GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 |
copy number gain |
See cases [RCV000051159] |
Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1 |
pathogenic |
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 |
copy number loss |
See cases [RCV000052249] |
Chr7:45130..5880375 [GRCh38] Chr7:45130..5920006 [GRCh37] Chr7:140213..5886532 [NCBI36] Chr7:7p22.3-22.1 |
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 7p22.3-22.1(chr7:45130-6270185)x3 |
copy number gain |
See cases [RCV000053527] |
Chr7:45130..6270185 [GRCh38] Chr7:45130..6309816 [GRCh37] Chr7:140213..6276341 [NCBI36] Chr7:7p22.3-22.1 |
pathogenic |
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 |
copy number gain |
See cases [RCV000053528] |
Chr7:53985..24361531 [GRCh38] Chr7:53985..24401150 [GRCh37] Chr7:149068..24367675 [NCBI36] Chr7:7p22.3-15.3 |
pathogenic |
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] |
Chr7:54185..8274834 [GRCh38] Chr7:54185..8314464 [GRCh37] Chr7:149268..8280989 [NCBI36] Chr7:7p22.3-21.3 |
pathogenic |
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 |
copy number gain |
See cases [RCV000053530] |
Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2 |
pathogenic |
NM_152558.4(IQCE):c.882C>T (p.Leu294=) |
single nucleotide variant |
Malignant melanoma [RCV000067833] |
Chr7:2586265 [GRCh38] Chr7:2625899 [GRCh37] Chr7:2592425 [NCBI36] Chr7:7p22.3 |
not provided |
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 7p22.3-15.2(chr7:54185-26827634)x3 |
copy number gain |
See cases [RCV000136557] |
Chr7:54185..26827634 [GRCh38] Chr7:54185..26867253 [GRCh37] Chr7:149268..26833778 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 |
copy number loss |
See cases [RCV000136789] |
Chr7:54185..3324143 [GRCh38] Chr7:54185..3363775 [GRCh37] Chr7:149268..3330301 [NCBI36] Chr7:7p22.3-22.2 |
pathogenic |
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 |
copy number gain |
See cases [RCV000136731] |
Chr7:54185..6638027 [GRCh38] Chr7:54185..6677658 [GRCh37] Chr7:149268..6644183 [NCBI36] Chr7:7p22.3-22.1 |
pathogenic |
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 |
copy number gain |
See cases [RCV000137524] |
Chr7:45130..7252065 [GRCh38] Chr7:45130..7291696 [GRCh37] Chr7:140213..7258221 [NCBI36] Chr7:7p22.3-21.3 |
pathogenic |
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 |
copy number gain |
See cases [RCV000137824] |
Chr7:45130..25221165 [GRCh38] Chr7:45130..25260784 [GRCh37] Chr7:140213..25227309 [NCBI36] Chr7:7p22.3-15.3 |
pathogenic |
GRCh38/hg38 7p22.3(chr7:2469943-2566182)x3 |
copy number gain |
See cases [RCV000139864] |
Chr7:2469943..2566182 [GRCh38] Chr7:2509578..2605816 [GRCh37] Chr7:2476104..2572342 [NCBI36] Chr7:7p22.3 |
uncertain significance |
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 |
copy number gain |
See cases [RCV000143060] |
Chr7:1698124..27207295 [GRCh38] Chr7:1737760..27246914 [GRCh37] Chr7:1704286..27213439 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 |
copy number loss |
See cases [RCV000142995] |
Chr7:54165..3258775 [GRCh38] Chr7:54165..3298407 [GRCh37] Chr7:149248..3264933 [NCBI36] Chr7:7p22.3-22.2 |
pathogenic |
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 |
copy number gain |
See cases [RCV000143175] |
Chr7:45130..3406236 [GRCh38] Chr7:45130..3445868 [GRCh37] Chr7:140213..3412394 [NCBI36] Chr7:7p22.3-22.2 |
uncertain significance |
GRCh38/hg38 7p22.3(chr7:2031462-2653470)x3 |
copy number gain |
See cases [RCV000143263] |
Chr7:2031462..2653470 [GRCh38] Chr7:2071097..2693104 [GRCh37] Chr7:2037623..2659630 [NCBI36] Chr7:7p22.3 |
likely benign|uncertain significance |
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 |
copy number gain |
See cases [RCV000143586] |
Chr7:43360..27196404 [GRCh38] Chr7:43360..27236023 [GRCh37] Chr7:138443..27202548 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh37/hg19 7p22.3-22.2(chr7:1004794-4063934)x4 |
copy number gain |
See cases [RCV000240233] |
Chr7:1004794..4063934 [GRCh37] Chr7:7p22.3-22.2 |
uncertain significance |
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 |
NM_152558.5(IQCE):c.1333C>T (p.Arg445Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000622504]|not provided [RCV004760655] |
Chr7:2593110 [GRCh38] Chr7:2632744 [GRCh37] Chr7:7p22.3 |
likely pathogenic|uncertain significance |
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 7p22.3-22.1(chr7:43360-5443709)x3 |
copy number gain |
See cases [RCV000449281] |
Chr7:43360..5443709 [GRCh37] Chr7:7p22.3-22.1 |
pathogenic |
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 |
copy number gain |
See cases [RCV000449446] |
Chr7:183556..12746636 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 |
copy number gain |
See cases [RCV000449347] |
Chr7:43360..17656861 [GRCh37] Chr7:7p22.3-21.1 |
pathogenic |
GRCh37/hg19 7p22.3-22.2(chr7:43360-2825753)x3 |
copy number gain |
See cases [RCV000447222] |
Chr7:43360..2825753 [GRCh37] Chr7:7p22.3-22.2 |
likely pathogenic |
GRCh37/hg19 7p22.3-22.2(chr7:2623826-3772851)x3 |
copy number gain |
See cases [RCV000447357] |
Chr7:2623826..3772851 [GRCh37] Chr7:7p22.3-22.2 |
uncertain significance |
