MIR4713HG (MIR4713 host gene) - Rat Genome Database

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Gene: MIR4713HG (MIR4713 host gene) Homo sapiens
Analyze
Symbol: MIR4713HG
Name: MIR4713 host gene
RGD ID: 12791128
HGNC Page HGNC:53124
Description: ASSOCIATED WITH aromatase excess syndrome; chronic obstructive pulmonary disease; Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381551,037,488 - 51,293,912 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1551,037,488 - 51,293,912 (+)EnsemblGRCh38hg38GRCh38
GRCh371551,329,685 - 51,586,109 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15q21.2NCBI
T2T-CHM13v2.01548,845,125 - 49,101,683 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:16344560   PMID:28187432   PMID:33760127  


Genomics

Variants

.
Variants in MIR4713HG
499 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000103.4(CYP19A1):c.*191C>A single nucleotide variant Aromatase deficiency [RCV000271758] Chr15:51210617 [GRCh38]
Chr15:51502814 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*9G>T single nucleotide variant Aromatase deficiency [RCV000378305] Chr15:51210799 [GRCh38]
Chr15:51502996 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.907A>G (p.Met303Val) single nucleotide variant Aromatase deficiency [RCV001279025] Chr15:51215184 [GRCh38]
Chr15:51507381 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.823T>C (p.Cys275Arg) single nucleotide variant Aromatase deficiency [RCV001279027] Chr15:51215738 [GRCh38]
Chr15:51507935 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.*2258_*2259insA insertion Aromatase deficiency [RCV000370580] Chr15:51208549..51208550 [GRCh38]
Chr15:51500746..51500747 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.*2032G>A single nucleotide variant Aromatase deficiency [RCV000381901] Chr15:51208776 [GRCh38]
Chr15:51500973 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1425C>T (p.His475=) single nucleotide variant Aromatase deficiency [RCV001278237]|not provided [RCV001444170] Chr15:51210895 [GRCh38]
Chr15:51503092 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.201G>A (p.Trp67Ter) single nucleotide variant not provided [RCV000415789] Chr15:51236954 [GRCh38]
Chr15:51529151 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_000103.4(CYP19A1):c.*460G>C single nucleotide variant Aromatase deficiency [RCV000400745] Chr15:51210348 [GRCh38]
Chr15:51502545 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.*166T>A single nucleotide variant Aromatase deficiency [RCV000308408] Chr15:51210642 [GRCh38]
Chr15:51502839 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) single nucleotide variant Aromatase deficiency [RCV000019399] Chr15:51212489 [GRCh38]
Chr15:51504686 [GRCh37]
Chr15:15q21.2		 pathogenic|likely pathogenic
NM_000103.4(CYP19A1):c.629-3C>A single nucleotide variant Aromatase deficiency [RCV000019401] Chr15:51218658 [GRCh38]
Chr15:51510855 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.49G>A (p.Val17Met) single nucleotide variant Aromatase deficiency [RCV000344503]|CYP19A1-related condition [RCV003930364]|not provided [RCV002061186] Chr15:51242864 [GRCh38]
Chr15:51535061 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.383A>G (p.His128Arg) single nucleotide variant Aromatase deficiency [RCV001120303]|Premature ovarian failure [RCV001270230] Chr15:51227847 [GRCh38]
Chr15:51520044 [GRCh37]
Chr15:15q21.2		 likely pathogenic|likely benign
NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys) single nucleotide variant Aromatase deficiency [RCV001120306]|not specified [RCV002249731] Chr15:51236913 [GRCh38]
Chr15:51529110 [GRCh37]
Chr15:15q21.2		 benign|uncertain significance
NM_000103.4(CYP19A1):c.*161T>G single nucleotide variant Aromatase deficiency [RCV000363053]|not provided [RCV001618557] Chr15:51210647 [GRCh38]
Chr15:51502844 [GRCh37]
Chr15:15q21.2		 benign|drug response
NM_000103.4(CYP19A1):c.1378G>A (p.Val460Met) single nucleotide variant Aromatase deficiency [RCV000264992] Chr15:51210942 [GRCh38]
Chr15:51503139 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr) single nucleotide variant Aromatase deficiency [RCV000019394] Chr15:51211010 [GRCh38]
Chr15:51503207 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.629-8dup duplication Aromatase deficiency [RCV000351797]|not provided [RCV000917068] Chr15:51218662..51218663 [GRCh38]
Chr15:51510859..51510860 [GRCh37]
Chr15:15q21.2		 benign|uncertain significance
NC_000015.10:g.(?_51218531)_(51218665_?)del deletion not provided [RCV000815912] Chr15:51218531..51218665 [GRCh38]
Chr15:51510728..51510862 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.*638G>T single nucleotide variant Aromatase deficiency [RCV000315240] Chr15:51210170 [GRCh38]
Chr15:51502367 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*1364C>T single nucleotide variant Aromatase deficiency [RCV001119916] Chr15:51209444 [GRCh38]
Chr15:51501641 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*1190C>T single nucleotide variant Aromatase deficiency [RCV001119917] Chr15:51209618 [GRCh38]
Chr15:51501815 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.*19C>T single nucleotide variant Aromatase deficiency [RCV000323501]|Aromatase excess syndrome [RCV001533477]|Letrozole response [RCV003330314]|not provided [RCV001519440]|not specified [RCV001528718] Chr15:51210789 [GRCh38]
Chr15:51502986 [GRCh37]
Chr15:15q21.2		 benign|drug response
NM_000103.4(CYP19A1):c.*1877T>G single nucleotide variant Aromatase deficiency [RCV000323848] Chr15:51208931 [GRCh38]
Chr15:51501128 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.976C>T (p.Pro326Ser) single nucleotide variant Aromatase deficiency [RCV000320207]|CYP19A1-related condition [RCV003910196]|not provided [RCV000928289] Chr15:51215115 [GRCh38]
Chr15:51507312 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.602C>T (p.Thr201Met) single nucleotide variant Aromatase deficiency [RCV000293196]|not provided [RCV001520086]|not specified [RCV001529832] Chr15:51222375 [GRCh38]
Chr15:51514572 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.*2467G>A single nucleotide variant Aromatase deficiency [RCV000391125] Chr15:51208341 [GRCh38]
Chr15:51500538 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.*2274A>G single nucleotide variant Aromatase deficiency [RCV000297229] Chr15:51208534 [GRCh38]
Chr15:51500731 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 copy number loss See cases [RCV000136661] Chr15:51276690..57088386 [GRCh38]
Chr15:51568887..57380584 [GRCh37]
Chr15:49356179..55167876 [NCBI36]
Chr15:15q21.2-21.3		 pathogenic
NM_000103.4(CYP19A1):c.186C>T (p.His62=) single nucleotide variant Aromatase deficiency [RCV000398693]|not provided [RCV000960796]|not specified [RCV000603576] Chr15:51236969 [GRCh38]
Chr15:51529166 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.*108A>G single nucleotide variant Aromatase deficiency [RCV000268346] Chr15:51210700 [GRCh38]
Chr15:51502897 [GRCh37]
Chr15:15q21.2		 benign|uncertain significance
NM_000103.4(CYP19A1):c.*1296T>C single nucleotide variant Aromatase deficiency [RCV000339324] Chr15:51209512 [GRCh38]
Chr15:51501709 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.*1019C>T single nucleotide variant Aromatase deficiency [RCV000280743] Chr15:51209789 [GRCh38]
Chr15:51501986 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*747G>A single nucleotide variant Aromatase deficiency [RCV000401571] Chr15:51210061 [GRCh38]
Chr15:51502258 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) single nucleotide variant Aromatase deficiency [RCV000019393]|not provided [RCV000814400] Chr15:51211017 [GRCh38]
Chr15:51503214 [GRCh37]
Chr15:15q21.2		 pathogenic|likely pathogenic
NM_000103.4(CYP19A1):c.743+2T>C single nucleotide variant Aromatase deficiency [RCV000019395] Chr15:51218539 [GRCh38]
Chr15:51510736 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.*280A>T single nucleotide variant Aromatase deficiency [RCV000311533] Chr15:51210528 [GRCh38]
Chr15:51502725 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.*191del deletion Aromatase deficiency [RCV000366248] Chr15:51210617 [GRCh38]
Chr15:51502814 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2		 pathogenic
NM_000103.4(CYP19A1):c.*1608C>T single nucleotide variant Aromatase deficiency [RCV000378487] Chr15:51209200 [GRCh38]
Chr15:51501397 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*1601G>A single nucleotide variant Aromatase deficiency [RCV000284329] Chr15:51209207 [GRCh38]
Chr15:51501404 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.*2645dup duplication Aromatase deficiency [RCV000302208] Chr15:51208162..51208163 [GRCh38]
Chr15:51500359..51500360 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.42C>G (p.Thr14=) single nucleotide variant Aromatase deficiency [RCV001115408]|CYP19A1-related condition [RCV003917915]|not provided [RCV000909038] Chr15:51242871 [GRCh38]
Chr15:51535068 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.*2511G>A single nucleotide variant Aromatase deficiency [RCV000357083] Chr15:51208297 [GRCh38]
Chr15:51500494 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.953T>C (p.Met318Thr) single nucleotide variant Aromatase deficiency [RCV000374821]|Aromatase excess syndrome [RCV002494991] Chr15:51215138 [GRCh38]
Chr15:51507335 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1224del (p.Lys409fs) deletion Aromatase deficiency [RCV000019397] Chr15:51212359 [GRCh38]
Chr15:51504556 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.296+1G>A single nucleotide variant Aromatase deficiency [RCV000019398] Chr15:51236858 [GRCh38]
Chr15:51529055 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) single nucleotide variant Aromatase deficiency [RCV000019404]|not provided [RCV001851942] Chr15:51222349 [GRCh38]
Chr15:51514546 [GRCh37]
Chr15:15q21.2		 pathogenic
GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1 copy number loss See cases [RCV000135639] Chr15:47460844..52494222 [GRCh38]
Chr15:47753041..52786419 [GRCh37]
Chr15:45540333..50573711 [NCBI36]
Chr15:15q21.1-21.2		 pathogenic
NM_000103.4(CYP19A1):c.*1069C>T single nucleotide variant Aromatase deficiency [RCV000397205] Chr15:51209739 [GRCh38]
Chr15:51501936 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.109T>C (p.Leu37=) single nucleotide variant Aromatase deficiency [RCV001120307]|CYP19A1-related condition [RCV003927982]|not provided [RCV000909037] Chr15:51242804 [GRCh38]
Chr15:51535001 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) single nucleotide variant Aromatase deficiency [RCV000310608]|not provided [RCV000881105] Chr15:51242798 [GRCh38]
Chr15:51534995 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.230A>G (p.Tyr77Cys) single nucleotide variant not specified [RCV000413481] Chr15:51236925 [GRCh38]
Chr15:51529122 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1051C>T (p.Gln351Ter) single nucleotide variant not provided [RCV000627302] Chr15:51212532 [GRCh38]
Chr15:51504729 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.*2170G>A single nucleotide variant Aromatase deficiency [RCV000367300] Chr15:51208638 [GRCh38]
