GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 |
copy number gain |
See cases [RCV000050876] |
Chr7:129310166..159282390 [GRCh38] Chr7:128950007..159075079 [GRCh37] Chr7:128737243..158767840 [NCBI36] Chr7:7q32.1-36.3 |
pathogenic |
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1 |
copy number loss |
See cases [RCV000050639] |
Chr7:142578948..144254897 [GRCh38] Chr7:142528609..143951990 [GRCh37] Chr7:141967554..143582923 [NCBI36] Chr7:7q34-35 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 |
copy number gain |
See cases [RCV000051101] |
Chr7:132850196..159325876 [GRCh38] Chr7:132534956..159118566 [GRCh37] Chr7:132185496..158811327 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 |
copy number loss |
See cases [RCV000052250] |
Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 |
copy number gain |
See cases [RCV000053576] |
Chr7:136309982..159307523 [GRCh38] Chr7:135994730..159100212 [GRCh37] Chr7:135645270..158792973 [NCBI36] Chr7:7q33-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] |
Chr7:142021716..159325876 [GRCh38] Chr7:142528609..159118566 [GRCh37] Chr7:141367985..158811327 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] |
Chr7:132023155..149309794 [GRCh38] Chr7:131707914..149006885 [GRCh37] Chr7:131358454..148637818 [NCBI36] Chr7:7q32.3-36.1 |
pathogenic |
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 |
copy number loss |
See cases [RCV000054173] |
Chr7:135414108..144140219 [GRCh38] Chr7:135098857..143837312 [GRCh37] Chr7:134749397..143468245 [NCBI36] Chr7:7q33-35 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] |
Chr7:139365967..159282531 [GRCh38] Chr7:139050713..159075220 [GRCh37] Chr7:138701253..158767981 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 |
copy number loss |
See cases [RCV000054176] |
Chr7:140754198..159307523 [GRCh38] Chr7:140453998..159100212 [GRCh37] Chr7:140100467..158792973 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 |
copy number loss |
See cases [RCV000054177] |
Chr7:142358524..159282531 [GRCh38] Chr7:142528609..159075220 [GRCh37] Chr7:141726947..158767981 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
NM_018646.5(TRPV6):c.1983G>A (p.Arg?=) |
single nucleotide variant |
Malignant melanoma [RCV000067705] |
Chr7:142872404 [GRCh38] Chr7:142570157 [GRCh37] Chr7:142280279 [NCBI36] Chr7:7q34 |
not provided |
NM_018646.5(TRPV6):c.1595G>A (p.Arg?Gln) |
single nucleotide variant |
Malignant melanoma [RCV000067706] |
Chr7:142874120 [GRCh38] Chr7:142571873 [GRCh37] Chr7:142281995 [NCBI36] Chr7:7q34 |
not provided |
NM_018646.5(TRPV6):c.852C>T (p.Phe?=) |
single nucleotide variant |
Malignant melanoma [RCV000067707] |
Chr7:142876438 [GRCh38] Chr7:142574191 [GRCh37] Chr7:142284313 [NCBI36] Chr7:7q34 |
not provided |
NM_018646.6(TRPV6):c.1463G>A (p.Ser488Asn) |
single nucleotide variant |
not provided [RCV000054751] |
Chr7:142874600 [GRCh38] Chr7:142572353 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1558A>C (p.Ile520Leu) |
single nucleotide variant |
not provided [RCV000054752] |
Chr7:142874505 [GRCh38] Chr7:142572258 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1904C>A (p.Ala635Asp) |
single nucleotide variant |
not provided [RCV000054753] |
Chr7:142873452 [GRCh38] Chr7:142571205 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.402C>T (p.Ala134=) |
single nucleotide variant |
not provided [RCV000054754] |
Chr7:142877718 [GRCh38] Chr7:142575471 [GRCh37] Chr7:7q34 |
likely benign|uncertain significance |
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 |
copy number gain |
See cases [RCV000133645] |
Chr7:141126407..145652221 [GRCh38] Chr7:140826207..145349314 [GRCh37] Chr7:140472676..144980247 [NCBI36] Chr7:7q34-35 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 |
copy number loss |
See cases [RCV000135401] |
Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 |
copy number gain |
See cases [RCV000136592] |
Chr7:137751200..154815582 [GRCh38] Chr7:137435946..154607292 [GRCh37] Chr7:137086486..154238225 [NCBI36] Chr7:7q33-36.2 |
pathogenic |
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 |
copy number gain |
See cases [RCV000136717] |
Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3 |
pathogenic |
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 |
copy number loss |
See cases [RCV000137256] |
Chr7:141960861..159335866 [GRCh38] Chr7:142528609..159128556 [GRCh37] Chr7:141307130..158821317 [NCBI36] Chr7:7q34-36.3 |
pathogenic |
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 |
copy number loss |
See cases [RCV000138120] |
Chr7:134666829..158591882 [GRCh38] Chr7:134351581..158384574 [GRCh37] Chr7:134002121..158077335 [NCBI36] Chr7:7q33-36.3 |
pathogenic |
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 |
copy number gain |
See cases [RCV000138847] |
