GRCh38/hg38 17p13.3(chr17:198748-3102332)x1 |
copy number loss |
See cases [RCV000050936] |
Chr17:198748..3102332 [GRCh38] Chr17:50690..3005626 [GRCh37] Chr17:48539..2952376 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:644280-2193615)x3 |
copy number gain |
See cases [RCV000051125] |
Chr17:644280..2193615 [GRCh38] Chr17:547520..2096909 [GRCh37] Chr17:494270..2043659 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:198748-2261786)x1 |
copy number loss |
See cases [RCV000051148] |
Chr17:198748..2261786 [GRCh38] Chr17:50690..2165080 [GRCh37] Chr17:48539..2111830 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:847955-1589181)x3 |
copy number gain |
See cases [RCV000051045] |
Chr17:847955..1589181 [GRCh38] Chr17:751195..1492475 [GRCh37] Chr17:697945..1439225 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:226272-1065849)x1 |
copy number loss |
See cases [RCV000052025] |
Chr17:226272..1065849 [GRCh38] Chr17:396627..969089 [GRCh37] Chr17:76063..915839 [NCBI36] Chr17:17p13.3 |
uncertain significance |
GRCh38/hg38 17p13.3(chr17:436763-2527511)x3 |
copy number gain |
See cases [RCV000052432] |
Chr17:436763..2527511 [GRCh38] Chr17:396627..2430805 [GRCh37] Chr17:286785..2377555 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:445331-2385512)x3 |
copy number gain |
See cases [RCV000052434] |
Chr17:445331..2385512 [GRCh38] Chr17:396627..2288806 [GRCh37] Chr17:295350..2235556 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:234496-2385512)x3 |
copy number gain |
See cases [RCV000052429] |
Chr17:234496..2385512 [GRCh38] Chr17:396627..2288806 [GRCh37] Chr17:84287..2235556 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 |
copy number loss |
See cases [RCV000053384] |
Chr17:193307..5652222 [GRCh38] Chr17:45835..5555542 [GRCh37] Chr17:43098..5496266 [NCBI36] Chr17:17p13.3-13.2 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:193307-1376276)x1 |
copy number loss |
See cases [RCV000053385] |
Chr17:193307..1376276 [GRCh38] Chr17:45835..1279570 [GRCh37] Chr17:43098..1226320 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3-13.2(chr17:198748-3436345)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053386]|See cases [RCV000053386] |
Chr17:198748..3436345 [GRCh38] Chr17:50690..3339639 [GRCh37] Chr17:48539..3286389 [NCBI36] Chr17:17p13.3-13.2 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:855404-1345517)x1 |
copy number loss |
See cases [RCV000053402] |
Chr17:855404..1345517 [GRCh38] Chr17:758644..1248811 [GRCh37] Chr17:705394..1195561 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:279611-848014)x3 |
copy number gain |
See cases [RCV000053969] |
Chr17:279611..848014 [GRCh38] Chr17:396627..751254 [GRCh37] Chr17:129402..698004 [NCBI36] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:789447-969524)x3 |
copy number gain |
See cases [RCV000184083] |
Chr17:789447..969524 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh38/hg38 17p13.3(chr17:198748-1920952)x1 |
copy number loss |
See cases [RCV000133787] |
Chr17:198748..1920952 [GRCh38] Chr17:50690..1824246 [GRCh37] Chr17:48539..1770996 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 |
copy number loss |
See cases [RCV000134135] |
Chr17:162088..6959050 [GRCh38] Chr17:45835..6862369 [GRCh37] Chr17:11879..6803093 [NCBI36] Chr17:17p13.3-13.1 |
pathogenic |
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 |
copy number gain |
See cases [RCV000134970] |
Chr17:198748..7491129 [GRCh38] Chr17:50690..7394448 [GRCh37] Chr17:48539..7335172 [NCBI36] Chr17:17p13.3-13.1 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:198748-2685361)x1 |
copy number loss |
See cases [RCV000134971] |
Chr17:198748..2685361 [GRCh38] Chr17:50690..2588655 [GRCh37] Chr17:48539..2535405 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 |
copy number loss |
See cases [RCV000135857] |
Chr17:226472..3655099 [GRCh38] Chr17:396627..3558393 [GRCh37] Chr17:76263..3505142 [NCBI36] Chr17:17p13.3-13.2 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:847955-1641601)x3 |
copy number gain |
See cases [RCV000135574] |
Chr17:847955..1641601 [GRCh38] Chr17:751195..1544895 [GRCh37] Chr17:697945..1491645 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:759449-999134)x3 |
copy number gain |
See cases [RCV000136986] |
Chr17:759449..999134 [GRCh38] Chr17:662689..902374 [GRCh37] Chr17:609439..849124 [NCBI36] Chr17:17p13.3 |
uncertain significance |
GRCh38/hg38 17p13.3(chr17:445331-823474)x3 |
copy number gain |
See cases [RCV000136769] |
Chr17:445331..823474 [GRCh38] Chr17:396627..726714 [GRCh37] Chr17:295350..673464 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:333871-880361)x3 |
