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Items: 53

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:128841807
GRCh38:
Chr4:127920652
MFSD8not specifiedUncertain significance
(Feb 19, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr4:128841904
GRCh38:
Chr4:127920749
MFSD8not providedLikely pathogenic
(Jul 15, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr4:128841934
GRCh38:
Chr4:127920779
MFSD8not specifiedUncertain significance
(Jun 14, 2013)
criteria provided, single submitter
4.
GRCh37:
Chr4:128841991
GRCh38:
Chr4:127920836
MFSD8not specifiedUncertain significance
(Sep 16, 2014)
criteria provided, single submitter
5.
GRCh37:
Chr4:128842000
GRCh38:
Chr4:127920845
MFSD8not providedGMAF:0.00720(A)Benign
(Feb 20, 2013)
criteria provided, single submitter
6.
GRCh37:
Chr4:128842000
GRCh38:
Chr4:127920845
MFSD8not specifiedGMAF:0.00720(A)Benign
(May 21, 2012)
criteria provided, single submitter
7.
GRCh37:
Chr4:128842679
GRCh38:
Chr4:127921524
MFSD8not specifiedLikely benign
(Jun 19, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr4:128842718
GRCh38:
Chr4:127921563
MFSD8not specifiedGMAF:0.00240(C)Benign
(Jan 29, 2013)
criteria provided, single submitter
9.
GRCh37:
Chr4:128842742
GRCh38:
Chr4:127921587
MFSD8not specifiedGMAF:0.00040(A)Benign
(Mar 5, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr4:128842761
GRCh38:
Chr4:127921606
MFSD8not specifiedGO-ESP:0.07058(A)
GMAF:0.12280(A)
Benign/Likely benign
(Jun 5, 2013)
criteria provided, single submitter
11.
GRCh37:
Chr4:128842767
GRCh38:
Chr4:127921612
MFSD8not specifiedUncertain significance
(Dec 4, 2014)
criteria provided, single submitter
12.
GRCh37:
Chr4:128842849
GRCh38:
Chr4:127921694
MFSD8not specifiedUncertain significance
(Jun 10, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr4:128842855
GRCh38:
Chr4:127921700
MFSD8not specifiedUncertain significance
(Oct 27, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr4:128842876
GRCh38:
Chr4:127921721
MFSD8not specified, not providedGO-ESP:0.00146(G)
GMAF:0.03250(G)
Benign/Likely benign
(Apr 7, 2014)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr4:128842893
GRCh38:
Chr4:127921738
MFSD8not specifiedGMAF:0.00080(G)Uncertain significance
(Apr 2, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr4:128843074
GRCh38:
Chr4:127921919
MFSD8not specifiedUncertain significance
(Dec 11, 2012)
criteria provided, single submitter
17.
GRCh37:
Chr4:128843076
GRCh38:
Chr4:127921921
MFSD8not specified, not providedGMAF:0.00320(C)Benign
(Nov 13, 2014)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr4:128843111
GRCh38:
Chr4:127921956
MFSD8not specified, Macular dystrophy with central cone involvementGMAF:0.00040(G)Conflicting interpretations of pathogenicity
(Jan 8, 2015)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr4:128851834
GRCh38:
Chr4:127930679
MFSD8not specifiedUncertain significance
(Sep 23, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr4:128851896
GRCh38:
Chr4:127930741
MFSD8not specifiedUncertain significance
(Oct 18, 2012)
criteria provided, single submitter
21.
GRCh37:
Chr4:128851902
GRCh38:
Chr4:127930747
MFSD8not specifiedGMAF:0.00020(C)Uncertain significance
(Sep 19, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr4:128851941
GRCh38:
Chr4:127930786
MFSD8not specifiedUncertain significance
(Sep 22, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr4:128854140
GRCh38:
Chr4:127932985
MFSD8not specifiedUncertain significance
(Feb 22, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr4:128854171
GRCh38:
Chr4:127933016
MFSD8not specifiedUncertain significance
(Feb 21, 2014)
criteria provided, single submitter
25.
GRCh37:
Chr4:128859936
GRCh38:
Chr4:127938781
MFSD8Ceroid lipofuscinosis neuronal 7, not providedPathogenic
(Oct 3, 2013)
criteria provided, single submitter
26.
GRCh37:
Chr4:128859986
GRCh38:
Chr4:127938831
MFSD8not specifiedUncertain significance
(Aug 29, 2012)
criteria provided, single submitter
27.
GRCh37:
Chr4:128859998
GRCh38:
Chr4:127938843
MFSD8not providedLikely pathogenic
(Dec 19, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr4:128861029
GRCh38:
Chr4:127939874
MFSD8not specifiedGMAF:0.00080(G)Uncertain significance
(Nov 21, 2013)
criteria provided, single submitter
29.