Chr7:121863759..159335865 [GRCh38] Chr7:121503813..159128555 [GRCh37] Chr7:121291049..158821316 [NCBI36] Chr7:7q31.32-36.3 |
pathogenic |
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 |
copy number loss |
See cases [RCV000138903] |
Chr7:135017687..148807400 [GRCh38] Chr7:134702438..148504492 [GRCh37] Chr7:134352978..148135425 [NCBI36] Chr7:7q33-36.1 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 |
copy number gain |
See cases [RCV000139654] |
Chr7:132444095..159335866 [GRCh38] Chr7:132128854..159128556 [GRCh37] Chr7:131779394..158821317 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 |
copy number gain |
See cases [RCV000141413] |
Chr7:115459015..159325817 [GRCh38] Chr7:115099069..159118507 [GRCh37] Chr7:114886305..158811268 [NCBI36] Chr7:7q31.2-36.3 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 |
copy number gain |
See cases [RCV000142802] |
Chr7:131228764..159335866 [GRCh38] Chr7:130913523..159128556 [GRCh37] Chr7:130564063..158821317 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 |
copy number gain |
See cases [RCV000143754] |
Chr7:131171478..159327017 [GRCh38] Chr7:130856237..159119707 [GRCh37] Chr7:130506777..158812468 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 |
copy number gain |
See cases [RCV000143724] |
Chr7:140061285..144622893 [GRCh38] Chr7:139761085..144319986 [GRCh37] Chr7:139407554..143950919 [NCBI36] Chr7:7q34-35 |
uncertain significance |
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 |
copy number gain |
See cases [RCV000143707] |
Chr7:132438072..159327017 [GRCh38] Chr7:132122831..159119707 [GRCh37] Chr7:131773371..158812468 [NCBI36] Chr7:7q32.3-36.3 |
pathogenic |
NM_018646.6(TRPV6):c.1765G>A (p.Val589Met) |
single nucleotide variant |
not provided [RCV001804186] |
Chr7:142873591 [GRCh38] Chr7:142571344 [GRCh37] Chr7:7q34 |
uncertain significance |
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 |
copy number gain |
See cases [RCV000449264] |
Chr7:137589621..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 |
copy number loss |
See cases [RCV000446044] |
Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 |
copy number loss |
See cases [RCV000448836] |
Chr7:133799185..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 |
copy number gain |
See cases [RCV000447709] |
Chr7:98969247..159119707 [GRCh37] Chr7:7q22.1-36.3 |
pathogenic |
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 |
copy number gain |
See cases [RCV000447956] |
Chr7:128276078..159119707 [GRCh37] Chr7:7q32.1-36.3 |
pathogenic |
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 |
copy number loss |
See cases [RCV000510250] |
Chr7:140636858..159119707 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) |
copy number gain |
See cases [RCV000510686] |
Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 |
copy number gain |
See cases [RCV000510490] |
Chr7:136758593..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 |
copy number gain |
See cases [RCV000511549] |
Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 |
copy number loss |
See cases [RCV000511889] |
Chr7:137917376..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
NM_018646.6(TRPV6):c.197G>A (p.Arg66Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003295019] |
Chr7:142885440 [GRCh38] Chr7:142583185 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.2124G>C (p.Glu708Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003287636] |
Chr7:142871881 [GRCh38] Chr7:142569634 [GRCh37] Chr7:7q34 |
uncertain significance |
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327610] |
Chr7:138620939..159233475 [GRCh38] Chr7:7q34-36.3 |
likely pathogenic |
NM_018646.6(TRPV6):c.1963C>T (p.Arg655Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003269910] |
Chr7:142872424 [GRCh38] Chr7:142570177 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.607+5G>A |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV000721918] |
Chr7:142877137 [GRCh38] Chr7:142574890 [GRCh37] Chr7:7q34 |
pathogenic |
NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs) |
duplication |
Hyperparathyroidism, transient neonatal [RCV000721913]|not provided [RCV001008769] |
Chr7:142877215..142877216 [GRCh38] Chr7:142574968..142574969 [GRCh37] Chr7:7q34 |
pathogenic |
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV000721914]|not provided [RCV003546592] |
Chr7:142876777 [GRCh38] Chr7:142574530 [GRCh37] Chr7:7q34 |
pathogenic|likely pathogenic|uncertain significance |
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV000721915] |
Chr7:142875133 [GRCh38] Chr7:142572886 [GRCh37] Chr7:7q34 |
pathogenic|likely pathogenic |
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 |
copy number loss |
not provided [RCV000682910] |
Chr7:140133025..158982771 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 |
