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Items: 1 to 100 of 216

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:2749920-22564787
ALPL, RERE, CA6, CAPZB, CASP9, TNFRSF8, CDA, CDC42, CLCN6, CLCNKA, CLCNKB, CORT, DDOST, DFFA, DFFB, ECE1, MEGF6, EPHA2, ENO1, MTOR, ZBTB48, HSPG2, HTR6, TNFRSF9, MFAP2, MTHFR, NBL1, NPPA, NPPB, PAX7, PEX14, PGD, PIK3CD, PLA2G2A, PLA2G5, PLOD1, EXOSC10, RAP1GAP, RNU1-4, RPL22, RSC1A1, SDHB, SLC2A5, SRM, TNFRSF1B, TP73, TRE-TTC3-1, TRNAG1, ZBTB17, PRDM2, KCNAB2, AKR7A2, ALDH4A1, EIF4G3, TNFRSF25, PER3, DHRS3, VAMP3, H6PD, CROCC, CEP104, KLHL21, MFN2, CELA3A, ANGPTL7, UBE4B, MAD2L2, PDPN, MASP2, UTS2, MST1L, PADI2, PARK7, CTRC, ACOT7, CLSTN1, AKR7A3, SPEN, EMC1, KIF1B, PLEKHM2, OTUD3, KAZN, CAMTA1, DNAJC16, UBR4, ATP13A2, TARDBP, CELA3B, ICMT, PADI4, CHD5, SZRD1, FBXO2, FBXO6, PLA2G2D, HSPB7, ARHGEF16, UBIAD1, PADI1, PLA2G2E, WRAP73, SLC45A1, HP1BP3, CELA2B, MRTO4, PADI3, ERRFI1, WNT4, FBXO42, RNF186, HES2, FBLIM1, PQLC2, CASZ1, TMEM51, ARHGEF10L, VPS13D, CAMK2N1, NBPF1, NECAP2, DNAJC11, RCC2, AJAP1, CTNNBIP1, AGTRAP, PLEKHG5, LRRC47, DISP3, KIF17, MIIP, CELA2A, PRDM16, PLA2G2F, NMNAT1, PINK1, PRAMEF1, PRAMEF2, EFHD2, RSG1, MUL1, NOL9, AGMAT, GPR157, SPSB1, TAS1R2, TAS1R1, ACTL8, ESPN, USP48, NBPF3, SLC25A33, DDI2, LZIC, IGSF21, KIAA2013, THAP3, C1orf158, FBXO44, FHAD1, RBP7, LRRC38, AADACL3, IFFO2, TPRG1L, KLHDC7A, VWA5B1, UBXN10, ARHGEF19, ACTRT2, C1orf127, PHF13, CCDC27, C1orf64, SLC2A7, FAM43B, TMEM201, AKR7L, TMCO4, NPHP4, C1orf167, SLC25A34, C1orf174, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, PADI6, DRAXIN, SPATA21, CENPS, GPR153, SMIM1, RNF207, TMEM82, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, PRAMEF4, PRAMEF13, SH2D5, LDLRAD2, MIR34A, PRAMEF11, PRAMEF6, HNRNPCL2, MINOS1, PRAMEF7, PRAMEF19, PRAMEF20, PRAMEF22, PRAMEF15, PRAMEF16, MIR551A, LINC01783, TRQ-CTG14-1, ENO1-AS1, APITD1-CORT, MINOS1-NBL1
See casesPathogenicno assertion criteria provided
2.
GRCh37:
Chr1:4558588-13187457
See casesPathogenicno assertion criteria provided
3.