Chr15:51500835 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.*858C>T single nucleotide variant Aromatase deficiency [RCV000336258] Chr15:51209950 [GRCh38]
Chr15:51502147 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*2155T>C single nucleotide variant Aromatase deficiency [RCV000272738] Chr15:51208653 [GRCh38]
Chr15:51500850 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh38/hg38 15q21.1-21.3(chr15:46042302-54195828)x1 copy number loss See cases [RCV000051619] Chr15:46042302..54195828 [GRCh38]
Chr15:46334500..54488025 [GRCh37]
Chr15:44121792..52275317 [NCBI36]
Chr15:15q21.1-21.3		 pathogenic
NM_000103.4(CYP19A1):c.*483G>C single nucleotide variant Aromatase deficiency [RCV000369907] Chr15:51210325 [GRCh38]
Chr15:51502522 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*2257A>G single nucleotide variant Aromatase deficiency [RCV000276039] Chr15:51208551 [GRCh38]
Chr15:51500748 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys) single nucleotide variant Aromatase deficiency [RCV000278064]|not provided [RCV001522786]|not specified [RCV000124653] Chr15:51215771 [GRCh38]
Chr15:51507968 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.240A>G (p.Val80=) single nucleotide variant Aromatase deficiency [RCV000350431]|Aromatase excess syndrome [RCV001533478]|not provided [RCV001512481]|not specified [RCV001528788] Chr15:51236915 [GRCh38]
Chr15:51529112 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.*1888A>G single nucleotide variant Aromatase deficiency [RCV000287485] Chr15:51208920 [GRCh38]
Chr15:51501117 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.380T>C (p.Met127Thr) single nucleotide variant not provided [RCV000414127] Chr15:51227850 [GRCh38]
Chr15:51520047 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_000103.4(CYP19A1):c.629-10T>C single nucleotide variant Aromatase deficiency [RCV000387706]|not provided [RCV001452143] Chr15:51218665 [GRCh38]
Chr15:51510862 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys) single nucleotide variant Aromatase deficiency [RCV000019396] Chr15:51212460 [GRCh38]
Chr15:51504657 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.*2039G>T single nucleotide variant Aromatase deficiency [RCV000327775] Chr15:51208769 [GRCh38]
Chr15:51500966 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.*2192T>C single nucleotide variant Aromatase deficiency [RCV000331291] Chr15:51208616 [GRCh38]
Chr15:51500813 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.451+79TATT[12] microsatellite not provided [RCV001565139] Chr15:51227672..51227673 [GRCh38]
Chr15:51519869..51519870 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1142A>T (p.Asp381Val) single nucleotide variant Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [RCV001667862] Chr15:51212441 [GRCh38]
Chr15:51504638 [GRCh37]
Chr15:15q21.2		 pathogenic|uncertain significance
NM_000103.4(CYP19A1):c.343C>T (p.Arg115Ter) single nucleotide variant Aromatase deficiency [RCV001832802]|not provided [RCV001586504] Chr15:51227887 [GRCh38]
Chr15:51520084 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1264-225G>A single nucleotide variant not provided [RCV001649389] Chr15:51211281 [GRCh38]
Chr15:51503478 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.165A>T (p.Gly55=) single nucleotide variant not provided [RCV001570325] Chr15:51236990 [GRCh38]
Chr15:51529187 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.451+227G>A single nucleotide variant not provided [RCV001570637] Chr15:51227552 [GRCh38]
Chr15:51519749 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.858+101del deletion not provided [RCV001575302] Chr15:51215602 [GRCh38]
Chr15:51507799 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.858+106A>G single nucleotide variant not provided [RCV001645197] Chr15:51215597 [GRCh38]
Chr15:51507794 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.603G>T (p.Thr201=) single nucleotide variant not provided [RCV001724893] Chr15:51222374 [GRCh38]
Chr15:51514571 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.-38-109A>C single nucleotide variant not provided [RCV001568815] Chr15:51243059 [GRCh38]
Chr15:51535256 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.451+8G>A single nucleotide variant Aromatase deficiency [RCV001273379]|not provided [RCV000922933] Chr15:51227771 [GRCh38]
Chr15:51519968 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.915C>T (p.Ile305=) single nucleotide variant not provided [RCV000923997] Chr15:51215176 [GRCh38]
Chr15:51507373 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001311175.2(TNFAIP8L3):c.-118CGCCGCCCG[1] microsatellite not provided [RCV000947628] Chr15:51094696..51094704 [GRCh38]
Chr15:51386893..51386901 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.84_85delinsTT (p.Val28_Leu29=) indel not provided [RCV000945180] Chr15:51242828..51242829 [GRCh38]
Chr15:51535025..51535026 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.465C>T (p.Pro155=) single nucleotide variant Aromatase deficiency [RCV001120000]|not provided [RCV000945199] Chr15:51222512 [GRCh38]
Chr15:51514709 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.1212C>A (p.Leu404=) single nucleotide variant Aromatase deficiency [RCV001275588]|not provided [RCV000982484] Chr15:51212371 [GRCh38]
Chr15:51504568 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.24G>A (p.Pro8=) single nucleotide variant Aromatase deficiency [RCV001115409]|not provided [RCV000944238] Chr15:51242889 [GRCh38]
Chr15:51535086 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.1107C>A (p.Val369=) single nucleotide variant not provided [RCV000944122] Chr15:51212476 [GRCh38]
Chr15:51504673 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.693A>C (p.Pro231=) single nucleotide variant not provided [RCV000944548] Chr15:51218591 [GRCh38]
Chr15:51510788 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) single nucleotide variant Aromatase deficiency [RCV001119999]|not provided [RCV000926434] Chr15:51222476 [GRCh38]
Chr15:51514673 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.475C>T (p.Arg159Cys) single nucleotide variant Aromatase deficiency [RCV001273378]|not provided [RCV000942776] Chr15:51222502 [GRCh38]
Chr15:51514699 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.1387T>C (p.Leu463=) single nucleotide variant Aromatase deficiency [RCV001275586]|not provided [RCV000978652] Chr15:51210933 [GRCh38]
Chr15:51503130 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.318A>T (p.Ile106=) single nucleotide variant not provided [RCV000927476] Chr15:51227912 [GRCh38]
Chr15:51520109 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.492T>C (p.Cys164=) single nucleotide variant not provided [RCV000975862] Chr15:51222485 [GRCh38]
Chr15:51514682 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1113C>T (p.Asp371=) single nucleotide variant Aromatase deficiency [RCV001275589]|not provided [RCV000914156] Chr15:51212470 [GRCh38]
Chr15:51504667 [GRCh37]
Chr15:15q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031226.2(CYP19A1):c.1022delG deletion not provided [RCV000803994] Chr15:51212561 [GRCh38]
Chr15:51504758 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1165A>T (p.Lys389Ter) single nucleotide variant not provided [RCV000792328] Chr15:51212418 [GRCh38]
Chr15:51504615 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1058dup (p.Leu353fs) duplication Aromatase deficiency [RCV001830765]|not provided [RCV000809692] Chr15:51212524..51212525 [GRCh38]
Chr15:51504721..51504722 [GRCh37]
Chr15:15q21.2		 pathogenic|likely pathogenic
NM_000103.4(CYP19A1):c.787del (p.Arg263fs) deletion not provided [RCV000792420] Chr15:51215774 [GRCh38]
Chr15:51507971 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.*2723A>G single nucleotide variant Aromatase deficiency [RCV001119812] Chr15:51208085 [GRCh38]
Chr15:51500282 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.*2126G>A single nucleotide variant Aromatase deficiency [RCV001115232] Chr15:51208682 [GRCh38]
Chr15:51500879 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*1888A>T single nucleotide variant Aromatase deficiency [RCV001118382] Chr15:51208920 [GRCh38]
Chr15:51501117 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*1833C>A single nucleotide variant Aromatase deficiency [RCV001118384] Chr15:51208975 [GRCh38]
Chr15:51501172 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1488C>T (p.Asn496=) single nucleotide variant Aromatase deficiency [RCV001118479]|not provided [RCV001394014] Chr15:51210832 [GRCh38]
Chr15:51503029 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.*240C>A single nucleotide variant Aromatase deficiency [RCV001115326] Chr15:51210568 [GRCh38]
Chr15:51502765 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.561G>A (p.Val187=) single nucleotide variant not provided [RCV000979462] Chr15:51222416 [GRCh38]
Chr15:51514613 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.780A>G (p.Ala260=) single nucleotide variant not provided [RCV000942449] Chr15:51215781 [GRCh38]
Chr15:51507978 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.963C>G (p.Leu321=) single nucleotide variant Aromatase deficiency [RCV001118482]|not provided [RCV000898264] Chr15:51215128 [GRCh38]
Chr15:51507325 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.1353C>T (p.Leu451=) single nucleotide variant Aromatase deficiency [RCV001279022]|not provided [RCV000978198] Chr15:51210967 [GRCh38]
Chr15:51503164 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.*1381C>T single nucleotide variant Aromatase deficiency [RCV001119915] Chr15:51209427 [GRCh38]
Chr15:51501624 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001311175.2(TNFAIP8L3):c.318G>C (p.Glu106Asp) single nucleotide variant not specified [RCV004304133] Chr15:51058178 [GRCh38]
Chr15:51350375 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001311175.2(TNFAIP8L3):c.461C>T (p.Thr154Met) single nucleotide variant not specified [RCV004297006] Chr15:51058035 [GRCh38]
Chr15:51350232 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*2536C>T single nucleotide variant Aromatase deficiency [RCV001121799] Chr15:51208272 [GRCh38]
Chr15:51500469 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1230C>T (p.Pro410=) single nucleotide variant Aromatase deficiency [RCV001118480]|not provided [RCV001434343] Chr15:51212353 [GRCh38]
Chr15:51504550 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.451+79TATT[10] microsatellite not provided [RCV001577088] Chr15:51227672..51227673 [GRCh38]
Chr15:51519869..51519870 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.552T>G (p.Tyr184Ter) single nucleotide variant not provided [RCV001557553] Chr15:51222425 [GRCh38]
Chr15:51514622 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.297-128C>T single nucleotide variant not provided [RCV001594129] Chr15:51228061 [GRCh38]
Chr15:51520258 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1022-53T>G single nucleotide variant not provided [RCV001656610] Chr15:51212614 [GRCh38]
