TRPM6 (transient receptor potential cation channel subfamily M member 6) - Rat Genome Database

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Gene: TRPM6 (transient receptor potential cation channel subfamily M member 6) Homo sapiens
Analyze
Symbol: TRPM6
Name: transient receptor potential cation channel subfamily M member 6
RGD ID: 1320558
HGNC Page HGNC:17995
Description: Predicted to enable monoatomic cation channel activity. Involved in response to toxic substance. Predicted to be located in plasma membrane. Predicted to be active in apical plasma membrane. Implicated in intestinal hypomagnesemia 1 and metal metabolism disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CHAK2; channel kinase 2; HMGX; HOMG; HOMG1; HSH; melastatin-related TRP cation channel 6; transient receptor potential cation channel, subfamily M, member 6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38974,722,495 - 74,887,921 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl974,722,495 - 74,888,094 (-)EnsemblGRCh38hg38GRCh38
GRCh37977,337,411 - 77,502,837 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36976,527,231 - 76,692,830 (-)NCBINCBI36Build 36hg18NCBI36
Build 34974,566,964 - 74,732,564NCBI
Celera947,911,447 - 48,077,035 (-)NCBICelera
Cytogenetic Map9q21.13NCBI
HuRef947,159,778 - 47,325,152 (-)NCBIHuRef
CHM1_1977,483,852 - 77,649,496 (-)NCBICHM1_1
T2T-CHM13v2.0986,875,552 - 87,041,025 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Schlingmann KP, etal., Nat Genet. 2002 Jun;31(2):166-70. Epub 2002 May 28.
Additional References at PubMed
PMID:8125298   PMID:9285786   PMID:10021370   PMID:11357414   PMID:12032570   PMID:14576148   PMID:14976260   PMID:15164053   PMID:16075242   PMID:16150690   PMID:16382100   PMID:16636202  
PMID:17098283   PMID:17217065   PMID:17575980   PMID:18029348   PMID:18192217   PMID:18258429   PMID:18301276   PMID:18365021   PMID:18490453   PMID:18660673   PMID:18675813   PMID:19073827  
PMID:19149903   PMID:19329436   PMID:19695239   PMID:19937979   PMID:20395377   PMID:20700443   PMID:20875900   PMID:21073857   PMID:21669885   PMID:21873635   PMID:22180838   PMID:22671428  
PMID:22733750   PMID:22982920   PMID:23689795   PMID:23942199   PMID:24385424   PMID:24650431   PMID:24858416   PMID:24906182   PMID:25277194   PMID:25796343   PMID:26058915   PMID:26179995  
PMID:26563869   PMID:26759217   PMID:27925186   PMID:27926584   PMID:28220887   PMID:28784805   PMID:29912157   PMID:30144020   PMID:30272358   PMID:30739590   PMID:30948266   PMID:31400133  
PMID:31505788   PMID:34326388   PMID:34857952   PMID:35216094   PMID:35256949   PMID:36168627   PMID:37759402  


Genomics

Comparative Map Data
TRPM6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38974,722,495 - 74,887,921 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl974,722,495 - 74,888,094 (-)EnsemblGRCh38hg38GRCh38
GRCh37977,337,411 - 77,502,837 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36976,527,231 - 76,692,830 (-)NCBINCBI36Build 36hg18NCBI36
Build 34974,566,964 - 74,732,564NCBI
Celera947,911,447 - 48,077,035 (-)NCBICelera
Cytogenetic Map9q21.13NCBI
HuRef947,159,778 - 47,325,152 (-)NCBIHuRef
CHM1_1977,483,852 - 77,649,496 (-)NCBICHM1_1
T2T-CHM13v2.0986,875,552 - 87,041,025 (-)NCBIT2T-CHM13v2.0
Trpm6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391918,707,566 - 18,869,885 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1918,727,347 - 18,869,875 (+)EnsemblGRCm39 Ensembl
GRCm381918,730,177 - 18,892,521 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1918,749,983 - 18,892,511 (+)EnsemblGRCm38mm10GRCm38
MGSCv371918,824,473 - 18,967,001 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361918,817,002 - 18,959,534 (+)NCBIMGSCv36mm8
Celera1919,438,745 - 19,578,144 (+)NCBICelera
Cytogenetic Map19BNCBI
cM Map1913.21NCBI
Trpm6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81225,559,528 - 225,747,106 (+)NCBIGRCr8
mRatBN7.21216,136,407 - 216,320,523 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1216,170,038 - 216,320,520 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01234,478,908 - 234,631,264 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1234,479,289 - 234,596,971 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01241,578,982 - 241,729,073 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41222,363,324 - 222,502,191 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11222,493,769 - 222,666,592 (+)NCBI
Celera1213,469,067 - 213,615,762 (+)NCBICelera
Cytogenetic Map1q51NCBI
Trpm6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555124,179,651 - 4,321,902 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555124,179,194 - 4,323,523 (+)NCBIChiLan1.0ChiLan1.0
TRPM6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21173,887,787 - 74,054,681 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1973,893,728 - 74,060,622 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0949,949,883 - 50,114,169 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1973,576,594 - 73,742,195 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl973,576,594 - 73,742,195 (-)Ensemblpanpan1.1panPan2
TRPM6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1183,250,870 - 83,437,044 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl183,308,788 - 83,436,644 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha183,772,476 - 83,901,214 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0183,758,383 - 83,891,749 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl183,740,158 - 83,887,142 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1183,486,316 - 83,642,749 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0183,204,818 - 83,361,350 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0183,989,135 - 84,122,089 (+)NCBIUU_Cfam_GSD_1.0
Trpm6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947130,536,862 - 130,665,571 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650310,508,989 - 10,616,972 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650310,508,989 - 10,637,424 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPM6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1227,811,204 - 227,963,309 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11227,809,511 - 228,037,923 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21254,708,592 - 254,863,990 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRPM6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11285,773,663 - 85,954,807 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1285,773,344 - 85,903,293 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603874,218,052 - 74,377,383 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trpm6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248112,345,698 - 2,465,385 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248112,342,084 - 2,494,601 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRPM6
536 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
TRPM6, IVS18DS, G-A, +1 single nucleotide variant Hypomagnesemia 1, intestinal [RCV000003759] Chr9:9q22 pathogenic
NM_017662.5(TRPM6):c.1280del (p.His427fs) deletion Intestinal hypomagnesemia 1 [RCV000003760] Chr9:74816697 [GRCh38]
Chr9:77431613 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.3779_3791del (p.Glu1260fs) deletion Intestinal hypomagnesemia 1 [RCV000003761] Chr9:74762880..74762892 [GRCh38]
Chr9:77377796..77377808 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.2208del (p.Arg736fs) deletion Intestinal hypomagnesemia 1 [RCV000003762] Chr9:74800284 [GRCh38]
Chr9:77415200 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.2009+1G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV000003763] Chr9:74801897 [GRCh38]
Chr9:77416813 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.1010+5G>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV000003766] Chr9:74821664 [GRCh38]
Chr9:77436580 [GRCh37]
Chr9:9q21.13		 pathogenic
TRPM6, IVS23AS, A-G, -68 single nucleotide variant Intestinal hypomagnesemia 1 [RCV000003767] Chr9:9q22 pathogenic
NM_017662.5(TRPM6):c.2313_2314delinsAG (p.Pro772Ala) indel not provided [RCV000722609] Chr9:74796818..74796819 [GRCh38]
Chr9:77411734..77411735 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3435dup (p.Leu1146fs) duplication not provided [RCV000723108] Chr9:74771803..74771804 [GRCh38]
Chr9:77386719..77386720 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1769C>G (p.Ser590Ter) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000003758] Chr9:74802138 [GRCh38]
Chr9:77417054 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.1420C>T (p.Arg474Ter) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000003764] Chr9:74812322 [GRCh38]
Chr9:77427238 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.166C>T (p.Arg56Ter) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000003765]|not provided [RCV002512721] Chr9:74842330 [GRCh38]
Chr9:77457246 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.422C>T (p.Ser141Leu) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000003768] Chr9:74840146 [GRCh38]
Chr9:77455062 [GRCh37]
Chr9:9q21.13		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1 copy number loss See cases [RCV000052906] Chr9:72224348..77332127 [GRCh38]
Chr9:74839264..79947043 [GRCh37]
Chr9:74029084..79136863 [NCBI36]
Chr9:9q21.13-21.2		 pathogenic
GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1 copy number loss See cases [RCV000052907] Chr9:73706686..80370629 [GRCh38]
Chr9:76321602..82985544 [GRCh37]
Chr9:75511422..82175364 [NCBI36]
Chr9:9q21.13-21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_017662.4(TRPM6):c.5804C>T (p.Ser1935Phe) single nucleotide variant Malignant melanoma [RCV000068699] Chr9:74732709 [GRCh38]
Chr9:77347625 [GRCh37]
Chr9:76537445 [NCBI36]
Chr9:9q21.13		 not provided
NM_017662.4(TRPM6):c.2729G>A (p.Trp910Ter) single nucleotide variant Malignant melanoma [RCV000068700] Chr9:74786064 [GRCh38]
Chr9:77400980 [GRCh37]
Chr9:76590800 [NCBI36]
Chr9:9q21.13		 not provided
NM_017662.4(TRPM6):c.1491G>A (p.Val497=) single nucleotide variant Malignant melanoma [RCV000068701] Chr9:74810821 [GRCh38]
Chr9:77425737 [GRCh37]
Chr9:76615557 [NCBI36]
Chr9:9q21.13		 not provided
NM_017662.4(TRPM6):c.585C>T (p.Ser195=) single nucleotide variant Malignant melanoma [RCV000068702] Chr9:74834082 [GRCh38]
Chr9:77448998 [GRCh37]
Chr9:76638818 [NCBI36]
Chr9:9q21.13		 not provided
NM_017662.4(TRPM6):c.568G>A (p.Ala190Thr) single nucleotide variant Malignant melanoma [RCV000068703] Chr9:74834099 [GRCh38]
Chr9:77449015 [GRCh37]
Chr9:76638835 [NCBI36]
Chr9:9q21.13		 not provided
NM_017662.4(TRPM6):c.1656A>T (p.Ser552=) single nucleotide variant Malignant melanoma [RCV000061955] Chr9:74803869 [GRCh38]
Chr9:77418785 [GRCh37]
Chr9:76608605 [NCBI36]
Chr9:9q21.13		 not provided
NM_017662.4(TRPM6):c.670-878G>A single nucleotide variant Lung cancer [RCV000108380] Chr9:74828827 [GRCh38]
Chr9:77443743 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5600A>G (p.His1867Arg) single nucleotide variant not provided [RCV000087228] Chr9:74738583 [GRCh38]
Chr9:77353499 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2392-2A>G single nucleotide variant not provided [RCV000122553] Chr9:74792772 [GRCh38]
Chr9:77407688 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 copy number loss See cases [RCV000133632] Chr9:68454847..76252863 [GRCh38]
Chr9:71130848..78867779 [GRCh37]
Chr9:70259583..78057599 [NCBI36]
Chr9:9q21.11-21.13		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
NM_017662.5(TRPM6):c.4988A>G (p.Gln1663Arg) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169309]|not provided [RCV000949753]|not specified [RCV000202868] Chr9:74752287 [GRCh38]
Chr9:77367203 [GRCh37]
Chr9:9q21.13		 benign|likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9q21.13(chr9:74282586-75968293)x3 copy number gain See cases [RCV000141917] Chr9:74282586..75968293 [GRCh38]
Chr9:76897502..78583209 [GRCh37]
Chr9:76087322..77773029 [NCBI36]
Chr9:9q21.13		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_017662.5(TRPM6):c.3173A>G (p.Tyr1058Cys) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000193181] Chr9:74782398 [GRCh38]
Chr9:77397314 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.2667+1G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV000207483] Chr9:74788613 [GRCh38]
Chr9:77403529 [GRCh37]
Chr9:9q21.13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_017662.5(TRPM6):c.*802A>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV000283987] Chr9:74723811 [GRCh38]
Chr9:77338727 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.6033G>A (p.Thr2011=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000321937]|not provided [RCV000961163]|not specified [RCV001796020] Chr9:74724649 [GRCh38]
Chr9:77339565 [GRCh37]
Chr9:9q21.13		 benign|uncertain significance
NM_017662.5(TRPM6):c.*1380T>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV000367770] Chr9:74723233 [GRCh38]
Chr9:77338149 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.113+12A>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV000268832]|not provided [RCV002058808] Chr9:74858657 [GRCh38]
Chr9:77473573 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.*740G>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV000285331] Chr9:74723873 [GRCh38]
Chr9:77338789 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2517T>C (p.Ile839=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000302467] Chr9:74792645 [GRCh38]
Chr9:77407561 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5216C>G (p.Thr1739Ser) single nucleotide variant Inborn genetic diseases [RCV002523803]|Intestinal hypomagnesemia 1 [RCV000323089]|not provided [RCV002523802] Chr9:74739994 [GRCh38]
Chr9:77354910 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*737A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV000345032] Chr9:74723876 [GRCh38]
Chr9:77338792 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*302T>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV000370639] Chr9:74724311 [GRCh38]
Chr9:77339227 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5360G>T (p.Ser1787Ile) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000286852] Chr9:74739850 [GRCh38]
Chr9:77354766 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.766G>A (p.Val256Met) single nucleotide variant Inborn genetic diseases [RCV003168582]|Intestinal hypomagnesemia 1 [RCV000303912] Chr9:74827853 [GRCh38]
Chr9:77442769 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4750A>G (p.Lys1584Glu) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000347459]|not provided [RCV001535372] Chr9:74761731 [GRCh38]