copy number gain |
See cases [RCV000136770] |
Chr17:333871..880361 [GRCh38] Chr17:396627..783601 [GRCh37] Chr17:183662..730351 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:162016-1682817)x3 |
copy number gain |
See cases [RCV000138202] |
Chr17:162016..1682817 [GRCh38] Chr17:45835..1586111 [GRCh37] Chr17:11807..1532861 [NCBI36] Chr17:17p13.3 |
likely pathogenic |
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 |
copy number loss |
See cases [RCV000138214] |
Chr17:162016..7697012 [GRCh38] Chr17:45835..7600330 [GRCh37] Chr17:11807..7541055 [NCBI36] Chr17:17p13.3-13.1 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:162016-1904358)x1 |
copy number loss |
See cases [RCV000137940] |
Chr17:162016..1904358 [GRCh38] Chr17:45835..1807652 [GRCh37] Chr17:11807..1754402 [NCBI36] Chr17:17p13.3 |
likely pathogenic |
GRCh38/hg38 17p13.3(chr17:523549-1311896)x1 |
copy number loss |
See cases [RCV000137793] |
Chr17:523549..1311896 [GRCh38] Chr17:426789..1215190 [GRCh37] Chr17:373539..1161940 [NCBI36] Chr17:17p13.3 |
likely benign |
GRCh38/hg38 17p13.3(chr17:162016-2099130)x1 |
copy number loss |
See cases [RCV000138246] |
Chr17:162016..2099130 [GRCh38] Chr17:45835..2002424 [GRCh37] Chr17:11807..1949174 [NCBI36] Chr17:17p13.3 |
likely pathogenic |
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 |
copy number gain |
See cases [RCV000138531] |
Chr17:162016..12343901 [GRCh38] Chr17:45835..12247218 [GRCh37] Chr17:11807..12187943 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:954820-1009440)x3 |
copy number gain |
See cases [RCV000140210] |
Chr17:954820..1009440 [GRCh38] Chr17:858060..912680 [GRCh37] Chr17:804810..859430 [NCBI36] Chr17:17p13.3 |
likely benign |
GRCh38/hg38 17p13.3(chr17:847955-984405)x3 |
copy number gain |
See cases [RCV000140223] |
Chr17:847955..984405 [GRCh38] Chr17:751195..887645 [GRCh37] Chr17:697945..834395 [NCBI36] Chr17:17p13.3 |
benign |
GRCh38/hg38 17p13.3(chr17:179378-813490)x1 |
copy number loss |
See cases [RCV000141365] |
Chr17:179378..813490 [GRCh38] Chr17:29169..716730 [GRCh37] Chr17:29169..663480 [NCBI36] Chr17:17p13.3 |
uncertain significance |
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 |
copy number loss |
See cases [RCV000141658] |
Chr17:150732..5935377 [GRCh38] Chr17:525..5838697 [GRCh37] Chr17:525..5779421 [NCBI36] Chr17:17p13.3-13.2 |
pathogenic |
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 |
copy number loss |
See cases [RCV000141559] |
Chr17:237248..4735533 [GRCh38] Chr17:396627..4638828 [GRCh37] Chr17:87039..4585577 [NCBI36] Chr17:17p13.3-13.2 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:150732-3242868)x1 |
copy number loss |
See cases [RCV000142323] |
Chr17:150732..3242868 [GRCh38] Chr17:525..3146162 [GRCh37] Chr17:525..3092912 [NCBI36] Chr17:17p13.3 |
pathogenic |
GRCh38/hg38 17p13.3(chr17:186959-969740)x1 |
copy number loss |
See cases [RCV000142477] |
Chr17:186959..969740 [GRCh38] Chr17:45835..872980 [GRCh37] Chr17:36750..819730 [NCBI36] Chr17:17p13.3 |
uncertain significance |
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 |
copy number loss |
See cases [RCV000142440] |
Chr17:198748..4265640 [GRCh38] Chr17:50690..4168935 [GRCh37] Chr17:48539..4115684 [NCBI36] Chr17:17p13.3-13.2 |
pathogenic |
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 |
copy number gain |
See cases [RCV000142236] |
Chr17:150732..14764202 [GRCh38] Chr17:525..14667519 [GRCh37] Chr17:525..14608244 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:48858-920692)x1 |
copy number loss |
See cases [RCV000203416] |
Chr17:48858..920692 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:290384-1172699)x1 |
copy number loss |
See cases [RCV000239804] |
Chr17:290384..1172699 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:48858-902021)x1 |
copy number loss |
See cases [RCV000240511] |
Chr17:48858..902021 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:48858-2940028)x1 |
copy number loss |
See cases [RCV000449220] |
Chr17:48858..2940028 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:874171-2306440)x3 |
copy number gain |
See cases [RCV000447467] |
Chr17:874171..2306440 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:129224-745738)x3 |
copy number gain |
See cases [RCV000446307] |
Chr17:129224..745738 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:525-2518160)x1 |
copy number loss |
See cases [RCV000446045] |
Chr17:525..2518160 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:764104-1193070)x1 |
copy number loss |
See cases [RCV000447047] |