Chr15:51504811 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.1224C>T (p.Pro408=) single nucleotide variant Aromatase deficiency [RCV001118481]|not provided [RCV000925428] Chr15:51212359 [GRCh38]
Chr15:51504556 [GRCh37]
Chr15:15q21.2		 benign
NM_207381.4(TNFAIP8L3):c.172G>C (p.Ala58Pro) single nucleotide variant not provided [RCV000892495] Chr15:51105005 [GRCh38]
Chr15:51397202 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.357A>C (p.Lys119Asn) single nucleotide variant Aromatase deficiency [RCV001120304] Chr15:51227873 [GRCh38]
Chr15:51520070 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=) single nucleotide variant Aromatase deficiency [RCV001120305]|not provided [RCV001504029] Chr15:51227894 [GRCh38]
Chr15:51520091 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.*2086G>A single nucleotide variant Aromatase deficiency [RCV001115233] Chr15:51208722 [GRCh38]
Chr15:51500919 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*2067T>G single nucleotide variant Aromatase deficiency [RCV001115234] Chr15:51208741 [GRCh38]
Chr15:51500938 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*125T>C single nucleotide variant Aromatase deficiency [RCV001115327] Chr15:51210683 [GRCh38]
Chr15:51502880 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*78G>T single nucleotide variant Aromatase deficiency [RCV001115328] Chr15:51210730 [GRCh38]
Chr15:51502927 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.297-1G>C single nucleotide variant Aromatase deficiency [RCV001827423]|Aromatase excess syndrome [RCV002489695]|not provided [RCV001065984] Chr15:51227934 [GRCh38]
Chr15:51520131 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_000103.4(CYP19A1):c.1263+8C>A single nucleotide variant Aromatase deficiency [RCV001275587]|not provided [RCV000911815] Chr15:51212312 [GRCh38]
Chr15:51504509 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.1263+252A>C single nucleotide variant not provided [RCV001553301] Chr15:51212068 [GRCh38]
Chr15:51504265 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.859-181G>A single nucleotide variant not provided [RCV001718137] Chr15:51215413 [GRCh38]
Chr15:51507610 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.859-79A>G single nucleotide variant not provided [RCV001717437] Chr15:51215311 [GRCh38]
Chr15:51507508 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.1022-176A>C single nucleotide variant not provided [RCV001635760] Chr15:51212737 [GRCh38]
Chr15:51504934 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.297-76A>G single nucleotide variant not provided [RCV001657549] Chr15:51228009 [GRCh38]
Chr15:51520206 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.451+28_451+29insCTT insertion not provided [RCV001676512] Chr15:51227750..51227751 [GRCh38]
Chr15:51519947..51519948 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.*1545G>T single nucleotide variant Aromatase deficiency [RCV001119913] Chr15:51209263 [GRCh38]
Chr15:51501460 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.924T>G (p.Pro308=) single nucleotide variant Aromatase deficiency [RCV001119997] Chr15:51215167 [GRCh38]
Chr15:51507364 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*2607A>G single nucleotide variant Aromatase deficiency [RCV001119815] Chr15:51208201 [GRCh38]
Chr15:51500398 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*2519T>C single nucleotide variant Aromatase deficiency [RCV001121800] Chr15:51208289 [GRCh38]
Chr15:51500486 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*646C>G single nucleotide variant Aromatase deficiency [RCV001121901] Chr15:51210162 [GRCh38]
Chr15:51502359 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*543C>G single nucleotide variant Aromatase deficiency [RCV001121902] Chr15:51210265 [GRCh38]
Chr15:51502462 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.744-106T>G single nucleotide variant not provided [RCV001645116] Chr15:51215923 [GRCh38]
Chr15:51508120 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.*1441G>A single nucleotide variant Aromatase deficiency [RCV001119914] Chr15:51209367 [GRCh38]
Chr15:51501564 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn) single nucleotide variant Aromatase deficiency [RCV001119998]|not provided [RCV002556567] Chr15:51218563 [GRCh38]
Chr15:51510760 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.*1878T>C single nucleotide variant Aromatase deficiency [RCV001118383] Chr15:51208930 [GRCh38]
Chr15:51501127 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*53C>T single nucleotide variant Aromatase deficiency [RCV001118478] Chr15:51210755 [GRCh38]
Chr15:51502952 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.*1889A>T single nucleotide variant Aromatase deficiency [RCV001118381] Chr15:51208919 [GRCh38]
Chr15:51501116 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*2632T>C single nucleotide variant Aromatase deficiency [RCV001119813] Chr15:51208176 [GRCh38]
Chr15:51500373 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.*2624C>T single nucleotide variant Aromatase deficiency [RCV001119814] Chr15:51208184 [GRCh38]
Chr15:51500381 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.*2497T>C single nucleotide variant Aromatase deficiency [RCV001121801] Chr15:51208311 [GRCh38]
Chr15:51500508 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.*2589C>A single nucleotide variant Aromatase deficiency [RCV001121798] Chr15:51208219 [GRCh38]
Chr15:51500416 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1263+1G>T single nucleotide variant Aromatase deficiency [RCV001196822]|not provided [RCV003558753] Chr15:51212319 [GRCh38]
Chr15:51504516 [GRCh37]
Chr15:15q21.2		 pathogenic|likely pathogenic
NM_000103.4(CYP19A1):c.1133T>C (p.Leu378Ser) single nucleotide variant Aromatase deficiency [RCV001279024] Chr15:51212450 [GRCh38]
Chr15:51504647 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.467G>A (p.Gly156Asp) single nucleotide variant Aromatase deficiency [RCV001279031] Chr15:51222510 [GRCh38]
Chr15:51514707 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.41C>T (p.Thr14Ile) single nucleotide variant Aromatase deficiency [RCV001279038] Chr15:51242872 [GRCh38]
Chr15:51535069 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1158C>A (p.Tyr386Ter) single nucleotide variant Aromatase deficiency [RCV001332639] Chr15:51212425 [GRCh38]
Chr15:51504622 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.606C>A (p.Leu202=) single nucleotide variant not provided [RCV001414294] Chr15:51222371 [GRCh38]
Chr15:51514568 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1143T>C (p.Asp381=) single nucleotide variant not provided [RCV001392099] Chr15:51212440 [GRCh38]
Chr15:51504637 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.513T>C (p.His171=) single nucleotide variant not provided [RCV001433845] Chr15:51222464 [GRCh38]
Chr15:51514661 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.66T>A (p.Pro22=) single nucleotide variant not provided [RCV001414737] Chr15:51242847 [GRCh38]
Chr15:51535044 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.901T>C (p.Leu301=) single nucleotide variant not provided [RCV001396863] Chr15:51215190 [GRCh38]
Chr15:51507387 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1370G>A (p.Arg457Gln) single nucleotide variant Aromatase deficiency [RCV001278238]|not provided [RCV001490204] Chr15:51210950 [GRCh38]
Chr15:51503147 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_000103.4(CYP19A1):c.1221C>T (p.Phe407=) single nucleotide variant Aromatase deficiency [RCV001279023]|not provided [RCV001422102] Chr15:51212362 [GRCh38]
Chr15:51504559 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.625G>A (p.Asp209Asn) single nucleotide variant Aromatase deficiency [RCV001279029] Chr15:51222352 [GRCh38]
Chr15:51514549 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.196C>T (p.Leu66=) single nucleotide variant Aromatase deficiency [RCV001279034]|not provided [RCV003574873] Chr15:51236959 [GRCh38]
Chr15:51529156 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.237G>A (p.Arg79=) single nucleotide variant Aromatase deficiency [RCV001279032]|not provided [RCV001432047] Chr15:51236918 [GRCh38]
Chr15:51529115 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.228C>T (p.Tyr76=) single nucleotide variant Aromatase deficiency [RCV001279033]|not provided [RCV001458771] Chr15:51236927 [GRCh38]
Chr15:51529124 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.146-7G>T single nucleotide variant Aromatase deficiency [RCV001279035]|not provided [RCV002541699] Chr15:51237016 [GRCh38]
Chr15:51529213 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.138A>C (p.Ser46=) single nucleotide variant Aromatase deficiency [RCV001279036] Chr15:51242775 [GRCh38]
Chr15:51534972 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.99C>A (p.Gly33=) single nucleotide variant Aromatase deficiency [RCV001279037]|not provided [RCV001437783] Chr15:51242814 [GRCh38]
Chr15:51535011 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.146-27T>C single nucleotide variant not provided [RCV001665063] Chr15:51237036 [GRCh38]
Chr15:51529233 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.744-6T>C single nucleotide variant not provided [RCV001395931] Chr15:51215823 [GRCh38]
Chr15:51508020 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.146-5C>T single nucleotide variant not provided [RCV001413342] Chr15:51237014 [GRCh38]
Chr15:51529211 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.859-6G>T single nucleotide variant Aromatase deficiency [RCV001279026]|not provided [RCV001427542] Chr15:51215238 [GRCh38]
Chr15:51507435 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_000103.4(CYP19A1):c.637A>G (p.Ile213Val) single nucleotide variant Aromatase deficiency [RCV001279028] Chr15:51218647 [GRCh38]
Chr15:51510844 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1085dup (p.Ser363fs) duplication not provided [RCV001389232] Chr15:51212497..51212498 [GRCh38]
Chr15:51504694..51504695 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1386A>G (p.Thr462=) single nucleotide variant not provided [RCV001438556] Chr15:51210934 [GRCh38]
Chr15:51503131 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1458C>T (p.Asn486=) single nucleotide variant Aromatase deficiency [RCV001826331]|not provided [RCV001495515] Chr15:51210862 [GRCh38]
Chr15:51503059 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1326C>T (p.Ile442=) single nucleotide variant not provided [RCV001451461] Chr15:51210994 [GRCh38]
Chr15:51503191 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.213C>A (p.Gly71=) single nucleotide variant not provided [RCV001452333] Chr15:51236942 [GRCh38]
Chr15:51529139 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.885T>C (p.Asn295=) single nucleotide variant not provided [RCV001465515] Chr15:51215206 [GRCh38]
Chr15:51507403 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.552T>C (p.Tyr184=) single nucleotide variant not provided [RCV001482942] Chr15:51222425 [GRCh38]