Chr9:77376647 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.*710AT[3] microsatellite Intestinal hypomagnesemia 1 [RCV000398938] Chr9:74723896..74723897 [GRCh38]
Chr9:77338812..77338813 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4764T>C (p.Asn1588=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000287794]|not provided [RCV001613238] Chr9:74761717 [GRCh38]
Chr9:77376633 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.4569A>T (p.Thr1523=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000348324]|not provided [RCV001637008] Chr9:74762102 [GRCh38]
Chr9:77377018 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.*913T>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV000373467] Chr9:74723700 [GRCh38]
Chr9:77338616 [GRCh37]
Chr9:9q21.13		 benign|uncertain significance
NM_017662.5(TRPM6):c.*788AT[8] microsatellite Intestinal hypomagnesemia 1 [RCV000373902] Chr9:74723808..74723809 [GRCh38]
Chr9:77338724..77338725 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1207+6T>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV000399256]|not provided [RCV000961934] Chr9:74816886 [GRCh38]
Chr9:77431802 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.*1868C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV000272099] Chr9:74722745 [GRCh38]
Chr9:77337661 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2437A>T (p.Asn813Tyr) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000326754] Chr9:74792725 [GRCh38]
Chr9:77407641 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2319G>C (p.Gln773His) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000272758]|TRPM6-related condition [RCV003932523]|not provided [RCV000879630] Chr9:74796813 [GRCh38]
Chr9:77411729 [GRCh37]
Chr9:9q21.13		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017662.5(TRPM6):c.*1997C>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV000306867] Chr9:74722616 [GRCh38]
Chr9:77337532 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2124T>G (p.Leu708=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000327901]|not provided [RCV001613239]|not specified [RCV001528871] Chr9:74800368 [GRCh38]
Chr9:77415284 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5936-8C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV000376590] Chr9:74724754 [GRCh38]
Chr9:77339670 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.4(TRPM6):c.-167A>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV000329903]|not provided [RCV001672735] Chr9:74888023 [GRCh38]
Chr9:77502939 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.1647A>G (p.Arg549=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000352878]|not provided [RCV002523804] Chr9:74803878 [GRCh38]
Chr9:77418794 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.*108C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV000353511] Chr9:74724505 [GRCh38]
Chr9:77339421 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.4(TRPM6):c.-163A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV000274737]|not provided [RCV001643116] Chr9:74888019 [GRCh38]
Chr9:77502935 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.*551A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV000309976] Chr9:74724062 [GRCh38]
Chr9:77338978 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*1489G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV000331877] Chr9:74723124 [GRCh38]
Chr9:77338040 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4221C>T (p.His1407=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000401639]|not provided [RCV000947179] Chr9:74762450 [GRCh38]
Chr9:77377366 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.4(TRPM6):c.-99G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV000309904] Chr9:74887955 [GRCh38]
Chr9:77502871 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*1084C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV000332865] Chr9:74723529 [GRCh38]
Chr9:77338445 [GRCh37]
Chr9:9q21.13		 benign|uncertain significance
NM_017662.5(TRPM6):c.3211A>G (p.Asn1071Asp) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000355443] Chr9:74776075 [GRCh38]
Chr9:77390991 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2428C>T (p.Leu810=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000381360]|not provided [RCV000965107] Chr9:74792734 [GRCh38]
Chr9:77407650 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.5171C>T (p.Thr1724Ile) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000382190]|TRPM6-related condition [RCV003957874]|not provided [RCV002058807] Chr9:74742590 [GRCh38]
Chr9:77357506 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.*238G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV000276376]|not provided [RCV001692079] Chr9:74724375 [GRCh38]
Chr9:77339291 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.1851G>A (p.Leu617=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000293199]|not provided [RCV001613240] Chr9:74802056 [GRCh38]
Chr9:77416972 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.4591C>T (p.Arg1531Cys) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000293450]|not provided [RCV001865251] Chr9:74762080 [GRCh38]
Chr9:77376996 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*513A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV000311290] Chr9:74724100 [GRCh38]
Chr9:77339016 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4707A>T (p.Ala1569=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000383409]|not provided [RCV000893706] Chr9:74761774 [GRCh38]
Chr9:77376690 [GRCh37]
Chr9:9q21.13		 benign|likely benign|uncertain significance
NM_017662.5(TRPM6):c.*1222C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV000277981] Chr9:74723391 [GRCh38]
Chr9:77338307 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.4177G>A (p.Val1393Ile) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000313266]|not provided [RCV001672733] Chr9:74762494 [GRCh38]
Chr9:77377410 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1309C>T (p.Pro437Ser) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000335197] Chr9:74812433 [GRCh38]
Chr9:77427349 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3821A>G (p.Gln1274Arg) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000335649]|not provided [RCV000895862] Chr9:74762850 [GRCh38]
Chr9:77377766 [GRCh37]
Chr9:9q21.13		 benign|uncertain significance
NM_017662.5(TRPM6):c.*2017G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV000407041] Chr9:74722596 [GRCh38]
Chr9:77337512 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*886C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV000279010] Chr9:74723727 [GRCh38]
Chr9:77338643 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1872T>C (p.Ala624=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000387558]|not provided [RCV001643115] Chr9:74802035 [GRCh38]
Chr9:77416951 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.*82G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV000263374] Chr9:74724531 [GRCh38]
Chr9:77339447 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1444-15T>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV000280111] Chr9:74810883 [GRCh38]
Chr9:77425799 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.954C>T (p.Gly318=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000339070]|not provided [RCV001709641] Chr9:74821725 [GRCh38]
Chr9:77436641 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.*787T>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV000338997] Chr9:74723826 [GRCh38]
Chr9:77338742 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2445T>C (p.His815=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000361902]|TRPM6-related condition [RCV003957875]|not provided [RCV003736749] Chr9:74792717 [GRCh38]
Chr9:77407633 [GRCh37]
Chr9:9q21.13		 benign|likely benign|uncertain significance
NM_017662.5(TRPM6):c.1639C>T (p.His547Tyr) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000388736]|not provided [RCV000967130] Chr9:74803886 [GRCh38]
Chr9:77418802 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.263C>T (p.Thr88Met) single nucleotide variant Inborn genetic diseases [RCV002524605]|Intestinal hypomagnesemia 1 [RCV000363307]|not provided [RCV002524604] Chr9:74842233 [GRCh38]
Chr9:77457149 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.4(TRPM6):c.-161A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV000364697] Chr9:74888017 [GRCh38]
Chr9:77502933 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*742AT[4] microsatellite Intestinal hypomagnesemia 1 [RCV000390067] Chr9:74723862..74723863 [GRCh38]
Chr9:77338778..77338779 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.945G>A (p.Val315=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000390422] Chr9:74821734 [GRCh38]
Chr9:77436650 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2786G>T (p.Trp929Leu) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000266026] Chr9:74786007 [GRCh38]
Chr9:77400923 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*156A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV000317426] Chr9:74724457 [GRCh38]
Chr9:77339373 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*527G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV000364751] Chr9:74724086 [GRCh38]
Chr9:77339002 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*516A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV000391896] Chr9:74724097 [GRCh38]
Chr9:77339013 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2442G>A (p.Gln814=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000267032]|not provided [RCV001672734] Chr9:74792720 [GRCh38]
Chr9:77407636 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1014G>T (p.Met338Ile) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000300199]|TRPM6-related condition [RCV003922654]|not provided [RCV000974463] Chr9:74820424 [GRCh38]
Chr9:77435340 [GRCh37]
Chr9:9q21.13		 benign|likely benign|uncertain significance
NM_017662.5(TRPM6):c.3514C>A (p.Arg1172=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000300631]|not provided [RCV000959070] Chr9:74771725 [GRCh38]
Chr9:77386641 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.*843G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV000320047] Chr9:74723770 [GRCh38]
Chr9:77338686 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*1914A>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV000366159] Chr9:74722699 [GRCh38]
Chr9:77337615 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3798G>A (p.Glu1266=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000392254] Chr9:74762873 [GRCh38]
Chr9:77377789 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2539-157T>C single nucleotide variant not provided [RCV001565712] Chr9:74788899 [GRCh38]
Chr9:77403815 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5296A>G (p.Met1766Val) single nucleotide variant Inborn genetic diseases [RCV003266988] Chr9:74739914 [GRCh38]
Chr9:77354830 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2903C>A (p.Thr968Asn) single nucleotide variant Inborn genetic diseases [RCV003268530] Chr9:74785890 [GRCh38]
Chr9:77400806 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2958del (p.Ile986fs) deletion Intestinal hypomagnesemia 1 [RCV003314375] Chr9:74782815 [GRCh38]
Chr9:77397731 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.5631G>C (p.Lys1877Asn) single nucleotide variant Inborn genetic diseases [RCV002555957]|Intestinal hypomagnesemia 1 [RCV002482164]|not provided [RCV001092270] Chr9:74738552 [GRCh38]
Chr9:77353468 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3204del (p.Phe1069fs) deletion not provided [RCV000722662] Chr9:74782367 [GRCh38]
Chr9:77397283 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_017662.5(TRPM6):c.2920-806_3404-1965del deletion Abnormality of the eye [RCV000504942]|Rod-cone dystrophy [RCV001003860] Chr9:74773800..74783659 [GRCh38]
Chr9:77388716..77398575 [GRCh37]
Chr9:9q21.13		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_017662.5(TRPM6):c.2495A>G (p.Tyr832Cys) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000463560] Chr9:74792667 [GRCh38]
Chr9:77407583 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_017662.5(TRPM6):c.3357C>A (p.Cys1119Ter) single nucleotide variant Intestinal hypomagnesemia 1 [RCV000491206] Chr9:74775929 [GRCh38]
Chr9:77390845 [GRCh37]
Chr9:9q21.13		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_017662.5(TRPM6):c.499G>T (p.Ala167Ser) single nucleotide variant not provided [RCV000658047] Chr9:74840069 [GRCh38]
Chr9:77454985 [GRCh37]
Chr9:9q21.13		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32		 pathogenic
GRCh37/hg19 9q21.13(chr9:77449280-78560923)x1 copy number loss not provided [RCV000683153] Chr9:77449280..78560923 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1 copy number loss not provided [RCV000683165] Chr9:74534790..84014155 [GRCh37]
Chr9:9q21.13-21.31		 pathogenic
NM_017662.5(TRPM6):c.1639-171_1639-170insT insertion not provided [RCV001539515] Chr9:74804056..74804057 [GRCh38]
Chr9:77418972..77418973 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3095-17A>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV002502002]|not provided [RCV001665321] Chr9:74782493 [GRCh38]
Chr9:77397409 [GRCh37]
Chr9:9q21.13		 benign|likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_017662.5(TRPM6):c.1444-255A>T single nucleotide variant not provided [RCV001537553] Chr9:74811123 [GRCh38]
Chr9:77426039 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2539-186C>T single nucleotide variant not provided [RCV001645763] Chr9:74788928 [GRCh38]
Chr9:77403844 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3537-142G>A single nucleotide variant not provided [RCV001678861] Chr9:74763276 [GRCh38]
Chr9:77378192 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5083+53C>T single nucleotide variant not provided [RCV001612554] Chr9:74747836 [GRCh38]
Chr9:77362752 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1309-294C>G single nucleotide variant not provided [RCV001666256] Chr9:74812727 [GRCh38]
Chr9:77427643 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5936-35T>A single nucleotide variant not provided [RCV001648666] Chr9:74724781 [GRCh38]
Chr9:77339697 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1134+283A>C single nucleotide variant not provided [RCV001568074] Chr9:74820021 [GRCh38]
Chr9:77434937 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.330+284A>G single nucleotide variant not provided [RCV001681840] Chr9:74841882 [GRCh38]
Chr9:77456798 [GRCh37]
Chr9:9q21.13		 benign
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
