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Items: 1 to 100 of 107

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr6:50938895-57297586
GRCh38:
Chr6:50971182-57432788
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000145584
2.
GRCh37:
Chr6:53796341-68859642
GRCh38:
Chr6:53931543-68149750
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000148002
3.
GRCh37:
Chr6:56177722-57171010
GRCh38:
Chr6:56312924-57306212
DST, BAG2, ZNF451, RAB23, KIAA1586, COL21A1, BEND6, LOC100506188, ZNF451-AS1, DST-AS1See casesUncertain significance
(Dec 30, 2009)
no assertion criteria providedVCV000144369
4.
GRCh37:
Chr6:56504480-57297586
GRCh38:
Chr6:56639682-57432788
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria providedVCV000146506
5.
GRCh37:
Chr6:57051929
GRCh38:
Chr6:57187131
BAG2, RAB23Carpenter syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000908519
6.
GRCh37:
Chr6:57051961
GRCh38:
Chr6:57187163
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000908520
7.
GRCh37:
Chr6:57052070
GRCh38:
Chr6:57187272
BAG2, RAB23Carpenter syndrome 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000908521
8.
GRCh37:
Chr6:57052130
GRCh38:
Chr6:57187332
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000908522
9.
GRCh37:
Chr6:57052226
GRCh38:
Chr6:57187428
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000909365
10.
GRCh37:
Chr6:57052383
GRCh38:
Chr6:57187585
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000909366
11.
GRCh37:
Chr6:57052490
GRCh38:
Chr6:57187692
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000909367
12.
GRCh37:
Chr6:57052506
GRCh38:
Chr6:57187708
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Feb 9, 2018)
criteria provided, single submitterVCV000909368
13.
GRCh37:
Chr6:57052578
GRCh38:
Chr6:57187780
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000909369
14.
GRCh37:
Chr6:57052673
GRCh38:
Chr6:57187875
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000909370
15.
GRCh37:
Chr6:57052774
GRCh38:
Chr6:57187976
BAG2, RAB23Carpenter syndrome 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000909371
16.
GRCh37:
Chr6:57052834
GRCh38:
Chr6:57188036
BAG2, RAB23Carpenter syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000909372
17.
GRCh37:
Chr6:57052918
GRCh38:
Chr6:57188120
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000910330
18.
GRCh37:
Chr6:57052940
GRCh38:
Chr6:57188142
RAB23, BAG2Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000910331
19.
GRCh37:
Chr6:57052986
GRCh38:
Chr6:57188188
BAG2, RAB23Carpenter syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000910332
20.
GRCh37:
Chr6:57053014
GRCh38:
Chr6:57188216
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000910333
21.
GRCh37:
Chr6:57053192
GRCh38:
Chr6:57188394
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000910334
22.
GRCh37:
Chr6:57053251
GRCh38:
Chr6:57188453
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000910335
23.
GRCh37:
Chr6:57053442
GRCh38:
Chr6:57188644
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000910336
24.
GRCh37:
Chr6:57053519
GRCh38:
Chr6:57188721
BAG2, RAB23Carpenter syndrome 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000910337
25.
GRCh37:
Chr6:57053553
GRCh38:
Chr6:57188755
BAG2, RAB23Carpenter syndrome 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000911545
26.
GRCh37:
Chr6:57053591-57053592
GRCh38:
Chr6:57188793-57188794
BAG2, RAB23Carpenter syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357625
27.
GRCh37:
Chr6:57053723
GRCh38:
Chr6:57188925
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000911546
28.
GRCh37:
Chr6:57053725
GRCh38:
Chr6:57188927
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000911547
29.
GRCh37:
Chr6:57053765
GRCh38:
Chr6:57188967
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000911548
30.
GRCh37:
Chr6:57053947
GRCh38:
Chr6:57189149
RAB23, BAG2Carpenter syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000357626
31.
GRCh37:
Chr6:57054008
GRCh38:
Chr6:57189210
BAG2, RAB23Carpenter syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357627
32.
GRCh37:
Chr6:57054071-57054072
GRCh38:
Chr6:57189273-57189274
RAB23, BAG2Carpenter syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357628
33.