GRCh37:
Chr1:11865994-11866000
GRCh38:
Chr1:11805937-11805943
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:11865946
GRCh38:
Chr1:11805889
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:11863057
GRCh38:
Chr1:11803000
MTHFRNeural tube defects, folate-sensitive, not specifiedGMAF:0.10160(A)
GO-ESP:0.09985(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:11861322
GRCh38:
Chr1:11801265
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:11856370
GRCh38:
Chr1:11796313
MTHFRNeural tube defects, folate-sensitiveGMAF:0.00020(C)
GO-ESP:0.00011(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:11855417
GRCh38:
Chr1:11795360
MTHFRNeural tube defects, folate-sensitiveGO-ESP:0.00008(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:11855373
GRCh38:
Chr1:11795316
MTHFRNeural tube defects, folate-sensitiveGO-ESP:0.00001(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr1:11855319
GRCh38:
Chr1:11795262
MTHFRNeural tube defects, folate-sensitiveGO-ESP:0.00001(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr1:11855316
GRCh38:
Chr1:11795259
MTHFRNeural tube defects, folate-sensitiveGMAF:0.00020(A)
GO-ESP:0.00020(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr1:11855175
GRCh38:
Chr1:11795118
MTHFRNeural tube defects, folate-sensitiveGO-ESP:0.00001(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:11854896
GRCh38:
Chr1:11794839
MTHFRNeural tube defects, folate-sensitive, not specifiedGMAF:0.10340(A)
GO-ESP:0.10015(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr1:11854818
GRCh38:
Chr1:11794761
MTHFRNeural tube defects, folate-sensitiveGO-ESP:0.00001(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr1:11854116
GRCh38:
Chr1:11794059
MTHFRNeural tube defects, folate-sensitiveGO-ESP:0.00008(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr1:11854085
GRCh38:
Chr1:11794028
MTHFRNeural tube defects, folate-sensitiveGMAF:0.00040(A)
GO-ESP:0.00144(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr1:11851367
GRCh38:
Chr1:11791310
MTHFRNeural tube defects, folate-sensitiveGO-ESP:0.00003(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr1:11850969
GRCh38:
Chr1:11790912
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr1:11850947
GRCh38:
Chr1:11790890
MTHFRNeural tube defects, folate-sensitiveGMAF:0.00140(A)
GO-ESP:0.00165(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr1:11850847
GRCh38:
Chr1:11790790
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr1:11850759
GRCh38:
Chr1:11790702
MTHFRNeural tube defects, folate-sensitiveGO-ESP:0.00006(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr1:11850716
GRCh38:
Chr1:11790659
MTHFRNeural tube defects, folate-sensitiveGO-ESP:0.00007(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:11850715
GRCh38:
Chr1:11790658
MTHFRNeural tube defects, folate-sensitiveGO-ESP:0.00009(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr1:11850628
GRCh38:
Chr1:11790571
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr1:11850616
GRCh38:
Chr1:11790559
MTHFRNeural tube defects, folate-sensitiveGMAF:0.00040(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr1:11850563
GRCh38:
Chr1:11790506
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr1:11850368-11850370
GRCh38:
Chr1:11790311-11790313
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr1:11850365
GRCh38:
Chr1:11790308
MTHFRNeural tube defects, folate-sensitiveGMAF:0.37160(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr1:11850364-11850365
GRCh38:
Chr1:11790307-11790308
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr1:11850224
GRCh38:
Chr1:11790167
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr1:11850194
GRCh38:
Chr1:11790137
MTHFRNeural tube defects, folate-sensitiveGMAF:0.02940(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr1:11850153
GRCh38:
Chr1:11790096
MTHFRNeural tube defects, folate-sensitiveGMAF:0.00020(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr1:11850035
GRCh38:
Chr1:11789978
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr1:11850005
GRCh38:
Chr1:11789948
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr1:11850001
GRCh38:
Chr1:11789944
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:11849920
GRCh38:
Chr1:11789863
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr1:11849871
GRCh38:
Chr1:11789814
MTHFRNeural tube defects, folate-sensitiveGMAF:0.00360(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr1:11849803
GRCh38:
Chr1:11789746
MTHFRNeural tube defects, folate-sensitiveGMAF:0.00080(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr1:11849719
GRCh38:
Chr1:11789662
MTHFRNeural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr1:11849503
GRCh38:
Chr1:11789446
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr1:11849452
GRCh38:
Chr1:11789395
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr1:11849447
GRCh38:
Chr1:11789390
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.06710(A)Benign
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr1:11849443
GRCh38:
Chr1:11789386
MTHFR, C1orf167Neural tube defects, folate-sensitiveGO-ESP:0.00048(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr1:11849348
GRCh38:
Chr1:11789291
MTHFR, C1orf167Neural tube defects, folate-sensitiveGO-ESP:0.00007(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr1:11849315
GRCh38:
Chr1:11789258
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00060(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr1:11849206
GRCh38:
Chr1:11789149
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr1:11848972
GRCh38:
Chr1:11788915
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.12420(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr1:11848879
GRCh38:
Chr1:11788822
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.06950(A)Benign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr1:11848877
GRCh38:
Chr1:11788820
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr1:11848744
GRCh38:
Chr1:11788687
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr1:11848684
GRCh38:
Chr1:11788627
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00180(T)
GO-ESP:0.00439(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr1:11848515
GRCh38:
Chr1:11788458
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr1:11848436
GRCh38:
Chr1:11788379
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00020(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr1:11848281