NM_017662.5(TRPM6):c.3210-68A>G single nucleotide variant not provided [RCV001707498] Chr9:74776144 [GRCh38]
Chr9:77391060 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3536+270T>C single nucleotide variant not provided [RCV001546975] Chr9:74771433 [GRCh38]
Chr9:77386349 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.118A>T (p.Thr40Ser) single nucleotide variant Inborn genetic diseases [RCV003353187]|Intestinal hypomagnesemia 1 [RCV001166507] Chr9:74855561 [GRCh38]
Chr9:77470477 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1832T>A (p.Leu611Gln) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166968] Chr9:74802075 [GRCh38]
Chr9:77416991 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.544+129TCCT[9] microsatellite not provided [RCV001645415] Chr9:74839856..74839859 [GRCh38]
Chr9:77454772..77454775 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3863G>A (p.Gly1288Glu) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166379]|not provided [RCV002068018] Chr9:74762808 [GRCh38]
Chr9:77377724 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.2919+130A>G single nucleotide variant not provided [RCV001690828] Chr9:74785744 [GRCh38]
Chr9:77400660 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5481C>T (p.Cys1827=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002502661]|not provided [RCV000901642] Chr9:74739729 [GRCh38]
Chr9:77354645 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1731+7T>C single nucleotide variant not provided [RCV000928525] Chr9:74803787 [GRCh38]
Chr9:77418703 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2649T>C (p.Ala883=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169378]|not provided [RCV000900745] Chr9:74788632 [GRCh38]
Chr9:77403548 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.511G>A (p.Gly171Arg) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169454]|TRPM6-related condition [RCV003950403]|not provided [RCV000892393] Chr9:74840057 [GRCh38]
Chr9:77454973 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.5424T>C (p.Pro1808=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002489432]|TRPM6-related condition [RCV003943250]|not provided [RCV000975798] Chr9:74739786 [GRCh38]
Chr9:77354702 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.2478G>A (p.Pro826=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002489434]|not provided [RCV000976030] Chr9:74792684 [GRCh38]
Chr9:77407600 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.378A>G (p.Leu126=) single nucleotide variant not provided [RCV000976150] Chr9:74840190 [GRCh38]
Chr9:77455106 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2336T>A (p.Phe779Tyr) single nucleotide variant not provided [RCV000903770] Chr9:74796796 [GRCh38]
Chr9:77411712 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.268A>T (p.Ser90Cys) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166505]|not provided [RCV000904736] Chr9:74842228 [GRCh38]
Chr9:77457144 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.104A>G (p.Asn35Ser) single nucleotide variant not provided [RCV000905864] Chr9:74858678 [GRCh38]
Chr9:77473594 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5112A>G (p.Gln1704=) single nucleotide variant not provided [RCV000924757] Chr9:74744117 [GRCh38]
Chr9:77359033 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.756T>C (p.Asp252=) single nucleotide variant not provided [RCV000907914] Chr9:74827863 [GRCh38]
Chr9:77442779 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4719G>A (p.Ala1573=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002487960]|not provided [RCV000895305] Chr9:74761762 [GRCh38]
Chr9:77376678 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3288C>T (p.His1096=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002495530]|not provided [RCV000917737] Chr9:74775998 [GRCh38]
Chr9:77390914 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3450G>A (p.Glu1150=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168612]|not provided [RCV000917425] Chr9:74771789 [GRCh38]
Chr9:77386705 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.1450G>A (p.Gly484Arg) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168683]|not provided [RCV000886732] Chr9:74810862 [GRCh38]
Chr9:77425778 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5550A>G (p.Gln1850=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002489361]|not provided [RCV000961933] Chr9:74739387 [GRCh38]
Chr9:77354303 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.3726G>A (p.Lys1242=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166896]|not provided [RCV000900902] Chr9:74762945 [GRCh38]
Chr9:77377861 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.2067C>G (p.Arg689=) single nucleotide variant not provided [RCV000977859] Chr9:74800425 [GRCh38]
Chr9:77415341 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.705C>T (p.Leu235=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002502886]|not provided [RCV000942419] Chr9:74827914 [GRCh38]
Chr9:77442830 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3580G>A (p.Val1194Met) single nucleotide variant Inborn genetic diseases [RCV003266759] Chr9:74763091 [GRCh38]
Chr9:77378007 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3643del (p.Ser1215fs) deletion Intestinal hypomagnesemia 1 [RCV003314359] Chr9:74763028 [GRCh38]
Chr9:77377944 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.2811G>A (p.Ala937=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002502755]|not provided [RCV000914146] Chr9:74785982 [GRCh38]
Chr9:77400898 [GRCh37]
Chr9:9q21.13		 benign|likely benign
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
NM_017662.5(TRPM6):c.*1114G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166781] Chr9:74723499 [GRCh38]
Chr9:77338415 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*1072C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166782] Chr9:74723541 [GRCh38]
Chr9:77338457 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1929C>G (p.Ile643Met) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166967] Chr9:74801978 [GRCh38]
Chr9:77416894 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.885C>T (p.Gly295=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169449] Chr9:74821794 [GRCh38]
Chr9:77436710 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*235C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166317] Chr9:74724378 [GRCh38]
Chr9:77339294 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3261C>T (p.Asn1087=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168616]|not provided [RCV002557453] Chr9:74776025 [GRCh38]
Chr9:77390941 [GRCh37]
Chr9:9q21.13		 benign|uncertain significance
NM_017662.5(TRPM6):c.*189G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166319] Chr9:74724424 [GRCh38]
Chr9:77339340 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.34-15A>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166508]|not provided [RCV002557431] Chr9:74858763 [GRCh38]
Chr9:77473679 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.*762A>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168497] Chr9:74723851 [GRCh38]
Chr9:77338767 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*746A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168498] Chr9:74723867 [GRCh38]
Chr9:77338783 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*61T>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166836] Chr9:74724552 [GRCh38]
Chr9:77339468 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3681T>C (p.Ala1227=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166897]|TRPM6-related condition [RCV003973122] Chr9:74762990 [GRCh38]
Chr9:77377906 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.1644G>C (p.Gln548His) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166970] Chr9:74803881 [GRCh38]
Chr9:77418797 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*238G>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166316] Chr9:74724375 [GRCh38]
Chr9:77339291 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*162A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166321] Chr9:74724451 [GRCh38]
Chr9:77339367 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4153G>T (p.Val1385Phe) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166377] Chr9:74762518 [GRCh38]
Chr9:77377434 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*1887G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169177] Chr9:74722726 [GRCh38]
Chr9:77337642 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*739G>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169233] Chr9:74723874 [GRCh38]
Chr9:77338790 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5709G>A (p.Leu1903=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002502877]|not provided [RCV000939763] Chr9:74738474 [GRCh38]
Chr9:77353390 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5016T>C (p.Ser1672=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169307]|not provided [RCV000918698] Chr9:74750705 [GRCh38]
Chr9:77365621 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.2796T>C (p.Pro932=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169374] Chr9:74785997 [GRCh38]
Chr9:77400913 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*1245A>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166260] Chr9:74723368 [GRCh38]
Chr9:77338284 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.-20G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166509] Chr9:74887876 [GRCh38]
Chr9:77502792 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*1160C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166780] Chr9:74723453 [GRCh38]
Chr9:77338369 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.*919G>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166783] Chr9:74723694 [GRCh38]
Chr9:77338610 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1751A>G (p.His584Arg) single nucleotide variant Inborn genetic diseases [RCV002558642]|Intestinal hypomagnesemia 1 [RCV001166969]|not provided [RCV001873547] Chr9:74802156 [GRCh38]
Chr9:77417072 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5104del (p.Ser1702fs) deletion Intestinal hypomagnesemia 1 [RCV001169929] Chr9:74744125 [GRCh38]
Chr9:77359041 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5339G>A (p.Arg1780His) single nucleotide variant Inborn genetic diseases [RCV002557450]|Intestinal hypomagnesemia 1 [RCV001168552] Chr9:74739871 [GRCh38]
Chr9:77354787 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*806T>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168494] Chr9:74723807 [GRCh38]
Chr9:77338723 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3403+13A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168613]|not provided [RCV002558670] Chr9:74775870 [GRCh38]
Chr9:77390786 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.3330C>T (p.His1110=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168615] Chr9:74775956 [GRCh38]
Chr9:77390872 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4673-9T>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169310]|not provided [RCV002558680] Chr9:74761817 [GRCh38]
Chr9:77376733 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.5488-4G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168551]|not provided [RCV000914169] Chr9:74739453 [GRCh38]
Chr9:77354369 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.4896T>G (p.Phe1632Leu) single nucleotide variant TRPM6-related condition [RCV003950801]|not provided [RCV000914225] Chr9:74755363 [GRCh38]
Chr9:77370279 [GRCh37]
Chr9:9q21.13		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_017662.5(TRPM6):c.*234G>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166318] Chr9:74724379 [GRCh38]
Chr9:77339295 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1434C>T (p.Leu478=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168684] Chr9:74812308 [GRCh38]
Chr9:77427224 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3460G>A (p.Val1154Met) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166900] Chr9:74771779 [GRCh38]
Chr9:77386695 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*670A>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169234] Chr9:74723943 [GRCh38]
Chr9:77338859 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2776G>A (p.Val926Ile) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169375]|TRPM6-related condition [RCV003908423]|not provided [RCV002067837] Chr9:74786017 [GRCh38]
Chr9:77400933 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.821C>T (p.Ser274Phe) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169451]|not provided [RCV001751298] Chr9:74827798 [GRCh38]
Chr9:77442714 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2010-138del deletion not provided [RCV001643680] Chr9:74800620 [GRCh38]
Chr9:77415536 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.544+129TCCT[12] microsatellite not provided [RCV001686755] Chr9:74839855..74839856 [GRCh38]
Chr9:77454771..77454772 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3404-187A>G single nucleotide variant not provided [RCV001671621] Chr9:74772022 [GRCh38]
Chr9:77386938 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3094+76A>G single nucleotide variant not provided [RCV001723077] Chr9:74782603 [GRCh38]
Chr9:77397519 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2010-140_2010-138del deletion not provided [RCV001561635] Chr9:74800620..74800622 [GRCh38]
Chr9:77415536..77415538 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1443+42A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001838717]|not provided [RCV001637472] Chr9:74812257 [GRCh38]
Chr9:77427173 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.841+78G>A single nucleotide variant not provided [RCV001639133] Chr9:74827700 [GRCh38]
Chr9:77442616 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1497+205G>C single nucleotide variant not provided [RCV001637583] Chr9:74810610 [GRCh38]
Chr9:77425526 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.114-242A>T single nucleotide variant not provided [RCV001595370] Chr9:74855807 [GRCh38]
Chr9:77470723 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3210-133C>T single nucleotide variant not provided [RCV001676113] Chr9:74776209 [GRCh38]
Chr9:77391125 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5135-182C>A single nucleotide variant not provided [RCV001562654] Chr9:74742808 [GRCh38]
Chr9:77357724 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.545-274G>A single nucleotide variant not provided [RCV001649963] Chr9:74834396 [GRCh38]
Chr9:77449312 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1497+93T>G single nucleotide variant not provided [RCV001613705] Chr9:74810722 [GRCh38]