Chr17:764104..1193070 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:751195-872943)x3 |
copy number gain |
See cases [RCV000447444] |
Chr17:751195..872943 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:6160-1114083)x1 |
copy number loss |
See cases [RCV000446658] |
Chr17:6160..1114083 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:525-1874153)x3 |
copy number gain |
See cases [RCV000445687] |
Chr17:525..1874153 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:525-2092064)x1 |
copy number loss |
See cases [RCV000445813] |
Chr17:525..2092064 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:6160-919381)x1 |
copy number loss |
See cases [RCV000447992] |
Chr17:6160..919381 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:124893-735867)x3 |
copy number gain |
See cases [RCV000448997] |
Chr17:124893..735867 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3-13.2(chr17:48858-3379400)x1 |
copy number loss |
See cases [RCV000448506] |
Chr17:48858..3379400 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:525-2891302)x1 |
copy number loss |
See cases [RCV000447687] |
Chr17:525..2891302 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:735198-797669) |
copy number gain |
Abnormal esophagus morphology [RCV000416874] |
Chr17:735198..797669 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:6160-2002365) |
copy number gain |
See cases [RCV000448685] |
Chr17:6160..2002365 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:525-2363548)x1 |
copy number loss |
See cases [RCV000448774] |
Chr17:525..2363548 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:525-2750745)x1 |
copy number loss |
See cases [RCV000510381] |
Chr17:525..2750745 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:800049-2390454)x1 |
copy number loss |
See cases [RCV000510317] |
Chr17:800049..2390454 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 |
copy number loss |
See cases [RCV000511508] |
Chr17:525..3825428 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:525-1968434)x1 |
copy number loss |
See cases [RCV000511558] |
Chr17:525..1968434 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:129114-745738)x3 |
copy number gain |
See cases [RCV000512028] |
Chr17:129114..745738 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:10622-1511353)x1 |
copy number loss |
See cases [RCV000512031] |
Chr17:10622..1511353 [GRCh37] Chr17:17p13.3 |
likely pathogenic |
GRCh37/hg19 17p13.3(chr17:279703-799847)x3 |
copy number gain |
See cases [RCV000511541] |
Chr17:279703..799847 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 |
copy number gain |
See cases [RCV000511786] |
Chr17:525..15027737 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:808735-1850373)x3 |
copy number gain |
See cases [RCV000511145] |
Chr17:808735..1850373 [GRCh37] Chr17:17p13.3 |
likely pathogenic |
GRCh37/hg19 17p13.3(chr17:530146-901949)x1 |
copy number loss |
See cases [RCV000510905] |
Chr17:530146..901949 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.625C>T (p.Arg209Ter) |
single nucleotide variant |
Distal shortening of limbs [RCV000577895]|Robinow syndrome, autosomal recessive 2 [RCV000791460]|not provided [RCV002289843] |
Chr17:822445 [GRCh38] Chr17:725685 [GRCh37] Chr17:17p13.3 |
pathogenic|likely pathogenic |
NM_022463.5(NXN):c.970A>G (p.Asn324Asp) |
single nucleotide variant |
not specified [RCV004322949] |
Chr17:805098 [GRCh38] Chr17:708338 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 |
copy number gain |
See cases [RCV000512413] |
Chr17:525..4151421 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:525-2264023)x1 |
copy number loss |
See cases [RCV000512467] |
Chr17:525..2264023 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:525-880983)x1 |
copy number loss |
not provided [RCV000683864] |
Chr17:525..880983 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:525-981413)x1 |
copy number loss |
not provided [RCV000683865] |
Chr17:525..981413 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 |
copy number gain |
not provided [RCV000683866] |
Chr17:525..11186432 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:141235-1227927)x3 |
copy number gain |
not provided [RCV000683868] |
Chr17:141235..1227927 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:683545-1140912)x1 |
copy number loss |
not provided [RCV000683871] |
Chr17:683545..1140912 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:751918-1061418)x3 |
copy number gain |
not provided [RCV000683872] |
Chr17:751918..1061418 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:458616-764664)x1 |
copy number loss |
not provided [RCV000683870] |