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 |
copy number gain |
See cases [RCV000510652] |
Chr7:43360..23674928 [GRCh37] Chr7:7p22.3-15.3 |
pathogenic |
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 |
copy number gain |
See cases [RCV000510275] |
Chr7:704573..29257946 [GRCh37] Chr7:7p22.3-14.3 |
pathogenic |
NM_152558.5(IQCE):c.395-1G>A |
single nucleotide variant |
Polydactyly, postaxial, type a7 [RCV000500395] |
Chr7:2573417 [GRCh38] Chr7:2613051 [GRCh37] Chr7:7p22.3 |
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 7p22.3-22.2(chr7:43360-3642604)x1 |
copy number loss |
See cases [RCV000511648] |
Chr7:43360..3642604 [GRCh37] Chr7:7p22.3-22.2 |
pathogenic |
GRCh37/hg19 7p22.3-22.2(chr7:2408769-2987197)x3 |
copy number gain |
See cases [RCV000512034] |
Chr7:2408769..2987197 [GRCh37] Chr7:7p22.3-22.2 |
uncertain significance |
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 |
copy number gain |
See cases [RCV000511772] |
Chr7:43360..14664158 [GRCh37] Chr7:7p22.3-21.2 |
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 7p22.3-21.3(chr7:43360-12098696)x3 |
copy number gain |
See cases [RCV000510950] |
Chr7:43360..12098696 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
NM_152558.5(IQCE):c.1532G>A (p.Arg511His) |
single nucleotide variant |
not specified [RCV004282102] |
Chr7:2598556 [GRCh38] Chr7:2638190 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.921G>C (p.Glu307Asp) |
single nucleotide variant |
not specified [RCV004319422] |
Chr7:2586304 [GRCh38] Chr7:2625938 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1435C>T (p.His479Tyr) |
single nucleotide variant |
not specified [RCV004300364] |
Chr7:2594971 [GRCh38] Chr7:2634605 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 |
copy number gain |
See cases [RCV000512505] |
Chr7:43360..11567351 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1 |
copy number loss |
See cases [RCV000512351] |
Chr7:1201674..5175651 [GRCh37] Chr7:7p22.3-22.1 |
pathogenic |
GRCh37/hg19 7p22.3(chr7:2219184-2612472)x1 |
copy number loss |
not provided [RCV000682839] |
Chr7:2219184..2612472 [GRCh37] Chr7:7p22.3 |
likely pathogenic |
GRCh37/hg19 7p22.3(chr7:2363275-2707822)x3 |
copy number gain |
not provided [RCV000682831] |
Chr7:2363275..2707822 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1996T>G (p.Leu666Val) |
single nucleotide variant |
IQCE-related disorder [RCV003976113]|Polydactyly, postaxial, type a7 [RCV001731014] |
Chr7:2610070 [GRCh38] Chr7:2649704 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1637C>T (p.Ala546Val) |
single nucleotide variant |
IQCE-related disorder [RCV003976136]|Polydactyly, postaxial, type a7 [RCV001731105] |
Chr7:2604885 [GRCh38] Chr7:2644519 [GRCh37] Chr7:7p22.3 |
benign |
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 7p22.3(chr7:2268970-2600076)x3 |
copy number gain |
not provided [RCV000746334] |
Chr7:2268970..2600076 [GRCh37] Chr7:7p22.3 |
benign |
GRCh37/hg19 7p22.3-22.2(chr7:2605333-3559826)x3 |
copy number gain |
not provided [RCV000746343] |
Chr7:2605333..3559826 [GRCh37] Chr7:7p22.3-22.2 |
benign |
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 |
copy number gain |
not provided [RCV000746277] |
Chr7:10239..13116278 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
NM_152558.5(IQCE):c.949C>T (p.Arg317Cys) |
single nucleotide variant |
not provided [RCV000963880] |
Chr7:2586332 [GRCh38] Chr7:2625966 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.774+10G>A |
single nucleotide variant |
not provided [RCV000965031] |
Chr7:2583719 [GRCh38] Chr7:2623353 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.879C>T (p.Ala293=) |
single nucleotide variant |
not provided [RCV000965032] |
Chr7:2586262 [GRCh38] Chr7:2625896 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1164G>A (p.Lys388=) |
single nucleotide variant |
not provided [RCV000965033] |
Chr7:2590026 [GRCh38] Chr7:2629660 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1707C>T (p.Gly569=) |
single nucleotide variant |
not provided [RCV000965034] |
Chr7:2604955 [GRCh38] Chr7:2644589 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.2037C>T (p.Ser679=) |
single nucleotide variant |
not provided [RCV000883823] |
Chr7:2610111 [GRCh38] Chr7:2649745 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1872C>T (p.Thr624=) |
single nucleotide variant |
not provided [RCV000899566] |
Chr7:2607130 [GRCh38] Chr7:2646764 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1175G>A (p.Arg392His) |
single nucleotide variant |
IQCE-related disorder [RCV003936105]|not provided [RCV000970848] |
Chr7:2590037 [GRCh38] Chr7:2629671 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1533C>T (p.Arg511=) |
single nucleotide variant |
IQCE-related disorder [RCV003948301]|not provided [RCV000880435] |
Chr7:2598557 [GRCh38] Chr7:2638191 [GRCh37] Chr7:7p22.3 |
benign|likely benign |
NM_152558.5(IQCE):c.1977T>C (p.Ser659=) |
single nucleotide variant |
not provided [RCV000969024] |
Chr7:2610051 [GRCh38] Chr7:2649685 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.301C>A (p.His101Asn) |
single nucleotide variant |
not provided [RCV000946994] |
