrX:86027524 Likely pathogenic Choroideremia Criteria Provided
Single Submitter
 CA413787996 rs_2147791162

1 SubmittersRCV001376425
NM_000390.4(CHM):c.1663A>T (p.Arg555Ter) SNV
Germline		 ChrX:85873159 Pathogenic Condition: not provided
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413786802 rs_2148120604

3 SubmittersRCV001386023RCV005635144
NM_000390.4(CHM):c.1166+1G>C SNV
Germline		 ChrX:85956152 Pathogenic Condition: not provided
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413784701 rs_2147662906

2 SubmittersRCV001389181RCV001587392
NM_000390.4(CHM):c.224G>A (p.Trp75Ter) SNV
Germline		 ChrX:85978857 Pathogenic Condition: not provided
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413788098 rs_1931440274

2 SubmittersRCV001386911RCV005002013
NM_000390.4(CHM):c.49+3A>G SNV
Germline		 ChrX:86047481 Pathogenic/Likely pathogenic Condition: not provided
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2499226917 rs_2147818976

3 SubmittersRCV001381242RCV005606820
NM_000390.4(CHM):c.205G>C (p.Val69Leu) SNV
Germline		 ChrX:85978876 Conflicting classifications of pathogenicity Condition: not provided
Choroideremia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA10465621 rs_145088557

4 SubmittersRCV001513388RCV001832692RCV002564320
NM_000390.4(CHM):c.232C>T (p.Gln78Ter) SNV
Germline		 ChrX:85978849 Pathogenic Choroideremia Criteria Provided
Single Submitter
 CA413788054 rs_2147706580

1 SubmittersRCV001534620
NM_000390.4(CHM):c.856C>T (p.Gln286Ter) SNV
Germline		 ChrX:85957939 Pathogenic Choroideremia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413785846 rs_2147665799

2 SubmittersRCV001591916RCV001866160
NM_000390.4(CHM):c.1066A>T (p.Lys356Ter) SNV
Germline		 ChrX:85956253 Pathogenic Choroideremia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413785111 rs_2147663153

2 SubmittersRCV001591917RCV002571164
NM_000390.4(CHM):c.1359C>T (p.Ser453=) SNV
Germline		 ChrX:85900700 Conflicting classifications of pathogenicity Condition: not provided
Choroideremia		 Criteria Provided
Conflicting Classifications
 CA517493782 rs_2148153518

3 SubmittersRCV001758189RCV003389339
NM_000390.4(CHM):c.703-2A>G SNV
Unknown		 ChrX:85958979 Pathogenic Choroideremia
Nonpapillary renal cell carcinoma		 Criteria Provided
Single Submitter
 CA413786190 rs_2147667674

2 SubmittersRCV001801328RCV005922561
NM_000390.4(CHM):c.979C>T (p.Gln327Ter) SNV
Germline		 ChrX:85956340 Pathogenic Condition: not provided
Retinal dystrophy
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413785438 rs_2147663380

3 SubmittersRCV001960690RCV004816823RCV006262005
NM_000390.4(CHM):c.1695T>G (p.Tyr565Ter) SNV
Germline		 ChrX:85873127 Pathogenic Condition: not provided
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413786602 rs_764025364

2 SubmittersRCV001895107RCV004796676
NM_000390.4(CHM):c.187C>T (p.Gln63Ter) SNV
Germline		 ChrX:85981739 Pathogenic Choroideremia
Retinal dystrophy
Nonpapillary renal cell carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413788234 rs_1931625420

3 SubmittersRCV002204557RCV004816974RCV005929841
NM_000390.4(CHM):c.1350-1G>A SNV
Germline		 ChrX:85900710 Pathogenic/Likely pathogenic Choroideremia Criteria Provided
Multiple Submitters
No Conflicts
 CA413789470 rs_2148153587

2 SubmittersRCV002249357
NM_000390.4(CHM):c.437T>G (p.Leu146Ter) SNV
Germline		 ChrX:85963930 Pathogenic Choroideremia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413787192 rs_2147676177