Chr15:51514622 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1206C>T (p.His402=) single nucleotide variant not provided [RCV001486732] Chr15:51212377 [GRCh38]
Chr15:51504574 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1245T>C (p.Leu415=) single nucleotide variant not provided [RCV001439746] Chr15:51212338 [GRCh38]
Chr15:51504535 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1404T>C (p.Val468=) single nucleotide variant not provided [RCV001453094] Chr15:51210916 [GRCh38]
Chr15:51503113 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1209A>G (p.Arg403=) single nucleotide variant not provided [RCV001460569] Chr15:51212374 [GRCh38]
Chr15:51504571 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.282A>G (p.Thr94=) single nucleotide variant not provided [RCV001498169] Chr15:51236873 [GRCh38]
Chr15:51529070 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1212C>T (p.Leu404=) single nucleotide variant not provided [RCV001401143] Chr15:51212371 [GRCh38]
Chr15:51504568 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.701_702insAA (p.Phe234fs) insertion not provided [RCV001388637] Chr15:51218582..51218583 [GRCh38]
Chr15:51510779..51510780 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.546G>A (p.Ser182=) single nucleotide variant not provided [RCV001478311] Chr15:51222431 [GRCh38]
Chr15:51514628 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1047T>C (p.Asp349=) single nucleotide variant not provided [RCV001468933] Chr15:51212536 [GRCh38]
Chr15:51504733 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.723C>T (p.Tyr241=) single nucleotide variant not provided [RCV001400649] Chr15:51218561 [GRCh38]
Chr15:51510758 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.237G>C (p.Arg79=) single nucleotide variant not provided [RCV001437393] Chr15:51236918 [GRCh38]
Chr15:51529115 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.744-7T>G single nucleotide variant not provided [RCV001397727] Chr15:51215824 [GRCh38]
Chr15:51508021 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1260G>A (p.Lys420=) single nucleotide variant not provided [RCV001441534] Chr15:51212323 [GRCh38]
Chr15:51504520 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.146-9C>A single nucleotide variant not provided [RCV001405580] Chr15:51237018 [GRCh38]
Chr15:51529215 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.510A>T (p.Thr170=) single nucleotide variant not provided [RCV001405268] Chr15:51222467 [GRCh38]
Chr15:51514664 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1431G>A (p.Leu477=) single nucleotide variant not provided [RCV001431711] Chr15:51210889 [GRCh38]
Chr15:51503086 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.261C>T (p.Val87=) single nucleotide variant CYP19A1-related condition [RCV003953800]|not provided [RCV001431493] Chr15:51236894 [GRCh38]
Chr15:51529091 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.174C>T (p.Pro58=) single nucleotide variant not provided [RCV001408513] Chr15:51236981 [GRCh38]
Chr15:51529178 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.681C>T (p.Leu227=) single nucleotide variant not provided [RCV001431694] Chr15:51218603 [GRCh38]
Chr15:51510800 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.375C>T (p.Ile125=) single nucleotide variant not provided [RCV001425870] Chr15:51227855 [GRCh38]
Chr15:51520052 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.21C>T (p.Asn7=) single nucleotide variant not provided [RCV001402831] Chr15:51242892 [GRCh38]
Chr15:51535089 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1218T>C (p.Phe406=) single nucleotide variant not provided [RCV001409146] Chr15:51212365 [GRCh38]
Chr15:51504562 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1264-173T>C single nucleotide variant not provided [RCV001538182] Chr15:51211229 [GRCh38]
Chr15:51503426 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1155C>T (p.Gly385=) single nucleotide variant not provided [RCV001416854] Chr15:51212428 [GRCh38]
Chr15:51504625 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.629-8T>C single nucleotide variant not provided [RCV001394285] Chr15:51218663 [GRCh38]
Chr15:51510860 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.277G>T (p.Glu93Ter) single nucleotide variant not provided [RCV001382135] Chr15:51236878 [GRCh38]
Chr15:51529075 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.558C>T (p.Asp186=) single nucleotide variant not provided [RCV001448515] Chr15:51222419 [GRCh38]
Chr15:51514616 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.639C>T (p.Ile213=) single nucleotide variant Aromatase deficiency [RCV001836410]|not provided [RCV001457846] Chr15:51218645 [GRCh38]
Chr15:51510842 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.146-59A>G single nucleotide variant not provided [RCV001681671] Chr15:51237068 [GRCh38]
Chr15:51529265 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.858+118A>C single nucleotide variant not provided [RCV001693112] Chr15:51215585 [GRCh38]
Chr15:51507782 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.858+26C>T single nucleotide variant not provided [RCV001717436] Chr15:51215677 [GRCh38]
Chr15:51507874 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.225C>T (p.Asn75=) single nucleotide variant not provided [RCV001465939] Chr15:51236930 [GRCh38]
Chr15:51529127 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.451+79TATT[11] microsatellite not provided [RCV001613833] Chr15:51227672..51227673 [GRCh38]
Chr15:51519869..51519870 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.451+28_451+30dup duplication not provided [RCV001649253] Chr15:51227748..51227749 [GRCh38]
Chr15:51519945..51519946 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.510A>G (p.Thr170=) single nucleotide variant not provided [RCV001466526] Chr15:51222467 [GRCh38]
Chr15:51514664 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.451+79TATT[8] microsatellite not provided [RCV001674141] Chr15:51227672..51227673 [GRCh38]
Chr15:51519869..51519870 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.408C>T (p.Asn136=) single nucleotide variant not provided [RCV001481206] Chr15:51227822 [GRCh38]
Chr15:51520019 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.-38-45C>A single nucleotide variant not provided [RCV001714565] Chr15:51242995 [GRCh38]
Chr15:51535192 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.846G>A (p.Leu282=) single nucleotide variant not provided [RCV001437825] Chr15:51215715 [GRCh38]
Chr15:51507912 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.94_106dup (p.Leu36fs) duplication not provided [RCV001387974] Chr15:51242806..51242807 [GRCh38]
Chr15:51535003..51535004 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.48C>T (p.Ile16=) single nucleotide variant not provided [RCV001486228] Chr15:51242865 [GRCh38]
Chr15:51535062 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.743+36A>T single nucleotide variant not provided [RCV001519442] Chr15:51218505 [GRCh38]
Chr15:51510702 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.198G>A (p.Leu66=) single nucleotide variant not provided [RCV001504793] Chr15:51236957 [GRCh38]
Chr15:51529154 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.603G>A (p.Thr201=) single nucleotide variant not provided [RCV001486354] Chr15:51222374 [GRCh38]
Chr15:51514571 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.256C>T (p.Arg86Ter) single nucleotide variant not provided [RCV001390859] Chr15:51236899 [GRCh38]
Chr15:51529096 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1176A>G (p.Thr392=) single nucleotide variant not provided [RCV001458794] Chr15:51212407 [GRCh38]
Chr15:51504604 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.795G>A (p.Arg265=) single nucleotide variant not provided [RCV001478282] Chr15:51215766 [GRCh38]
Chr15:51507963 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.-38-994A>C single nucleotide variant not provided [RCV001523524] Chr15:51243944 [GRCh38]
Chr15:51536141 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.-38-12791G>C single nucleotide variant not provided [RCV001523526] Chr15:51255741 [GRCh38]
Chr15:51547938 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.75C>T (p.Thr25=) single nucleotide variant Aromatase deficiency [RCV001826356]|not provided [RCV001511151] Chr15:51242838 [GRCh38]
Chr15:51535035 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.324G>A (p.Lys108=) single nucleotide variant not provided [RCV001429781] Chr15:51227906 [GRCh38]
Chr15:51520103 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.744-5del deletion not provided [RCV001517417] Chr15:51215822 [GRCh38]
Chr15:51508019 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.364C>T (p.Leu122=) single nucleotide variant not provided [RCV001438573] Chr15:51227866 [GRCh38]
Chr15:51520063 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.522G>A (p.Arg174=) single nucleotide variant not provided [RCV001418255] Chr15:51222455 [GRCh38]
Chr15:51514652 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1188G>A (p.Leu396=) single nucleotide variant not provided [RCV001404757] Chr15:51212395 [GRCh38]
Chr15:51504592 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.744-7T>C single nucleotide variant not provided [RCV001499335] Chr15:51215824 [GRCh38]
Chr15:51508021 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1009C>T (p.Gln337Ter) single nucleotide variant not provided [RCV001390009] Chr15:51215082 [GRCh38]
Chr15:51507279 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.84C>T (p.Val28=) single nucleotide variant not provided [RCV001495164] Chr15:51242829 [GRCh38]
Chr15:51535026 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1098C>T (p.Tyr366=) single nucleotide variant not provided [RCV001497316] Chr15:51212485 [GRCh38]
Chr15:51504682 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.145+7C>G single nucleotide variant not provided [RCV001459848] Chr15:51242761 [GRCh38]
Chr15:51534958 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.633T>C (p.Ser211=) single nucleotide variant not provided [RCV001394347] Chr15:51218651 [GRCh38]
Chr15:51510848 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.629-16T>G single nucleotide variant not provided [RCV001673117]|not specified [RCV001528583] Chr15:51218671 [GRCh38]
Chr15:51510868 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.1107C>T (p.Val369=) single nucleotide variant not provided [RCV001456689] Chr15:51212476 [GRCh38]
Chr15:51504673 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.966T>C (p.Ile322=) single nucleotide variant not provided [RCV001399147] Chr15:51215125 [GRCh38]
Chr15:51507322 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.820G>A (p.Glu274Lys) single nucleotide variant not provided [RCV001752736] Chr15:51215741 [GRCh38]
Chr15:51507938 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.791G>A (p.Arg264His) single nucleotide variant not provided [RCV001987734] Chr15:51215770 [GRCh38]
Chr15:51507967 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.502del (p.Leu168fs) deletion not provided [RCV001987296] Chr15:51222475 [GRCh38]
