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Results: 16

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:35466243
GRCh38:
Chr6:35498466
TULP1not providedGO-ESP:0.00015(T)not providedno assertion provided
2.
GRCh37:
Chr6:35467757
GRCh38:
Chr6:35499980
TULP1not providednot providedno assertion provided
3.
GRCh37:
Chr6:35467767
GRCh38:
Chr6:35499990
TULP1not providedGO-ESP:0.00062(T)
GMAF:0.00140(T)
not providedno assertion provided
4.
GRCh37:
Chr6:35467787
GRCh38:
Chr6:35500010
TULP1not providednot providedno assertion provided
5.
GRCh37:
Chr6:35467878
GRCh38:
Chr6:35500101
TULP1not providednot providedno assertion provided
6.
GRCh37:
Chr6:35467891
GRCh38:
Chr6:35500114
TULP1not providedGO-ESP:0.03990(T)
GMAF:0.02480(T)
not providedno assertion provided
7.
GRCh37:
Chr6:35471400
GRCh38:
Chr6:35503623
TULP1Retinitis pigmentosa 14, not providedPathogenic
(Dec 13, 2012)
no assertion criteria provided
8.
GRCh37:
Chr6:35473882
GRCh38:
Chr6:35506105
TULP1not providednot providedno assertion provided
9.
GRCh37:
Chr6:35474060
GRCh38:
Chr6:35506283
TULP1not providedGMAF:0.00020(C)not providedno assertion provided
10.
GRCh37:
Chr6:35477003
GRCh38:
Chr6:35509226
TULP1not providednot providedno assertion provided
11.
GRCh37:
Chr6:35477032
GRCh38:
Chr6:35509255
TULP1not specified, not providedGO-ESP:0.36552(G)
GMAF:0.39400(G)
Benign
(Apr 3, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr6:35477074
GRCh38:
Chr6:35509297
TULP1not providednot providedno assertion provided
13.
GRCh37:
Chr6:35477108
GRCh38:
Chr6:35509331
TULP1not providednot providedno assertion provided
14.
GRCh37:
Chr6:35478754-35478777
GRCh38:
Chr6:35510977-35511000
TULP1not providednot providedno assertion provided
15.
GRCh37:
Chr6:35478787-35478789
GRCh38:
Chr6:35511010-35511012
TULP1not providednot providedno assertion provided
16.
GRCh37:
Chr6:35480415
GRCh38:
Chr6:35512638
TULP1not providednot providedno assertion provided

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