Chr17:458616..764664 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5 |
copy number gain |
Partial agenesis of the corpus callosum [RCV000754117] |
Chr17:1..2538512 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 |
copy number loss |
not provided [RCV000739319] |
Chr17:7214..3871323 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:549583-1328381)x3 |
copy number gain |
not provided [RCV000739335] |
Chr17:549583..1328381 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:719452-724598)x0 |
copy number loss |
not provided [RCV000739338] |
Chr17:719452..724598 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:733738-796091)x3 |
copy number gain |
not provided [RCV000739339] |
Chr17:733738..796091 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:738853-786828)x1 |
copy number loss |
not provided [RCV000739340] |
Chr17:738853..786828 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:787784-970737)x3 |
copy number gain |
not provided [RCV000739341] |
Chr17:787784..970737 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:787784-976148)x3 |
copy number gain |
not provided [RCV000739342] |
Chr17:787784..976148 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:843878-845010)x0 |
copy number loss |
not provided [RCV000739343] |
Chr17:843878..845010 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:877926-953456)x3 |
copy number gain |
not provided [RCV000739344] |
Chr17:877926..953456 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.713+164G>A |
single nucleotide variant |
not provided [RCV001611755] |
Chr17:822193 [GRCh38] Chr17:725433 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:699175-981413)x1 |
copy number loss |
not provided [RCV001006853] |
Chr17:699175..981413 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.479-167A>G |
single nucleotide variant |
not provided [RCV001608775] |
Chr17:823932 [GRCh38] Chr17:727172 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.479-165G>A |
single nucleotide variant |
not provided [RCV001679326] |
Chr17:823930 [GRCh38] Chr17:727170 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:265516-728030)x3 |
copy number gain |
not provided [RCV000751860] |
Chr17:265516..728030 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:463043-713122)x3 |
copy number gain |
not provided [RCV000751862] |
Chr17:463043..713122 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:504218-713151)x4 |
copy number gain |
not provided [RCV000751865] |
Chr17:504218..713151 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.1125+8C>T |
single nucleotide variant |
NXN-related disorder [RCV003905987]|not provided [RCV000970317] |
Chr17:803674 [GRCh38] Chr17:706914 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.633C>T (p.Leu211=) |
single nucleotide variant |
not provided [RCV000936935] |
Chr17:822437 [GRCh38] Chr17:725677 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.543C>T (p.Asn181=) |
single nucleotide variant |
NXN-related disorder [RCV003930607]|Robinow syndrome, autosomal recessive 2 [RCV002501406]|not provided [RCV000884099] |
Chr17:823701 [GRCh38] Chr17:726941 [GRCh37] Chr17:17p13.3 |
benign|likely benign |
NM_022463.5(NXN):c.1114G>A (p.Val372Ile) |
single nucleotide variant |
NXN-related disorder [RCV003978167]|not provided [RCV000947738] |
Chr17:803693 [GRCh38] Chr17:706933 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) |
copy number gain |
Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] |
Chr17:47546..6287620 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
NM_022463.5(NXN):c.1231GAG[1] (p.Glu412del) |
microsatellite |
Robinow syndrome, autosomal recessive 2 [RCV000791461] |
Chr17:801021..801023 [GRCh38] Chr17:704261..704263 [GRCh37] Chr17:17p13.3 |
pathogenic |
NM_022463.5(NXN):c.-6172_361-75725del |
deletion |
Robinow syndrome, autosomal recessive 2 [RCV000791462] |
Chr17:901803..985850 [GRCh38] Chr17:805043..889090 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:650850-769970)x3 |
copy number gain |
not provided [RCV000849842] |
Chr17:650850..769970 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:843699-927464)x3 |
copy number gain |
not provided [RCV000849975] |
Chr17:843699..927464 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:788763-950495)x3 |
copy number gain |
not provided [RCV000848805] |
Chr17:788763..950495 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:504458-734664)x4 |
copy number gain |
not provided [RCV000848814] |
Chr17:504458..734664 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:55804-1310807)x1 |
copy number loss |
not provided [RCV000847194] |
