ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "likely pathogenic" from any submitter

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000051.3(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000364.4(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_015548.5(DST):c.22del (p.Tyr8fs) rs775912185
NM_018389.4(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018486.3(HDAC8):c.416G>C (p.Gly139Ala) rs878853048
NM_018849.3(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg) rs370673772
NM_025152.3(NUBPL):c.815-27T>C rs118161496
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_145207.3(SPATA5):c.1877G>C (p.Trp626Ser) rs375343753
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899
NM_198076.6(COX20):c.92G>A (p.Arg31Gln) rs764620077
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
Single allele rs376606918

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