copy number gain |
not provided [RCV000682911] |
Chr7:98693388..159119707 [GRCh37] Chr7:7q22.1-36.3 |
pathogenic |
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV000721916] |
Chr7:142874958 [GRCh38] Chr7:142572711 [GRCh37] Chr7:7q34 |
pathogenic|likely pathogenic |
NM_018646.6(TRPV6):c.978_979del (p.Gly327_Asp328insTer) |
deletion |
Hyperparathyroidism, transient neonatal [RCV000721917] |
Chr7:142875808..142875809 [GRCh38] Chr7:142573561..142573562 [GRCh37] Chr7:7q34 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 |
copy number gain |
not provided [RCV000746278] |
Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 |
copy number gain |
not provided [RCV000746280] |
Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 |
copy number gain |
not provided [RCV000747069] |
Chr7:139623170..143710268 [GRCh37] Chr7:7q34-35 |
benign |
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 |
copy number gain |
not provided [RCV000747070] |
Chr7:139623170..158329903 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 |
copy number loss |
not provided [RCV000747083] |
Chr7:141938235..159126310 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
NM_018646.6(TRPV6):c.635G>A (p.Cys212Tyr) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV000853473] |
Chr7:142876810 [GRCh38] Chr7:142574563 [GRCh37] Chr7:7q34 |
likely pathogenic |
NM_018646.6(TRPV6):c.1447C>T (p.Arg483Trp) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV000853475] |
Chr7:142874616 [GRCh38] Chr7:142572369 [GRCh37] Chr7:7q34 |
likely pathogenic |
NM_018646.6(TRPV6):c.715_724del (p.Val239fs) |
deletion |
Hyperparathyroidism, transient neonatal [RCV003314503] |
Chr7:142876566..142876575 [GRCh38] Chr7:142574319..142574328 [GRCh37] Chr7:7q34 |
likely pathogenic |
NM_018646.6(TRPV6):c.1092C>T (p.Tyr364=) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV002502907]|TRPV6-related disorder [RCV003933247]|not provided [RCV000947077] |
Chr7:142875618 [GRCh38] Chr7:142573371 [GRCh37] Chr7:7q34 |
benign|likely benign |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 |
copy number gain |
not provided [RCV000848126] |
Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) |
copy number gain |
not provided [RCV000767558] |
Chr7:128312450..159119220 [GRCh37] Chr7:7q32.1-36.3 |
pathogenic |
NM_018646.6(TRPV6):c.969C>T (p.Ile323=) |
single nucleotide variant |
TRPV6-related disorder [RCV003968388]|not provided [RCV000910206] |
Chr7:142875818 [GRCh38] Chr7:142573571 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.52= (p.Ala18=) |
variation |
not provided [RCV000947078] |
Chr7:142885585 [GRCh38] Chr7:142583330 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.52G>T (p.Ala18Ser) |
single nucleotide variant |
not provided [RCV000954439] |
Chr7:142885585 [GRCh38] Chr7:142583330 [GRCh37] Chr7:7q34 |
benign |
GRCh37/hg19 7q34(chr7:142565890-142706787)x3 |
copy number gain |
not provided [RCV000849722] |
Chr7:142565890..142706787 [GRCh37] Chr7:7q34 |
uncertain significance |
GRCh37/hg19 7q34(chr7:142568958-142706787)x3 |
copy number gain |
not provided [RCV000848853] |
Chr7:142568958..142706787 [GRCh37] Chr7:7q34 |
uncertain significance |
GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3 |
copy number gain |
not provided [RCV000848670] |
Chr7:141751875..147105208 [GRCh37] Chr7:7q34-35 |
uncertain significance |
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 |
copy number loss |
See cases [RCV001007432] |
Chr7:131414604..159126310 [GRCh37] Chr7:7q32.3-36.3 |
pathogenic |
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 |
copy number gain |
not provided [RCV001005994] |
Chr7:109251060..159119707 [GRCh37] Chr7:7q31.1-36.3 |
pathogenic |
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 |
copy number gain |
not provided [RCV000849569] |
Chr7:130592554..159119707 [GRCh37] Chr7:7q32.3-36.3 |
pathogenic |
NM_018646.6(TRPV6):c.1672G>A (p.Glu558Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003272521] |
Chr7:142873684 [GRCh38] Chr7:142571437 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1978G>C (p.Gly660Arg) |
single nucleotide variant |
Slender long bone [RCV001009621] |
Chr7:142872409 [GRCh38] Chr7:142570162 [GRCh37] Chr7:7q34 |
likely pathogenic |
GRCh37/hg19 7q34(chr7:141937588-142716850)x3 |
copy number gain |
Newborn respiratory distress syndrome [RCV002284310] |
Chr7:141937588..142716850 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1282G>A (p.Gly428Arg) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV000853474] |
Chr7:142875125 [GRCh38] Chr7:142572878 [GRCh37] Chr7:7q34 |
likely pathogenic |
NM_018646.6(TRPV6):c.1764C>T (p.Asn588=) |
single nucleotide variant |
TRPV6-related disorder [RCV003958217]|not provided [RCV000905394] |