Chr15:51514672 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.618C>T (p.Ile206=) single nucleotide variant not provided [RCV002104300] Chr15:51222359 [GRCh38]
Chr15:51514556 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.254T>G (p.Met85Arg) single nucleotide variant not provided [RCV001878741] Chr15:51236901 [GRCh38]
Chr15:51529098 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1289T>C (p.Phe430Ser) single nucleotide variant not provided [RCV001962447] Chr15:51211031 [GRCh38]
Chr15:51503228 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.716G>A (p.Trp239Ter) single nucleotide variant not provided [RCV001867231] Chr15:51218568 [GRCh38]
Chr15:51510765 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1200G>A (p.Arg400=) single nucleotide variant not provided [RCV001953632] Chr15:51212383 [GRCh38]
Chr15:51504580 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.596_597del (p.Thr198_Ser199insTer) microsatellite not provided [RCV001951514] Chr15:51222380..51222381 [GRCh38]
Chr15:51514577..51514578 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.433C>T (p.Arg145Ter) single nucleotide variant not provided [RCV001867475] Chr15:51227797 [GRCh38]
Chr15:51519994 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1263+5G>A single nucleotide variant not provided [RCV002051154] Chr15:51212315 [GRCh38]
Chr15:51504512 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_000103.4(CYP19A1):c.200G>A (p.Trp67Ter) single nucleotide variant not provided [RCV002012222] Chr15:51236955 [GRCh38]
Chr15:51529152 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.628+2T>C single nucleotide variant not provided [RCV002049124] Chr15:51222347 [GRCh38]
Chr15:51514544 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_000103.4(CYP19A1):c.1323C>T (p.Tyr441=) single nucleotide variant not provided [RCV001935841] Chr15:51210997 [GRCh38]
Chr15:51503194 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1126A>T (p.Lys376Ter) single nucleotide variant not provided [RCV001924715] Chr15:51212457 [GRCh38]
Chr15:51504654 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.312_334del (p.Phe104fs) deletion not provided [RCV001992966] Chr15:51227896..51227918 [GRCh38]
Chr15:51520093..51520115 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1365G>A (p.Leu455=) single nucleotide variant not provided [RCV001882958] Chr15:51210955 [GRCh38]
Chr15:51503152 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.297-8C>T single nucleotide variant not provided [RCV002075261] Chr15:51227941 [GRCh38]
Chr15:51520138 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1173G>A (p.Gly391=) single nucleotide variant not provided [RCV002074674] Chr15:51212410 [GRCh38]
Chr15:51504607 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1284G>A (p.Gln428=) single nucleotide variant not provided [RCV002191670] Chr15:51211036 [GRCh38]
Chr15:51503233 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.628+9A>G single nucleotide variant not provided [RCV002169956] Chr15:51222340 [GRCh38]
Chr15:51514537 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.219C>T (p.Ala73=) single nucleotide variant not provided [RCV002190236] Chr15:51236936 [GRCh38]
Chr15:51529133 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.444T>C (p.Phe148=) single nucleotide variant not provided [RCV002185501] Chr15:51227786 [GRCh38]
Chr15:51519983 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1512G>A (p.Ter504=) single nucleotide variant not provided [RCV002148550] Chr15:51210808 [GRCh38]
Chr15:51503005 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1152T>C (p.Asp384=) single nucleotide variant not provided [RCV002078477] Chr15:51212431 [GRCh38]
Chr15:51504628 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.858+8C>T single nucleotide variant not provided [RCV002074928] Chr15:51215695 [GRCh38]
Chr15:51507892 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.582C>G (p.Val194=) single nucleotide variant not provided [RCV002153743] Chr15:51222395 [GRCh38]
Chr15:51514592 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1170G>A (p.Lys390=) single nucleotide variant not provided [RCV002197504] Chr15:51212413 [GRCh38]
Chr15:51504610 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1230C>G (p.Pro410=) single nucleotide variant not provided [RCV002212307] Chr15:51212353 [GRCh38]
Chr15:51504550 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1266T>C (p.Val422=) single nucleotide variant not provided [RCV002087340] Chr15:51211054 [GRCh38]
Chr15:51503251 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.48C>A (p.Ile16=) single nucleotide variant not provided [RCV002135254] Chr15:51242865 [GRCh38]
Chr15:51535062 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1008C>A (p.Ile336=) single nucleotide variant not provided [RCV002147307] Chr15:51215083 [GRCh38]
Chr15:51507280 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1215G>A (p.Glu405=) single nucleotide variant not provided [RCV002172181] Chr15:51212368 [GRCh38]
Chr15:51504565 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.567C>T (p.Thr189=) single nucleotide variant not provided [RCV002171715] Chr15:51222410 [GRCh38]
Chr15:51514607 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.804A>C (p.Thr268=) single nucleotide variant not provided [RCV002213781] Chr15:51215757 [GRCh38]
Chr15:51507954 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.453T>C (p.Ala151=) single nucleotide variant not provided [RCV002193076] Chr15:51222524 [GRCh38]
Chr15:51514721 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.594C>T (p.Thr198=) single nucleotide variant not provided [RCV002079623] Chr15:51222383 [GRCh38]
Chr15:51514580 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.348C>T (p.Phe116=) single nucleotide variant not provided [RCV002194517] Chr15:51227882 [GRCh38]
Chr15:51520079 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.870C>T (p.Asp290=) single nucleotide variant not provided [RCV002150221] Chr15:51215221 [GRCh38]
Chr15:51507418 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.615G>A (p.Arg205=) single nucleotide variant not provided [RCV002137359] Chr15:51222362 [GRCh38]
Chr15:51514559 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.115T>A (p.Trp39Arg) single nucleotide variant not provided [RCV002139473] Chr15:51242798 [GRCh38]
Chr15:51534995 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.246A>G (p.Gly82=) single nucleotide variant not provided [RCV002204291] Chr15:51236909 [GRCh38]
Chr15:51529106 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.145+7C>T single nucleotide variant not provided [RCV002182084] Chr15:51242761 [GRCh38]
Chr15:51534958 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1263+10C>G single nucleotide variant not provided [RCV002123276] Chr15:51212310 [GRCh38]
Chr15:51504507 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1272T>C (p.Tyr424=) single nucleotide variant not provided [RCV002101891] Chr15:51211048 [GRCh38]
Chr15:51503245 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1021+9T>A single nucleotide variant not provided [RCV002160203] Chr15:51215061 [GRCh38]
Chr15:51507258 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1326C>A (p.Ile442=) single nucleotide variant not provided [RCV002119970] Chr15:51210994 [GRCh38]
Chr15:51503191 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1125C>T (p.Arg375=) single nucleotide variant not provided [RCV002181735] Chr15:51212458 [GRCh38]
Chr15:51504655 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.132A>G (p.Thr44=) single nucleotide variant not provided [RCV002164133] Chr15:51242781 [GRCh38]
Chr15:51534978 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.296+9G>C single nucleotide variant not provided [RCV002138395] Chr15:51236850 [GRCh38]
Chr15:51529047 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1021+7del deletion not provided [RCV002159297] Chr15:51215063 [GRCh38]
Chr15:51507260 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1497G>A (p.Arg499=) single nucleotide variant not provided [RCV002178803] Chr15:51210823 [GRCh38]
Chr15:51503020 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.840T>C (p.Thr280=) single nucleotide variant not provided [RCV002178835] Chr15:51215721 [GRCh38]
Chr15:51507918 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.858+9C>G single nucleotide variant not provided [RCV002162702] Chr15:51215694 [GRCh38]
Chr15:51507891 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.858+9C>T single nucleotide variant not provided [RCV002139176] Chr15:51215694 [GRCh38]
Chr15:51507891 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1134A>G (p.Leu378=) single nucleotide variant not provided [RCV002141123] Chr15:51212449 [GRCh38]
Chr15:51504646 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1485A>G (p.Arg495=) single nucleotide variant not provided [RCV002120348] Chr15:51210835 [GRCh38]
Chr15:51503032 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.669A>G (p.Ala223=) single nucleotide variant not provided [RCV002161769] Chr15:51218615 [GRCh38]
Chr15:51510812 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.864T>C (p.Arg288=) single nucleotide variant not provided [RCV002099020] Chr15:51215227 [GRCh38]
Chr15:51507424 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.474T>C (p.Val158=) single nucleotide variant not provided [RCV002121196] Chr15:51222503 [GRCh38]
Chr15:51514700 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1022-4A>G single nucleotide variant not provided [RCV002180343] Chr15:51212565 [GRCh38]
Chr15:51504762 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.629-5T>C single nucleotide variant not provided [RCV002138990] Chr15:51218660 [GRCh38]
Chr15:51510857 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1320G>A (p.Lys440=) single nucleotide variant not provided [RCV002139297] Chr15:51211000 [GRCh38]
Chr15:51503197 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1149C>T (p.Ile383=) single nucleotide variant not provided [RCV002103801] Chr15:51212434 [GRCh38]
Chr15:51504631 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.210C>T (p.Ile70=) single nucleotide variant not provided [RCV002157230] Chr15:51236945 [GRCh38]
Chr15:51529142 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.876_877del (p.Asn295fs) deletion not provided [RCV003115631] Chr15:51215214..51215215 [GRCh38]
Chr15:51507411..51507412 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1154G>A (p.Gly385Asp) single nucleotide variant not provided [RCV003149275] Chr15:51212429 [GRCh38]
Chr15:51504626 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1232A>G (p.Asn411Ser) single nucleotide variant Aromatase deficiency [RCV003230825] Chr15:51212351 [GRCh38]
Chr15:51504548 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.916G>A (p.Ala306Thr) single nucleotide variant not provided [RCV002275413] Chr15:51215175 [GRCh38]
