ClinVar Miner

Variants from Center for Human Genetics, Inc,Center for Human Genetics, Inc with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Center for Human Genetics, Inc,Center for Human Genetics, Inc: Collection method of the submission from Center for Human Genetics, Inc,Center for Human Genetics, Inc:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1071 231 2 143 70 1 44 249

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Center for Human Genetics, Inc,Center for Human Genetics, Inc pathogenic likely pathogenic uncertain significance likely benign benign association risk factor
pathogenic 2 43 19 1 1 1 1
likely pathogenic 67 0 8 0 0 0 0
uncertain significance 7 11 0 35 35 0 0
likely benign 1 0 14 0 32 0 0
benign 0 0 2 1 0 0 0

Submitter to submitter summary #

Total submitters: 64
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 160 0 73 33 1 23 130
Illumina Clinical Services Laboratory,Illumina 0 28 0 9 21 0 2 32
Mendelics 0 16 0 6 12 0 4 22
Center for Medical Genetics Ghent,University of Ghent 0 8 0 13 4 0 5 22
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 48 0 8 3 0 1 12
Genetic Services Laboratory, University of Chicago 0 13 0 8 2 0 1 11
Autoinflammatory diseases unit,CHU de Montpellier 0 9 0 9 0 0 2 11
Integrated Genetics/Laboratory Corporation of America 0 29 0 6 2 0 1 9
Counsyl 0 13 0 3 5 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 5 0 3 3 0 0 6
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 2 4 0 0 6
OMIM 0 53 0 2 2 0 1 5
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 2 0 4 1 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 5 0 3 2 0 0 5
Medical Genetics, University of Parma 0 27 0 3 0 0 2 5
Color Health, Inc 0 8 0 1 3 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 14 0 2 1 0 0 3
Medical Genomics Laboratory,Department of Genetics UAB 0 6 0 3 0 0 0 3
GeneReviews 0 11 2 0 0 0 1 3
Database of Curated Mutations (DoCM) 0 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 10 0 0 2 0 1 3
SIB Swiss Institute of Bioinformatics 0 2 0 1 2 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 0 3 0 0 3
Genomic Medicine Lab, University of California San Francisco 0 2 0 3 0 0 0 3
Athena Diagnostics Inc 0 9 0 0 2 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 17 0 1 0 1 0 2
Blueprint Genetics 0 5 0 2 0 0 0 2
RettBASE 0 7 0 2 0 0 0 2
Pathway Genomics 0 0 0 0 2 0 0 2
Laboratory of Human Genetics,Universidade de São Paulo 0 2 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 5 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 7 0 1 0 0 1 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 0 0 0 2 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 4 0 0 0 0 2 2
Baylor Genetics 0 17 0 0 0 0 1 1
Collagen Diagnostic Laboratory,University of Washington 0 1 0 0 0 0 1 1
Clinical Genetics laboratory, University of Goettingen 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 0 1 0 0 0 1
Ambry Genetics 0 0 0 0 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 0 1
Division of Human Genetics,Medical University Innsbruck 0 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 4 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 4 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 2 0 1 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 2 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 2 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 0 0 1 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 1 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 12 0 1 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 0 0 0 0 0 0 1 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 0 0 1 0 0 0 1
Wangler Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
CIViC knowledgebase,Washington University School of Medicine 0 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 6 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 249
Download table as spreadsheet
HGVS dbSNP
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.4(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) rs397514558
NM_000138.4(FBN1):c.3464-16_3464-14del rs775944757
NM_000138.4(FBN1):c.3476G>A (p.Cys1159Tyr) rs1555398524
NM_000138.4(FBN1):c.4747+5G>C rs193922209
NM_000138.4(FBN1):c.4943-1G>A rs1555396863
NM_000138.4(FBN1):c.5065+1G>C rs1296209846
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.4(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.8416dup (p.Ile2806fs) rs1555393538
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.5(FBN1):c.3712G>A rs794728208
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.5788+5G>A rs193922219
NM_000138.5(FBN1):c.6314-15G>A rs200841830
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.3787C>T (p.Arg1263Cys) rs367912290
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000244.3(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) rs750112288
NM_000244.3(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.4(MLH1):c.1039-8T>A rs193922367
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000251.2(MSH2):c.1662-9G>A rs17218356
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2500G>A (p.Ala834Thr) rs63750757
NM_000251.2(MSH2):c.505A>G (p.Ile169Val) rs63750716