Chr7:142873592 [GRCh38] Chr7:142571345 [GRCh37] Chr7:7q34 |
benign|likely benign |
NM_018646.6(TRPV6):c.927G>A (p.Thr309=) |
single nucleotide variant |
not provided [RCV000956538] |
Chr7:142875860 [GRCh38] Chr7:142573613 [GRCh37] Chr7:7q34 |
benign |
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327609] |
Chr7:137463392..159345973 [GRCh38] Chr7:7q33-36.3 |
pathogenic |
NM_018646.6(TRPV6):c.1646A>G (p.Tyr549Cys) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV001200883] |
Chr7:142873710 [GRCh38] Chr7:142571463 [GRCh37] Chr7:7q34 |
likely pathogenic |
NM_018646.6(TRPV6):c.713C>G (p.Thr238Arg) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV001329686] |
Chr7:142876577 [GRCh38] Chr7:142574330 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1744G>A (p.Asp582Asn) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV001280805] |
Chr7:142873612 [GRCh38] Chr7:142571365 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.524C>T (p.Ala175Val) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV001329685] |
Chr7:142877225 [GRCh38] Chr7:142574978 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1329+1G>A |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV001783916] |
Chr7:142875077 [GRCh38] Chr7:142572830 [GRCh37] Chr7:7q34 |
likely pathogenic |
NM_018646.6(TRPV6):c.830A>G (p.Asn277Ser) |
single nucleotide variant |
not provided [RCV001767449] |
Chr7:142876460 [GRCh38] Chr7:142574213 [GRCh37] Chr7:7q34 |
uncertain significance |
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 |
copy number loss |
Hypertelorism [RCV001801200] |
Chr7:133848099..145814115 [GRCh37] Chr7:7q33-35 |
pathogenic |
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 |
copy number gain |
not provided [RCV001834520] |
Chr7:133851002..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
NC_000007.13:g.(?_130781014)_(150301047_?)del |
deletion |
not provided [RCV003116360] |
Chr7:130781014..150301047 [GRCh37] Chr7:7q32.3-36.1 |
pathogenic |
Single allele |
complex |
Ring chromosome 7 [RCV002280646] |
Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 |
copy number loss |
See cases [RCV002287832] |
Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3 |
uncertain significance |
NM_018646.6(TRPV6):c.1338C>T (p.Asp446=) |
single nucleotide variant |
not provided [RCV002293178] |
Chr7:142874972 [GRCh38] Chr7:142572725 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1922C>T (p.Thr641Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002859110] |
Chr7:142872465 [GRCh38] Chr7:142570218 [GRCh37] Chr7:7q34 |
uncertain significance |
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 |
copy number loss |
not provided [RCV002472560] |
Chr7:131779213..149042734 [GRCh37] Chr7:7q32.3-36.1 |
pathogenic |
NM_018646.6(TRPV6):c.1031C>T (p.Ala344Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002817090] |
Chr7:142875679 [GRCh38] Chr7:142573432 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1936C>T (p.Arg646Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002749209]|not provided [RCV003548968] |
Chr7:142872451 [GRCh38] Chr7:142570204 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.765G>A (p.Met255Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002732877] |
Chr7:142876525 [GRCh38] Chr7:142574278 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2080C>T (p.Arg694Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002703834] |
Chr7:142871925 [GRCh38] Chr7:142569678 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.209C>T (p.Ala70Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002757239] |
Chr7:142885428 [GRCh38] Chr7:142583173 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.428C>T (p.Pro143Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002783944] |
Chr7:142877692 [GRCh38] Chr7:142575445 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1195C>T (p.Arg399Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002759472] |
Chr7:142875515 [GRCh38] Chr7:142573268 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.947C>G (p.Thr316Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002976763] |
Chr7:142875840 [GRCh38] Chr7:142573593 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2041C>T (p.Arg681Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002925224] |
Chr7:142871964 [GRCh38] Chr7:142569717 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1513G>A (p.Val505Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002738634] |
Chr7:142874550 [GRCh38] Chr7:142572303 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2057G>A (p.Arg686His) |
single nucleotide variant |
Inborn genetic diseases [RCV002910481] |
Chr7:142871948 [GRCh38] Chr7:142569701 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.614A>G (p.His205Arg) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV003989816]|Inborn genetic diseases [RCV002708587]|not provided [RCV003548959] |