GRCh38:
Chr1:11788224
MTHFR, C1orf167Neural tube defects, folate-sensitiveGO-ESP:0.00007(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr1:11848261-11848263
GRCh38:
Chr1:11788204-11788206
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr1:11848240
GRCh38:
Chr1:11788183
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00020(T)
GO-ESP:0.00007(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr1:11848211
GRCh38:
Chr1:11788154
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr1:11848184
GRCh38:
Chr1:11788127
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00040(T)
GO-ESP:0.00009(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr1:11848143
GRCh38:
Chr1:11788086
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00100(A)
GO-ESP:0.00171(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr1:11848139
GRCh38:
Chr1:11788082
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.12680(A)
GO-ESP:0.23678(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr1:11848084
GRCh38:
Chr1:11788027
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00080(A)
GO-ESP:0.00160(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr1:11848080
GRCh38:
Chr1:11788023
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00020(A)
GO-ESP:0.00157(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr1:11848068
GRCh38:
Chr1:11788011
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.11760(C)
GO-ESP:0.13102(C)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr1:11847936
GRCh38:
Chr1:11787879
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00060(A)
GO-ESP:0.00075(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr1:11847932
GRCh38:
Chr1:11787875
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00400(C)
GO-ESP:0.00231(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr1:11847928
GRCh38:
Chr1:11787871
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr1:11847902
GRCh38:
Chr1:11787845
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.11100(A)
GO-ESP:0.11591(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr1:11847861
GRCh38:
Chr1:11787804
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.11140(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr1:11847772
GRCh38:
Chr1:11787715
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.11240(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr1:11847759
GRCh38:
Chr1:11787702
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.44150(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr1:11847709
GRCh38:
Chr1:11787652
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00080(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr1:11847691
GRCh38:
Chr1:11787634
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00080(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr1:11847649
GRCh38:
Chr1:11787592
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00340(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr1:11847579
GRCh38:
Chr1:11787522
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr1:11847548
GRCh38:
Chr1:11787491
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr1:11847518
GRCh38:
Chr1:11787461
MTHFR, C1orf167Neural tube defects, folate-sensitiveGO-ESP:0.00015(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr1:11847453
GRCh38:
Chr1:11787396
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr1:11847449
GRCh38:
Chr1:11787392
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.07430(A)
GO-ESP:0.09481(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr1:11847436
GRCh38:
Chr1:11787379
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.05970(C)
GO-ESP:0.11278(C)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr1:11847335-11847337
GRCh38:
Chr1:11787278-11787280
MTHFR, C1orf167Neural tube defects, folate-sensitiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr1:11846774
GRCh38:
Chr1:11786717
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr1:11846742
GRCh38:
Chr1:11786685
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.11780(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr1:11846696
GRCh38:
Chr1:11786639
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr1:11846676-11846679
GRCh38:
Chr1:11786619-11786622
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr1:11846660-11846661
GRCh38:
Chr1:11786603-11786604
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr1:11846660-11846667
GRCh38:
Chr1:11786603-11786610
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr1:11846660-11846663
GRCh38:
Chr1:11786603-11786606
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.22280(TTTT)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr1:11846653
GRCh38:
Chr1:11786596
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00100(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr1:11846569
GRCh38:
Chr1:11786512
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr1:11846470
GRCh38:
Chr1:11786413
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr1:11846447
GRCh38:
Chr1:11786390
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.06670(G)Benign
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr1:11846316
GRCh38:
Chr1:11786259
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr1:11846252
GRCh38:
Chr1:11786195
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.29350(G)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr1:11846248
GRCh38:
Chr1:11786191
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr1:11846232
GRCh38:
Chr1:11786175
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00060(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr1:11846231
GRCh38:
Chr1:11786174
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr1:11846188
GRCh38:
Chr1:11786131
MTHFR, C1orf167Neural tube defects, folate-sensitiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr1:11846093
GRCh38:
Chr1:11786036
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.04870(-)Benign
(Jun 14, 2016)
criteria provided, single submitter
99.
GRCh37:
Chr1:11846058
GRCh38:
Chr1:11786001
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.00060(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr1:11845946
GRCh38:
Chr1:11785889
MTHFR, C1orf167Neural tube defects, folate-sensitiveGMAF:0.04570(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
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