Chr7:2572233 [GRCh38] Chr7:2611867 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1365A>G (p.Thr455=) |
single nucleotide variant |
not provided [RCV000883693] |
Chr7:2594901 [GRCh38] Chr7:2634535 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.816C>T (p.Thr272=) |
single nucleotide variant |
not provided [RCV000886117] |
Chr7:2584277 [GRCh38] Chr7:2623911 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1743+8C>T |
single nucleotide variant |
not provided [RCV000896920] |
Chr7:2604999 [GRCh38] Chr7:2644633 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.831G>A (p.Leu277=) |
single nucleotide variant |
not provided [RCV000949930] |
Chr7:2586214 [GRCh38] Chr7:2625848 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1531C>T (p.Arg511Cys) |
single nucleotide variant |
not provided [RCV000963881] |
Chr7:2598555 [GRCh38] Chr7:2638189 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.324C>T (p.Gly108=) |
single nucleotide variant |
not provided [RCV000965030] |
Chr7:2572256 [GRCh38] Chr7:2611890 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1111T>C (p.Cys371Arg) |
single nucleotide variant |
IQCE-related disorder [RCV003916250]|not provided [RCV000968107] |
Chr7:2589973 [GRCh38] Chr7:2629607 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.342G>C (p.Leu114=) |
single nucleotide variant |
not provided [RCV000894437] |
Chr7:2572274 [GRCh38] Chr7:2611908 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1935C>T (p.Asp645=) |
single nucleotide variant |
not provided [RCV000891600] |
Chr7:2607193 [GRCh38] Chr7:2646827 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.212G>A (p.Arg71Gln) |
single nucleotide variant |
Polydactyly, postaxial, type a7 [RCV001730738]|not provided [RCV000845052] |
Chr7:2571607 [GRCh38] Chr7:2611241 [GRCh37] Chr7:7p22.3 |
benign|not provided |
NM_152558.5(IQCE):c.572_579+1del |
deletion |
not provided [RCV001091302] |
Chr7:2578348..2578356 [GRCh38] Chr7:2617982..2617990 [GRCh37] Chr7:7p22.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1 |
copy number loss |
not provided [RCV000849273] |
Chr7:36616..4298168 [GRCh37] Chr7:7p22.3-22.2 |
pathogenic |
GRCh37/hg19 7p22.3(chr7:2592664-2679857)x1 |
copy number loss |
not provided [RCV001005893] |
Chr7:2592664..2679857 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3-22.2(chr7:2592664-2972798)x3 |
copy number gain |
not provided [RCV000847579] |
Chr7:2592664..2972798 [GRCh37] Chr7:7p22.3-22.2 |
uncertain significance |
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 |
copy number gain |
not provided [RCV001005891] |
Chr7:1648373..10627513 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 |
copy number gain |
not provided [RCV000848100] |
Chr7:43376..19520619 [GRCh37] Chr7:7p22.3-21.1 |
pathogenic |
NM_152558.5(IQCE):c.1505C>G (p.Ser502Cys) |
single nucleotide variant |
not specified [RCV004295616] |
Chr7:2598529 [GRCh38] Chr7:2638163 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1969+89T>G |
single nucleotide variant |
IQCE-related disorder [RCV003975890]|not provided [RCV001670135] |
Chr7:2607316 [GRCh38] Chr7:2646950 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.895_904del (p.Val301fs) |
deletion |
Brachydactyly [RCV000852372]|IQCE-related disorder [RCV004756039]|Polydactyly, postaxial, type A1 [RCV000852374]|Polydactyly, postaxial, type a7 [RCV001255654]|not provided [RCV001726330] |
Chr7:2586273..2586282 [GRCh38] Chr7:2625907..2625916 [GRCh37] Chr7:7p22.3 |
pathogenic|likely pathogenic |
NM_152558.5(IQCE):c.1350_1353del |
microsatellite |
IQCE-related disorder [RCV003413586]|Polydactyly, postaxial, type A1 [RCV000852375]|Polydactyly, postaxial, type a7 [RCV001255655] |
Chr7:2594884..2594887 [GRCh38] Chr7:2634518..2634521 [GRCh37] Chr7:7p22.3 |
pathogenic|likely pathogenic |
NM_152558.5(IQCE):c.1913C>G (p.Ser638Trp) |
single nucleotide variant |
IQCE-related disorder [RCV003955870]|not provided [RCV000883822] |
Chr7:2607171 [GRCh38] Chr7:2646805 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.786C>G (p.Leu262=) |
single nucleotide variant |
not provided [RCV000890708] |
Chr7:2584247 [GRCh38] Chr7:2623881 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1609-5dup |
duplication |
Polydactyly, postaxial, type a7 [RCV001731104] |
Chr7:2601425..2601426 [GRCh38] Chr7:2641059..2641060 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1725G>T (p.Val575=) |
single nucleotide variant |
IQCE-related disorder [RCV003984091]|Polydactyly, postaxial, type a7 [RCV001731106] |
Chr7:2604973 [GRCh38] Chr7:2644607 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1760G>A (p.Arg587His) |
single nucleotide variant |
IQCE-related disorder [RCV003976137]|Polydactyly, postaxial, type a7 [RCV001731107] |
Chr7:2605892 [GRCh38] Chr7:2645526 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1756C>T (p.Pro586Ser) |
single nucleotide variant |
IQCE-related disorder [RCV003973047]|not provided [RCV001091303] |
Chr7:2605888 [GRCh38] Chr7:2645522 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5:c.1350_1353del |
deletion |
POLYDACTYLY, POSTAXIAL, TYPE A7 [RCV001255655] |
Chr7:7p22.3 |
pathogenic |
