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Links from MedGen

Items: 46

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:49084572
GRCh38:
ChrX:49228110
CACNA1FW284fs, W349fsCongenital stationary night blindness 2APathogenic
(Mar 24, 2023)
criteria provided, single submitter
2.
GRCh37:
ChrX:49071685
GRCh38:
ChrX:49215225
CACNA1FA1099D, A1153D, A1164DCongenital stationary night blindness 2AUncertain significance
(Feb 7, 2021)
criteria provided, single submitter
3.
GRCh37:
ChrX:49088259-49088266
GRCh38:
ChrX:49231797-49231804
CACNA1FR50fsCongenital stationary night blindness 2ALikely pathogenic
(Sep 1, 2022)
no assertion criteria provided
4.
GRCh37:
ChrX:49087367-49087368
GRCh38:
ChrX:49230905-49230906
CACNA1FS156fs, S91fsCongenital stationary night blindness 2ALikely pathogenic
(Sep 1, 2022)
no assertion criteria provided
5.
GRCh37:
ChrX:49083473-49083474
GRCh38:
ChrX:49227011-49227012
CACNA1FE347fs, E412fsCongenital stationary night blindness 2ALikely pathogenic
(Sep 1, 2022)
no assertion criteria provided
6.
GRCh37:
ChrX:49079466
GRCh38:
ChrX:49223007
CACNA1FK616fs, K670fs, K681fsCongenital stationary night blindness 2ALikely pathogenic
(Sep 1, 2022)
no assertion criteria provided
7.
GRCh37:
ChrX:49065848
GRCh38:
ChrX:49209388
CACNA1F, LOC126863257L1556fs, L1610fs, L1621fsCongenital stationary night blindness 2ALikely pathogenic
(Sep 1, 2022)
no assertion criteria provided
8.
GRCh37:
ChrX:49071662
GRCh38:
ChrX:49215202
CACNA1FR1107fs, R1161fs, R1172fsCongenital stationary night blindness 2ALikely pathogenic
(Jun 23, 2022)
criteria provided, single submitter
9.
GRCh37:
ChrX:49068396-49068398
GRCh38:
ChrX:49211936-49211938
CACNA1FN1300del, N1354del, N1365delCongenital stationary night blindness 2AUncertain significance
(Aug 21, 2018)
criteria provided, single submitter
10.
GRCh37:
ChrX:49082423-49082443
GRCh38:
ChrX:49225961-49225981
CACNA1FCongenital stationary night blindness 2AUncertain significancecriteria provided, single submitter
11.
GRCh37:
ChrX:49077371
GRCh38:
ChrX:49220912
CACNA1FOcular albinism, type II, Congenital stationary night blindness 2A, X-linked cone-rod dystrophy 3
Benign
(Jul 14, 2021)
criteria provided, single submitter
12.
GRCh37:
ChrX:49074909
GRCh38:
ChrX:49218450
CACNA1FX-linked cone-rod dystrophy 3, Ocular albinism, type II, Congenital stationary night blindness 2A
Benign
(Jul 14, 2021)
criteria provided, single submitter
13.
GRCh37:
ChrX:49074296
GRCh38:
ChrX:49217837
CACNA1FX-linked cone-rod dystrophy 3, Ocular albinism, type II, Congenital stationary night blindness 2A
Benign
(Jul 14, 2021)
criteria provided, single submitter
14.
GRCh37:
ChrX:49074374
GRCh38:
ChrX:49217915
CACNA1FG1007R, G1018R, G953Rnot provided, Congenital stationary night blindness 2APathogenic/Likely pathogenic
(Apr 6, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
ChrX:49065789
GRCh38:
ChrX:49209329
CACNA1F, LOC126863257E1575A, E1629A, E1640ACongenital stationary night blindness 2A, not providedUncertain significance
(Jun 28, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
ChrX:49085729
GRCh38:
ChrX:49229267
CACNA1FCongenital stationary night blindness 2ALikely pathogenicno assertion criteria provided
17.
GRCh37:
ChrX:49062998
GRCh38:
ChrX:49206537
CACNA1FR1762*, R1816*, R1827*Congenital stationary night blindness 2APathogenicno assertion criteria provided
18.
GRCh37:
ChrX:49072896
GRCh38:
ChrX:49216436
CACNA1FV1007D, V1061D, V1072DCongenital stationary night blindness 2ALikely pathogenicno assertion criteria provided
19.
GRCh37:
ChrX:49079491
GRCh38:
ChrX:49223032
CACNA1FL607R, L661R, L672RCongenital stationary night blindness 2ALikely pathogenicno assertion criteria provided
20.
GRCh37:
ChrX:49081377
GRCh38:
ChrX:49224915
CACNA1FS521fs, S575fs, S586fsCongenital stationary night blindness 2APathogenicno assertion criteria provided
21.
GRCh37:
ChrX:49088170
GRCh38:
ChrX:49231708
CACNA1FR82QOcular albinism, type II, not providedConflicting interpretations of pathogenicity
(Dec 21, 2021)
criteria provided, conflicting interpretations
22.
GRCh37:
ChrX:49081414
GRCh38:
ChrX:49224952
CACNA1FCongenital stationary night blindness 2AUncertain significance
(Jan 1, 2019)
criteria provided, single submitter
23.
GRCh37:
ChrX:49061635
GRCh38:
ChrX:49205175
CACNA1FD1901N, D1955N, D1966NCongenital stationary night blindness 2A, not providedUncertain significance
(May 2, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
ChrX:49075829
GRCh38:
ChrX:49219370
CACNA1FV875E, V821E, V886ECongenital stationary night blindness 2AUncertain significance
(Jun 28, 2019)
criteria provided, single submitter
25.