Chr15:51507372 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1093C>T (p.Arg365Trp) single nucleotide variant not specified [RCV003236293] Chr15:51212490 [GRCh38]
Chr15:51504687 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.469del (p.Val158fs) deletion Aromatase deficiency [RCV000019400] Chr15:51222508 [GRCh38]
Chr15:51514705 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1462C>T (p.Leu488=) single nucleotide variant not provided [RCV002726428] Chr15:51210858 [GRCh38]
Chr15:51503055 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.365_366dup (p.Gln123fs) duplication not provided [RCV002858073] Chr15:51227863..51227864 [GRCh38]
Chr15:51520060..51520061 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1433C>T (p.Ser478Phe) single nucleotide variant not provided [RCV003073788] Chr15:51210887 [GRCh38]
Chr15:51503084 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_207381.4(TNFAIP8L3):c.34G>C (p.Val12Leu) single nucleotide variant not specified [RCV004233810] Chr15:51105143 [GRCh38]
Chr15:51397340 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.296_296+1del deletion not provided [RCV002838889] Chr15:51236858..51236859 [GRCh38]
Chr15:51529055..51529056 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_000103.4(CYP19A1):c.1194T>C (p.Ile398=) single nucleotide variant not provided [RCV002866001] Chr15:51212389 [GRCh38]
Chr15:51504586 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1179C>T (p.Asn393=) single nucleotide variant not provided [RCV002866055] Chr15:51212404 [GRCh38]
Chr15:51504601 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001311175.2(TNFAIP8L3):c.603G>C (p.Glu201Asp) single nucleotide variant not specified [RCV004216353] Chr15:51057893 [GRCh38]
Chr15:51350090 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.146-8T>C single nucleotide variant not provided [RCV002863803] Chr15:51237017 [GRCh38]
Chr15:51529214 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.911T>G (p.Leu304Arg) single nucleotide variant not provided [RCV003076347] Chr15:51215180 [GRCh38]
Chr15:51507377 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.787dup (p.Arg263fs) duplication not provided [RCV003014617] Chr15:51215773..51215774 [GRCh38]
Chr15:51507970..51507971 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.955C>T (p.Leu319=) single nucleotide variant not provided [RCV002914296] Chr15:51215136 [GRCh38]
Chr15:51507333 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001311175.2(TNFAIP8L3):c.452G>A (p.Arg151Gln) single nucleotide variant not specified [RCV004230134] Chr15:51058044 [GRCh38]
Chr15:51350241 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.711T>G (p.Ile237Met) single nucleotide variant Inborn genetic diseases [RCV002910535] Chr15:51218573 [GRCh38]
Chr15:51510770 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1069G>A (p.Glu357Lys) single nucleotide variant Inborn genetic diseases [RCV002844827] Chr15:51212514 [GRCh38]
Chr15:51504711 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.501C>G (p.Ser167=) single nucleotide variant not provided [RCV002912804] Chr15:51222476 [GRCh38]
Chr15:51514673 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.466G>A (p.Gly156Ser) single nucleotide variant not provided [RCV002948416] Chr15:51222511 [GRCh38]
Chr15:51514708 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.72C>T (p.Ala24=) single nucleotide variant not provided [RCV002690978] Chr15:51242841 [GRCh38]
Chr15:51535038 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1492G>A (p.Asp498Asn) single nucleotide variant Inborn genetic diseases [RCV002782031] Chr15:51210828 [GRCh38]
Chr15:51503025 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001311175.2(TNFAIP8L3):c.292A>G (p.Ser98Gly) single nucleotide variant not specified [RCV004153702] Chr15:51058204 [GRCh38]
Chr15:51350401 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.207G>T (p.Gly69=) single nucleotide variant not provided [RCV003053780] Chr15:51236948 [GRCh38]
Chr15:51529145 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.629-8T>A single nucleotide variant not provided [RCV002824319] Chr15:51218663 [GRCh38]
Chr15:51510860 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.795del (p.Ile266fs) deletion not provided [RCV002848230] Chr15:51215766 [GRCh38]
Chr15:51507963 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1264-4A>T single nucleotide variant not provided [RCV003038988] Chr15:51211060 [GRCh38]
Chr15:51503257 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.80_81insTGCTGCCTCCATGCC (p.Pro27_Val28insAlaAlaSerMetPro) insertion not provided [RCV003077541] Chr15:51242832..51242833 [GRCh38]
Chr15:51535029..51535030 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001311175.2(TNFAIP8L3):c.481A>G (p.Ile161Val) single nucleotide variant not specified [RCV004171619] Chr15:51058015 [GRCh38]
Chr15:51350212 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1058T>A (p.Leu353Ter) single nucleotide variant not provided [RCV002824278] Chr15:51212525 [GRCh38]
Chr15:51504722 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1077C>T (p.Phe359=) single nucleotide variant not provided [RCV002690909] Chr15:51212506 [GRCh38]
Chr15:51504703 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1114T>C (p.Leu372=) single nucleotide variant not provided [RCV003036307] Chr15:51212469 [GRCh38]
Chr15:51504666 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1347C>T (p.Ala449=) single nucleotide variant not provided [RCV003053595] Chr15:51210973 [GRCh38]
Chr15:51503170 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.448A>G (p.Lys150Glu) single nucleotide variant not provided [RCV003100299] Chr15:51227782 [GRCh38]
Chr15:51519979 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001311175.2(TNFAIP8L3):c.-90G>A single nucleotide variant not specified [RCV004205823] Chr15:51094685 [GRCh38]
Chr15:51386882 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.84C>G (p.Val28=) single nucleotide variant not provided [RCV002797382] Chr15:51242829 [GRCh38]
Chr15:51535026 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1350C>T (p.Ile450=) single nucleotide variant not provided [RCV002895131] Chr15:51210970 [GRCh38]
Chr15:51503167 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.16C>T (p.Leu6=) single nucleotide variant not provided [RCV002667987] Chr15:51242897 [GRCh38]
Chr15:51535094 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1264-8T>C single nucleotide variant not provided [RCV002875831] Chr15:51211064 [GRCh38]
Chr15:51503261 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.744-4C>A single nucleotide variant not provided [RCV002626501] Chr15:51215821 [GRCh38]
Chr15:51508018 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.73A>G (p.Thr25Ala) single nucleotide variant not provided [RCV003085596] Chr15:51242840 [GRCh38]
Chr15:51535037 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.283_286del (p.Ile96fs) deletion not provided [RCV002876492] Chr15:51236869..51236872 [GRCh38]
Chr15:51529066..51529069 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.145+8A>G single nucleotide variant not provided [RCV002801668] Chr15:51242760 [GRCh38]
Chr15:51534957 [GRCh37]
Chr15:15q21.2		 likely benign
NM_207381.4(TNFAIP8L3):c.14G>A (p.Arg5Gln) single nucleotide variant not specified [RCV004188536] Chr15:51105163 [GRCh38]
Chr15:51397360 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.33T>C (p.Tyr11=) single nucleotide variant not provided [RCV002851756] Chr15:51242880 [GRCh38]
Chr15:51535077 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.87del (p.Leu30fs) deletion not provided [RCV002982890] Chr15:51242826 [GRCh38]
Chr15:51535023 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1497G>T (p.Arg499Ser) single nucleotide variant Inborn genetic diseases [RCV002873554] Chr15:51210823 [GRCh38]
Chr15:51503020 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.452-1333G>T single nucleotide variant Pulmonary disease, chronic obstructive, susceptibility to [RCV002508842] Chr15:51223858 [GRCh38]
Chr15:51516055 [GRCh37]
Chr15:15q21.2		 association
NM_000103.4(CYP19A1):c.597T>C (p.Ser199=) single nucleotide variant not provided [RCV002871740] Chr15:51222380 [GRCh38]
Chr15:51514577 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.712del (p.Ser238fs) deletion not provided [RCV003023194] Chr15:51218572 [GRCh38]
Chr15:51510769 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001311175.2(TNFAIP8L3):c.-86C>G single nucleotide variant not specified [RCV004229060] Chr15:51094681 [GRCh38]
Chr15:51386878 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.915C>A (p.Ile305=) single nucleotide variant not provided [RCV002871739] Chr15:51215176 [GRCh38]
Chr15:51507373 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1028_1031del (p.Arg343fs) microsatellite not provided [RCV003026004] Chr15:51212552..51212555 [GRCh38]
Chr15:51504749..51504752 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_001311175.2(TNFAIP8L3):c.578A>G (p.Glu193Gly) single nucleotide variant not specified [RCV004163274] Chr15:51057918 [GRCh38]
Chr15:51350115 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.898A>G (p.Ile300Val) single nucleotide variant Inborn genetic diseases [RCV002742979] Chr15:51215193 [GRCh38]
Chr15:51507390 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1293C>T (p.Gly431=) single nucleotide variant not provided [RCV002572966] Chr15:51211027 [GRCh38]
Chr15:51503224 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.912G>C (p.Leu304=) single nucleotide variant not provided [RCV003023654] Chr15:51215179 [GRCh38]
Chr15:51507376 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.948C>G (p.Phe316Leu) single nucleotide variant not provided [RCV003058730] Chr15:51215143 [GRCh38]
Chr15:51507340 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001311175.2(TNFAIP8L3):c.349A>C (p.Met117Leu) single nucleotide variant not specified [RCV004207529] Chr15:51058147 [GRCh38]
Chr15:51350344 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.1386A>T (p.Thr462=) single nucleotide variant not provided [RCV003030423] Chr15:51210934 [GRCh38]
Chr15:51503131 [GRCh37]
Chr15:15q21.2		 likely benign
NM_207381.4(TNFAIP8L3):c.143C>G (p.Ser48Cys) single nucleotide variant not specified [RCV004124462] Chr15:51105034 [GRCh38]
Chr15:51397231 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.629-8del deletion not provided [RCV002647758] Chr15:51218663 [GRCh38]
Chr15:51510860 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.1149C>A (p.Ile383=) single nucleotide variant not provided [RCV002937370] Chr15:51212434 [GRCh38]
Chr15:51504631 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.235C>A (p.Arg79=) single nucleotide variant not provided [RCV002770916] Chr15:51236920 [GRCh38]
Chr15:51529117 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1440C>T (p.His480=) single nucleotide variant not provided [RCV003044442] Chr15:51210880 [GRCh38]
Chr15:51503077 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.743+1G>C single nucleotide variant not provided [RCV002857205] Chr15:51218540 [GRCh38]