NM_152558.5(IQCE):c.1843C>T (p.His615Tyr) |
single nucleotide variant |
Polydactyly, postaxial, type a7 [RCV001254608] |
Chr7:2605975 [GRCh38] Chr7:2645609 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3(chr7:2155103-2629996)x3 |
copy number gain |
not provided [RCV001259993] |
Chr7:2155103..2629996 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3(chr7:2082065-2669221)x3 |
copy number gain |
not provided [RCV001259998] |
Chr7:2082065..2669221 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1349+1G>A |
single nucleotide variant |
Polydactyly, postaxial, type a7 [RCV001337015] |
Chr7:2593127 [GRCh38] Chr7:2632761 [GRCh37] Chr7:7p22.3 |
pathogenic |
NM_152558.5(IQCE):c.1969+60_1969+61del |
deletion |
Polydactyly, postaxial, type a7 [RCV001337016] |
Chr7:2607286..2607287 [GRCh38] Chr7:2646920..2646921 [GRCh37] Chr7:7p22.3 |
pathogenic |
NM_152558.5(IQCE):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Polydactyly, postaxial, type a7 [RCV001331779] |
Chr7:2559184 [GRCh38] Chr7:2598818 [GRCh37] Chr7:7p22.3 |
likely pathogenic |
NC_000007.13:g.(?_2552269)_(2998160_?)del |
deletion |
Severe combined immunodeficiency due to CARD11 deficiency [RCV001387909] |
Chr7:2552269..2998160 [GRCh37] Chr7:7p22.3-22.2 |
pathogenic |
NM_152558.5(IQCE):c.405T>C (p.Pro135=) |
single nucleotide variant |
IQCE-related disorder [RCV003976133]|Polydactyly, postaxial, type a7 [RCV001731100] |
Chr7:2573428 [GRCh38] Chr7:2613062 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1786A>G (p.Thr596Ala) |
single nucleotide variant |
IQCE-related disorder [RCV003976138]|Polydactyly, postaxial, type a7 [RCV001731108] |
Chr7:2605918 [GRCh38] Chr7:2645552 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.312T>C (p.Thr104=) |
single nucleotide variant |
IQCE-related disorder [RCV003984090]|Polydactyly, postaxial, type a7 [RCV001731098] |
Chr7:2572244 [GRCh38] Chr7:2611878 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.395-10G>C |
single nucleotide variant |
IQCE-related disorder [RCV003976132]|Polydactyly, postaxial, type a7 [RCV001731099] |
Chr7:2573408 [GRCh38] Chr7:2613042 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.774+8G>A |
single nucleotide variant |
IQCE-related disorder [RCV003976134]|Polydactyly, postaxial, type a7 [RCV001731102] |
Chr7:2583717 [GRCh38] Chr7:2623351 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1970-5T>C |
single nucleotide variant |
IQCE-related disorder [RCV003984093]|Polydactyly, postaxial, type a7 [RCV001731110] |
Chr7:2610039 [GRCh38] Chr7:2649673 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.825-4C>T |
single nucleotide variant |
IQCE-related disorder [RCV003976135]|Polydactyly, postaxial, type a7 [RCV001731103] |
Chr7:2586204 [GRCh38] Chr7:2625838 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.2069C>T (p.Thr690Met) |
single nucleotide variant |
IQCE-related disorder [RCV003976114]|Polydactyly, postaxial, type a7 [RCV001731015] |
Chr7:2610143 [GRCh38] Chr7:2649777 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.*23C>T |
single nucleotide variant |
Polydactyly, postaxial, type a7 [RCV001731016] |
Chr7:2610185 [GRCh38] Chr7:2649819 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1904G>A (p.Arg635Lys) |
single nucleotide variant |
IQCE-related disorder [RCV003984092]|Polydactyly, postaxial, type a7 [RCV001731109] |
Chr7:2607162 [GRCh38] Chr7:2646796 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.465+11G>A |
single nucleotide variant |
Polydactyly, postaxial, type a7 [RCV001731101] |
Chr7:2573499 [GRCh38] Chr7:2613133 [GRCh37] Chr7:7p22.3 |
benign |
Single allele |
complex |
Ring chromosome 7 [RCV002280646] |
Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3(chr7:2319788-2700303) |
copy number gain |
not specified [RCV002053664] |
Chr7:2319788..2700303 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NC_000007.13:g.(?_2577703)_(2972240_?)dup |
duplication |
Severe combined immunodeficiency due to CARD11 deficiency [RCV003122869] |
Chr7:2577703..2972240 [GRCh37] Chr7:7p22.3-22.2 |
uncertain significance |
GRCh37/hg19 7p22.3(chr7:2606751-2641098) |
copy number loss |
Polydactyly, postaxial, type a7 [RCV003236741] |
Chr7:2606751..2641098 [GRCh37] Chr7:7p22.3 |
likely pathogenic |
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 |
copy number gain |
See cases [RCV002287567] |
Chr7:43360..19485604 [GRCh37] Chr7:7p22.3-21.1 |
pathogenic |
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 |
copy number gain |
See cases [RCV002292426] |
Chr7:43360..9649794 [GRCh37] Chr7:7p22.3-21.3 |
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_152558.5(IQCE):c.64T>C (p.Phe22Leu) |
single nucleotide variant |
not specified [RCV004241851] |
Chr7:2567143 [GRCh38] Chr7:2606777 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1978C>T (p.Pro660Ser) |
single nucleotide variant |
not specified [RCV004217180] |
Chr7:2610052 [GRCh38] Chr7:2649686 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1562C>T (p.Ala521Val) |
single nucleotide variant |
not specified [RCV004200886] |
Chr7:2598586 [GRCh38] Chr7:2638220 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.125C>T (p.Ser42Leu) |