Chr7:142876831 [GRCh38] Chr7:142574584 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.124G>A (p.Gly42Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002699092] |
Chr7:142885513 [GRCh38] Chr7:142583258 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1970G>T (p.Gly657Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002891818] |
Chr7:142872417 [GRCh38] Chr7:142570170 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1492C>T (p.Leu498Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002874492] |
Chr7:142874571 [GRCh38] Chr7:142572324 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2177G>A (p.Arg726Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002832286] |
Chr7:142871828 [GRCh38] Chr7:142569581 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.787G>A (p.Asp263Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002963632]|not provided [RCV003561132] |
Chr7:142876503 [GRCh38] Chr7:142574256 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1258C>G (p.Pro420Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002668373]|not provided [RCV003777581] |
Chr7:142875149 [GRCh38] Chr7:142572902 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1780A>G (p.Met594Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002652706] |
Chr7:142873576 [GRCh38] Chr7:142571329 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2243G>A (p.Arg748His) |
single nucleotide variant |
Inborn genetic diseases [RCV003255018] |
Chr7:142871762 [GRCh38] Chr7:142569515 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2035C>A (p.Leu679Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003220617] |
Chr7:142871970 [GRCh38] Chr7:142569723 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.970G>A (p.Asp324Asn) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV003142852] |
Chr7:142875817 [GRCh38] Chr7:142573570 [GRCh37] Chr7:7q34 |
uncertain significance |
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 |
copy number loss |
not provided [RCV003334300] |
Chr7:140154317..152551638 [GRCh37] Chr7:7q34-36.1 |
pathogenic |
NM_018646.6(TRPV6):c.218G>A (p.Arg73Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003374042] |
Chr7:142885419 [GRCh38] Chr7:142583164 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1525G>A (p.Ala509Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003385691] |
Chr7:142874538 [GRCh38] Chr7:142572291 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.513C>G (p.Asn171Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003352666] |
Chr7:142877236 [GRCh38] Chr7:142574989 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.634T>C (p.Cys212Arg) |
single nucleotide variant |
not provided [RCV003570015] |
Chr7:142876811 [GRCh38] Chr7:142574564 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.67C>A (p.Pro23Thr) |
single nucleotide variant |
not provided [RCV003569062] |
Chr7:142885570 [GRCh38] Chr7:142583315 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1067T>C (p.Leu356Pro) |
single nucleotide variant |
not provided [RCV003434205] |
Chr7:142875643 [GRCh38] Chr7:142573396 [GRCh37] Chr7:7q34 |
uncertain significance |
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 |
copy number loss |
not provided [RCV003482989] |
Chr7:142099013..159119707 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 |
copy number loss |
not provided [RCV003482988] |
Chr7:135639005..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
NM_018646.6(TRPV6):c.896T>A (p.Leu299Gln) |
single nucleotide variant |
not provided [RCV003434206] |
Chr7:142875891 [GRCh38] Chr7:142573644 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.2227C>T (p.Leu743=) |
single nucleotide variant |
not provided [RCV003696698] |
Chr7:142871778 [GRCh38] Chr7:142569531 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1572+17A>G |
single nucleotide variant |
not provided [RCV003882550] |
Chr7:142874474 [GRCh38] Chr7:142572227 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.237G>T (p.Leu79=) |
single nucleotide variant |
not provided [RCV003696699] |
Chr7:142885400 [GRCh38] Chr7:142583145 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.347-6T>C |
single nucleotide variant |
not provided [RCV003572447] |
Chr7:142877779 [GRCh38] Chr7:142575532 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.707-13G>C |
single nucleotide variant |
not provided [RCV003848898] |
Chr7:142876596 [GRCh38] Chr7:142574349 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1216A>G (p.Thr406Ala) |
single nucleotide variant |
not provided [RCV003577333] |
Chr7:142875494 [GRCh38] Chr7:142573247 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1253T>C (p.Met418Thr) |
single nucleotide variant |