Chr15:51510737 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_000103.4(CYP19A1):c.1137A>G (p.Glu379=) single nucleotide variant not provided [RCV002600395] Chr15:51212446 [GRCh38]
Chr15:51504643 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.146-2A>G single nucleotide variant not provided [RCV002856304] Chr15:51237011 [GRCh38]
Chr15:51529208 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_000103.4(CYP19A1):c.296+9G>A single nucleotide variant not provided [RCV002876930] Chr15:51236850 [GRCh38]
Chr15:51529047 [GRCh37]
Chr15:15q21.2		 likely benign
NM_207381.4(TNFAIP8L3):c.125C>T (p.Thr42Ile) single nucleotide variant not specified [RCV004237166] Chr15:51105052 [GRCh38]
Chr15:51397249 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.93C>A (p.Leu31=) single nucleotide variant not provided [RCV003011230] Chr15:51242820 [GRCh38]
Chr15:51535017 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1164G>A (p.Val388=) single nucleotide variant not provided [RCV003087935] Chr15:51212419 [GRCh38]
Chr15:51504616 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.150T>A (p.Pro50=) single nucleotide variant not provided [RCV002942263] Chr15:51237005 [GRCh38]
Chr15:51529202 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.253A>G (p.Met85Val) single nucleotide variant not provided [RCV003067489] Chr15:51236902 [GRCh38]
Chr15:51529099 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.187G>A (p.Gly63Ser) single nucleotide variant not provided [RCV002634219] Chr15:51236968 [GRCh38]
Chr15:51529165 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001311175.2(TNFAIP8L3):c.542A>G (p.Asp181Gly) single nucleotide variant not specified [RCV004248376] Chr15:51057954 [GRCh38]
Chr15:51350151 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001311175.2(TNFAIP8L3):c.-54G>A single nucleotide variant not specified [RCV004265388] Chr15:51094649 [GRCh38]
Chr15:51386846 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.145+418G>T single nucleotide variant Letrozole response [RCV003330338] Chr15:51242350 [GRCh38]
Chr15:51534547 [GRCh37]
Chr15:15q21.2		 drug response
NM_000103.4(CYP19A1):c.233A>G (p.Asn78Ser) single nucleotide variant not provided [RCV003332599] Chr15:51236922 [GRCh38]
Chr15:51529119 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.146-11A>T single nucleotide variant not provided [RCV003543145] Chr15:51237020 [GRCh38]
Chr15:51529217 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1022-20C>T single nucleotide variant not provided [RCV003691877] Chr15:51212581 [GRCh38]
Chr15:51504778 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.525G>A (p.Leu175=) single nucleotide variant not provided [RCV003570336] Chr15:51222452 [GRCh38]
Chr15:51514649 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.385G>T (p.Glu129Ter) single nucleotide variant not provided [RCV003543692] Chr15:51227845 [GRCh38]
Chr15:51520042 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1413A>T (p.Ile471=) single nucleotide variant not provided [RCV003570976] Chr15:51210907 [GRCh38]
Chr15:51503104 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.297-20A>G single nucleotide variant not provided [RCV003875555] Chr15:51227953 [GRCh38]
Chr15:51520150 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.628+15A>C single nucleotide variant not provided [RCV003696700] Chr15:51222334 [GRCh38]
Chr15:51514531 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.897C>T (p.Cys299=) single nucleotide variant not provided [RCV003578862] Chr15:51215194 [GRCh38]
Chr15:51507391 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.146-14G>C single nucleotide variant not provided [RCV003713367] Chr15:51237023 [GRCh38]
Chr15:51529220 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.540T>C (p.Asn180=) single nucleotide variant not provided [RCV003831504] Chr15:51222437 [GRCh38]
Chr15:51514634 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.462C>T (p.Gly154=) single nucleotide variant not provided [RCV003849099] Chr15:51222515 [GRCh38]
Chr15:51514712 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.642G>A (p.Val214=) single nucleotide variant not provided [RCV003695152] Chr15:51218642 [GRCh38]
Chr15:51510839 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1377C>T (p.His459=) single nucleotide variant not provided [RCV003876947] Chr15:51210943 [GRCh38]
Chr15:51503140 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1278C>T (p.Tyr426=) single nucleotide variant not provided [RCV003692563] Chr15:51211042 [GRCh38]
Chr15:51503239 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.628+18C>G single nucleotide variant not provided [RCV003689818] Chr15:51222331 [GRCh38]
Chr15:51514528 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.297-7T>C single nucleotide variant not provided [RCV003713920] Chr15:51227940 [GRCh38]
Chr15:51520137 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.629-12T>C single nucleotide variant not provided [RCV003739262] Chr15:51218667 [GRCh38]
Chr15:51510864 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.519C>T (p.Asp173=) single nucleotide variant not provided [RCV003689925] Chr15:51222458 [GRCh38]
Chr15:51514655 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.629-17dup duplication not provided [RCV003738711] Chr15:51218671..51218672 [GRCh38]
Chr15:51510868..51510869 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1264-7T>C single nucleotide variant not provided [RCV003879907] Chr15:51211063 [GRCh38]
Chr15:51503260 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.652dup (p.Gln218fs) duplication not provided [RCV003578364] Chr15:51218631..51218632 [GRCh38]
Chr15:51510828..51510829 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.629-15T>C single nucleotide variant not provided [RCV003663129] Chr15:51218670 [GRCh38]
Chr15:51510867 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.452-13G>A single nucleotide variant not provided [RCV003578692] Chr15:51222538 [GRCh38]
Chr15:51514735 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.786A>G (p.Lys262=) single nucleotide variant not provided [RCV003576482] Chr15:51215775 [GRCh38]
Chr15:51507972 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.534G>A (p.Val178=) single nucleotide variant not provided [RCV003714345] Chr15:51222443 [GRCh38]
Chr15:51514640 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1264-18G>A single nucleotide variant not provided [RCV003543940] Chr15:51211074 [GRCh38]
Chr15:51503271 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.858+20G>T single nucleotide variant not provided [RCV003687933] Chr15:51215683 [GRCh38]
Chr15:51507880 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.339C>T (p.Ser113=) single nucleotide variant not provided [RCV003664240] Chr15:51227891 [GRCh38]
Chr15:51520088 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1021+15A>C single nucleotide variant not provided [RCV003699660] Chr15:51215055 [GRCh38]
Chr15:51507252 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.135C>T (p.Ser45=) single nucleotide variant not provided [RCV003580570] Chr15:51242778 [GRCh38]
Chr15:51534975 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1263+1G>A single nucleotide variant Aromatase excess syndrome [RCV003989852]|not provided [RCV003665625] Chr15:51212319 [GRCh38]
Chr15:51504516 [GRCh37]
Chr15:15q21.2		 pathogenic|likely pathogenic
NM_000103.4(CYP19A1):c.145+10T>C single nucleotide variant not provided [RCV003856499] Chr15:51242758 [GRCh38]
Chr15:51534955 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.451+17_451+20del microsatellite not provided [RCV003835167] Chr15:51227759..51227762 [GRCh38]
Chr15:51519956..51519959 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.126G>A (p.Glu42=) single nucleotide variant not provided [RCV003698046] Chr15:51242787 [GRCh38]
Chr15:51534984 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.296+12C>A single nucleotide variant not provided [RCV003726524] Chr15:51236847 [GRCh38]
Chr15:51529044 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.859-17A>G single nucleotide variant not provided [RCV003810666] Chr15:51215249 [GRCh38]
Chr15:51507446 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1022-20_1022-15dup duplication not provided [RCV003835088] Chr15:51212575..51212576 [GRCh38]
Chr15:51504772..51504773 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.671G>A (p.Trp224Ter) single nucleotide variant not provided [RCV003702410] Chr15:51218613 [GRCh38]
Chr15:51510810 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.438C>T (p.Pro146=) single nucleotide variant not provided [RCV003663635] Chr15:51227792 [GRCh38]
Chr15:51519989 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.855A>G (p.Ala285=) single nucleotide variant not provided [RCV003701658] Chr15:51215706 [GRCh38]
Chr15:51507903 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.296+19G>A single nucleotide variant not provided [RCV003579818] Chr15:51236840 [GRCh38]
Chr15:51529037 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1024G>T (p.Glu342Ter) single nucleotide variant not provided [RCV003560780] Chr15:51212559 [GRCh38]
Chr15:51504756 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.243T>C (p.Tyr81=) single nucleotide variant not provided [RCV003669454] Chr15:51236912 [GRCh38]
Chr15:51529109 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1416G>A (p.Gln472=) single nucleotide variant not provided [RCV003726048] Chr15:51210904 [GRCh38]
Chr15:51503101 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1021+14A>G single nucleotide variant not provided [RCV003667105] Chr15:51215056 [GRCh38]
Chr15:51507253 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.743+11C>T single nucleotide variant not provided [RCV003811952] Chr15:51218530 [GRCh38]
Chr15:51510727 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1264-4A>G single nucleotide variant not provided [RCV003697503] Chr15:51211060 [GRCh38]
Chr15:51503257 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.858+19T>A single nucleotide variant not provided [RCV003725435] Chr15:51215684 [GRCh38]
Chr15:51507881 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.969A>G (p.Ala323=) single nucleotide variant not provided [RCV003814600] Chr15:51215122 [GRCh38]
Chr15:51507319 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.146-12C>A single nucleotide variant not provided [RCV003666414] Chr15:51237021 [GRCh38]
Chr15:51529218 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.629-19G>C single nucleotide variant not provided [RCV003549701] Chr15:51218674 [GRCh38]
Chr15:51510871 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1374C>T (p.Phe458=) single nucleotide variant not provided [RCV003559856] Chr15:51210946 [GRCh38]
Chr15:51503143 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.156C>T (p.Tyr52=) single nucleotide variant not provided [RCV003832321] Chr15:51236999 [GRCh38]
Chr15:51529196 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.810G>A (p.Glu270=) single nucleotide variant not provided [RCV003834464] Chr15:51215751 [GRCh38]