GRCh37:
ChrX:49079537
GRCh38:
ChrX:49223078
CACNA1FA646T, A657T, A592Tnot provided, Congenital stationary night blindness 2AUncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
ChrX:49072925
GRCh38:
ChrX:49216465
CACNA1FW1051*, W1062*, W997*Retinal dystrophyLikely pathogenic
(Dec 20, 2018)
criteria provided, single submitter
27.
GRCh37:
ChrX:49066788
GRCh38:
ChrX:49210328
CACNA1F, LOC126863257R1467G, R1532G, R1521Gnot provided, Congenital stationary night blindness 2A, Retinal dystrophy
Conflicting interpretations of pathogenicity
(Jul 19, 2022)
criteria provided, conflicting interpretations
28.
GRCh37:
ChrX:49083398
GRCh38:
ChrX:49226936
CACNA1FCongenital stationary night blindness 2APathogenic
(May 4, 2022)
criteria provided, single submitter
29.
GRCh37:
ChrX:49069148
GRCh38:
ChrX:49212688
CACNA1FW1318*, W1253*, W1307*Congenital stationary night blindness, Congenital stationary night blindness 2APathogenic
(Jun 23, 2019)
no assertion criteria provided
30.
GRCh37:
ChrX:49084508
GRCh38:
ChrX:49228046
CACNA1FV370I, V305ICongenital stationary night blindness 2A, X-linked cone-rod dystrophy 3, Ocular albinism, type II,
not specified, not provided
Uncertain significance
(Aug 28, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
ChrX:49067064
GRCh38:
ChrX:49210604
CACNA1FR1502*, R1437*, R1491*Congenital stationary night blindness 2A, Cone/cone-rod dystrophyPathogenic
(Jul 24, 2023)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
ChrX:49071722
GRCh38:
ChrX:49215262
CACNA1FCongenital stationary night blindness 2A, X-linked cone-rod dystrophy 3, Ocular albinism, type II,
not provided
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
ChrX:49079540
GRCh38:
ChrX:49223081
CACNA1FI656F, I645F, I591FCongenital stationary night blindness 2A, X-linked cone-rod dystrophy 3Uncertain significanceno assertion criteria provided
34.
GRCh37:
ChrX:49082499
GRCh38:
ChrX:49226037
CACNA1FR519Q, R508Q, R454Qnot specified, Congenital stationary night blindness 2A, not provided
Benign/Likely benign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
ChrX:49086805
GRCh38:
ChrX:49230343
CACNA1FK232*, K167*Congenital stationary night blindness 2APathogenic
(Jan 1, 2016)
criteria provided, single submitter
36.
GRCh37:
ChrX:49076092
GRCh38:
ChrX:49219633
CACNA1FOcular albinism, type II, X-linked cone-rod dystrophy 3, Congenital stationary night blindness 2A,
CACNA1F-related condition, not provided
Pathogenic
(Sep 12, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
ChrX:49079179
GRCh38:
ChrX:49222720
CACNA1FN746T, N735T, N681TCongenital stationary night blindness 2A, Ocular albinism, type II, X-linked cone-rod dystrophy 3,
Congenital stationary night blindness 2A, not specified, not provided
Likely benign
(Jul 1, 2023)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
ChrX:49081260
GRCh38:
ChrX:49224798
CACNA1FR625*, R560*, R614*Congenital stationary night blindness 2A, X-linked cone-rod dystrophy 3, not provided
Pathogenic
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
ChrX:49081230
GRCh38:
ChrX:49224768
CACNA1FV635I, V570I, V624ICongenital stationary night blindness 2A, not specified, not provided
Conflicting interpretations of pathogenicity
(Aug 22, 2023)
criteria provided, conflicting interpretations
40.
GRCh37:
ChrX:49082487
GRCh38:
ChrX:49226025
CACNA1FR523H, R458H, R512HCongenital stationary night blindness 2A, Ocular albinism, type II, X-linked cone-rod dystrophy 3,
not provided
Benign/Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
ChrX:49075777
GRCh38:
ChrX:49219318
CACNA1Fnot specified, not provided, Congenital stationary night blindness 2A,
X-linked cone-rod dystrophy 3, Ocular albinism, type II
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
ChrX:49072944-49072945
GRCh38:
ChrX:49216484-49216485
CACNA1FL1056fs, L991fs, L1045fsCACNA1F-related condition, not provided, Congenital stationary night blindness 2A
Pathogenic
(Aug 24, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
ChrX:49066801
GRCh38:
ChrX:49210341
CACNA1F, LOC126863257F1463fs, F1517fs, F1528fsCongenital stationary night blindness 2APathogenic
(May 1, 2003)
no assertion criteria provided
44.
GRCh37:
ChrX:49075803
GRCh38:
ChrX:49219344
CACNA1FR830*, R884*, R895*Congenital stationary night blindness, not provided, Congenital stationary night blindness 2A
Pathogenic
(Jun 23, 2019)
no assertion criteria provided
45.
GRCh37:
ChrX:49074970
GRCh38:
ChrX:49218511
CACNA1FR958*, R904*, R969*Retinal dystrophy, not providedPathogenic
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
ChrX:49084510
GRCh38:
ChrX:49228048
CACNA1FG369D, G304DCongenital stationary night blindness 2APathogenic
(Jul 1, 1998)
no assertion criteria provided
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