not provided [RCV003546221] |
Chr7:142875154 [GRCh38] Chr7:142572907 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.919C>T (p.Gln307Ter) |
single nucleotide variant |
not provided [RCV003547602] |
Chr7:142875868 [GRCh38] Chr7:142573621 [GRCh37] Chr7:7q34 |
pathogenic |
NM_018646.6(TRPV6):c.654C>T (p.Ile218=) |
single nucleotide variant |
TRPV6-related disorder [RCV003929211]|not provided [RCV003573186] |
Chr7:142876791 [GRCh38] Chr7:142574544 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1969G>A (p.Gly657Arg) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV003494602]|Inborn genetic diseases [RCV004364910] |
Chr7:142872418 [GRCh38] Chr7:142570171 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1110C>T (p.Cys370=) |
single nucleotide variant |
TRPV6-related disorder [RCV003954251]|not provided [RCV003546123] |
Chr7:142875600 [GRCh38] Chr7:142573353 [GRCh37] Chr7:7q34 |
benign|likely benign |
NM_018646.6(TRPV6):c.254G>A (p.Trp85Ter) |
single nucleotide variant |
Hyperparathyroidism, transient neonatal [RCV003494601] |
Chr7:142878021 [GRCh38] Chr7:142575774 [GRCh37] Chr7:7q34 |
likely pathogenic |
NM_018646.6(TRPV6):c.469+13G>A |
single nucleotide variant |
not provided [RCV003830190] |
Chr7:142877638 [GRCh38] Chr7:142575391 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.465T>C (p.Tyr155=) |
single nucleotide variant |
not provided [RCV003830290] |
Chr7:142877655 [GRCh38] Chr7:142575408 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1908+16G>A |
single nucleotide variant |
not provided [RCV003877505] |
Chr7:142873432 [GRCh38] Chr7:142571185 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.86G>A (p.Arg29Gln) |
single nucleotide variant |
not provided [RCV003690749] |
Chr7:142885551 [GRCh38] Chr7:142583296 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1131G>A (p.Leu377=) |
single nucleotide variant |
not provided [RCV003690748] |
Chr7:142875579 [GRCh38] Chr7:142573332 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1030-19T>C |
single nucleotide variant |
not provided [RCV003882127] |
Chr7:142875699 [GRCh38] Chr7:142573452 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1909-12T>A |
single nucleotide variant |
not provided [RCV003544831] |
Chr7:142872490 [GRCh38] Chr7:142570243 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1025G>A (p.Arg342Gln) |
single nucleotide variant |
not provided [RCV003852649] |
Chr7:142875762 [GRCh38] Chr7:142573515 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1029+14C>G |
single nucleotide variant |
not provided [RCV003840447] |
Chr7:142875744 [GRCh38] Chr7:142573497 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.119_120delinsTT (p.Pro40Leu) |
indel |
not provided [RCV003717034] |
Chr7:142885517..142885518 [GRCh38] Chr7:142583262..142583263 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2202T>C (p.Asn734=) |
single nucleotide variant |
TRPV6-related disorder [RCV003981039]|not provided [RCV003673821] |
Chr7:142871803 [GRCh38] Chr7:142569556 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1101G>A (p.Pro367=) |
single nucleotide variant |
not provided [RCV003559198] |
Chr7:142875609 [GRCh38] Chr7:142573362 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.347-18C>T |
single nucleotide variant |
not provided [RCV003833914] |
Chr7:142877791 [GRCh38] Chr7:142575544 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1998A>G (p.Gly666=) |
single nucleotide variant |
TRPV6-related disorder [RCV003966547]|not provided [RCV003666600] |
Chr7:142872389 [GRCh38] Chr7:142570142 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1406+8T>C |
single nucleotide variant |
TRPV6-related disorder [RCV003981024]|not provided [RCV003666601] |
Chr7:142874896 [GRCh38] Chr7:142572649 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.2016-18T>A |
single nucleotide variant |
not provided [RCV003815917] |
Chr7:142872007 [GRCh38] Chr7:142569760 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.996G>A (p.Leu332=) |
single nucleotide variant |
TRPV6-related disorder [RCV003948929]|not provided [RCV003700110] |
Chr7:142875791 [GRCh38] Chr7:142573544 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.589T>C (p.Cys197Arg) |
single nucleotide variant |
TRPV6-related disorder [RCV003981027]|not provided [RCV003666605] |
Chr7:142877160 [GRCh38] Chr7:142574913 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.2168C>T (p.Ser723Leu) |
single nucleotide variant |
not provided [RCV003839208] |
Chr7:142871837 [GRCh38] Chr7:142569590 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1512C>T (p.Asn504=) |
single nucleotide variant |
TRPV6-related disorder [RCV003981038]|not provided [RCV003671213] |
Chr7:142874551 [GRCh38] Chr7:142572304 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.469+12C>T |