single nucleotide variant |
not specified [RCV004191407] |
Chr7:2568994 [GRCh38] Chr7:2608628 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1307G>C (p.Arg436Thr) |
single nucleotide variant |
not specified [RCV004170117] |
Chr7:2593084 [GRCh38] Chr7:2632718 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.731A>G (p.Asn244Ser) |
single nucleotide variant |
not specified [RCV004128454] |
Chr7:2583666 [GRCh38] Chr7:2623300 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1595T>G (p.Val532Gly) |
single nucleotide variant |
not specified [RCV004158244] |
Chr7:2598619 [GRCh38] Chr7:2638253 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.818G>C (p.Gly273Ala) |
single nucleotide variant |
not specified [RCV004118670] |
Chr7:2584279 [GRCh38] Chr7:2623913 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.322G>A (p.Gly108Ser) |
single nucleotide variant |
not specified [RCV004211480] |
Chr7:2572254 [GRCh38] Chr7:2611888 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1605C>A (p.His535Gln) |
single nucleotide variant |
not specified [RCV004121373] |
Chr7:2598629 [GRCh38] Chr7:2638263 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1523C>T (p.Pro508Leu) |
single nucleotide variant |
not specified [RCV004108932] |
Chr7:2598547 [GRCh38] Chr7:2638181 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.808G>A (p.Glu270Lys) |
single nucleotide variant |
not specified [RCV004114821] |
Chr7:2584269 [GRCh38] Chr7:2623903 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1655C>G (p.Ala552Gly) |
single nucleotide variant |
not specified [RCV004140587] |
Chr7:2604903 [GRCh38] Chr7:2644537 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.938A>G (p.Glu313Gly) |
single nucleotide variant |
not specified [RCV004167264] |
Chr7:2586321 [GRCh38] Chr7:2625955 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1013G>A (p.Arg338Gln) |
single nucleotide variant |
not specified [RCV004150371] |
Chr7:2587846 [GRCh38] Chr7:2627480 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.356G>A (p.Arg119Lys) |
single nucleotide variant |
IQCE-related disorder [RCV003963756]|not specified [RCV004191938] |
Chr7:2572288 [GRCh38] Chr7:2611922 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1798G>C (p.Val600Leu) |
single nucleotide variant |
not specified [RCV004108805] |
Chr7:2605930 [GRCh38] Chr7:2645564 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1384G>A (p.Glu462Lys) |
single nucleotide variant |
not specified [RCV004170662] |
Chr7:2594920 [GRCh38] Chr7:2634554 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.325G>A (p.Gly109Ser) |
single nucleotide variant |
not specified [RCV004142448] |
Chr7:2572257 [GRCh38] Chr7:2611891 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.578G>A (p.Arg193His) |
single nucleotide variant |
not specified [RCV004231715] |
Chr7:2578354 [GRCh38] Chr7:2617988 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.835G>A (p.Glu279Lys) |
single nucleotide variant |
not specified [RCV004111547] |
Chr7:2586218 [GRCh38] Chr7:2625852 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1888A>G (p.Thr630Ala) |
single nucleotide variant |
not specified [RCV004227550] |
Chr7:2607146 [GRCh38] Chr7:2646780 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1479C>G (p.His493Gln) |
single nucleotide variant |
not specified [RCV004229216] |
Chr7:2598503 [GRCh38] Chr7:2638137 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.506C>T (p.Thr169Met) |
single nucleotide variant |
not specified [RCV004241828] |
Chr7:2578282 [GRCh38] Chr7:2617916 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1239G>C (p.Gln413His) |
single nucleotide variant |
not specified [RCV004150442] |
Chr7:2590101 [GRCh38] Chr7:2629735 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.699C>G (p.Ile233Met) |
single nucleotide variant |
not specified [RCV004139954] |
Chr7:2582648 [GRCh38] Chr7:2622282 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.914C>T (p.Thr305Met) |
single nucleotide variant |
not specified [RCV004171825] |
Chr7:2586297 [GRCh38] Chr7:2625931 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1853G>A (p.Arg618Gln) |
single nucleotide variant |
not specified [RCV004105409] |
Chr7:2605985 [GRCh38] Chr7:2645619 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1024C>T (p.Arg342Cys) |
single nucleotide variant |
not specified [RCV004275253] |
Chr7:2587857 [GRCh38] Chr7:2627491 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1999G>A (p.Ala667Thr) |
single nucleotide variant |
not specified [RCV004281202] |
Chr7:2610073 [GRCh38] Chr7:2649707 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.316G>A (p.Val106Ile) |
single nucleotide variant |
not specified [RCV004255249] |
Chr7:2572248 [GRCh38] Chr7:2611882 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.518G>T (p.Arg173Leu) |
single nucleotide variant |
not specified [RCV004271399] |
Chr7:2578294 [GRCh38] Chr7:2617928 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1156C>T (p.Arg386Cys) |
single nucleotide variant |
not specified [RCV004258951] |
Chr7:2590018 [GRCh38] Chr7:2629652 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1723G>A (p.Val575Met) |
