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Items: 25

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:23242811
GRCh38:
Chr14:22773602
SLC7A7not specifiedLikely benign
(Dec 8, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr14:23242828
GRCh38:
Chr14:22773619
SLC7A7Lysinuric protein intolerance, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr14:23243290
GRCh38:
Chr14:22774081
SLC7A7not specifiedLikely benign
(Apr 21, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr14:23243578
GRCh38:
Chr14:22774369
SLC7A7not specifiedLikely benign
(Nov 25, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr14:23244749
GRCh38:
Chr14:22775540
SLC7A7not specifiedUncertain significance
(Apr 6, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr14:23245074
GRCh38:
Chr14:22775865
SLC7A7not specifiedLikely benign
(Feb 17, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr14:23245503
GRCh38:
Chr14:22776294
SLC7A7not specifiedLikely benign
(Jan 27, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr14:23248052
GRCh38:
Chr14:22778843
SLC7A7Lysinuric protein intolerance, not specifiedConflicting interpretations of pathogenicity
(Aug 1, 2017)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr14:23248091
GRCh38:
Chr14:22778882
SLC7A7not specifiedLikely benign
(Nov 2, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr14:23248112
GRCh38:
Chr14:22778903
SLC7A7Lysinuric protein intolerance, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr14:23282110
GRCh38:
Chr14:22812901
SLC7A7Lysinuric protein intolerance, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr14:23282132
GRCh38:
Chr14:22812923
SLC7A7not specifiedUncertain significance
(Oct 23, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr14:23282133
GRCh38:
Chr14:22812924
SLC7A7Lysinuric protein intolerance, not providedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr14:23282152
GRCh38:
Chr14:22812943
SLC7A7Lysinuric protein intolerance, not specifiedBenign/Likely benign
(Aug 7, 2017)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr14:23282247-23282248
GRCh38:
Chr14:22813038-22813039
SLC7A7not specifiedUncertain significance
(Mar 28, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr14:23282269
GRCh38:
Chr14:22813060
SLC7A7Lysinuric protein intolerance, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr14:23282336
GRCh38:
Chr14:22813127
SLC7A7Lysinuric protein intolerance, not specifiedBenign
(May 26, 2017)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr14:23282374
GRCh38:
Chr14:22813165
SLC7A7Lysinuric protein intolerance, not specifiedConflicting interpretations of pathogenicity
(Nov 9, 2017)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr14:23282449
GRCh38:
Chr14:22813240
SLC7A7Lysinuric protein intolerance, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr14:23282512
GRCh38:
Chr14:22813303
SLC7A7not specifiedBenign
(Aug 14, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr14:23282625
GRCh38:
Chr14:22813416
SLC7A7Lysinuric protein intolerance, not specifiedConflicting interpretations of pathogenicity
(May 3, 2017)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr14:23284648
GRCh38:
Chr14:22815439
SLC7A7not specifiedLikely benign
(Nov 2, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr14:23285030-23285031
GRCh38:
Chr14:22815821-22815822
SLC7A7not specifiedLikely benign