GRCh37:
Chr6:57054128
GRCh38:
Chr6:57189330
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000908590
34.
GRCh37:
Chr6:57054207
GRCh38:
Chr6:57189409
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000908591
35.
GRCh37:
Chr6:57054275
GRCh38:
Chr6:57189477
BAG2, RAB23Carpenter syndrome 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000357629
36.
GRCh37:
Chr6:57054339
GRCh38:
Chr6:57189541
BAG2, RAB23Carpenter syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357630
37.
GRCh37:
Chr6:57054409
GRCh38:
Chr6:57189611
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000908592
38.
GRCh37:
Chr6:57054448
GRCh38:
Chr6:57189650
BAG2, RAB23Carpenter syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000357631
39.
GRCh37:
Chr6:57054464
GRCh38:
Chr6:57189666
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000909447
40.
GRCh37:
Chr6:57054524
GRCh38:
Chr6:57189726
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357632
41.
GRCh37:
Chr6:57054537
GRCh38:
Chr6:57189739
BAG2, RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357633
42.
GRCh37:
Chr6:57054582
GRCh38:
Chr6:57189784
BAG2, RAB23Carpenter syndrome 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000909448
43.
GRCh37:
Chr6:57054641
GRCh38:
Chr6:57189843
RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357634
44.
GRCh37:
Chr6:57054652-57054655
GRCh38:
Chr6:57189854-57189857
RAB23Carpenter syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357635
45.
GRCh37:
Chr6:57054715
GRCh38:
Chr6:57189917
RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357636
46.
GRCh37:
Chr6:57054843
GRCh38:
Chr6:57190045
RAB23Carpenter syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000357637
47.
GRCh37:
Chr6:57055114
GRCh38:
Chr6:57190316
RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357638
48.
GRCh37:
Chr6:57055142
GRCh38:
Chr6:57190344
RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000910395
49.
GRCh37:
Chr6:57055178
GRCh38:
Chr6:57190380
RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000910396
50.
GRCh37:
Chr6:57055259
GRCh38:
Chr6:57190461
RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357639
51.
GRCh37:
Chr6:57055303
GRCh38:
Chr6:57190505
RAB23T224SCarpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000910397
52.
GRCh37:
Chr6:57055309
GRCh38:
Chr6:57190511
RAB23Q222ECarpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000910398
53.
GRCh37:
Chr6:57055354
GRCh38:
Chr6:57190556
RAB23G207SCarpenter syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000357640
54.
GRCh37:
Chr6:57055357
GRCh38:
Chr6:57190559
RAB23S206TCarpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357641
55.
GRCh37:
Chr6:57055402-57055403
GRCh38:
Chr6:57190604-57190605
RAB23not providedLikely benign
(Oct 3, 2018)
criteria provided, single submitterVCV000754505
56.
GRCh37:
Chr6:57058662
GRCh38:
Chr6:57193864
RAB23Carpenter syndrome, Carpenter syndrome 1Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000701813
57.
GRCh37:
Chr6:57058678
GRCh38:
Chr6:57193880
RAB23E179ACarpenter syndrome, Carpenter syndrome 1Conflicting interpretations of pathogenicity
(Jan 3, 2020)
criteria provided, conflicting interpretationsVCV000357642
58.
GRCh37:
Chr6:57058680
GRCh38:
Chr6:57193882
RAB23Carpenter syndromeBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000738344
59.
GRCh37:
Chr6:57058685
GRCh38:
Chr6:57193887
RAB23I177Lnot specifiedUncertain significance
(Aug 10, 2015)
criteria provided, single submitterVCV000436457
60.
GRCh37:
Chr6:57058707
GRCh38:
Chr6:57193909
RAB23Carpenter syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000797341
61.
GRCh37:
Chr6:57059558
GRCh38:
Chr6:57194760
RAB23Carpenter syndrome 1Uncertain significance
(Aug 7, 2020)
no assertion criteria providedVCV000989996
62.
GRCh37:
Chr6:57059559
GRCh38:
Chr6:57194761
RAB23not providedLikely benign
(Jul 31, 2018)
criteria provided, single submitterVCV000761083
63.
GRCh37:
Chr6:57059563
GRCh38:
Chr6:57194765
RAB23Carpenter syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000463375
64.