Chr9:77425638 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1732-100G>C single nucleotide variant not provided [RCV001673412] Chr9:74802275 [GRCh38]
Chr9:77417191 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5935+261C>T single nucleotide variant not provided [RCV001656811] Chr9:74727978 [GRCh38]
Chr9:77342894 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5488-49G>C single nucleotide variant not provided [RCV001547015] Chr9:74739498 [GRCh38]
Chr9:77354414 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.669+34C>T single nucleotide variant not provided [RCV001559417] Chr9:74833964 [GRCh38]
Chr9:77448880 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4608C>T (p.Phe1536=) single nucleotide variant not provided [RCV000939307] Chr9:74762063 [GRCh38]
Chr9:77376979 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1421G>A (p.Arg474Gln) single nucleotide variant TRPM6-related condition [RCV003958289]|not provided [RCV000909074] Chr9:74812321 [GRCh38]
Chr9:77427237 [GRCh37]
Chr9:9q21.13		 benign|likely benign|conflicting interpretations of pathogenicity
NM_017662.5(TRPM6):c.2767G>T (p.Ala923Ser) single nucleotide variant Inborn genetic diseases [RCV002537538]|Intestinal hypomagnesemia 1 [RCV001169376]|not provided [RCV000900449] Chr9:74786026 [GRCh38]
Chr9:77400942 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.3801C>A (p.Ile1267=) single nucleotide variant not provided [RCV000908065] Chr9:74762870 [GRCh38]
Chr9:77377786 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.633T>C (p.Gly211=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169452]|not provided [RCV000970402] Chr9:74834034 [GRCh38]
Chr9:77448950 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.1497+7T>C single nucleotide variant not provided [RCV000932799] Chr9:74810808 [GRCh38]
Chr9:77425724 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.390G>A (p.Glu130=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002502703]|not provided [RCV000906592] Chr9:74840178 [GRCh38]
Chr9:77455094 [GRCh37]
Chr9:9q21.13		 benign|likely benign
NM_017662.5(TRPM6):c.1224G>A (p.Ala408=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002502711]|not provided [RCV000907552] Chr9:74816753 [GRCh38]
Chr9:77431669 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3375C>T (p.His1125=) single nucleotide variant not provided [RCV000929357] Chr9:74775911 [GRCh38]
Chr9:77390827 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3289G>A (p.Glu1097Lys) single nucleotide variant not provided [RCV000908924] Chr9:74775997 [GRCh38]
Chr9:77390913 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.816C>T (p.Tyr272=) single nucleotide variant not provided [RCV000918599] Chr9:74827803 [GRCh38]
Chr9:77442719 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.*1625A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166258] Chr9:74722988 [GRCh38]
Chr9:77337904 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*1303G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166259] Chr9:74723310 [GRCh38]
Chr9:77338226 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*180C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166320] Chr9:74724433 [GRCh38]
Chr9:77339349 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4508C>T (p.Ser1503Leu) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166375] Chr9:74762163 [GRCh38]
Chr9:77377079 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2362G>A (p.Ala788Thr) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166436] Chr9:74796770 [GRCh38]
Chr9:77411686 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3550T>C (p.Tyr1184His) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166898] Chr9:74763121 [GRCh38]
Chr9:77378037 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1731G>A (p.Lys577=) single nucleotide variant not provided [RCV000912960] Chr9:74803794 [GRCh38]
Chr9:77418710 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.673G>A (p.Val225Met) single nucleotide variant Inborn genetic diseases [RCV002726258]|not provided [RCV002735146] Chr9:74827946 [GRCh38]
Chr9:77442862 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.33+418G>A single nucleotide variant not provided [RCV001660822] Chr9:74887406 [GRCh38]
Chr9:77502322 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1443+140C>T single nucleotide variant not provided [RCV001570435] Chr9:74812159 [GRCh38]
Chr9:77427075 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2920-179T>C single nucleotide variant not provided [RCV001640967] Chr9:74783032 [GRCh38]
Chr9:77397948 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1443+152T>A single nucleotide variant not provided [RCV001553184] Chr9:74812147 [GRCh38]
Chr9:77427063 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.33+520C>G single nucleotide variant not provided [RCV001649235] Chr9:74887304 [GRCh38]
Chr9:77502220 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2560A>G (p.Met854Val) single nucleotide variant not provided [RCV003327849] Chr9:74788721 [GRCh38]
Chr9:77403637 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3404-108_3404-107dup duplication not provided [RCV001676610] Chr9:74771941..74771942 [GRCh38]
Chr9:77386857..77386858 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.4999-75T>C single nucleotide variant not provided [RCV001556388] Chr9:74750797 [GRCh38]
Chr9:77365713 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3028G>A (p.Ala1010Thr) single nucleotide variant Inborn genetic diseases [RCV003242578] Chr9:74782745 [GRCh38]
Chr9:77397661 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2667+296T>C single nucleotide variant not provided [RCV001720451] Chr9:74788318 [GRCh38]
Chr9:77403234 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1732-315G>A single nucleotide variant not provided [RCV001596833] Chr9:74802490 [GRCh38]
Chr9:77417406 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1732-204C>G single nucleotide variant not provided [RCV001687520] Chr9:74802379 [GRCh38]
Chr9:77417295 [GRCh37]
Chr9:9q21.13		 benign
NC_000009.12:g.74888153C>T single nucleotide variant not provided [RCV001722983] Chr9:74888153 [GRCh38]
Chr9:77503069 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2010-139_2010-138del deletion not provided [RCV001597439] Chr9:74800620..74800621 [GRCh38]
Chr9:77415536..77415537 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5935+340G>C single nucleotide variant not provided [RCV001723023] Chr9:74727899 [GRCh38]
Chr9:77342815 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3536+128C>T single nucleotide variant not provided [RCV001661008] Chr9:74771575 [GRCh38]
Chr9:77386491 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5134+266A>G single nucleotide variant not provided [RCV001637397] Chr9:74743829 [GRCh38]
Chr9:77358745 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3537-32C>T single nucleotide variant not provided [RCV001689227] Chr9:74763166 [GRCh38]
Chr9:77378082 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5776+158A>G single nucleotide variant not provided [RCV001596268] Chr9:74738249 [GRCh38]
Chr9:77353165 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.33+608C>T single nucleotide variant not provided [RCV001649154] Chr9:74887216 [GRCh38]
Chr9:77502132 [GRCh37]
Chr9:9q21.13		 benign
NC_000009.12:g.74888255G>T single nucleotide variant not provided [RCV001710808] Chr9:74888255 [GRCh38]
Chr9:77503171 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.33+780T>C single nucleotide variant not provided [RCV001678023] Chr9:74887044 [GRCh38]
Chr9:77501960 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.842-50C>T single nucleotide variant not provided [RCV001598423] Chr9:74821887 [GRCh38]
Chr9:77436803 [GRCh37]
Chr9:9q21.13		 benign
NC_000009.12:g.74888437_74888438dup duplication not provided [RCV001617909] Chr9:74888435..74888436 [GRCh38]
Chr9:77503351..77503352 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5201-19C>A single nucleotide variant not provided [RCV001596228] Chr9:74740028 [GRCh38]
Chr9:77354944 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1308+221C>A single nucleotide variant not provided [RCV001649658] Chr9:74816448 [GRCh38]
Chr9:77431364 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.544+129TCCT[11] microsatellite not provided [RCV001598875] Chr9:74839855..74839856 [GRCh38]
Chr9:77454771..77454772 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5935+292T>A single nucleotide variant not provided [RCV001598998] Chr9:74727947 [GRCh38]
Chr9:77342863 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2538+62G>T single nucleotide variant not provided [RCV001687569] Chr9:74792562 [GRCh38]
Chr9:77407478 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.153-255T>C single nucleotide variant not provided [RCV001677482] Chr9:74842598 [GRCh38]
Chr9:77457514 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2391+267A>G single nucleotide variant not provided [RCV001713303] Chr9:74796474 [GRCh38]
Chr9:77411390 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3536+319G>C single nucleotide variant not provided [RCV001659211] Chr9:74771384 [GRCh38]
Chr9:77386300 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.*788A>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168495] Chr9:74723825 [GRCh38]
Chr9:77338741 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2724G>A (p.Glu908=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169377] Chr9:74786069 [GRCh38]
Chr9:77400985 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.825G>T (p.Leu275=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169450] Chr9:74827794 [GRCh38]
Chr9:77442710 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.622C>A (p.Pro208Thr) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169453]|not provided [RCV002068041] Chr9:74834045 [GRCh38]
Chr9:77448961 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2919+72A>G single nucleotide variant not provided [RCV001696738] Chr9:74785802 [GRCh38]
Chr9:77400718 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3537-198T>C single nucleotide variant not provided [RCV001684949] Chr9:74763332 [GRCh38]
Chr9:77378248 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2010-152dup duplication not provided [RCV001541600] Chr9:74800619..74800620 [GRCh38]
Chr9:77415535..77415536 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.33+345_33+346dup duplication not provided [RCV001666934] Chr9:74887477..74887478 [GRCh38]
Chr9:77502393..77502394 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2238+170A>G single nucleotide variant not provided [RCV001680778] Chr9:74800084 [GRCh38]
Chr9:77415000 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2392-50T>C single nucleotide variant not provided [RCV001686024] Chr9:74792820 [GRCh38]
Chr9:77407736 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1308+180dup duplication not provided [RCV001680537] Chr9:74816465..74816466 [GRCh38]
Chr9:77431381..77431382 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1497+274A>T single nucleotide variant not provided [RCV001649085] Chr9:74810541 [GRCh38]
Chr9:77425457 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2539-263C>T single nucleotide variant not provided [RCV001649805] Chr9:74789005 [GRCh38]
Chr9:77403921 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5058-186A>G single nucleotide variant not provided [RCV001690276] Chr9:74748100 [GRCh38]
Chr9:77363016 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3536+260CG[6] microsatellite not provided [RCV001644528] Chr9:74771433..74771434 [GRCh38]
Chr9:77386349..77386350 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3403+148G>A single nucleotide variant not provided [RCV001694550] Chr9:74775735 [GRCh38]
Chr9:77390651 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1309-134del deletion not provided [RCV001693582] Chr9:74812567 [GRCh38]
Chr9:77427483 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.33+580C>T single nucleotide variant not provided [RCV001672000] Chr9:74887244 [GRCh38]
Chr9:77502160 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3891G>T (p.Arg1297Ser) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166378] Chr9:74762780 [GRCh38]
Chr9:77377696 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2066G>T (p.Arg689Leu) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166438] Chr9:74800426 [GRCh38]
Chr9:77415342 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*96C>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166835] Chr9:74724517 [GRCh38]
Chr9:77339433 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5936-6T>C single nucleotide variant not provided [RCV001092269] Chr9:74724752 [GRCh38]
Chr9:77339668 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5223C>T (p.Tyr1741=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168554] Chr9:74739987 [GRCh38]
Chr9:77354903 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2920A>G (p.Thr974Ala) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168617]|not provided [RCV002068033] Chr9:74782853 [GRCh38]
Chr9:77397769 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.3331G>A (p.Val1111Met) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168614] Chr9:74775955 [GRCh38]
Chr9:77390871 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*481A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169235] Chr9:74724132 [GRCh38]
Chr9:77339048 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.417G>T (p.Val139=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169455] Chr9:74840151 [GRCh38]
Chr9:77455067 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*1784A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166256] Chr9:74722829 [GRCh38]
Chr9:77337745 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.*1733A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166257] Chr9:74722880 [GRCh38]
Chr9:77337796 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4291C>A (p.Pro1431Thr) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166376] Chr9:74762380 [GRCh38]
Chr9:77377296 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*768A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168496] Chr9:74723845 [GRCh38]
Chr9:77338761 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5226G>A (p.Arg1742=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168553] Chr9:74739984 [GRCh38]
Chr9:77354900 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2920-3C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001168618] Chr9:74782856 [GRCh38]