2 SubmittersRCV002249359RCV003101341
NM_000390.4(CHM):c.309T>A (p.Tyr103Ter) SNV
Germline		 ChrX:85978772 Likely pathogenic Choroideremia Criteria Provided
Single Submitter
 CA413787771 rs_897855683

1 SubmittersRCV002250934
NM_000390.4(CHM):c.129T>A (p.Tyr43Ter) SNV
Unknown		 ChrX:85981797 Likely pathogenic Choroideremia Criteria Provided
Single Submitter
 CA413788369 rs_2520327814

1 SubmittersRCV002309207
NM_000390.4(CHM):c.1186G>T (p.Gly396Ter) SNV
Germline		 ChrX:85911319 Pathogenic/Likely pathogenic Choroideremia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413790354 rs_2520132180

2 SubmittersRCV002309390RCV006470473
NM_000390.4(CHM):c.963T>A (p.Tyr321Ter) SNV
Unknown		 ChrX:85956356 Likely pathogenic Choroideremia Criteria Provided
Single Submitter
 CA413785503 rs_2520253188

1 SubmittersRCV002309412
NM_000390.4(CHM):c.1530C>A (p.Cys510Ter) SNV
Unknown		 ChrX:85879044 Likely pathogenic Choroideremia Criteria Provided
Single Submitter
 CA413787657 rs_2520028194

1 SubmittersRCV002310390
NM_000390.4(CHM):c.941-1G>A SNV
Germline		 ChrX:85956379 Pathogenic Choroideremia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413785594 rs_1930009592

2 SubmittersRCV002470649RCV002571498
NM_006445.4(PRPF8):c.38C>T (p.Pro13Leu) SNV
Germline		 Chr17:1684534 Conflicting classifications of pathogenicity Condition: not provided
Choroideremia		 Criteria Provided
Conflicting Classifications
 CA8272758 rs_144249808

2 SubmittersRCV003064373RCV005419543
NM_000390.4(CHM):c.1511-1G>A SNV
Germline		 ChrX:85879064 Pathogenic Condition: not provided
CHM-related disorder
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413787701 rs_2520028297

3 SubmittersRCV003041459RCV003427550RCV005636694
NM_000390.4(CHM):c.1166+1G>A SNV
Germline		 ChrX:85956152 Pathogenic Condition: not provided
Choroideremia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA413784702 rs_2147662906

2 SubmittersRCV003659415RCV006271962
NM_000390.4(CHM):c.1615G>T (p.Glu539Ter) SNV
Germline		 ChrX:85873207 Pathogenic Choroideremia Criteria Provided
Single Submitter
 CA413787063 rs_2520014875

1 SubmittersRCV003991258
NM_000390.4(CHM):c.1512T>A (p.Tyr504Ter) SNV
Germline		 ChrX:85879062 Pathogenic Choroideremia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004813017RCV006479418
NM_000390.4(CHM):c.702+1G>T SNV
Germline		 ChrX:85963664 Likely pathogenic Choroideremia Criteria Provided
Single Submitter

1 SubmittersRCV005049873
NM_000390.4(CHM):c.874A>G (p.Lys292Glu) SNV
Germline		 ChrX:85957921 Likely pathogenic Choroideremia Criteria Provided
Single Submitter

1 SubmittersRCV005235894
NM_000390.4(CHM):c.1349+2T>C SNV
Germline		 ChrX:85901082 Pathogenic Choroideremia Criteria Provided
Single Submitter

1 SubmittersRCV005882641
NM_000390.4(CHM):c.919A>T (p.Lys307Ter) SNV
Germline		 ChrX:85957876 Likely pathogenic Choroideremia Criteria Provided
Single Submitter

1 SubmittersRCV005884181
NM_000390.4(CHM):c.1609+2T>C SNV
Germline		 ChrX:85878963 Likely pathogenic Choroideremia
Nonpapillary renal cell carcinoma		 Criteria Provided
Single Submitter

2 SubmittersRCV005885826RCV005938221