Chr17:55804..1310807 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:779534-969710)x3 |
copy number gain |
not provided [RCV000847430] |
Chr17:779534..969710 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:464831-898473)x3 |
copy number gain |
not provided [RCV000847070] |
Chr17:464831..898473 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:266710-734664)x3 |
copy number gain |
not provided [RCV000847120] |
Chr17:266710..734664 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:525-1225474)x1 |
copy number loss |
not provided [RCV000845890] |
Chr17:525..1225474 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 |
copy number loss |
See cases [RCV001007429] |
Chr17:8547..5627408 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:39027-843700)x3 |
copy number gain |
not provided [RCV000846507] |
Chr17:39027..843700 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:611025-831508)x3 |
copy number gain |
not provided [RCV000846929] |
Chr17:611025..831508 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:882559-1401416)x1 |
copy number loss |
not provided [RCV000996629] |
Chr17:882559..1401416 [GRCh37] Chr17:17p13.3 |
likely pathogenic |
NC_000017.11:g.979973C>G |
single nucleotide variant |
not provided [RCV001673883] |
Chr17:979973 [GRCh38] Chr17:883213 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.1001-106C>T |
single nucleotide variant |
not provided [RCV001695173] |
Chr17:803912 [GRCh38] Chr17:707152 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.478+4A>G |
single nucleotide variant |
NXN-related disorder [RCV003980662]|not provided [RCV001537354] |
Chr17:825957 [GRCh38] Chr17:729197 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.820+60C>T |
single nucleotide variant |
not provided [RCV001694354] |
Chr17:819379 [GRCh38] Chr17:722619 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.713+241A>T |
single nucleotide variant |
not provided [RCV001650084] |
Chr17:822116 [GRCh38] Chr17:725356 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.963G>A (p.Ala321=) |
single nucleotide variant |
NXN-related disorder [RCV003980806]|not provided [RCV001617620] |
Chr17:805105 [GRCh38] Chr17:708345 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.962C>T (p.Ala321Val) |
single nucleotide variant |
NXN-related disorder [RCV003918564]|not provided [RCV000974544] |
Chr17:805106 [GRCh38] Chr17:708346 [GRCh37] Chr17:17p13.3 |
benign|likely benign |
NM_022463.5(NXN):c.478+7C>T |
single nucleotide variant |
not provided [RCV000953723] |
Chr17:825954 [GRCh38] Chr17:729194 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:525-2221159)x1 |
copy number loss |
not provided [RCV001006848] |
Chr17:525..2221159 [GRCh37] Chr17:17p13.3 |
pathogenic |
NM_022463.5(NXN):c.820+42C>G |
single nucleotide variant |
not provided [RCV001540168] |
Chr17:819397 [GRCh38] Chr17:722637 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.447C>T (p.Asn149=) |
single nucleotide variant |
NXN-related disorder [RCV003915938]|not provided [RCV000957497] |
Chr17:825992 [GRCh38] Chr17:729232 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.361-38077C>T |
single nucleotide variant |
not provided [RCV001677741] |
Chr17:864155 [GRCh38] Chr17:767395 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:526-1690452)x1 |
copy number loss |
not provided [RCV002473942] |
Chr17:526..1690452 [GRCh37] Chr17:17p13.3 |
pathogenic |
NM_022463.5(NXN):c.1126-109G>T |
single nucleotide variant |
not provided [RCV001675499] |
Chr17:801240 [GRCh38] Chr17:704480 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.479-127G>A |
single nucleotide variant |
not provided [RCV001621011] |
Chr17:823892 [GRCh38] Chr17:727132 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.1126-129C>A |
single nucleotide variant |
not provided [RCV001638485] |
Chr17:801260 [GRCh38] Chr17:704500 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.713+119G>A |
single nucleotide variant |
not provided [RCV001638522] |
Chr17:822238 [GRCh38] Chr17:725478 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:489310-811817)x4 |
copy number gain |
not provided [RCV001006852] |
Chr17:489310..811817 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.*147A>C |
single nucleotide variant |
not provided [RCV001666855] |
Chr17:800802 [GRCh38] Chr17:704042 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.1001-128G>C |
single nucleotide variant |
not provided [RCV001670678] |
Chr17:803934 [GRCh38] Chr17:707174 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.*172T>C |
single nucleotide variant |
not provided [RCV001685204] |