Chr9:77397772 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4998+9A>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001169308]|not provided [RCV002068037] Chr9:74752268 [GRCh38]
Chr9:77367184 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.2087C>T (p.Thr696Met) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166437] Chr9:74800405 [GRCh38]
Chr9:77415321 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.198T>C (p.Tyr66=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166506]|not provided [RCV002558629] Chr9:74842298 [GRCh38]
Chr9:77457214 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.*48C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166837] Chr9:74724565 [GRCh38]
Chr9:77339481 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.*41C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166838] Chr9:74724572 [GRCh38]
Chr9:77339488 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3486G>A (p.Met1162Ile) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001166899]|not provided [RCV002558640] Chr9:74771753 [GRCh38]
Chr9:77386669 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.841+1G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV001331790] Chr9:74827777 [GRCh38]
Chr9:77442693 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.1101A>C (p.Gln367His) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001336386]|not provided [RCV002547355] Chr9:74820337 [GRCh38]
Chr9:77435253 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4057C>T (p.Arg1353Ter) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001527399] Chr9:74762614 [GRCh38]
Chr9:77377530 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.4673-62G>A single nucleotide variant not provided [RCV001534840] Chr9:74761870 [GRCh38]
Chr9:77376786 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1308+203del deletion not provided [RCV001645356] Chr9:74816466 [GRCh38]
Chr9:77431382 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5083+321T>C single nucleotide variant not provided [RCV001612704] Chr9:74747568 [GRCh38]
Chr9:77362484 [GRCh37]
Chr9:9q21.13		 benign
NC_000009.12:g.74888211A>G single nucleotide variant not provided [RCV001684230] Chr9:74888211 [GRCh38]
Chr9:77503127 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3403+166C>T single nucleotide variant not provided [RCV001684754] Chr9:74775717 [GRCh38]
Chr9:77390633 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2919+134A>C single nucleotide variant not provided [RCV001651671] Chr9:74785740 [GRCh38]
Chr9:77400656 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1134+139G>T single nucleotide variant not provided [RCV001671798] Chr9:74820165 [GRCh38]
Chr9:77435081 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2667+327C>T single nucleotide variant not provided [RCV001698531] Chr9:74788287 [GRCh38]
Chr9:77403203 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5570+53C>T single nucleotide variant not provided [RCV001589367] Chr9:74739314 [GRCh38]
Chr9:77354230 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3404-231C>T single nucleotide variant not provided [RCV001714210] Chr9:74772066 [GRCh38]
Chr9:77386982 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5776+23A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001838807]|not provided [RCV001696446] Chr9:74738384 [GRCh38]
Chr9:77353300 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.4355A>G (p.Tyr1452Cys) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001420552] Chr9:74762316 [GRCh38]
Chr9:77377232 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3694del (p.Gln1232fs) deletion Intestinal hypomagnesemia 1 [RCV001535997] Chr9:74762977 [GRCh38]
Chr9:77377893 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.1308+180_1308+181dup duplication not provided [RCV001536713] Chr9:74816465..74816466 [GRCh38]
Chr9:77431381..77431382 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3094+2T>C single nucleotide variant Intestinal hypomagnesemia 1 [RCV001527400] Chr9:74782677 [GRCh38]
Chr9:77397593 [GRCh37]
Chr9:9q21.13		 pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_017662.5(TRPM6):c.4710G>A (p.Trp1570Ter) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001726498] Chr9:74761771 [GRCh38]
Chr9:77376687 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3330C>A (p.His1110Gln) single nucleotide variant not provided [RCV001755023] Chr9:74775956 [GRCh38]
Chr9:77390872 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5786A>G (p.Glu1929Gly) single nucleotide variant Inborn genetic diseases [RCV002901039] Chr9:74732727 [GRCh38]
Chr9:77347643 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1308+7T>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV001726497] Chr9:74816662 [GRCh38]
Chr9:77431578 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.1309-31T>C single nucleotide variant not provided [RCV001732297] Chr9:74812464 [GRCh38]
Chr9:77427380 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1756T>G (p.Ser586Ala) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002503228]|not provided [RCV001771537] Chr9:74802151 [GRCh38]
Chr9:77417067 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2919+59T>C single nucleotide variant not provided [RCV001786794] Chr9:74785815 [GRCh38]
Chr9:77400731 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5314C>T (p.Arg1772Ter) single nucleotide variant Intestinal hypomagnesemia 1 [RCV001783915]|not provided [RCV003738097] Chr9:74739896 [GRCh38]
Chr9:77354812 [GRCh37]
Chr9:9q21.13		 pathogenic|likely pathogenic
NM_017662.5(TRPM6):c.1497+243T>C single nucleotide variant not provided [RCV001800046] Chr9:74810572 [GRCh38]
Chr9:77425488 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2842T>C (p.Phe948Leu) single nucleotide variant not provided [RCV001758507] Chr9:74785951 [GRCh38]
Chr9:77400867 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4708T>C (p.Trp1570Arg) single nucleotide variant not provided [RCV002020787] Chr9:74761773 [GRCh38]
Chr9:77376689 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4519G>A (p.Ala1507Thr) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002478256]|not provided [RCV001908217] Chr9:74762152 [GRCh38]
Chr9:77377068 [GRCh37]
Chr9:9q21.13		 uncertain significance
NC_000009.11:g.(?_77112893)_(77502772_?)del deletion not provided [RCV001949684] Chr9:77112893..77502772 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.4783C>T (p.Pro1595Ser) single nucleotide variant not provided [RCV002025147] Chr9:74761698 [GRCh38]
Chr9:77376614 [GRCh37]
Chr9:9q21.13		 uncertain significance
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NM_017662.5(TRPM6):c.153-38A>G single nucleotide variant not provided [RCV001847426] Chr9:74842381 [GRCh38]
Chr9:77457297 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2782C>T (p.Arg928Ter) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002052227] Chr9:74786011 [GRCh38]
Chr9:77400927 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.5434C>T (p.Arg1812Trp) single nucleotide variant not provided [RCV001946505] Chr9:74739776 [GRCh38]
Chr9:77354692 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5971A>C (p.Asn1991His) single nucleotide variant not provided [RCV002004012] Chr9:74724711 [GRCh38]
Chr9:77339627 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1308G>A (p.Lys436=) single nucleotide variant not provided [RCV001905558] Chr9:74816669 [GRCh38]
Chr9:77431585 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5567del (p.Pro1856fs) deletion not provided [RCV001952697] Chr9:74739370 [GRCh38]
Chr9:77354286 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.4258G>A (p.Ala1420Thr) single nucleotide variant not provided [RCV001993925] Chr9:74762413 [GRCh38]
Chr9:77377329 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5933C>T (p.Pro1978Leu) single nucleotide variant not provided [RCV002031803] Chr9:74728241 [GRCh38]
Chr9:77343157 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4698G>T (p.Gly1566=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002479794]|not provided [RCV002026611] Chr9:74761783 [GRCh38]
Chr9:77376699 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.4860G>T (p.Glu1620Asp) single nucleotide variant not provided [RCV001934781] Chr9:74755399 [GRCh38]
Chr9:77370315 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2077A>T (p.Thr693Ser) single nucleotide variant not provided [RCV001932315] Chr9:74800415 [GRCh38]
Chr9:77415331 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.218C>T (p.Ala73Val) single nucleotide variant Inborn genetic diseases [RCV002555293]|Intestinal hypomagnesemia 1 [RCV002478322]|not provided [RCV001906371] Chr9:74842278 [GRCh38]
Chr9:77457194 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3722G>T (p.Arg1241Ile) single nucleotide variant not provided [RCV001961034] Chr9:74762949 [GRCh38]
Chr9:77377865 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4906+3A>C single nucleotide variant not provided [RCV001904039] Chr9:74755350 [GRCh38]
Chr9:77370266 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3501T>C (p.Cys1167=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002492155]|not provided [RCV001961232] Chr9:74771738 [GRCh38]
Chr9:77386654 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2608G>A (p.Val870Met) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002503579]|not provided [RCV001925651] Chr9:74788673 [GRCh38]
Chr9:77403589 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4316C>G (p.Pro1439Arg) single nucleotide variant Inborn genetic diseases [RCV002642054]|not provided [RCV002019587] Chr9:74762355 [GRCh38]
Chr9:77377271 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4480G>T (p.Ala1494Ser) single nucleotide variant not provided [RCV001904961] Chr9:74762191 [GRCh38]
Chr9:77377107 [GRCh37]
Chr9:9q21.13		 uncertain significance
NC_000009.11:g.(?_77112893)_(77502772_?)dup duplication not provided [RCV001989895] Chr9:77112893..77502772 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1576C>A (p.Arg526Ser) single nucleotide variant not provided [RCV002028193] Chr9:74808096 [GRCh38]
Chr9:77423012 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.209T>C (p.Ile70Thr) single nucleotide variant not provided [RCV002010874] Chr9:74842287 [GRCh38]
Chr9:77457203 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2853A>G (p.Ser951=) single nucleotide variant not provided [RCV002168973] Chr9:74785940 [GRCh38]
Chr9:77400856 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5391G>A (p.Pro1797=) single nucleotide variant not provided [RCV002105277] Chr9:74739819 [GRCh38]
Chr9:77354735 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5415C>A (p.Ser1805=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002500121]|not provided [RCV002079571] Chr9:74739795 [GRCh38]
Chr9:77354711 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3094+19C>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV002500311]|not provided [RCV002151195] Chr9:74782660 [GRCh38]
Chr9:77397576 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5685C>A (p.Thr1895=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002499995]|not provided [RCV002117304] Chr9:74738498 [GRCh38]
Chr9:77353414 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5571-14T>C single nucleotide variant not provided [RCV002126613] Chr9:74738626 [GRCh38]
Chr9:77353542 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3000G>A (p.Ser1000=) single nucleotide variant not provided [RCV002077753] Chr9:74782773 [GRCh38]
Chr9:77397689 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2118C>T (p.Thr706=) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002499980]|not provided [RCV002115260] Chr9:74800374 [GRCh38]
Chr9:77415290 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3495G>A (p.Val1165=) single nucleotide variant not provided [RCV002088436] Chr9:74771744 [GRCh38]
Chr9:77386660 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3393C>T (p.Asp1131=) single nucleotide variant not provided [RCV002073906] Chr9:74775893 [GRCh38]
Chr9:77390809 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2009+8T>A single nucleotide variant not provided [RCV002134095] Chr9:74801890 [GRCh38]
Chr9:77416806 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1959G>T (p.Lys653Asn) single nucleotide variant not provided [RCV002193600] Chr9:74801948 [GRCh38]
Chr9:77416864 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.152+20G>A single nucleotide variant not provided [RCV002099602] Chr9:74855507 [GRCh38]
Chr9:77470423 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2238+11T>G single nucleotide variant not provided [RCV002162144] Chr9:74800243 [GRCh38]
Chr9:77415159 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1207+18G>A single nucleotide variant Intestinal hypomagnesemia 1 [RCV002500241]|not provided [RCV002142910] Chr9:74816874 [GRCh38]
Chr9:77431790 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5820A>G (p.Glu1940=) single nucleotide variant not provided [RCV002160301] Chr9:74732693 [GRCh38]
Chr9:77347609 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2760G>A (p.Leu920=) single nucleotide variant not provided [RCV002219451] Chr9:74786033 [GRCh38]
Chr9:77400949 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1308+13T>C single nucleotide variant not provided [RCV002142733] Chr9:74816656 [GRCh38]
Chr9:77431572 [GRCh37]
Chr9:9q21.13		 likely benign
NC_000009.11:g.(?_77397258)_(77403678_?)del deletion not provided [RCV003119781] Chr9:77397258..77403678 [GRCh37]
Chr9:9q21.13		 pathogenic
NC_000009.11:g.(?_77358991)_(77362850_?)del deletion not provided [RCV003119782] Chr9:77358991..77362850 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.2361C>T (p.Asn787=) single nucleotide variant not provided [RCV003118793] Chr9:74796771 [GRCh38]
Chr9:77411687 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2810C>T (p.Ala937Val) single nucleotide variant not provided [RCV003121169] Chr9:74785983 [GRCh38]
Chr9:77400899 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2009+5G>A single nucleotide variant not provided [RCV003235934] Chr9:74801893 [GRCh38]
Chr9:77416809 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1309-13G>C single nucleotide variant not provided [RCV002278974] Chr9:74812446 [GRCh38]
Chr9:77427362 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.756T>A (p.Asp252Glu) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002285109] Chr9:74827863 [GRCh38]
Chr9:77442779 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_017662.5(TRPM6):c.2538+130G>A single nucleotide variant not provided [RCV002286184] Chr9:74792494 [GRCh38]
Chr9:77407410 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.544+129TCCT[13] microsatellite not provided [RCV002286267] Chr9:74839855..74839856 [GRCh38]