GRCh37:
Chr6:57059568
GRCh38:
Chr6:57194770
RAB23V161LCarpenter syndromePathogenic
(Apr 15, 2017)
no assertion criteria providedVCV000417740
65.
GRCh37:
Chr6:57059615
GRCh38:
Chr6:57194817
RAB23L145*Carpenter syndrome, Inborn genetic diseases, not provided,
Carpenter syndrome 1
Pathogenic
(Nov 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000004591
66.
GRCh37:
Chr6:57059633
GRCh38:
Chr6:57194835
RAB23L139PCarpenter syndrome 1Uncertain significancecriteria provided, single submitterVCV000638057
67.
GRCh37:
Chr6:57059640-57059641
GRCh38:
Chr6:57194842-57194843
RAB23E137*Carpenter syndrome 1Pathogenic
(Jun 1, 2007)
no assertion criteria providedVCV000004592
68.
GRCh37:
Chr6:57059664
GRCh38:
Chr6:57194866
RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000911608
69.
GRCh37:
Chr6:57061239
GRCh38:
Chr6:57196441
RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000357643
70.
GRCh37:
Chr6:57061257
GRCh38:
Chr6:57196459
RAB23C130SCarpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000911609
71.
GRCh37:
Chr6:57061259
GRCh38:
Chr6:57196461
RAB23not providedLikely benign
(Sep 13, 2018)
criteria provided, single submitterVCV000766617
72.
GRCh37:
Chr6:57061309
GRCh38:
Chr6:57196511
RAB23D113NCarpenter syndrome 1Uncertain significance
(May 4, 2018)
criteria provided, single submitterVCV000566458
73.
GRCh37:
Chr6:57061345
GRCh38:
Chr6:57196547
RAB23S101Anot provided, Carpenter syndromeConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000357644
74.
GRCh37:
Chr6:57061391
GRCh38:
Chr6:57196593
RAB23Carpenter syndrome 1, not providedLikely benign
(Oct 8, 2018)
criteria provided, single submitterVCV000728362
75.
GRCh37:
Chr6:57061402
GRCh38:
Chr6:57196604
RAB23A82PCarpenter syndromeUncertain significance
(Oct 31, 2019)
criteria provided, single submitterVCV000858703
76.
GRCh37:
Chr6:57061415-57061416
GRCh38:
Chr6:57196617-57196618
RAB23Carpenter syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000357645
77.
GRCh37:
Chr6:57072428
GRCh38:
Chr6:57207630
RAB23R80QCarpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000070495
78.
GRCh37:
Chr6:57072444
GRCh38:
Chr6:57207646
RAB23T75SCarpenter syndrome 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000908656
79.
GRCh37:
Chr6:57072445
GRCh38:
Chr6:57207647
RAB23Carpenter syndrome 1Uncertain significance
(Aug 14, 2020)
no assertion criteria providedVCV000989997
80.
GRCh37:
Chr6:57072449
GRCh38:
Chr6:57207651
RAB23A73VCarpenter syndrome 1, Carpenter syndrome, not specified
Conflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000211976
81.
GRCh37:
Chr6:57072496
GRCh38:
Chr6:57207698
RAB23Carpenter syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000714470
82.
GRCh37:
Chr6:57072519
GRCh38:
Chr6:57207721
RAB23not providedLikely benign
(Jul 23, 2018)
criteria provided, single submitterVCV000759142
83.
GRCh37:
Chr6:57072520
GRCh38:
Chr6:57207722
RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000908657
84.
GRCh37:
Chr6:57075037
GRCh38:
Chr6:57210239
RAB23E48*Carpenter syndromePathogenic
(Sep 25, 2019)
criteria provided, single submitterVCV000963114
85.
GRCh37:
Chr6:57075056
GRCh38:
Chr6:57210258
RAB23Carpenter syndrome 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000908658
86.
GRCh37:
Chr6:57075086
GRCh38:
Chr6:57210288
RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000908659
87.
GRCh37:
Chr6:57075089
GRCh38:
Chr6:57210291
RAB23C30WCarpenter syndromeUncertain significance
(May 16, 2019)
criteria provided, single submitterVCV000934995
88.