Chr17:800777 [GRCh38] Chr17:704017 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.821-44A>G |
single nucleotide variant |
not provided [RCV001616196] |
Chr17:805291 [GRCh38] Chr17:708531 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.361-38078C>G |
single nucleotide variant |
not provided [RCV001609460] |
Chr17:864156 [GRCh38] Chr17:767396 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.613-172T>C |
single nucleotide variant |
not provided [RCV001662841] |
Chr17:822629 [GRCh38] Chr17:725869 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.714-249T>C |
single nucleotide variant |
not provided [RCV001710738] |
Chr17:819794 [GRCh38] Chr17:723034 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.821-81C>T |
single nucleotide variant |
not provided [RCV001539010] |
Chr17:805328 [GRCh38] Chr17:708568 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.-75A>G |
single nucleotide variant |
not provided [RCV001645366] |
Chr17:979753 [GRCh38] Chr17:882993 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.240C>T (p.Pro80=) |
single nucleotide variant |
not provided [RCV001695733] |
Chr17:979439 [GRCh38] Chr17:882679 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.1000+44C>G |
single nucleotide variant |
not provided [RCV001609472] |
Chr17:805024 [GRCh38] Chr17:708264 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:525-969410)x3 |
copy number gain |
not provided [RCV001006849] |
Chr17:525..969410 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:279703-1154012)x3 |
copy number gain |
not provided [RCV001006850] |
Chr17:279703..1154012 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:279703-802757)x3 |
copy number gain |
not provided [RCV001006851] |
Chr17:279703..802757 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.817C>T (p.Gln273Ter) |
single nucleotide variant |
Robinow syndrome, autosomal recessive 2 [RCV001265651] |
Chr17:819442 [GRCh38] Chr17:722682 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:525-1450120)x1 |
copy number loss |
not provided [RCV001259323] |
Chr17:525..1450120 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:611025-832164)x3 |
copy number gain |
not provided [RCV001259326] |
Chr17:611025..832164 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:1-1026797)x1 |
copy number loss |
Robinow syndrome, autosomal recessive 2 [RCV001265652] |
Chr17:1..1026797 [GRCh37] Chr17:17p13.3 |
likely pathogenic |
NM_022463.5(NXN):c.793C>T (p.Arg265Cys) |
single nucleotide variant |
not provided [RCV002001990]|not specified [RCV004042941] |
Chr17:819466 [GRCh38] Chr17:722706 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:111222-964297)x3 |
copy number gain |
not provided [RCV001259324] |
Chr17:111222..964297 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:525-833922)x4 |
copy number gain |
not provided [RCV001259325] |
Chr17:525..833922 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:689282-831589)x3 |
copy number gain |
not provided [RCV001259327] |
Chr17:689282..831589 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:124892-745738)x3 |
copy number gain |
not provided [RCV001259328] |
Chr17:124892..745738 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:84287-2468384)x1 |
copy number loss |
Distal 17p13.3 microdeletion syndrome [RCV001263217] |
Chr17:84287..2468384 [GRCh37] Chr17:17p13.3 |
pathogenic |
NM_022463.5(NXN):c.1125+60C>G |
single nucleotide variant |
not provided [RCV001536605] |
Chr17:803622 [GRCh38] Chr17:706862 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:722145-1875784)x1 |
copy number loss |
not provided [RCV001270662] |
Chr17:722145..1875784 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1000+85C>T |
single nucleotide variant |
not provided [RCV001675469] |
Chr17:804983 [GRCh38] Chr17:708223 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.820+201C>T |
single nucleotide variant |
not provided [RCV001688590] |
Chr17:819238 [GRCh38] Chr17:722478 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.1001-16C>T |
single nucleotide variant |
not provided [RCV001670404] |
Chr17:803822 [GRCh38] Chr17:707062 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.613-30C>T |
single nucleotide variant |
not provided [RCV001617591] |
Chr17:822487 [GRCh38] Chr17:725727 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.479-189C>T |
single nucleotide variant |
not provided [RCV001654255] |
Chr17:823954 [GRCh38] Chr17:727194 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.717G>A (p.Ser239=) |
single nucleotide variant |
not provided [RCV003108698] |