single nucleotide variant |
not provided [RCV003837643] |
Chr7:142877639 [GRCh38] Chr7:142575392 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1407-5C>T |
single nucleotide variant |
TRPV6-related disorder [RCV003939149]|not provided [RCV003702242] |
Chr7:142874661 [GRCh38] Chr7:142572414 [GRCh37] Chr7:7q34 |
benign|likely benign |
NM_018646.6(TRPV6):c.2015+17G>A |
single nucleotide variant |
not provided [RCV003816139] |
Chr7:142872355 [GRCh38] Chr7:142570108 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1920C>T (p.Thr640=) |
single nucleotide variant |
TRPV6-related disorder [RCV003919320]|not provided [RCV003701469] |
Chr7:142872467 [GRCh38] Chr7:142570220 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.608-6C>T |
single nucleotide variant |
not provided [RCV003724698] |
Chr7:142876843 [GRCh38] Chr7:142574596 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1602C>T (p.Cys534=) |
single nucleotide variant |
not provided [RCV003559348] |
Chr7:142874113 [GRCh38] Chr7:142571866 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.2153C>T (p.Ser718Phe) |
single nucleotide variant |
not provided [RCV003724660] |
Chr7:142871852 [GRCh38] Chr7:142569605 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2162T>C (p.Met721Thr) |
single nucleotide variant |
TRPV6-related disorder [RCV003981023]|not provided [RCV003666599] |
Chr7:142871843 [GRCh38] Chr7:142569596 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1200G>A (p.Thr400=) |
single nucleotide variant |
TRPV6-related disorder [RCV003981026]|not provided [RCV003666604] |
Chr7:142875510 [GRCh38] Chr7:142573263 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1252A>G (p.Met418Val) |
single nucleotide variant |
TRPV6-related disorder [RCV003981025]|not provided [RCV003666602] |
Chr7:142875155 [GRCh38] Chr7:142572908 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.38G>C (p.Gly13Ala) |
single nucleotide variant |
not provided [RCV003554124] |
Chr7:142885599 [GRCh38] Chr7:142583344 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1056G>A (p.Pro352=) |
single nucleotide variant |
not provided [RCV003564988] |
Chr7:142875654 [GRCh38] Chr7:142573407 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1923= (p.Thr641=) |
variation |
TRPV6-related disorder [RCV003981037]|not provided [RCV003675974] |
Chr7:142872464 [GRCh38] Chr7:142570217 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.441T>C (p.Phe147=) |
single nucleotide variant |
not provided [RCV003843612] |
Chr7:142877679 [GRCh38] Chr7:142575432 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1909-5C>T |
single nucleotide variant |
not provided [RCV003552363] |
Chr7:142872483 [GRCh38] Chr7:142570236 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1572+14C>T |
single nucleotide variant |
not provided [RCV003818871] |
Chr7:142874477 [GRCh38] Chr7:142572230 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.2177G>C (p.Arg726Pro) |
single nucleotide variant |
not provided [RCV003726782] |
Chr7:142871828 [GRCh38] Chr7:142569581 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.603C>T (p.Tyr201=) |
single nucleotide variant |
not provided [RCV003733316] |
Chr7:142877146 [GRCh38] Chr7:142574899 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.29C>T (p.Pro10Leu) |
single nucleotide variant |
not provided [RCV003557160] |
Chr7:142885608 [GRCh38] Chr7:142583353 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2016-11G>A |
single nucleotide variant |
not provided [RCV003872365] |
Chr7:142872000 [GRCh38] Chr7:142569753 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1141A>G (p.Ile381Val) |
single nucleotide variant |
not provided [RCV003566500] |
Chr7:142875569 [GRCh38] Chr7:142573322 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.535C>T (p.Arg179Cys) |
single nucleotide variant |
not provided [RCV003565041] |
Chr7:142877214 [GRCh38] Chr7:142574967 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1448G>A (p.Arg483Gln) |
single nucleotide variant |
not provided [RCV003842921] |
Chr7:142874615 [GRCh38] Chr7:142572368 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.90T>C (p.Pro30=) |
single nucleotide variant |
not provided [RCV003721794] |
Chr7:142885547 [GRCh38] Chr7:142583292 [GRCh37] Chr7:7q34 |
likely benign |
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 |
copy number gain |
not specified [RCV003986713] |
Chr7:137456457..159119707 [GRCh37] Chr7:7q33-36.3 |
pathogenic |
NM_018646.6(TRPV6):c.1024C>T (p.Arg342Trp) |
single nucleotide variant |
not provided [RCV003557323] |
Chr7:142875763 [GRCh38] Chr7:142573516 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2035C>G (p.Leu679Val) |
single nucleotide variant |
not provided [RCV003870196] |
Chr7:142871970 [GRCh38] Chr7:142569723 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.706+18G>A |