Chr15:51507948 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1264-6del deletion not provided [RCV003667511] Chr15:51211062 [GRCh38]
Chr15:51503259 [GRCh37]
Chr15:15q21.2		 benign
NM_000103.4(CYP19A1):c.451+14T>A single nucleotide variant not provided [RCV003813907] Chr15:51227765 [GRCh38]
Chr15:51519962 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1026G>A (p.Glu342=) single nucleotide variant not provided [RCV003711998] Chr15:51212557 [GRCh38]
Chr15:51504754 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1287A>G (p.Pro429=) single nucleotide variant not provided [RCV003562869] Chr15:51211033 [GRCh38]
Chr15:51503230 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.296+17T>C single nucleotide variant not provided [RCV003728818] Chr15:51236842 [GRCh38]
Chr15:51529039 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.859-12C>G single nucleotide variant not provided [RCV003864295] Chr15:51215244 [GRCh38]
Chr15:51507441 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1380G>A (p.Val460=) single nucleotide variant not provided [RCV003563726] Chr15:51210940 [GRCh38]
Chr15:51503137 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.858+20G>A single nucleotide variant not provided [RCV003674970] Chr15:51215683 [GRCh38]
Chr15:51507880 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1093C>A (p.Arg365=) single nucleotide variant not provided [RCV003819100] Chr15:51212490 [GRCh38]
Chr15:51504687 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.859-12C>A single nucleotide variant not provided [RCV003542701] Chr15:51215244 [GRCh38]
Chr15:51507441 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.957A>G (p.Leu319=) single nucleotide variant not provided [RCV003733267] Chr15:51215134 [GRCh38]
Chr15:51507331 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1248A>G (p.Glu416=) single nucleotide variant not provided [RCV003733520] Chr15:51212335 [GRCh38]
Chr15:51504532 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.146-17T>C single nucleotide variant not provided [RCV003737568] Chr15:51237026 [GRCh38]
Chr15:51529223 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.563del (p.Val187_Leu188insTer) deletion not provided [RCV003552196] Chr15:51222414 [GRCh38]
Chr15:51514611 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1383G>A (p.Lys461=) single nucleotide variant not provided [RCV003737705] Chr15:51210937 [GRCh38]
Chr15:51503134 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1363C>T (p.Leu455=) single nucleotide variant not provided [RCV003737734] Chr15:51210957 [GRCh38]
Chr15:51503154 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.859-18del deletion not provided [RCV003737557] Chr15:51215250 [GRCh38]
Chr15:51507447 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.351C>G (p.Gly117=) single nucleotide variant not provided [RCV003848110] Chr15:51227879 [GRCh38]
Chr15:51520076 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1419G>A (p.Lys473=) single nucleotide variant not provided [RCV003868620] Chr15:51210901 [GRCh38]
Chr15:51503098 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1479C>T (p.Thr493=) single nucleotide variant not provided [RCV003553187] Chr15:51210841 [GRCh38]
Chr15:51503038 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.743+15T>G single nucleotide variant not provided [RCV003737742] Chr15:51218526 [GRCh38]
Chr15:51510723 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.629-13T>G single nucleotide variant not provided [RCV003684602] Chr15:51218668 [GRCh38]
Chr15:51510865 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.743+16T>G single nucleotide variant not provided [RCV003870571] Chr15:51218525 [GRCh38]
Chr15:51510722 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.571C>T (p.Leu191=) single nucleotide variant not provided [RCV003682141] Chr15:51222406 [GRCh38]
Chr15:51514603 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.744-11T>A single nucleotide variant not provided [RCV003722644] Chr15:51215828 [GRCh38]
Chr15:51508025 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.296+12C>T single nucleotide variant not provided [RCV003685041] Chr15:51236847 [GRCh38]
Chr15:51529044 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1317A>C (p.Gly439=) single nucleotide variant not provided [RCV003721509] Chr15:51211003 [GRCh38]
Chr15:51503200 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1251T>C (p.Asn417=) single nucleotide variant not provided [RCV003733519] Chr15:51212332 [GRCh38]
Chr15:51504529 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.744-20T>C single nucleotide variant not provided [RCV003736147] Chr15:51215837 [GRCh38]
Chr15:51508034 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1021+20_1021+23del microsatellite not provided [RCV003734529] Chr15:51215047..51215050 [GRCh38]
Chr15:51507244..51507247 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1176A>C (p.Thr392=) single nucleotide variant not provided [RCV003845679] Chr15:51212407 [GRCh38]
Chr15:51504604 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1022-11T>G single nucleotide variant not provided [RCV003552718] Chr15:51212572 [GRCh38]
Chr15:51504769 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.858+8C>G single nucleotide variant not provided [RCV003841798] Chr15:51215695 [GRCh38]
Chr15:51507892 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.261C>A (p.Val87=) single nucleotide variant not provided [RCV003554387] Chr15:51236894 [GRCh38]
Chr15:51529091 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.743+9T>C single nucleotide variant not provided [RCV003703819] Chr15:51218532 [GRCh38]
Chr15:51510729 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.231C>T (p.Tyr77=) single nucleotide variant not provided [RCV003706363] Chr15:51236924 [GRCh38]
Chr15:51529121 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.486A>G (p.Thr162=) single nucleotide variant not provided [RCV003670817] Chr15:51222491 [GRCh38]
Chr15:51514688 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.438C>G (p.Pro146=) single nucleotide variant not provided [RCV003550377] Chr15:51227792 [GRCh38]
Chr15:51519989 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.220dup (p.Cys74fs) duplication not provided [RCV003680225] Chr15:51236934..51236935 [GRCh38]
Chr15:51529131..51529132 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_000103.4(CYP19A1):c.1021+13C>A single nucleotide variant not provided [RCV003732803] Chr15:51215057 [GRCh38]
Chr15:51507254 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.531G>A (p.Glu177=) single nucleotide variant not provided [RCV003678449] Chr15:51222446 [GRCh38]
Chr15:51514643 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.146-13A>G single nucleotide variant not provided [RCV003566123] Chr15:51237022 [GRCh38]
Chr15:51529219 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1281T>C (p.Phe427=) single nucleotide variant not provided [RCV003568213] Chr15:51211039 [GRCh38]
Chr15:51503236 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1410C>T (p.Ser470=) single nucleotide variant not provided [RCV003866387] Chr15:51210910 [GRCh38]
Chr15:51503107 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.792C>T (p.Arg264=) single nucleotide variant not provided [RCV003731280] Chr15:51215769 [GRCh38]
Chr15:51507966 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1257A>C (p.Ala419=) single nucleotide variant not provided [RCV003733518] Chr15:51212326 [GRCh38]
Chr15:51504523 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.903G>A (p.Leu301=) single nucleotide variant not provided [RCV003553755] Chr15:51215188 [GRCh38]
Chr15:51507385 [GRCh37]
Chr15:15q21.2		 likely benign
NM_001311175.2(TNFAIP8L3):c.139A>G (p.Met47Val) single nucleotide variant not specified [RCV004473096] Chr15:51058357 [GRCh38]
Chr15:51350554 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_207381.4(TNFAIP8L3):c.34G>T (p.Val12Phe) single nucleotide variant not specified [RCV004473095] Chr15:51105143 [GRCh38]
Chr15:51397340 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001311175.2(TNFAIP8L3):c.368A>G (p.Tyr123Cys) single nucleotide variant not specified [RCV004473097] Chr15:51058128 [GRCh38]
Chr15:51350325 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001311175.2(TNFAIP8L3):c.527C>G (p.Thr176Ser) single nucleotide variant not specified [RCV004473098] Chr15:51057969 [GRCh38]
Chr15:51350166 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_001311175.2(TNFAIP8L3):c.545G>C (p.Gly182Ala) single nucleotide variant not specified [RCV004473099] Chr15:51057951 [GRCh38]
Chr15:51350148 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_207381.4(TNFAIP8L3):c.80A>G (p.Asn27Ser) single nucleotide variant not specified [RCV004473100] Chr15:51105097 [GRCh38]
Chr15:51397294 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1008C>T (p.Ile336=) single nucleotide variant not provided [RCV003838639] Chr15:51215083 [GRCh38]
Chr15:51507280 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.493G>A (p.Ala165Thr) single nucleotide variant Aromatase deficiency [RCV001279030] Chr15:51222484 [GRCh38]
Chr15:51514681 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_000103.4(CYP19A1):c.612G>A (p.Leu204=) single nucleotide variant not provided [RCV002116369] Chr15:51222365 [GRCh38]
Chr15:51514562 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.1359A>T (p.Thr453=) single nucleotide variant not provided [RCV002774982] Chr15:51210961 [GRCh38]
Chr15:51503158 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.146-7G>A single nucleotide variant not provided [RCV003073309] Chr15:51237016 [GRCh38]
Chr15:51529213 [GRCh37]
Chr15:15q21.2		 likely benign
NM_000103.4(CYP19A1):c.859-9A>G single nucleotide variant Aromatase deficiency [RCV003140636] Chr15:51215241 [GRCh38]
Chr15:51507438 [GRCh37]
Chr15:15q21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:305
Count of miRNA genes:279
Interacting mature miRNAs:288
Transcripts:ENST00000559909
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2 1 5 1 1
Low 166 6 33 23 115 26 258 42 50 58 559 201 8 2 77 3
Below cutoff 748 569 413 152 348 112 1590 454 896 163 313 457 42 290 989

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000559909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,037,488 - 51,293,912 (+)Ensembl
RefSeq Acc Id: NR_146310
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,037,488 - 51,293,912 (+)NCBI
T2T-CHM13v2.01548,845,125 - 49,101,683 (+)NCBI
Sequence:
Promoters
RGD ID:15096887
Promoter ID:EPDNEWNC_H1717
Type:initiation region
Name:MIR4713HG_1
Description:MIR4713 host gene [Source:HGNC Symbol;Acc:HGNC:53124]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,037,454 - 51,037,514EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC MIR4713HG COSMIC
Ensembl Genes ENSG00000259240 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000559909 ENTREZGENE
GTEx ENSG00000259240 GTEx
HGNC ID HGNC:53124 ENTREZGENE
Human Proteome Map MIR4713HG Human Proteome Map
NCBI Gene MIR4713HG ENTREZGENE
RNAcentral URS00005B6D58 RNACentral