Chr17:819542 [GRCh38] Chr17:722782 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.688G>C (p.Glu230Gln) |
single nucleotide variant |
not provided [RCV002022500] |
Chr17:822382 [GRCh38] Chr17:725622 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:764104-788342)x1 |
copy number loss |
not provided [RCV001834503] |
Chr17:764104..788342 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:504977-735029)x3 |
copy number gain |
not provided [RCV001836584] |
Chr17:504977..735029 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.772A>G (p.Thr258Ala) |
single nucleotide variant |
not provided [RCV001893676] |
Chr17:819487 [GRCh38] Chr17:722727 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.859G>T (p.Val287Leu) |
single nucleotide variant |
not provided [RCV001945304] |
Chr17:805209 [GRCh38] Chr17:708449 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.206G>T (p.Gly69Val) |
single nucleotide variant |
not provided [RCV001863507] |
Chr17:979473 [GRCh38] Chr17:882713 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:667244-1139698)x1 |
copy number loss |
not provided [RCV001827736] |
Chr17:667244..1139698 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:858365-1690452)x3 |
copy number gain |
not provided [RCV001832935] |
Chr17:858365..1690452 [GRCh37] Chr17:17p13.3 |
pathogenic |
NM_022463.5(NXN):c.270C>G (p.Phe90Leu) |
single nucleotide variant |
not provided [RCV002022181] |
Chr17:979409 [GRCh38] Chr17:882649 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.187G>A (p.Asp63Asn) |
single nucleotide variant |
not provided [RCV001912064] |
Chr17:979492 [GRCh38] Chr17:882732 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NC_000017.10:g.(?_722659)_(729338_?)del |
deletion |
not provided [RCV002002269] |
Chr17:722659..729338 [GRCh37] Chr17:17p13.3 |
pathogenic|uncertain significance |
NM_022463.5(NXN):c.1045C>G (p.Gln349Glu) |
single nucleotide variant |
not provided [RCV001947320] |
Chr17:803762 [GRCh38] Chr17:707002 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.382C>T (p.Arg128Ter) |
single nucleotide variant |
not provided [RCV001968432] |
Chr17:826057 [GRCh38] Chr17:729297 [GRCh37] Chr17:17p13.3 |
pathogenic|uncertain significance |
GRCh37/hg19 17p13.3(chr17:626198-899199)x3 |
copy number gain |
not provided [RCV001827687] |
Chr17:626198..899199 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:764104-1193070) |
copy number loss |
not specified [RCV002052577] |
Chr17:764104..1193070 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:124894-745738) |
copy number gain |
not specified [RCV002052576] |
Chr17:124894..745738 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:642556-713391)x1 |
copy number loss |
not provided [RCV001829051] |
Chr17:642556..713391 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NC_000017.10:g.(?_704189)_(729338_?)dup |
duplication |
not provided [RCV001948354] |
Chr17:704189..729338 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NC_000017.10:g.(?_725577)_(1680740_?)dup |
duplication |
not provided [RCV001911524] |
Chr17:725577..1680740 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.734A>T (p.Gln245Leu) |
single nucleotide variant |
not provided [RCV001893703]|not specified [RCV004651794] |
Chr17:819525 [GRCh38] Chr17:722765 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1257G>C (p.Glu419Asp) |
single nucleotide variant |
not provided [RCV001863306] |
Chr17:801000 [GRCh38] Chr17:704240 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.182G>C (p.Arg61Pro) |
single nucleotide variant |
not provided [RCV002011605] |
Chr17:979497 [GRCh38] Chr17:882737 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.690G>C (p.Glu230Asp) |
single nucleotide variant |
not provided [RCV002049412] |
Chr17:822380 [GRCh38] Chr17:725620 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NC_000017.10:g.(?_422368)_(1387567_?)del |
deletion |
not provided [RCV001943173] |
Chr17:422368..1387567 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.933C>G (p.Pro311=) |
single nucleotide variant |
not provided [RCV001956271] |
Chr17:805135 [GRCh38] Chr17:708375 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1025A>T (p.Glu342Val) |
single nucleotide variant |
not provided [RCV001961759]|not specified [RCV004044689] |
Chr17:803782 [GRCh38] Chr17:707022 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.613-7C>G |
single nucleotide variant |
not provided [RCV001963137] |
Chr17:822464 [GRCh38] Chr17:725704 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.190G>A (p.Ala64Thr) |
single nucleotide variant |
not provided [RCV002048234] |
