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Items: 34

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Nov 1, 2003)
no assertion criteria provided
2.
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Nov 1, 2003)
no assertion criteria provided
3.
GRCh37:
Chr5:77311340-77311342
GRCh38:
Chr5:78015516-78015518
AP3B1not specifiedGMAF:0.04090(-)Benign
(Dec 9, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr5:77311370
GRCh38:
Chr5:78015546
AP3B1not specifiedGMAF:0.00160(T)Likely benign
(May 8, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr5:77334974
GRCh38:
Chr5:78039150
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Jan 1, 2016)
no assertion criteria provided
6.
GRCh37:
Chr5:77335003
GRCh38:
Chr5:78039179
AP3B1not specifiedUncertain significance
(May 26, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr5:77335015
GRCh38:
Chr5:78039191
AP3B1not specifiedGMAF:0.00660(T)Likely benign
(Jul 28, 2015)
criteria provided, single submitter
8.
GRCh37:
Chr5:77335063
GRCh38:
Chr5:78039239
AP3B1not specifiedGMAF:0.00260(A)Benign/Likely benign
(Jun 25, 2015)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr5:77385222
GRCh38:
Chr5:78089398
AP3B1not specifiedUncertain significance
(Aug 12, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr5:77396836-77396838
GRCh38:
Chr5:78101012-78101014
AP3B1not specifiedGMAF:0.00640(-)Benign
(Apr 10, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr5:77411985
GRCh38:
Chr5:78116161
AP3B1not providedGMAF:0.00420(C)Likely benign
(Dec 22, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr5:77412011
GRCh38:
Chr5:78116187
AP3B1not specifiedGMAF:0.18890(G)Benign
(Feb 21, 2013)
criteria provided, single submitter
13.
GRCh37:
Chr5:77412052
GRCh38:
Chr5:78116228
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Oct 11, 2012)
no assertion criteria provided
14.
GRCh37:
Chr5:77412068
GRCh38:
Chr5:78116244
AP3B1not specifiedGMAF:0.03610(T)Benign
(Feb 21, 2013)
criteria provided, single submitter
15.
GRCh37:
Chr5:77423889
GRCh38:
Chr5:78128065
AP3B1not specifiedUncertain significance
(May 26, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr5:77423980-77423983
GRCh38:
Chr5:78128156-78128159
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Jan 1, 2016)
no assertion criteria provided
17.
GRCh37:
Chr5:77424968
GRCh38:
Chr5:78129144
AP3B1not specifiedUncertain significance
(Dec 10, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr5:77425028
GRCh38:
Chr5:78129204
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Jan 1, 2016)
no assertion criteria provided
19.
GRCh37:
Chr5:77425028
GRCh38:
Chr5:78129204
AP3B1not specifiedBenign
(Feb 21, 2013)
criteria provided, single submitter
20.
GRCh37:
Chr5:77425043
GRCh38:
Chr5:78129219
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Oct 11, 2012)
no assertion criteria provided
21.
GRCh37:
Chr5:77425099
GRCh38:
Chr5:78129275
AP3B1not specifiedGMAF:0.03420(A)Benign
(Feb 21, 2013)
criteria provided, single submitter
22.
GRCh37:
Chr5:77436046-77444215
GRCh38:
Chr5:78140222-78148391
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Oct 11, 2012)
no assertion criteria provided
23.
GRCh37:
Chr5:77437091
GRCh38:
Chr5:78141267
AP3B1Malignant tumor of prostateUncertain significanceno assertion criteria provided
24.
GRCh37:
Chr5:77437092
GRCh38:
Chr5:78141268
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Oct 11, 2012)
no assertion criteria provided
25.
GRCh37:
Chr5:77458689
GRCh38:
Chr5:78162865
AP3B1not specifiedGMAF:0.00280(C)Benign
(Feb 21, 2013)
criteria provided, single submitter
26.
GRCh37:
Chr5:77461434-77461496
GRCh38:
Chr5:78165610-78165672
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Oct 11, 2012)
no assertion criteria provided
27.
GRCh37:
Chr5:77473165
GRCh38:
Chr5:78177341
AP3B1not specifiedGMAF:0.14280(G)Benign
(Jun 13, 2013)
criteria provided, single submitter
28.
GRCh37:
Chr5:77477369
GRCh38:
Chr5:78181545
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Jul 1, 2006)
no assertion criteria provided
29.
GRCh37:
Chr5:77511949
GRCh38:
Chr5:78216125
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Jan 1, 2016)
no assertion criteria provided
30.
GRCh37:
Chr5:77511978
GRCh38:
Chr5:78216154
AP3B1not specifiedGMAF:0.01740(C)Benign
(Feb 21, 2013)
criteria provided, single submitter
31.
GRCh37:
Chr5:77524004
GRCh38:
Chr5:78228180
AP3B1not specifiedGMAF:0.01720(G)Benign
(Feb 21, 2013)
criteria provided, single submitter
32.
GRCh37:
Chr5:77563371
GRCh38:
Chr5:78267547
AP3B1Hermansky Pudlak syndrome 2Pathogenic
(Jan 1, 2016)
no assertion criteria provided
33.
GRCh37:
Chr5:76313934-77485892
GRCh38:
Chr5:77018109-78190068
TBCA, AP3B1, PDE8B, OTP, AGGF1, WDR41, ZBED3, SNORA47, ZBED3-AS1, LOC101929154See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
34.
GRCh37:
Chr5:73459011-110145153
GRCh38:
Chr5:74163186-110809453
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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