single nucleotide variant |
not specified [RCV004334001] |
Chr7:2604971 [GRCh38] Chr7:2644605 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.724A>G (p.Thr242Ala) |
single nucleotide variant |
not specified [RCV004272704] |
Chr7:2583659 [GRCh38] Chr7:2623293 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.926A>T (p.Gln309Leu) |
single nucleotide variant |
not specified [RCV004290226] |
Chr7:2586309 [GRCh38] Chr7:2625943 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1198C>T (p.Leu400=) |
single nucleotide variant |
IQCE-related disorder [RCV003919209]|not provided [RCV003423520] |
Chr7:2590060 [GRCh38] Chr7:2629694 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1025G>T (p.Arg342Leu) |
single nucleotide variant |
not specified [RCV004340723] |
Chr7:2587858 [GRCh38] Chr7:2627492 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1065C>G (p.Ser355Arg) |
single nucleotide variant |
not specified [RCV004350623] |
Chr7:2589927 [GRCh38] Chr7:2629561 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1697A>G (p.Lys566Arg) |
single nucleotide variant |
not specified [RCV004360067] |
Chr7:2604945 [GRCh38] Chr7:2644579 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3(chr7:2472275-2629740)x1 |
copy number loss |
not provided [RCV003457530] |
Chr7:2472275..2629740 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.574A>G (p.Ser192Gly) |
single nucleotide variant |
not specified [RCV004335725] |
Chr7:2578350 [GRCh38] Chr7:2617984 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3-22.2(chr7:2380155-2885274)x3 |
copy number gain |
not provided [RCV003484672] |
Chr7:2380155..2885274 [GRCh37] Chr7:7p22.3-22.2 |
uncertain significance |
GRCh37/hg19 7p22.3(chr7:2163436-2610093)x3 |
copy number gain |
not provided [RCV003484669] |
Chr7:2163436..2610093 [GRCh37] Chr7:7p22.3 |
uncertain significance |
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 |
copy number gain |
not provided [RCV003484665] |
Chr7:43361..8890475 [GRCh37] Chr7:7p22.3-21.3 |
pathogenic |
GRCh37/hg19 7p22.3-22.2(chr7:2409035-2850679)x3 |
copy number gain |
not provided [RCV003484673] |
Chr7:2409035..2850679 [GRCh37] Chr7:7p22.3-22.2 |
uncertain significance |
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 |
copy number gain |
not provided [RCV003484666] |
Chr7:43361..5965440 [GRCh37] Chr7:7p22.3-22.1 |
pathogenic |
NM_152558.5(IQCE):c.249C>T (p.Thr83=) |
single nucleotide variant |
not provided [RCV003433722] |
Chr7:2571644 [GRCh38] Chr7:2611278 [GRCh37] Chr7:7p22.3 |
likely benign |
GRCh37/hg19 7p22.3(chr7:2469259-2610093)x1 |
copy number loss |
not provided [RCV003482947] |
Chr7:2469259..2610093 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1540del (p.Cys514fs) |
deletion |
Polydactyly, postaxial, type a7 [RCV004789735] |
Chr7:2598564 [GRCh38] Chr7:2638198 [GRCh37] Chr7:7p22.3 |
pathogenic |
NM_152558.5(IQCE):c.849C>T (p.Gly283=) |
single nucleotide variant |
not provided [RCV003457496] |
Chr7:2586232 [GRCh38] Chr7:2625866 [GRCh37] Chr7:7p22.3 |
likely benign |
GRCh37/hg19 7p22.3-22.2(chr7:2163435-2987198)x3 |
copy number gain |
not specified [RCV003986709] |
Chr7:2163435..2987198 [GRCh37] Chr7:7p22.3-22.2 |
uncertain significance |
NM_152558.5(IQCE):c.702C>G (p.Ser234Arg) |
single nucleotide variant |
IQCE-related disorder [RCV003939545] |
Chr7:2583637 [GRCh38] Chr7:2623271 [GRCh37] Chr7:7p22.3 |
likely benign |
GRCh37/hg19 7p22.3-22.2(chr7:2088540-3127784)x3 |
copy number gain |
not specified [RCV003986692] |
Chr7:2088540..3127784 [GRCh37] Chr7:7p22.3-22.2 |
uncertain significance |
NM_152558.5(IQCE):c.624C>T (p.Ala208=) |
single nucleotide variant |
IQCE-related disorder [RCV003951945] |
Chr7:2578520 [GRCh38] Chr7:2618154 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1641G>T (p.Val547=) |
single nucleotide variant |
IQCE-related disorder [RCV003942094] |
Chr7:2604889 [GRCh38] Chr7:2644523 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1969+146G>A |
single nucleotide variant |
IQCE-related disorder [RCV003974505] |
Chr7:2607373 [GRCh38] Chr7:2647007 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.-2C>T |
single nucleotide variant |
IQCE-related disorder [RCV003981392] |
Chr7:2559180 [GRCh38] Chr7:2598814 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1233G>A (p.Leu411=) |
single nucleotide variant |
IQCE-related disorder [RCV003979058] |
Chr7:2590095 [GRCh38] Chr7:2629729 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.865A>T (p.Lys289Ter) |
single nucleotide variant |
IQCE-related disorder [RCV003893687] |
Chr7:2586248 [GRCh38] Chr7:2625882 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.2057C>T (p.Pro686Leu) |
single nucleotide variant |
IQCE-related disorder [RCV003917000] |
Chr7:2610131 [GRCh38] Chr7:2649765 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1635G>A (p.Ala545=) |
single nucleotide variant |
IQCE-related disorder [RCV003909771] |
Chr7:2604883 [GRCh38] Chr7:2644517 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.690C>T (p.Asp230=) |
single nucleotide variant |
IQCE-related disorder [RCV003914711] |