single nucleotide variant |
not provided [RCV003552353] |
Chr7:142876721 [GRCh38] Chr7:142574474 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1825C>T (p.Leu609Phe) |
single nucleotide variant |
not provided [RCV003842920] |
Chr7:142873531 [GRCh38] Chr7:142571284 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1909A>G (p.Ile637Val) |
single nucleotide variant |
not provided [RCV003556950] |
Chr7:142872478 [GRCh38] Chr7:142570231 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1030-5T>C |
single nucleotide variant |
not provided [RCV003681195] |
Chr7:142875685 [GRCh38] Chr7:142573438 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1242+10T>C |
single nucleotide variant |
not provided [RCV003710965] |
Chr7:142875458 [GRCh38] Chr7:142573211 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1050G>A (p.Gln350=) |
single nucleotide variant |
not provided [RCV003730007] |
Chr7:142875660 [GRCh38] Chr7:142573413 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1168C>T (p.Arg390Cys) |
single nucleotide variant |
Hereditary pancreatitis [RCV003983781] |
Chr7:142875542 [GRCh38] Chr7:142573295 [GRCh37] Chr7:7q34 |
uncertain significance |
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 |
copy number gain |
See cases [RCV004442845] |
Chr7:141690279..159119707 [GRCh37] Chr7:7q34-36.3 |
pathogenic |
NM_018646.6(TRPV6):c.470-8dup |
duplication |
TRPV6-related disorder [RCV003969097] |
Chr7:142877286..142877287 [GRCh38] Chr7:142575039..142575040 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.1248C>A (p.Ala416=) |
single nucleotide variant |
TRPV6-related disorder [RCV003929805] |
Chr7:142875159 [GRCh38] Chr7:142572912 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1815C>T (p.Ile605=) |
single nucleotide variant |
TRPV6-related disorder [RCV003936817] |
Chr7:142873541 [GRCh38] Chr7:142571294 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1981C>T (p.Arg661Trp) |
single nucleotide variant |
TRPV6-related disorder [RCV003924700] |
Chr7:142872406 [GRCh38] Chr7:142570159 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.78C>T (p.Val26=) |
single nucleotide variant |
TRPV6-related disorder [RCV003951958] |
Chr7:142885559 [GRCh38] Chr7:142583304 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.*5G>A |
single nucleotide variant |
TRPV6-related disorder [RCV003969213] |
Chr7:142871702 [GRCh38] Chr7:142569455 [GRCh37] Chr7:7q34 |
benign |
NM_018646.6(TRPV6):c.840T>C (p.Gly280=) |
single nucleotide variant |
TRPV6-related disorder [RCV003959378] |
Chr7:142876450 [GRCh38] Chr7:142574203 [GRCh37] Chr7:7q34 |
likely benign |
NM_018646.6(TRPV6):c.1360C>T (p.Arg454Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004471372] |
Chr7:142874950 [GRCh38] Chr7:142572703 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2212C>T (p.Leu738Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004471378] |
Chr7:142871793 [GRCh38] Chr7:142569546 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1611G>A (p.Met537Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004471374] |
Chr7:142874104 [GRCh38] Chr7:142571857 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.324G>T (p.Glu108Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004471377] |
Chr7:142877951 [GRCh38] Chr7:142575704 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.358G>A (p.Glu120Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004471381] |
Chr7:142877762 [GRCh38] Chr7:142575515 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1587C>A (p.Asp529Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004471373] |
Chr7:142874128 [GRCh38] Chr7:142571881 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1754C>T (p.Ala585Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004471375] |
Chr7:142873602 [GRCh38] Chr7:142571355 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2249T>C (p.Ile750Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004471379] |
Chr7:142871756 [GRCh38] Chr7:142569509 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2278A>T (p.Ser760Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004471380] |
Chr7:142871727 [GRCh38] Chr7:142569480 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.2143C>T (p.Pro715Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004680205] |
Chr7:142871862 [GRCh38] Chr7:142569615 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.176T>G (p.Phe59Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004680207] |
Chr7:142885461 [GRCh38] Chr7:142583206 [GRCh37] Chr7:7q34 |
uncertain significance |
NM_018646.6(TRPV6):c.1055C>T (p.Pro352Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004680206] |
Chr7:142875655 [GRCh38] Chr7:142573408 [GRCh37] Chr7:7q34 |
uncertain significance |