Chr9:77454771..77454772 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1134+87del deletion not provided [RCV002260738] Chr9:74820217 [GRCh38]
Chr9:77435133 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3158A>G (p.Tyr1053Cys) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002289441] Chr9:74782413 [GRCh38]
Chr9:77397329 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.1308+1G>T single nucleotide variant Intestinal hypomagnesemia 1 [RCV002283639] Chr9:74816668 [GRCh38]
Chr9:77431584 [GRCh37]
Chr9:9q21.13		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_017662.5(TRPM6):c.1437C>A (p.Tyr479Ter) single nucleotide variant Intestinal hypomagnesemia 1 [RCV002285108] Chr9:74812305 [GRCh38]
Chr9:77427221 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.1731+39T>A single nucleotide variant not provided [RCV002285692] Chr9:74803755 [GRCh38]
Chr9:77418671 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3214G>A (p.Val1072Ile) single nucleotide variant Inborn genetic diseases [RCV003282455] Chr9:74776072 [GRCh38]
Chr9:77390988 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5338C>T (p.Arg1780Cys) single nucleotide variant Inborn genetic diseases [RCV003260484] Chr9:74739872 [GRCh38]
Chr9:77354788 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4027C>T (p.Gln1343Ter) single nucleotide variant not provided [RCV003154404] Chr9:74762644 [GRCh38]
Chr9:77377560 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_017662.5(TRPM6):c.1354C>T (p.Arg452Trp) single nucleotide variant not provided [RCV002614569] Chr9:74812388 [GRCh38]
Chr9:77427304 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5816C>T (p.Pro1939Leu) single nucleotide variant Inborn genetic diseases [RCV002906146] Chr9:74732697 [GRCh38]
Chr9:77347613 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2652T>C (p.Ile884=) single nucleotide variant not provided [RCV002726810] Chr9:74788629 [GRCh38]
Chr9:77403545 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2854C>T (p.Arg952Trp) single nucleotide variant not provided [RCV002995302] Chr9:74785939 [GRCh38]
Chr9:77400855 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.91C>T (p.Pro31Ser) single nucleotide variant not provided [RCV002775727] Chr9:74858691 [GRCh38]
Chr9:77473607 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1403G>A (p.Arg468His) single nucleotide variant not provided [RCV002996315] Chr9:74812339 [GRCh38]
Chr9:77427255 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.291G>A (p.Thr97=) single nucleotide variant TRPM6-related condition [RCV003936314]|not provided [RCV002756598] Chr9:74842205 [GRCh38]
Chr9:77457121 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.917C>A (p.Thr306Asn) single nucleotide variant Inborn genetic diseases [RCV002997479] Chr9:74821762 [GRCh38]
Chr9:77436678 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1435T>C (p.Tyr479His) single nucleotide variant not provided [RCV002843850] Chr9:74812307 [GRCh38]
Chr9:77427223 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5636T>C (p.Met1879Thr) single nucleotide variant Inborn genetic diseases [RCV002794267] Chr9:74738547 [GRCh38]
Chr9:77353463 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1437C>T (p.Tyr479=) single nucleotide variant not provided [RCV002755527] Chr9:74812305 [GRCh38]
Chr9:77427221 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4758GAA[1] (p.Lys1587del) microsatellite not provided [RCV002771057] Chr9:74761718..74761720 [GRCh38]
Chr9:77376634..77376636 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.842-9C>T single nucleotide variant not provided [RCV002972482] Chr9:74821846 [GRCh38]
Chr9:77436762 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4725G>T (p.Met1575Ile) single nucleotide variant Inborn genetic diseases [RCV002687997] Chr9:74761756 [GRCh38]
Chr9:77376672 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1722C>A (p.Tyr574Ter) single nucleotide variant not provided [RCV002994404] Chr9:74803803 [GRCh38]
Chr9:77418719 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.1969A>G (p.Met657Val) single nucleotide variant not provided [RCV003032830] Chr9:74801938 [GRCh38]
Chr9:77416854 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3403+9T>C single nucleotide variant not provided [RCV002842146] Chr9:74775874 [GRCh38]
Chr9:77390790 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1498-13G>C single nucleotide variant not provided [RCV002996794] Chr9:74808187 [GRCh38]
Chr9:77423103 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3815A>C (p.Lys1272Thr) single nucleotide variant not provided [RCV002756421] Chr9:74762856 [GRCh38]
Chr9:77377772 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5356G>A (p.Val1786Ile) single nucleotide variant Inborn genetic diseases [RCV003075957]|not provided [RCV003075956] Chr9:74739854 [GRCh38]
Chr9:77354770 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.1497+19C>T single nucleotide variant not provided [RCV002617989] Chr9:74810796 [GRCh38]
Chr9:77425712 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5201-18C>T single nucleotide variant not provided [RCV002771523] Chr9:74740027 [GRCh38]
Chr9:77354943 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.5315G>A (p.Arg1772Gln) single nucleotide variant Inborn genetic diseases [RCV002728174] Chr9:74739895 [GRCh38]
Chr9:77354811 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.6055G>A (p.Asp2019Asn) single nucleotide variant not provided [RCV002871247] Chr9:74724627 [GRCh38]
Chr9:77339543 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.6061C>T (p.Gln2021Ter) single nucleotide variant not provided [RCV002658813] Chr9:74724621 [GRCh38]
Chr9:77339537 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.620T>C (p.Ile207Thr) single nucleotide variant not provided [RCV002736532] Chr9:74834047 [GRCh38]
Chr9:77448963 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.868G>C (p.Gly290Arg) single nucleotide variant Inborn genetic diseases [RCV002981463] Chr9:74821811 [GRCh38]
Chr9:77436727 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4694T>C (p.Ile1565Thr) single nucleotide variant Inborn genetic diseases [RCV002868714] Chr9:74761787 [GRCh38]
Chr9:77376703 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2009+15T>C single nucleotide variant not provided [RCV002572171] Chr9:74801883 [GRCh38]
Chr9:77416799 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4968A>C (p.Gln1656His) single nucleotide variant not provided [RCV002796982] Chr9:74752307 [GRCh38]
Chr9:77367223 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5990A>C (p.Glu1997Ala) single nucleotide variant not provided [RCV002706162] Chr9:74724692 [GRCh38]
Chr9:77339608 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1734A>G (p.Glu578=) single nucleotide variant not provided [RCV002870750] Chr9:74802173 [GRCh38]
Chr9:77417089 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2180T>A (p.Met727Lys) single nucleotide variant Inborn genetic diseases [RCV002950610] Chr9:74800312 [GRCh38]
Chr9:77415228 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4945G>A (p.Glu1649Lys) single nucleotide variant not provided [RCV003038339] Chr9:74752330 [GRCh38]
Chr9:77367246 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3523G>C (p.Val1175Leu) single nucleotide variant Inborn genetic diseases [RCV002888927] Chr9:74771716 [GRCh38]
Chr9:77386632 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.332A>G (p.Tyr111Cys) single nucleotide variant Inborn genetic diseases [RCV002758935] Chr9:74840236 [GRCh38]
Chr9:77455152 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1597C>T (p.His533Tyr) single nucleotide variant Inborn genetic diseases [RCV002659916] Chr9:74808075 [GRCh38]
Chr9:77422991 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.733C>T (p.His245Tyr) single nucleotide variant not provided [RCV002979607] Chr9:74827886 [GRCh38]
Chr9:77442802 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.901C>T (p.Leu301=) single nucleotide variant not provided [RCV002736016] Chr9:74821778 [GRCh38]
Chr9:77436694 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1312G>T (p.Asp438Tyr) single nucleotide variant not provided [RCV002848173] Chr9:74812430 [GRCh38]
Chr9:77427346 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.406C>A (p.Pro136Thr) single nucleotide variant Inborn genetic diseases [RCV002758280] Chr9:74840162 [GRCh38]
Chr9:77455078 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5282G>A (p.Arg1761His) single nucleotide variant Inborn genetic diseases [RCV003077564]|not provided [RCV003085618] Chr9:74739928 [GRCh38]
Chr9:77354844 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.5488-7T>G single nucleotide variant not provided [RCV003100614] Chr9:74739456 [GRCh38]
Chr9:77354372 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4665G>A (p.Lys1555=) single nucleotide variant not provided [RCV002638963] Chr9:74762006 [GRCh38]
Chr9:77376922 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2906T>C (p.Met969Thr) single nucleotide variant not provided [RCV002824363] Chr9:74785887 [GRCh38]
Chr9:77400803 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1624T>A (p.Tyr542Asn) single nucleotide variant not provided [RCV003039060] Chr9:74808048 [GRCh38]
Chr9:77422964 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4239A>C (p.Leu1413Phe) single nucleotide variant not provided [RCV002640060] Chr9:74762432 [GRCh38]
Chr9:77377348 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3094+20G>T single nucleotide variant not provided [RCV002736108] Chr9:74782659 [GRCh38]
Chr9:77397575 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2352T>C (p.Ser784=) single nucleotide variant not provided [RCV002627263] Chr9:74796780 [GRCh38]
Chr9:77411696 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1151C>T (p.Ala384Val) single nucleotide variant not provided [RCV002596826] Chr9:74816948 [GRCh38]
Chr9:77431864 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.669+15C>T single nucleotide variant not provided [RCV002790507] Chr9:74833983 [GRCh38]
Chr9:77448899 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.1402C>T (p.Arg468Cys) single nucleotide variant not provided [RCV002594313] Chr9:74812340 [GRCh38]
Chr9:77427256 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.886G>A (p.Gly296Ser) single nucleotide variant not provided [RCV002643764] Chr9:74821793 [GRCh38]
Chr9:77436709 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.723C>G (p.Leu241=) single nucleotide variant not provided [RCV003024675] Chr9:74827896 [GRCh38]
Chr9:77442812 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3839C>T (p.Ser1280Phe) single nucleotide variant Inborn genetic diseases [RCV002854148] Chr9:74762832 [GRCh38]
Chr9:77377748 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5045A>G (p.Asn1682Ser) single nucleotide variant not provided [RCV003057392] Chr9:74750676 [GRCh38]
Chr9:77365592 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4252G>C (p.Asp1418His) single nucleotide variant not provided [RCV002663298] Chr9:74762419 [GRCh38]
Chr9:77377335 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1631A>G (p.Lys544Arg) single nucleotide variant not provided [RCV002594808] Chr9:74808041 [GRCh38]
Chr9:77422957 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5980T>G (p.Phe1994Val) single nucleotide variant not provided [RCV003057569] Chr9:74724702 [GRCh38]
Chr9:77339618 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4994A>G (p.Gln1665Arg) single nucleotide variant Inborn genetic diseases [RCV002763586] Chr9:74752281 [GRCh38]
Chr9:77367197 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3980T>C (p.Val1327Ala) single nucleotide variant Inborn genetic diseases [RCV002696821] Chr9:74762691 [GRCh38]
Chr9:77377607 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.580C>T (p.His194Tyr) single nucleotide variant not provided [RCV003057483] Chr9:74834087 [GRCh38]
Chr9:77449003 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.869G>A (p.Gly290Glu) single nucleotide variant Inborn genetic diseases [RCV002641526] Chr9:74821810 [GRCh38]
Chr9:77436726 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2133C>T (p.Ala711=) single nucleotide variant not provided [RCV002953937] Chr9:74800359 [GRCh38]
Chr9:77415275 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5777-15G>A single nucleotide variant not provided [RCV002576167] Chr9:74732751 [GRCh38]
Chr9:77347667 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2040G>A (p.Leu680=) single nucleotide variant not provided [RCV002957655] Chr9:74800452 [GRCh38]
Chr9:77415368 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4657A>T (p.Ile1553Phe) single nucleotide variant not provided [RCV002741892] Chr9:74762014 [GRCh38]
Chr9:77376930 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3032G>A (p.Arg1011Gln) single nucleotide variant not provided [RCV002745546] Chr9:74782741 [GRCh38]
Chr9:77397657 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.865G>A (p.Val289Met) single nucleotide variant Inborn genetic diseases [RCV002744517] Chr9:74821814 [GRCh38]
Chr9:77436730 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5232G>A (p.Glu1744=) single nucleotide variant not provided [RCV002829349] Chr9:74739978 [GRCh38]
Chr9:77354894 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3688A>G (p.Thr1230Ala) single nucleotide variant not provided [RCV003059155] Chr9:74762983 [GRCh38]
Chr9:77377899 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.607T>C (p.Trp203Arg) single nucleotide variant Inborn genetic diseases [RCV002697512] Chr9:74834060 [GRCh38]
Chr9:77448976 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3107A>G (p.Gln1036Arg) single nucleotide variant not provided [RCV002710329] Chr9:74782464 [GRCh38]
Chr9:77397380 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.33+15C>T single nucleotide variant not provided [RCV002851391] Chr9:74887809 [GRCh38]
Chr9:77502725 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4021T>A (p.Tyr1341Asn) single nucleotide variant not provided [RCV002958563] Chr9:74762650 [GRCh38]
Chr9:77377566 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3414C>A (p.Leu1138=) single nucleotide variant not provided [RCV002595609] Chr9:74771825 [GRCh38]
Chr9:77386741 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2809G>A (p.Ala937Thr) single nucleotide variant Inborn genetic diseases [RCV002767809] Chr9:74785984 [GRCh38]
Chr9:77400900 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.113+20T>C single nucleotide variant not provided [RCV002575521] Chr9:74858649 [GRCh38]