Chr7:2582639 [GRCh38] Chr7:2622273 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1022G>A (p.Arg341Lys) |
single nucleotide variant |
IQCE-related disorder [RCV003916874] |
Chr7:2587855 [GRCh38] Chr7:2627489 [GRCh37] Chr7:7p22.3 |
benign |
NM_152558.5(IQCE):c.1425G>A (p.Pro475=) |
single nucleotide variant |
IQCE-related disorder [RCV003904253] |
Chr7:2594961 [GRCh38] Chr7:2634595 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1179C>G (p.Leu393=) |
single nucleotide variant |
IQCE-related disorder [RCV003914279] |
Chr7:2590041 [GRCh38] Chr7:2629675 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1148G>T (p.Arg383Leu) |
single nucleotide variant |
IQCE-related disorder [RCV003914381]|not provided [RCV004810593] |
Chr7:2590010 [GRCh38] Chr7:2629644 [GRCh37] Chr7:7p22.3 |
benign|likely benign |
NM_152558.5(IQCE):c.1180C>T (p.Arg394Ter) |
single nucleotide variant |
IQCE-related disorder [RCV004756691] |
Chr7:2590042 [GRCh38] Chr7:2629676 [GRCh37] Chr7:7p22.3 |
likely pathogenic |
NM_152558.5(IQCE):c.1616dup (p.Ala540fs) |
duplication |
Polydactyly, postaxial, type a7 [RCV003990936] |
Chr7:2601440..2601441 [GRCh38] Chr7:2641074..2641075 [GRCh37] Chr7:7p22.3 |
likely pathogenic |
NM_152558.5(IQCE):c.1187C>T (p.Ala396Val) |
single nucleotide variant |
not specified [RCV004400831] |
Chr7:2590049 [GRCh38] Chr7:2629683 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1210C>T (p.Arg404Trp) |
single nucleotide variant |
not specified [RCV004400832] |
Chr7:2590072 [GRCh38] Chr7:2629706 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1354G>C (p.Glu452Gln) |
single nucleotide variant |
not specified [RCV004400833] |
Chr7:2594890 [GRCh38] Chr7:2634524 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.272A>T (p.Gln91Leu) |
single nucleotide variant |
not specified [RCV004400847] |
Chr7:2572204 [GRCh38] Chr7:2611838 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.388A>G (p.Ser130Gly) |
single nucleotide variant |
not specified [RCV004400848] |
Chr7:2572320 [GRCh38] Chr7:2611954 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.404C>A (p.Pro135His) |
single nucleotide variant |
not specified [RCV004400849] |
Chr7:2573427 [GRCh38] Chr7:2613061 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.432A>C (p.Glu144Asp) |
single nucleotide variant |
not specified [RCV004400850] |
Chr7:2573455 [GRCh38] Chr7:2613089 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.896G>A (p.Arg299Gln) |
single nucleotide variant |
not specified [RCV004400851] |
Chr7:2586279 [GRCh38] Chr7:2625913 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1604A>C (p.His535Pro) |
single nucleotide variant |
not specified [RCV004400834] |
Chr7:2598628 [GRCh38] Chr7:2638262 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1676G>A (p.Arg559Gln) |
single nucleotide variant |
not specified [RCV004400836] |
Chr7:2604924 [GRCh38] Chr7:2644558 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1741C>G (p.Gln581Glu) |
single nucleotide variant |
not specified [RCV004400837] |
Chr7:2604989 [GRCh38] Chr7:2644623 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1759C>T (p.Arg587Cys) |
single nucleotide variant |
not specified [RCV004400838] |
Chr7:2605891 [GRCh38] Chr7:2645525 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1778C>T (p.Ala593Val) |
single nucleotide variant |
not specified [RCV004400839] |
Chr7:2605910 [GRCh38] Chr7:2645544 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1819A>G (p.Ile607Val) |
single nucleotide variant |
not specified [RCV004400840] |
Chr7:2605951 [GRCh38] Chr7:2645585 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1895C>A (p.Ala632Asp) |
single nucleotide variant |
not specified [RCV004400842] |
Chr7:2607153 [GRCh38] Chr7:2646787 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.2014G>C (p.Asp672His) |
single nucleotide variant |
not specified [RCV004400844] |
Chr7:2610088 [GRCh38] Chr7:2649722 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.2020G>A (p.Val674Ile) |
single nucleotide variant |
not specified [RCV004400845] |
Chr7:2610094 [GRCh38] Chr7:2649728 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.2029G>A (p.Asp677Asn) |
single nucleotide variant |
not specified [RCV004400846] |
Chr7:2610103 [GRCh38] Chr7:2649737 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1832C>T (p.Ala611Val) |
single nucleotide variant |
not specified [RCV004400841] |
Chr7:2605964 [GRCh38] Chr7:2645598 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1972C>T (p.Pro658Ser) |
single nucleotide variant |
not specified [RCV004400843] |
Chr7:2610046 [GRCh38] Chr7:2649680 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1171G>A (p.Glu391Lys) |
single nucleotide variant |
not specified [RCV004400830] |
Chr7:2590033 [GRCh38] Chr7:2629667 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1144C>A (p.Pro382Thr) |
single nucleotide variant |
not specified [RCV004630962] |
Chr7:2590006 [GRCh38] Chr7:2629640 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.365G>A (p.Arg122Lys) |
single nucleotide variant |
not specified [RCV004630963] |
Chr7:2572297 [GRCh38] Chr7:2611931 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.745C>T (p.Arg249Trp) |