(Aug 11, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr14:19794561-27768254
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr14:20468770-39453619
GRCh38:
Chr14:20000611-38984415
ANG, APEX1, ARHGAP5, BCL2L2, CEBPE, CFL2, CMA1, LTB4R, CTSG, DAD1, COCH, FOXG1, GPR33, GZMH, GZMB, FOXA1, HNRNPC, MMP14, MYH6, MYH7, NEDD8, NFATC4, NFKBIA, NOVA1, PNP, NRL, OXA1L, PAX9, PCK2, PRKD1, PSMA6, PSMB5, PSME1, PSME2, RABGGTA, RNASE1, RNASE2, RNASE3, RNASE4, RNASE6, SALL2, SRP54, SSTR1, TRA, TRAV6, TRD, TEP1, TGM1, NKX2-1, TRL-AAG2-3, TRP-AGG2-5, TRP-AGG2-6, TRT-TGT3-1, PABPN1, AP1G2, SLC7A7, CPNE6, AKAP6, KIAA0391, TOX4, REC8, PARP2, DHRS2, EFS, IRF9, PRMT5, TM9SF1, EDDM3A, DHRS4, RIPK3, AP4S1, BAZ1A, SUPT16H, ACIN1, SCFD1, KHNYN, SLC7A8, HECTD1, HEATR5A, NGDN, LRP10, NKX2-8, TINF2, OR10G3, OR10G2, OR4E2, OR4E1, CIDEB, TRDV3, TRDV2, TRDV1, TRDJ4, TRDJ3, TRDJ2, TRDJ1, TRDD3, TRDD2, TRDD1, TRDC, TRAV41, TRAV40, TRAV39, TRAV38-2DV8, TRAV38-1, TRAV36DV7, TRAV35, TRAV34, TRAV30, TRAV29DV5, TRAV27, TRAV26-2, TRAV26-1, TRAV25, TRAV24, TRAV23DV6, TRAV22, TRAV21, TRAV20, TRAV19, TRAV18, TRAV17, TRAV16, TRAV14DV4, TRAV13-2, TRAV13-1, TRAV12-3, TRAV12-2, TRAV12-1, TRAV10, TRAV9-2, TRAV9-1, TRAV8-7, TRAV8-6, TRAV8-4, TRAV8-3, TRAV8-2, TRAV8-1, TRAV7, TRAV5, TRAV4, TRAV3, TRAV2, TRAV1-2, TRAV1-1, TRAJ61, TRAJ59, TRAJ58, TRAJ57, TRAJ56, TRAJ54, TRAJ53, TRAJ52, TRAJ50, TRAJ49, TRAJ48, TRAJ47, TRAJ46, TRAJ45, TRAJ44, TRAJ43, TRAJ42, TRAJ41, TRAJ40, TRAJ39, TRAJ38, TRAJ37, TRAJ36, TRAJ35, TRAJ34, TRAJ33, TRAJ32, TRAJ31, TRAJ30, TRAJ29, TRAJ28, TRAJ27, TRAJ26, TRAJ25, TRAJ24, TRAJ23, TRAJ22, TRAJ21, TRAJ20, TRAJ19, TRAJ18, TRAJ17, TRAJ16, TRAJ15, TRAJ14, TRAJ13, TRAJ12, TRAJ11, TRAJ10, TRAJ9, TRAJ8, TRAJ7, TRAJ6, TRAJ5, TRAJ4, TRAJ3, TRAJ2, TRAJ1, TRAC, CHMP4A, STXBP6, STRN3, SLC39A2, EMC9, ZNF219, GMPR2, SLC22A17, MBIP, HAUS4, PPP2R3C, C14orf119, RNF31, RBM23, DHRS4-AS1, G2E3, OSGEP, ARHGEF40, EAPP, METTL3, LTB4R2, SDR39U1, RPGRIP1, NDRG2, NYNRIN, HOMEZ, CHD8, CCNB1IP1, SNX6, C14orf93, ABHD4, NPAS3, EDDM3B, CDH24, METTL17, IL25, THTPA, OR6J1, IPO4, NUBPL, DCAF11, BRMS1L, JPH4, RNASE7, INSM2, ARHGAP5-AS1, RAB2B, AJUBA, ZFHX2, RPPH1, SLC25A21, CARMIL3, PPP1R3E, PIP4P1, TTC5, EGLN3, DTD2, DHRS1, CMTM5, RNASE11, TPPP2, RNASE8, MRPL52, PSMB11, OR4K14, OR4L1, OR11H6, KLHL33, MIPOL1, MDP1, CLEC14A, FITM1, REM2, NOP9, SPTSSA, ADCY4, RALGAPA1, SFTA3, LOC254028, LINC00639, LINC00641, TSSK4, FAM177A1, DHRS4L2, TTC6, SNORD8, RNASE10, OR6S1, LINC01551, OR4Q2, OR4K13, OR4K17, OR4N5, OR11G2, OR11H7, OR11H4, RNASE9, OR5AU1, LINC00517, MIR208A, LINC00596, RNASE13, RNASE12, TMEM253, CBLN3, SNORD9, MIR624, DHRS4L1, LOC728755, TRY-GTA7-1, TRY-GTA5-4, SNORD126, MIR208B, LMLN2, SLC25A21-AS1, TRY-GTA5-5, TRP-TGG3-2, TRL-TAG2-1, TRR-ACG1-3, TRT-TGT5-1, TRP-TGG1-1, TRY-GTA4-1, TRT-TGT4-1, TRY-GTA5-3, MIR3171, MIR4307, PRMT5-AS1, LINC00645, LOC100506071, SRP54-AS1, NKX2-1-AS1, RNF212B, NEDD8-MDP1, BCL2L2-PABPN1, MIR4503, MIR4707, PTCSC3, LINC00609, LOC101926933, LOC101927045, LINC02294, MIR4307HG, LOC101927124, LOC101927178, LOC101929718, RNU6-7, RNU6-8, MIR6717, MIR7703, LOC102724814, LINC00596, LINC02293, LINC02327, NOVA1-AS1, FOXG1-AS1, MHRT, LINC02332, LOC105370401, LINC02286, LINC02300, LINC02281, LINC02282, LINC02326, G2E3-AS1, LINC02313, EGLN3-AS1, LOC105370457, SNORA89, SNORA101B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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