Chr9:77473565 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4956A>G (p.Gln1652=) single nucleotide variant not provided [RCV002602593] Chr9:74752319 [GRCh38]
Chr9:77367235 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5934G>A (p.Pro1978=) single nucleotide variant not provided [RCV002577004] Chr9:74728240 [GRCh38]
Chr9:77343156 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4785+16T>C single nucleotide variant not provided [RCV003027309] Chr9:74761680 [GRCh38]
Chr9:77376596 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.674T>C (p.Val225Ala) single nucleotide variant Inborn genetic diseases [RCV002673319] Chr9:74827945 [GRCh38]
Chr9:77442861 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.113+13A>G single nucleotide variant not provided [RCV003010247] Chr9:74858656 [GRCh38]
Chr9:77473572 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2929A>G (p.Met977Val) single nucleotide variant not provided [RCV002857829] Chr9:74782844 [GRCh38]
Chr9:77397760 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5333G>T (p.Gly1778Val) single nucleotide variant Inborn genetic diseases [RCV002878298] Chr9:74739877 [GRCh38]
Chr9:77354793 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5855C>G (p.Ala1952Gly) single nucleotide variant not provided [RCV002833816] Chr9:74728319 [GRCh38]
Chr9:77343235 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4813A>G (p.Ser1605Gly) single nucleotide variant Inborn genetic diseases [RCV002878825] Chr9:74755446 [GRCh38]
Chr9:77370362 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5746C>T (p.Arg1916Trp) single nucleotide variant Inborn genetic diseases [RCV002702696] Chr9:74738437 [GRCh38]
Chr9:77353353 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.6064C>G (p.Leu2022Val) single nucleotide variant Inborn genetic diseases [RCV002746965] Chr9:74724618 [GRCh38]
Chr9:77339534 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4231G>T (p.Ala1411Ser) single nucleotide variant not provided [RCV002746787] Chr9:74762440 [GRCh38]
Chr9:77377356 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1243G>T (p.Ala415Ser) single nucleotide variant not provided [RCV002900237] Chr9:74816734 [GRCh38]
Chr9:77431650 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.895G>A (p.Val299Ile) single nucleotide variant not provided [RCV002580559] Chr9:74821784 [GRCh38]
Chr9:77436700 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5967G>A (p.Arg1989=) single nucleotide variant not provided [RCV003060574] Chr9:74724715 [GRCh38]
Chr9:77339631 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1134+11C>T single nucleotide variant not provided [RCV002598182] Chr9:74820293 [GRCh38]
Chr9:77435209 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.143A>C (p.Asn48Thr) single nucleotide variant not provided [RCV002601603] Chr9:74855536 [GRCh38]
Chr9:77470452 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5852C>A (p.Pro1951Gln) single nucleotide variant not provided [RCV002833824] Chr9:74728322 [GRCh38]
Chr9:77343238 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1021delinsAA (p.Pro341fs) indel not provided [RCV003030673] Chr9:74820417 [GRCh38]
Chr9:77435333 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.5485A>G (p.Arg1829Gly) single nucleotide variant Inborn genetic diseases [RCV002672957] Chr9:74739725 [GRCh38]
Chr9:77354641 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2010-16G>A single nucleotide variant not provided [RCV002716675] Chr9:74800498 [GRCh38]
Chr9:77415414 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1643A>G (p.Gln548Arg) single nucleotide variant Inborn genetic diseases [RCV002702661] Chr9:74803882 [GRCh38]
Chr9:77418798 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2119T>C (p.Cys707Arg) single nucleotide variant not provided [RCV002966193] Chr9:74800373 [GRCh38]
Chr9:77415289 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4837G>A (p.Gly1613Arg) single nucleotide variant Inborn genetic diseases [RCV002718953] Chr9:74755422 [GRCh38]
Chr9:77370338 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.842-13T>C single nucleotide variant not provided [RCV003028445] Chr9:74821850 [GRCh38]
Chr9:77436766 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4906+7A>T single nucleotide variant not provided [RCV002580469] Chr9:74755346 [GRCh38]
Chr9:77370262 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4609G>C (p.Ala1537Pro) single nucleotide variant not provided [RCV002716455] Chr9:74762062 [GRCh38]
Chr9:77376978 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.33+585C>T single nucleotide variant Inborn genetic diseases [RCV002747058] Chr9:74887239 [GRCh38]
Chr9:77502155 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4534T>C (p.Cys1512Arg) single nucleotide variant not provided [RCV002651733] Chr9:74762137 [GRCh38]
Chr9:77377053 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.143del (p.Asn48fs) deletion Inborn genetic diseases [RCV002792499] Chr9:74855536 [GRCh38]
Chr9:77470452 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.4907-5A>G single nucleotide variant not provided [RCV002857393] Chr9:74752373 [GRCh38]
Chr9:77367289 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3802G>A (p.Ala1268Thr) single nucleotide variant not provided [RCV003086421] Chr9:74762869 [GRCh38]
Chr9:77377785 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4224G>A (p.Glu1408=) single nucleotide variant not provided [RCV003048899] Chr9:74762447 [GRCh38]
Chr9:77377363 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5390C>T (p.Pro1797Leu) single nucleotide variant Inborn genetic diseases [RCV002896846] Chr9:74739820 [GRCh38]
Chr9:77354736 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3223G>C (p.Asp1075His) single nucleotide variant not provided [RCV002943108] Chr9:74776063 [GRCh38]
Chr9:77390979 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.2134G>A (p.Val712Met) single nucleotide variant Inborn genetic diseases [RCV002584766]|not provided [RCV002584765] Chr9:74800358 [GRCh38]
Chr9:77415274 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3256T>C (p.Tyr1086His) single nucleotide variant not provided [RCV002583426] Chr9:74776030 [GRCh38]
Chr9:77390946 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.153-5T>G single nucleotide variant not provided [RCV002587609] Chr9:74842348 [GRCh38]
Chr9:77457264 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.2577C>T (p.Thr859=) single nucleotide variant not provided [RCV002585048] Chr9:74788704 [GRCh38]
Chr9:77403620 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1292A>G (p.Tyr431Cys) single nucleotide variant not provided [RCV002606754] Chr9:74816685 [GRCh38]
Chr9:77431601 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5194C>T (p.Leu1732=) single nucleotide variant not provided [RCV002654276] Chr9:74742567 [GRCh38]
Chr9:77357483 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5571-19G>A single nucleotide variant not provided [RCV002653324] Chr9:74738631 [GRCh38]
Chr9:77353547 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1141A>G (p.Ile381Val) single nucleotide variant not provided [RCV002608973] Chr9:74816958 [GRCh38]
Chr9:77431874 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.290C>T (p.Thr97Met) single nucleotide variant not provided [RCV002942520] Chr9:74842206 [GRCh38]
Chr9:77457122 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5134+18A>G single nucleotide variant not provided [RCV002613212] Chr9:74744077 [GRCh38]
Chr9:77358993 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5999T>G (p.Ile2000Arg) single nucleotide variant not provided [RCV002814975] Chr9:74724683 [GRCh38]
Chr9:77339599 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5304G>A (p.Gln1768=) single nucleotide variant not provided [RCV002612758] Chr9:74739906 [GRCh38]
Chr9:77354822 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4718C>A (p.Ala1573Glu) single nucleotide variant Inborn genetic diseases [RCV003183068] Chr9:74761763 [GRCh38]
Chr9:77376679 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5860T>A (p.Leu1954Met) single nucleotide variant Inborn genetic diseases [RCV003204467] Chr9:74728314 [GRCh38]
Chr9:77343230 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1865A>C (p.Lys622Thr) single nucleotide variant not provided [RCV003228278] Chr9:74802042 [GRCh38]
Chr9:77416958 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1744G>T (p.Val582Phe) single nucleotide variant Inborn genetic diseases [RCV003174214] Chr9:74802163 [GRCh38]
Chr9:77417079 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3537-348A>G single nucleotide variant Intestinal hypomagnesemia 1 [RCV003159270] Chr9:74763482 [GRCh38]
Chr9:77378398 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.467A>G (p.Lys156Arg) single nucleotide variant Inborn genetic diseases [RCV003213658] Chr9:74840101 [GRCh38]
Chr9:77455017 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5969T>A (p.Ile1990Lys) single nucleotide variant Inborn genetic diseases [RCV003283006] Chr9:74724713 [GRCh38]
Chr9:77339629 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.310G>A (p.Glu104Lys) single nucleotide variant Inborn genetic diseases [RCV003214633] Chr9:74842186 [GRCh38]
Chr9:77457102 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5735A>G (p.Tyr1912Cys) single nucleotide variant Intestinal hypomagnesemia 1 [RCV003225848] Chr9:74738448 [GRCh38]
Chr9:77353364 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4789A>G (p.Ile1597Val) single nucleotide variant Inborn genetic diseases [RCV003198039] Chr9:74755470 [GRCh38]
Chr9:77370386 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5218G>C (p.Val1740Leu) single nucleotide variant Intestinal hypomagnesemia 1 [RCV003142843] Chr9:74739992 [GRCh38]
Chr9:77354908 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1985C>T (p.Ser662Leu) single nucleotide variant Inborn genetic diseases [RCV003186534] Chr9:74801922 [GRCh38]
Chr9:77416838 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4821G>C (p.Gln1607His) single nucleotide variant Inborn genetic diseases [RCV003218834] Chr9:74755438 [GRCh38]
Chr9:77370354 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.683A>C (p.Tyr228Ser) single nucleotide variant not provided [RCV003228474] Chr9:74827936 [GRCh38]
Chr9:77442852 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5624T>C (p.Ile1875Thr) single nucleotide variant Inborn genetic diseases [RCV003309473] Chr9:74738559 [GRCh38]
Chr9:77353475 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.6032C>T (p.Thr2011Met) single nucleotide variant Inborn genetic diseases [RCV003305832]|not provided [RCV003575066] Chr9:74724650 [GRCh38]
Chr9:77339566 [GRCh37]
Chr9:9q21.13		 likely benign|uncertain significance
NM_017662.5(TRPM6):c.2189_2197del (p.Thr730_Trp733delinsArg) deletion Intestinal hypomagnesemia 1 [RCV003337947] Chr9:74800295..74800303 [GRCh38]
Chr9:77415211..77415219 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1316C>T (p.Ala439Val) single nucleotide variant Inborn genetic diseases [RCV003354204] Chr9:74812426 [GRCh38]
Chr9:77427342 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5852C>T (p.Pro1951Leu) single nucleotide variant Inborn genetic diseases [RCV003384966] Chr9:74728322 [GRCh38]
Chr9:77343238 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3139C>A (p.Pro1047Thr) single nucleotide variant Inborn genetic diseases [RCV003377255] Chr9:74782432 [GRCh38]
Chr9:77397348 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.4472A>G (p.Gln1491Arg) single nucleotide variant Inborn genetic diseases [RCV003366631] Chr9:74762199 [GRCh38]
Chr9:77377115 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5851C>T (p.Pro1951Ser) single nucleotide variant Inborn genetic diseases [RCV003364133] Chr9:74728323 [GRCh38]
Chr9:77343239 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.710A>G (p.Lys237Arg) single nucleotide variant Inborn genetic diseases [RCV003368470] Chr9:74827909 [GRCh38]
Chr9:77442825 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.3895dup (p.Ala1299fs) duplication Intestinal hypomagnesemia 1 [RCV003448931] Chr9:74762775..74762776 [GRCh38]
Chr9:77377691..77377692 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_017662.5(TRPM6):c.2323C>T (p.Gln775Ter) single nucleotide variant not provided [RCV003480476] Chr9:74796809 [GRCh38]
Chr9:77411725 [GRCh37]
Chr9:9q21.13		 likely pathogenic
GRCh37/hg19 9q21.13(chr9:77237003-77546297)x1 copy number loss not provided [RCV003483070] Chr9:77237003..77546297 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_017662.5(TRPM6):c.5615G>T (p.Trp1872Leu) single nucleotide variant not provided [RCV003481918] Chr9:74738568 [GRCh38]
Chr9:77353484 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.670-9G>A single nucleotide variant not provided [RCV003579392] Chr9:74827958 [GRCh38]
Chr9:77442874 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4456C>A (p.Arg1486=) single nucleotide variant not provided [RCV003739939] Chr9:74762215 [GRCh38]
Chr9:77377131 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3213C>T (p.Asn1071=) single nucleotide variant not provided [RCV003740370] Chr9:74776073 [GRCh38]
Chr9:77390989 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4851C>A (p.Ile1617=) single nucleotide variant not provided [RCV003831903] Chr9:74755408 [GRCh38]
Chr9:77370324 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5971A>G (p.Asn1991Asp) single nucleotide variant not provided [RCV003713739] Chr9:74724711 [GRCh38]
Chr9:77339627 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5925C>T (p.Leu1975=) single nucleotide variant not provided [RCV003577734] Chr9:74728249 [GRCh38]
Chr9:77343165 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.966G>A (p.Ala322=) single nucleotide variant not provided [RCV003738847] Chr9:74821713 [GRCh38]
Chr9:77436629 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.330+1G>A single nucleotide variant not provided [RCV003578842] Chr9:74842165 [GRCh38]
Chr9:77457081 [GRCh37]
Chr9:9q21.13		 likely pathogenic
NM_017662.5(TRPM6):c.2668-19T>C single nucleotide variant not provided [RCV003830768] Chr9:74786144 [GRCh38]
Chr9:77401060 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3404-8_3404-7dup duplication not provided [RCV003662062] Chr9:74771841..74771842 [GRCh38]
Chr9:77386757..77386758 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5058-8T>C single nucleotide variant not provided [RCV003661239] Chr9:74747922 [GRCh38]
Chr9:77362838 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3856C>T (p.Leu1286=) single nucleotide variant not provided [RCV003665460] Chr9:74762815 [GRCh38]
Chr9:77377731 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2239-10dup duplication not provided [RCV003717248] Chr9:74796902..74796903 [GRCh38]