GRCh37:
Chr6:57075092-57075093
GRCh38:
Chr6:57210294-57210295
RAB23Y29*Carpenter syndrome 1Pathogenic
(Apr 1, 2010)
no assertion criteria providedVCV000018426
89.
GRCh37:
Chr6:57075097
GRCh38:
Chr6:57210299
RAB23R28*Carpenter syndrome 1, Carpenter syndrome, not provided
Conflicting interpretations of pathogenicity
(Jul 5, 2019)
criteria provided, conflicting interpretationsVCV000280858
90.
GRCh37:
Chr6:57075125
GRCh38:
Chr6:57210327
RAB23Carpenter syndrome 1, Carpenter syndromeConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000772095
91.
GRCh37:
Chr6:57075131
GRCh38:
Chr6:57210333
RAB23Carpenter syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000745096
92.
GRCh37:
Chr6:57075154
GRCh38:
Chr6:57210356
RAB23A9TCarpenter syndrome 1Uncertain significance
(Oct 2, 2017)
criteria provided, single submitterVCV000532184
93.
GRCh37:
Chr6:57075162
GRCh38:
Chr6:57210364
RAB23M6fsCarpenter syndromePathogenic
(Sep 30, 2019)
criteria provided, single submitterVCV000954806
94.
GRCh37:
Chr6:57075164
GRCh38:
Chr6:57210366
RAB23not providedLikely benign
(Jun 16, 2017)
criteria provided, single submitterVCV000780639
95.
GRCh37:
Chr6:57075174
GRCh38:
Chr6:57210376
RAB23L2fsCarpenter syndromePathogenic
(Oct 1, 2018)
criteria provided, single submitterVCV000664887
96.
GRCh37:
Chr6:57075175
GRCh38:
Chr6:57210377
RAB23not providedLikely benign
(Nov 10, 2018)
criteria provided, single submitterVCV000794350
97.
GRCh37:
Chr6:57075201
GRCh38:
Chr6:57210403
RAB23Carpenter syndrome 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000357646
98.
GRCh37:
Chr6:57075227
GRCh38:
Chr6:57210429
RAB23Carpenter syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000357647
99.
GRCh37:
Chr6:57051780-57087122
RAB23Carpenter syndromePathogenic
(Oct 4, 2019)
criteria provided, single submitterVCV000832125
100.
GRCh37:
Chr6:29455465-81447367
ABCF1, CRISP1, AGER, AIF1, ATP6V1G2, ADGRB3, BAK1, BCKDHB, CFB, BMP5, BYSL, C2, C4A, C4B, DDR1, RUNX2, CCND3, CDC5L, CDKN1A, CDSN, CLIC1, CLPS, COL9A1, COL11A2, COL12A1, COL19A1, COX7A2, ATF6B, MAPK14, CSNK2B, EEF1A1, CYP21A2, DAXX, DNAH8, DXO, SLC29A1, FANCE, FKBP5, GABBR1, GCLC, GLO1, GLP1R, GNL1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GTF2H4, GUCA1A, GUCA1B, HCRTR2, HLA-A, HLA-B, KIFC1, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HLA-G, HMGA1, HSPA1A, HSPA1B, HSPA1L, HSP90AB1, HTR1B, IL17A, IMPG1, ITPR3, LTA, LTB, MCM3, MDFI, MEA1, MEP1A, MICB, MLN, MOCS1, MOG, MSH5, MMUT, MYO6, RPL10A, NEU1, NFKBIE, NFKBIL1, NFYA, NOTCH4, PBX2, PEX6, PGC, PGK2, PHF1, PIM1, PKHD1, POLH, MAPK13, POU5F1, PPARD, PPP1R10, PPP2R5D, PSMB8, PSMB9, PTK7, RGL2, PRPH2, RHAG, RING1, BRD2, RNF5, RPS10, RPS18, RXRB, VPS52, SRSF3, SKIV2L, SNRPC, SRF, SRPK1, ELOVL4, TAF11, TAP1, TCP11, TAP2, TAPBP, TBCC, TCF19, PPP1R11, TEAD3, TFAP2B, TNF, TNXB, CRISP2, TTK, TULP1, PTP4A1, VARS1, VEGFA, ZNF76, TRIM26, PRRC2A, BAG6, GPANK1, DDX39B, ABHD16A, SLC39A7, HSD17B8, OR2H2, NELFE, LST1, PLA2G7, TFEB, DHX16, SUPT3H, GCM1, KCNK5, B3GALT4, SYNGAP1, STK19, IER3, RNF8, WDR46, ZBTB22, HMGN3, PPT2, NCR2, MED20, SLC25A27, BAG2, POLR1C, MAD2L1BP, MDC1, TRAM2, CUL7, TRIM10, FLOT1, RCAN2, CRISP3, PFDN6, UBD, FRS3, AGPAT1, DNPH1, TSBP1, CNPY3, SLC22A7, HCP5, EHMT2, APOBEC2, STK38, TRIM31, CAPN11, NUDT3, NRM, CILK1, ENPP4, RIMS1, CMTR1, CUL9, ANKS1A, UBR2, PHF3, DAAM2, BICRAL, DDAH2, CD2AP, MTCH1, ZNF318, SPDEF, MTO1, YIPF3, USP49, ZNF451, SENP6, FBXO9, SLC17A5, FILIP1, BRPF3, GNMT, TNFRSF21, TINAG, MRPS18B, TMEM14A, C6orf15, PRICKLE4, PACSIN1, ETV7, POLR1H, DEF6, SNHG32, MRPL2, CYP39A1, LGSN, CUTA, PPIL1, RAB23, CLIC5, TREM2, TREM1, HMGCLL1, CCHCR1, GTPBP2, UHRF1BP1, PHIP, CENPQ, MRPS18A, MRPS10, LRRC1, TMEM63B, DDX43, TBC1D22B, TMEM30A, SAYSD1, LMBRD1, TRERF1, APOM, BTNL2, KCNQ5, FAM135A, TRIM39, VARS2, LRFN2, AARS2, XPO5, KIAA1586, CPNE5, LSM2, C6orf47, LY6G5B, LY6G6D, ENPP5, ELOVL5, SMAP1, ZFAND3, GPSM3, FKBPL, ILRUN, MRPL14, DLK2, OGFRL1, TREML2, RPP21, ATAT1, RNF39, SLC44A4, VWA7, MPIG6B, LY6G6C, LY6G5C, PRR3, KHDC1, TFAP2D, PRRT1, EGFL8, COL21A1, SH3BGRL2, KCNK16, UQCC2, TTBK1, PAQR8, RRP36, LINC01621, KCNK17, ABCC10, TRIM15, KLC4, MLIP, TJAP1, IL17F, EFHC1, BTBD9, CGAS, FOXP4, KLHDC3, SLC26A8, MAS1L, IP6K3, RN7SK, TAF8, IRAK1BP1, B3GAT2, SDHAF4, CD109, C6orf141, TRIM40, MUCL3, KHDC3L, CCDC167, LCA5, PSORS1C1, PSORS1C2, PPP1R18, PTCRA, TCTE1, KHDRBS2, TRIM39-RPP21, TUBB, BEND6, GSTA5, OPN5, ADGRF4, ADGRF5, TDRD6, SPATS1, C6orf223, RSPH9, LRRC73, OARD1, KIF6, TMEM217, FGD2, PI16, C6orf89, ARMC12, SMIM29, LEMD2, ZBTB9, ZBTB12, C6orf136, FAM83B, ADGRF2, TSPO2, UNC5CL, KCTD20, PXT1, LHFPL5, SCUBE3, DEFB110, DEFB112, DEFB113, DEFB114, CLPSL1, NCR3, LY6G6F, MDGA1, ADGRF1, HCG22, PNPLA1, TREML4, RPL7L1, DPPA5, TREML1, EYS, ZFP57, SLC35B2, HCG26, SFTA2, CLPSL2, BNIP5, GLYATL3, GFRAL, MUC21, MCCD1, SAPCD1, RAB44, LINC00951, CRIP3, KLHL31, MIR206, MIR219A1, MIR30A, HCG17, C6orf226, TMEM151B, OOEP, PTCHD4, MIR133B, C6orf132, MIR877, KHDC1L, TOMM6, ANKRD66, ERVH-3, MICA, MUC22, LOC101926915, LOC101927189
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625706
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