single nucleotide variant |
not specified [RCV004630964] |
Chr7:2583680 [GRCh38] Chr7:2623314 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.380G>A (p.Arg127His) |
single nucleotide variant |
not specified [RCV004630965] |
Chr7:2572312 [GRCh38] Chr7:2611946 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.336C>G (p.Asp112Glu) |
single nucleotide variant |
not specified [RCV004630966] |
Chr7:2572268 [GRCh38] Chr7:2611902 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.227C>T (p.Pro76Leu) |
single nucleotide variant |
not specified [RCV004630967] |
Chr7:2571622 [GRCh38] Chr7:2611256 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.640G>C (p.Gly214Arg) |
single nucleotide variant |
not specified [RCV004630969] |
Chr7:2582589 [GRCh38] Chr7:2622223 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.821A>G (p.Lys274Arg) |
single nucleotide variant |
not specified [RCV004630970] |
Chr7:2584282 [GRCh38] Chr7:2623916 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NC_000007.13:g.(?_2559496)_(2998140_?)del |
deletion |
Severe combined immunodeficiency due to CARD11 deficiency [RCV004583569] |
Chr7:2559496..2998140 [GRCh37] Chr7:7p22.3-22.2 |
pathogenic |
NM_152558.5(IQCE):c.1609-6_1609-5dup |
duplication |
IQCE-related disorder [RCV004756809] |
Chr7:2601425..2601426 [GRCh38] Chr7:2641059..2641060 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.2042del (p.Asp681fs) |
deletion |
not provided [RCV004729495] |
Chr7:2610116 [GRCh38] Chr7:2649750 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.900_909del (p.Val301fs) |
deletion |
not provided [RCV004762348] |
|
uncertain significance |
NM_152558.5(IQCE):c.825-8T>G |
single nucleotide variant |
not provided [RCV004729496] |
Chr7:2586200 [GRCh38] Chr7:2625834 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1493G>A (p.Trp498Ter) |
single nucleotide variant |
Polydactyly, postaxial, type a7 [RCV004789742] |
Chr7:2598517 [GRCh38] Chr7:2638151 [GRCh37] Chr7:7p22.3 |
pathogenic |
NM_152558.5(IQCE):c.1613A>G (p.Lys538Arg) |
single nucleotide variant |
not provided [RCV004773751] |
Chr7:2601445 [GRCh38] Chr7:2641079 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.2080C>G (p.Pro694Ala) |
single nucleotide variant |
not specified [RCV004932058] |
Chr7:2610154 [GRCh38] Chr7:2649788 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.802A>G (p.Ser268Gly) |
single nucleotide variant |
not specified [RCV004932059] |
Chr7:2584263 [GRCh38] Chr7:2623897 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1099C>T (p.His367Tyr) |
single nucleotide variant |
not specified [RCV004932043] |
Chr7:2589961 [GRCh38] Chr7:2629595 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1496C>G (p.Pro499Arg) |
single nucleotide variant |
not specified [RCV004932044] |
Chr7:2598520 [GRCh38] Chr7:2638154 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1135C>T (p.His379Tyr) |
single nucleotide variant |
not specified [RCV004932053] |
Chr7:2589997 [GRCh38] Chr7:2629631 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1886C>T (p.Thr629Ile) |
single nucleotide variant |
not specified [RCV004932054] |
Chr7:2607144 [GRCh38] Chr7:2646778 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1429G>A (p.Val477Ile) |
single nucleotide variant |
not specified [RCV004932055] |
Chr7:2594965 [GRCh38] Chr7:2634599 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.472C>T (p.His158Tyr) |
single nucleotide variant |
not specified [RCV004932056] |
Chr7:2578248 [GRCh38] Chr7:2617882 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1852C>T (p.Arg618Trp) |
single nucleotide variant |
not specified [RCV004932040] |
Chr7:2605984 [GRCh38] Chr7:2645618 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.715G>A (p.Asp239Asn) |
single nucleotide variant |
not specified [RCV004932042] |
Chr7:2583650 [GRCh38] Chr7:2623284 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.1570A>G (p.Arg524Gly) |
single nucleotide variant |
not specified [RCV004932045] |
Chr7:2598594 [GRCh38] Chr7:2638228 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.152C>T (p.Pro51Leu) |
single nucleotide variant |
not specified [RCV004932046] |
Chr7:2571547 [GRCh38] Chr7:2611181 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.146C>T (p.Ser49Phe) |
single nucleotide variant |
not specified [RCV004932047] |
Chr7:2571541 [GRCh38] Chr7:2611175 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.205G>A (p.Gly69Ser) |
single nucleotide variant |
not specified [RCV004932048] |
Chr7:2571600 [GRCh38] Chr7:2611234 [GRCh37] Chr7:7p22.3 |
likely benign |
NM_152558.5(IQCE):c.1960G>A (p.Ala654Thr) |
single nucleotide variant |
not specified [RCV004932049] |
Chr7:2607218 [GRCh38] Chr7:2646852 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.520C>G (p.Leu174Val) |
single nucleotide variant |
not specified [RCV004932052] |
Chr7:2578296 [GRCh38] Chr7:2617930 [GRCh37] Chr7:7p22.3 |
uncertain significance |
NM_152558.5(IQCE):c.893C>T (p.Ser298Phe) |
single nucleotide variant |
not specified [RCV004932057] |
Chr7:2586276 [GRCh38] Chr7:2625910 [GRCh37] Chr7:7p22.3 |
uncertain significance |