Chr9:77411818..77411819 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.2088G>A (p.Thr696=) single nucleotide variant not provided [RCV003832385] Chr9:74800404 [GRCh38]
Chr9:77415320 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5057+16T>C single nucleotide variant not provided [RCV003810740] Chr9:74750648 [GRCh38]
Chr9:77365564 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2775C>T (p.Phe925=) single nucleotide variant not provided [RCV003726919] Chr9:74786018 [GRCh38]
Chr9:77400934 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1498-19T>G single nucleotide variant not provided [RCV003674268] Chr9:74808193 [GRCh38]
Chr9:77423109 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3042A>G (p.Val1014=) single nucleotide variant not provided [RCV003840468] Chr9:74782731 [GRCh38]
Chr9:77397647 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3352C>T (p.Leu1118=) single nucleotide variant not provided [RCV003838502] Chr9:74775934 [GRCh38]
Chr9:77390850 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5201-15C>A single nucleotide variant not provided [RCV003850205] Chr9:74740024 [GRCh38]
Chr9:77354940 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5488-20C>G single nucleotide variant not provided [RCV003673277] Chr9:74739469 [GRCh38]
Chr9:77354385 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.234T>C (p.Ser78=) single nucleotide variant not provided [RCV003816052] Chr9:74842262 [GRCh38]
Chr9:77457178 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1497+19C>A single nucleotide variant not provided [RCV003814415] Chr9:74810796 [GRCh38]
Chr9:77425712 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.516G>A (p.Ala172=) single nucleotide variant not provided [RCV003549147] Chr9:74840052 [GRCh38]
Chr9:77454968 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.33+17C>G single nucleotide variant not provided [RCV003838866] Chr9:74887807 [GRCh38]
Chr9:77502723 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2351G>A (p.Ser784Asn) single nucleotide variant not provided [RCV003846352] Chr9:74796781 [GRCh38]
Chr9:77411697 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.1677A>C (p.Ala559=) single nucleotide variant not provided [RCV003731693] Chr9:74803848 [GRCh38]
Chr9:77418764 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4494C>A (p.Ser1498=) single nucleotide variant not provided [RCV003542008] Chr9:74762177 [GRCh38]
Chr9:77377093 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4828C>T (p.Pro1610Ser) single nucleotide variant not provided [RCV003677715] Chr9:74755431 [GRCh38]
Chr9:77370347 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5860T>C (p.Leu1954=) single nucleotide variant not provided [RCV003556399] Chr9:74728314 [GRCh38]
Chr9:77343230 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5058-8del deletion not provided [RCV003734928] Chr9:74747922 [GRCh38]
Chr9:77362838 [GRCh37]
Chr9:9q21.13		 benign
NM_017662.5(TRPM6):c.3753C>T (p.His1251=) single nucleotide variant not provided [RCV003552122] Chr9:74762918 [GRCh38]
Chr9:77377834 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.34-8C>A single nucleotide variant not provided [RCV003711538] Chr9:74858756 [GRCh38]
Chr9:77473672 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1464A>G (p.Thr488=) single nucleotide variant not provided [RCV003729293] Chr9:74810848 [GRCh38]
Chr9:77425764 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1392G>T (p.Val464=) single nucleotide variant not provided [RCV003864612] Chr9:74812350 [GRCh38]
Chr9:77427266 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3015A>G (p.Pro1005=) single nucleotide variant not provided [RCV003820660] Chr9:74782758 [GRCh38]
Chr9:77397674 [GRCh37]
Chr9:9q21.13		 likely benign
GRCh37/hg19 9q21.13(chr9:76897502-78586137)x3 copy number gain not specified [RCV003986813] Chr9:76897502..78586137 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.741C>T (p.His247=) single nucleotide variant not provided [RCV003734929] Chr9:74827878 [GRCh38]
Chr9:77442794 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5155A>C (p.Met1719Leu) single nucleotide variant not provided [RCV003553714] Chr9:74742606 [GRCh38]
Chr9:77357522 [GRCh37]
Chr9:9q21.13		 uncertain significance
NM_017662.5(TRPM6):c.5084-12C>T single nucleotide variant not provided [RCV003869436] Chr9:74744157 [GRCh38]
Chr9:77359073 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5936-15T>G single nucleotide variant not provided [RCV003847827] Chr9:74724761 [GRCh38]
Chr9:77339677 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1923G>A (p.Ala641=) single nucleotide variant not provided [RCV003737852] Chr9:74801984 [GRCh38]
Chr9:77416900 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5057+7A>G single nucleotide variant not provided [RCV003676731] Chr9:74750657 [GRCh38]
Chr9:77365573 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3404-4A>G single nucleotide variant not provided [RCV003843018] Chr9:74771839 [GRCh38]
Chr9:77386755 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.5346T>C (p.Ala1782=) single nucleotide variant not provided [RCV003840600] Chr9:74739864 [GRCh38]
Chr9:77354780 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1497+20G>A single nucleotide variant not provided [RCV003847911] Chr9:74810795 [GRCh38]
Chr9:77425711 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2392-4A>G single nucleotide variant not provided [RCV003675872] Chr9:74792774 [GRCh38]
Chr9:77407690 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3066C>T (p.Tyr1022=) single nucleotide variant not provided [RCV003550505] Chr9:74782707 [GRCh38]
Chr9:77397623 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.4866C>T (p.Tyr1622=) single nucleotide variant not provided [RCV003863734] Chr9:74755393 [GRCh38]
Chr9:77370309 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.2415C>T (p.Gly805=) single nucleotide variant not provided [RCV003818861] Chr9:74792747 [GRCh38]
Chr9:77407663 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.1282_1283del (p.Ile428fs) microsatellite not provided [RCV003707003] Chr9:74816694..74816695 [GRCh38]
Chr9:77431610..77431611 [GRCh37]
Chr9:9q21.13		 pathogenic
NM_017662.5(TRPM6):c.2835C>T (p.Asp945=) single nucleotide variant TRPM6-related condition [RCV003911627] Chr9:74785958 [GRCh38]
Chr9:77400874 [GRCh37]
Chr9:9q21.13		 likely benign
NM_017662.5(TRPM6):c.3150A>G (p.Gln1050=) single nucleotide variant TRPM6-related condition [RCV003983460] Chr9:74782421 [GRCh38]
Chr9:77397337 [GRCh37]
Chr9:9q21.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5783
Count of miRNA genes:901
Interacting mature miRNAs:1043
Transcripts:ENST00000359047, ENST00000360774, ENST00000361255, ENST00000376864, ENST00000376871, ENST00000376872, ENST00000449912, ENST00000451710, ENST00000483186
Prediction methods:Miranda, Rnahybrid, Targetscan
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.

Markers in Region
RH121555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37977,365,718 - 77,366,041UniSTSGRCh37
Build 36976,555,538 - 76,555,861RGDNCBI36
Celera947,939,751 - 47,940,074RGD
Cytogenetic Map9q21.13UniSTS
HuRef947,187,823 - 47,188,146UniSTS
TNG Radiation Hybrid Map925713.0UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
FCA763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37977,439,607 - 77,441,258UniSTSGRCh37
Celera948,013,634 - 48,015,285UniSTS
HuRef947,261,727 - 47,263,378UniSTS


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 pharyngeal arch
High
Medium 121 9 1 1 22 1 4 4 3 1 3
Low 846 926 587 78 1104 20 2259 311 2747 177 916 738 60 1019 1051 3 1
Below cutoff 1462 2034 1016 433 401 333 2073 1869 966 209 509 845 110 185 1725 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF350881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF448232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL354795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY333282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY333283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY333284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY333285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY333286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY333287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY333288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000359047   ⟹   ENSP00000351942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl974,826,757 - 74,888,094 (-)Ensembl
RefSeq Acc Id: ENST00000360774   ⟹   ENSP00000354006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl974,722,495 - 74,887,921 (-)Ensembl
RefSeq Acc Id: ENST00000361255   ⟹   ENSP00000354962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl974,722,495 - 74,887,347 (-)Ensembl
RefSeq Acc Id: ENST00000449912   ⟹   ENSP00000396672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl974,722,495 - 74,887,720 (-)Ensembl
RefSeq Acc Id: ENST00000483186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl974,820,232 - 74,834,057 (-)Ensembl
RefSeq Acc Id: NM_001177310   ⟹   NP_001170781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38974,722,495 - 74,887,720 (-)NCBI
GRCh37977,337,411 - 77,503,010 (-)ENTREZGENE
HuRef947,159,778 - 47,325,152 (-)ENTREZGENE
CHM1_1977,483,852 - 77,649,122 (-)NCBI
T2T-CHM13v2.0986,875,552 - 87,040,824 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001177311   ⟹   NP_001170782
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38974,722,495 - 74,887,347 (-)NCBI
GRCh37977,337,411 - 77,503,010 (-)ENTREZGENE
HuRef947,159,778 - 47,325,152 (-)ENTREZGENE
CHM1_1977,483,852 - 77,648,747 (-)NCBI
T2T-CHM13v2.0986,875,552 - 87,040,449 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017662   ⟹   NP_060132
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38974,722,495 - 74,887,921 (-)NCBI
GRCh37977,337,411 - 77,503,010 (-)ENTREZGENE
Build 36976,527,231 - 76,692,830 (-)NCBI Archive
HuRef947,159,778 - 47,325,152 (-)ENTREZGENE
CHM1_1977,483,852 - 77,649,496 (-)NCBI
T2T-CHM13v2.0986,875,552 - 87,041,025 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001170781 (Get FASTA)   NCBI Sequence Viewer  
  NP_001170782 (Get FASTA)   NCBI Sequence Viewer  
  NP_060132 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAK31202 (Get FASTA)   NCBI Sequence Viewer  
  AAM21562 (Get FASTA)   NCBI Sequence Viewer  
  AAR03487 (Get FASTA)   NCBI Sequence Viewer  
  AAR03488 (Get FASTA)   NCBI Sequence Viewer  
  AAR03489 (Get FASTA)   NCBI Sequence Viewer  
  AAR03490 (Get FASTA)   NCBI Sequence Viewer  
  AAR03491 (Get FASTA)   NCBI Sequence Viewer  
  AAR03492 (Get FASTA)   NCBI Sequence Viewer  
  AAR03493 (Get FASTA)   NCBI Sequence Viewer  
  BAA90941 (Get FASTA)   NCBI Sequence Viewer  
  BAB15429 (Get FASTA)   NCBI Sequence Viewer  
  BAB71558 (Get FASTA)   NCBI Sequence Viewer  
  EAW62553 (Get FASTA)   NCBI Sequence Viewer  
  EAW62554 (Get FASTA)   NCBI Sequence Viewer  
  EAW62555 (Get FASTA)   NCBI Sequence Viewer  
  EAW62556 (Get FASTA)   NCBI Sequence Viewer  
  EAW62557 (Get FASTA)   NCBI Sequence Viewer  
  EAW62558 (Get FASTA)   NCBI Sequence Viewer  
  EAW62559 (Get FASTA)   NCBI Sequence Viewer  
  EAW62560 (Get FASTA)   NCBI Sequence Viewer  
  EAW62561 (Get FASTA)   NCBI Sequence Viewer  
  EAW62562 (Get FASTA)   NCBI Sequence Viewer  
  EAW62563 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000351942.2
  ENSP00000354006
  ENSP00000354006.1
  ENSP00000354962
  ENSP00000354962.3
  ENSP00000396672
  ENSP00000396672.2
GenBank Protein Q9BX84 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_060132   ⟸   NM_017662
- Peptide Label: isoform a
- UniProtKB: Q6VPS1 (UniProtKB/Swiss-Prot),   Q6VPS0 (UniProtKB/Swiss-Prot),   Q6VPR9 (UniProtKB/Swiss-Prot),   Q6VPR8 (UniProtKB/Swiss-Prot),   Q6VPS2 (UniProtKB/Swiss-Prot),   Q9BX84 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001170781   ⟸   NM_001177310
- Peptide Label: isoform b
- UniProtKB: Q9BX84 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001170782   ⟸   NM_001177311
- Peptide Label: isoform c
- UniProtKB: Q9BX84 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000351942   ⟸   ENST00000359047
RefSeq Acc Id: ENSP00000354006   ⟸   ENST00000360774
RefSeq Acc Id: ENSP00000354962   ⟸   ENST00000361255
RefSeq Acc Id: ENSP00000396672   ⟸   ENST00000449912
Protein Domains
Alpha-type protein kinase   TRPM SLOG

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BX84-F1-model_v2 AlphaFold Q9BX84 1-2022 view protein structure

Promoters
RGD ID:7215263
Promoter ID:EPDNEW_H13378
Type:single initiation site
Name:TRPM6_1
Description:transient receptor potential cation channel subfamily M member6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38974,888,158 - 74,888,218EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17995 AgrOrtholog
COSMIC TRPM6 COSMIC
Ensembl Genes ENSG00000119121 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000359047.2 UniProtKB/TrEMBL
  ENST00000360774 ENTREZGENE
  ENST00000360774.6 UniProtKB/Swiss-Prot
  ENST00000361255 ENTREZGENE
  ENST00000361255.7 UniProtKB/Swiss-Prot
  ENST00000449912 ENTREZGENE
  ENST00000449912.6 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.1010 UniProtKB/Swiss-Prot
  MHCK/EF2 kinase UniProtKB/Swiss-Prot
GTEx ENSG00000119121 GTEx
HGNC ID HGNC:17995 ENTREZGENE
Human Proteome Map TRPM6 Human Proteome Map
InterPro Ion_trans_dom UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  MHCK_EF2_kinase UniProtKB/Swiss-Prot
  TRPM6 UniProtKB/Swiss-Prot
  TRPM_SLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPM_tetra UniProtKB/Swiss-Prot
  TRPM_tetra_sf UniProtKB/Swiss-Prot
KEGG Report hsa:140803 UniProtKB/Swiss-Prot
NCBI Gene 140803 ENTREZGENE
OMIM 607009 OMIM
PANTHER PTHR13800:SF15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Alpha_kinase UniProtKB/Swiss-Prot
  Ion_trans UniProtKB/Swiss-Prot
  LSDAT_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPM_tetra UniProtKB/Swiss-Prot
PharmGKB PA38479 PharmGKB
PROSITE ALPHA_KINASE UniProtKB/Swiss-Prot
SMART Alpha_kinase UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
UniProt Q6VPR8 ENTREZGENE
  Q6VPR9 ENTREZGENE
  Q6VPS0 ENTREZGENE
  Q6VPS1 ENTREZGENE
  Q6VPS2 ENTREZGENE
  Q96LV9_HUMAN UniProtKB/TrEMBL
  Q9BX84 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6VPR8 UniProtKB/Swiss-Prot
  Q6VPR9 UniProtKB/Swiss-Prot
  Q6VPS0 UniProtKB/Swiss-Prot
  Q6VPS1 UniProtKB/Swiss-Prot
  Q6VPS2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 TRPM6  transient receptor potential cation channel subfamily M member 6    transient receptor potential cation channel, subfamily M, member 6  Symbol and/or name change 5135510 APPROVED