GRCh37:
Chr4:128861050
GRCh38:
Chr4:127939895
MFSD8not specified, not providedGMAF:0.00060(G)Conflicting interpretations of pathogenicity
(Nov 21, 2014)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr4:128861054
GRCh38:
Chr4:127939899
MFSD8not specifiedUncertain significance
(Jun 11, 2012)
criteria provided, single submitter
31.
GRCh37:
Chr4:128861107
GRCh38:
Chr4:127939952
MFSD8not providedGMAF:0.00020(A)Pathogenic
(Feb 13, 2014)
criteria provided, single submitter
32.
GRCh37:
Chr4:128861116
GRCh38:
Chr4:127939961
MFSD8not specifiedGMAF:0.00140(T)Uncertain significance
(Jul 7, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr4:128861133
GRCh38:
Chr4:127939978
MFSD8not specifiedGO-ESP:0.01377(C)
GMAF:0.00280(C)
Benign
(Oct 1, 2013)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr4:128863180
GRCh38:
Chr4:127942025
MFSD8not specifiedGMAF:0.00280(A)Benign
(Jun 13, 2013)
criteria provided, single submitter
35.
GRCh37:
Chr4:128863311
GRCh38:
Chr4:127942156
MFSD8not providedLikely pathogenic
(Sep 16, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr4:128864984
GRCh38:
Chr4:127943829
MFSD8Ceroid lipofuscinosis neuronal 7, not providedPathogenic
(Jan 8, 2015)
criteria provided, single submitter
37.
GRCh37:
Chr4:128864996
GRCh38:
Chr4:127943841
MFSD8not specifiedUncertain significance
(Sep 16, 2014)
criteria provided, single submitter
38.
GRCh37:
Chr4:128865003
GRCh38:
Chr4:127943848
MFSD8not specifiedGMAF:0.00040(T)Uncertain significance
(Dec 19, 2012)
criteria provided, single submitter
39.
GRCh37:
Chr4:128865055
GRCh38:
Chr4:127943900
MFSD8not specifiedUncertain significance
(Nov 3, 2014)
criteria provided, single submitter
40.
GRCh37:
Chr4:128865069
GRCh38:
Chr4:127943914
MFSD8not specifiedLikely benign
(Mar 19, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr4:128865129
GRCh38:
Chr4:127943974
MFSD8not providedPathogenic
(Oct 28, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr4:128865135
GRCh38:
Chr4:127943980
MFSD8not specifiedUncertain significance
(Jul 29, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr4:128865140
GRCh38:
Chr4:127943985
MFSD8not specifiedGMAF:0.00040(A)Uncertain significance
(Nov 2, 2012)
criteria provided, single submitter
44.
GRCh37:
Chr4:128865155
GRCh38:
Chr4:127944000
MFSD8not specifiedGMAF:0.00520(G)Benign
(Jan 4, 2013)
criteria provided, single submitter
45.
GRCh37:
Chr4:128871017
GRCh38:
Chr4:127949862
MFSD8not specifiedGMAF:0.00020(G)Benign
(Aug 5, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr4:128878657
GRCh38:
Chr4:127957502
MFSD8not providedBenign
(May 19, 2014)
criteria provided, single submitter
47.
GRCh37:
Chr4:128878695
GRCh38:
Chr4:127957540
MFSD8not specifiedUncertain significance
(Jul 24, 2014)
criteria provided, single submitter
48.
GRCh37:
Chr4:128878744
GRCh38:
Chr4:127957589
MFSD8not specified, not providedGO-ESP:0.00808(A)
GMAF:0.00720(A)
Conflicting interpretations of pathogenicity
(Aug 27, 2013)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr4:128886255
GRCh38:
Chr4:127965100
MFSD8not specifiedUncertain significance
(Oct 16, 2014)
criteria provided, single submitter
50.
GRCh37:
Chr4:128886285
GRCh38:
Chr4:127965130
MFSD8not providedLikely pathogenic
(Aug 11, 2014)
criteria provided, single submitter
51.
GRCh37:
Chr4:128886309
GRCh38:
Chr4:127965154
MFSD8not specifiedUncertain significance
(Oct 24, 2014)
criteria provided, single submitter
52.
GRCh37:
Chr4:128886346
GRCh38:
Chr4:127965191
MFSD8not specifiedLikely benign
(Jan 8, 2013)
criteria provided, single submitter
53.
GRCh37:
Chr4:128886365
GRCh38:
Chr4:127965210
MFSD8not specifiedUncertain significance
(Jun 9, 2014)
criteria provided, single submitter
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