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000267.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_000267.3(NF1):c.1527+5G>A rs1060500352
NM_000267.3(NF1):c.1599C>G (p.Val533=) rs369458366
NM_000267.3(NF1):c.1642-1G>A rs1555613185
NM_000267.3(NF1):c.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_000267.3(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_000267.3(NF1):c.2786T>C (p.Leu929Pro) rs1555614338
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.2990+5G>A rs1555614464
NM_000267.3(NF1):c.3198-4T>C rs587782218
NM_000267.3(NF1):c.3318C>A (p.Tyr1106Ter) rs876659289
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000267.3(NF1):c.4120C>T (p.Gln1374Ter) rs1555618494
NM_000267.3(NF1):c.4168C>G (p.Leu1390Val) rs199474789
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
NM_000267.3(NF1):c.4269+2T>C rs786204207
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4270-2A>G rs1555618634
NM_000267.3(NF1):c.4276C>T (p.Gln1426Ter) rs1135402857
NM_000267.3(NF1):c.4289A>C (p.Asn1430Thr) rs199474754
NM_000267.3(NF1):c.4289A>T (p.Asn1430Ile) rs199474754
NM_000267.3(NF1):c.4306_4308del (p.Lys1436del) rs1555618653
NM_000267.3(NF1):c.4358C>T (p.Ala1453Val) rs587781553
NM_000267.3(NF1):c.4367+1G>C rs773151680
NM_000267.3(NF1):c.4606dup (p.Thr1536fs) rs1555619033
NM_000267.3(NF1):c.4681_4682del (p.Glu1561fs) rs1555619395
NM_000267.3(NF1):c.5294C>A (p.Ser1765Ter) rs1555533569
NM_000267.3(NF1):c.5547-2A>T rs1135402876
NM_000267.3(NF1):c.5705C>G (p.Thr1902Arg) rs786203824
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.6084+2T>C rs1555534621
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6606C>A (p.Cys2202Ter) rs1555534918
NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.7235C>T (p.Thr2412Ile) rs755749772
NM_000267.3(NF1):c.7263A>G (p.Leu2421=) rs753224880
NM_000267.3(NF1):c.730+1G>T rs1060500274
NM_000267.3(NF1):c.7518del (p.Gln2507fs) rs878853917
NM_000267.3(NF1):c.7637C>T (p.Pro2546Leu) rs754511534
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.889-1G>A rs587781517
NM_000267.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_000267.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2772del (p.Phe924fs) rs1555508938
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe) rs759004251
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_001032280.3(TFAP2A):c.742C>T (p.Arg248Trp) rs151344528
NM_001032280.3(TFAP2A):c.749C>T (p.Ala250Val) rs151344531
NM_001042425.2(TFAP2A):c.751A>G (p.Arg251Gly) rs121909574
NM_001042492.3(NF1):c.1392+1G>A rs267604791
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer) rs1555764839
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001128425.1(MUTYH):c.1342C>G (p.His448Asp) rs786202133
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) rs587778920
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001278074.1(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro) rs1553704097
NM_001354630.1(MLH1):c.1732-878_1732-877delinsGC rs35502531
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_001374258.1(BRAF):c.1903T>C (p.Phe635Leu) rs794729219
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) rs1553396458
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe) rs1206843725
NM_001999.4(FBN2):c.7471+6G>A rs200998513
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val) rs201962592
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003122.4(SPINK1):c.163C>T (p.Pro55Ser) rs111966833
NM_003122.4(SPINK1):c.194+2T>C rs148954387
NM_003122.4(SPINK1):c.206C>T (p.Thr69Ile) rs576564400
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477
NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) rs148688181
NM_003482.3(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516
NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.3(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.3(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.3(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.3(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.13531-10T>C rs769029919
NM_003482.3(KMT2D):c.13671+10dup rs147210845
NM_003482.3(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.3(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.3(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003482.3(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.3(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) rs192659833
NM_003482.3(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.3(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833
NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944
NM_003482.3(KMT2D):c.6992del (p.Leu2331fs) rs1555192437
NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971
NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817
NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.3(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.4135_4136del rs398123744
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.3582+7T>C rs370618729
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_022455.4(NSD1):c.4966+15T>C rs587784130
NM_022455.4(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.4(NSD1):c.6259-8A>T rs370529039
NM_022455.4(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522

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