Chr17:979489 [GRCh38] Chr17:882729 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NC_000017.10:g.(?_882539)_(882918_?)dup |
duplication |
not provided [RCV001993031] |
Chr17:882539..882918 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.934G>C (p.Val312Leu) |
single nucleotide variant |
not provided [RCV002009612] |
Chr17:805134 [GRCh38] Chr17:708374 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.201GCCGGG[3] (p.68PG[3]) |
microsatellite |
not provided [RCV001931878] |
Chr17:979466..979467 [GRCh38] Chr17:882706..882707 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.700G>A (p.Val234Ile) |
single nucleotide variant |
not provided [RCV001922708] |
Chr17:822370 [GRCh38] Chr17:725610 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.725C>T (p.Ser242Phe) |
single nucleotide variant |
not provided [RCV001940157]|not specified [RCV004043299] |
Chr17:819534 [GRCh38] Chr17:722774 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.545A>G (p.Asn182Ser) |
single nucleotide variant |
not provided [RCV001981222]|not specified [RCV004837831] |
Chr17:823699 [GRCh38] Chr17:726939 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.278C>T (p.Ser93Leu) |
single nucleotide variant |
not provided [RCV001905884]|not specified [RCV004041407] |
Chr17:979401 [GRCh38] Chr17:882641 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1174G>T (p.Ala392Ser) |
single nucleotide variant |
not provided [RCV001993450] |
Chr17:801083 [GRCh38] Chr17:704323 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.907C>T (p.Arg303Trp) |
single nucleotide variant |
not provided [RCV001867373] |
Chr17:805161 [GRCh38] Chr17:708401 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.897C>T (p.Asp299=) |
single nucleotide variant |
not provided [RCV002205650] |
Chr17:805171 [GRCh38] Chr17:708411 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.820+20G>C |
single nucleotide variant |
not provided [RCV002148069] |
Chr17:819419 [GRCh38] Chr17:722659 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.849G>C (p.Pro283=) |
single nucleotide variant |
not provided [RCV002127751] |
Chr17:805219 [GRCh38] Chr17:708459 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.573G>A (p.Leu191=) |
single nucleotide variant |
not provided [RCV002111595] |
Chr17:823671 [GRCh38] Chr17:726911 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1035G>A (p.Lys345=) |
single nucleotide variant |
not provided [RCV002147084] |
Chr17:803772 [GRCh38] Chr17:707012 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.876G>T (p.Gly292=) |
single nucleotide variant |
not provided [RCV002206209] |
Chr17:805192 [GRCh38] Chr17:708432 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.591C>T (p.Gly197=) |
single nucleotide variant |
not provided [RCV002106003] |
Chr17:823653 [GRCh38] Chr17:726893 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.621C>T (p.Pro207=) |
single nucleotide variant |
not provided [RCV002086761] |
Chr17:822449 [GRCh38] Chr17:725689 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.414C>T (p.Leu138=) |
single nucleotide variant |
not provided [RCV002104958] |
Chr17:826025 [GRCh38] Chr17:729265 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.6G>C (p.Ser2=) |
single nucleotide variant |
not provided [RCV002114075] |
Chr17:979673 [GRCh38] Chr17:882913 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.972C>T (p.Asn324=) |
single nucleotide variant |
not provided [RCV002111315] |
Chr17:805096 [GRCh38] Chr17:708336 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.403C>G (p.Leu135Val) |
single nucleotide variant |
not provided [RCV001945022]|not specified [RCV004043396] |
Chr17:826036 [GRCh38] Chr17:729276 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.820+14_820+15del |
deletion |
not provided [RCV002212572] |
Chr17:819424..819425 [GRCh38] Chr17:722664..722665 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.821-14C>G |
single nucleotide variant |
not provided [RCV002193575] |
Chr17:805261 [GRCh38] Chr17:708501 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.618G>A (p.Pro206=) |
single nucleotide variant |
NXN-related disorder [RCV003951329]|not provided [RCV002196553] |
Chr17:822452 [GRCh38] Chr17:725692 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.894C>T (p.Asn298=) |
single nucleotide variant |
not provided [RCV002194647] |
Chr17:805174 [GRCh38] Chr17:708414 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.478+11A>T |
single nucleotide variant |
not provided [RCV002214872] |
Chr17:825950 [GRCh38] Chr17:729190 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.714-17C>G |
single nucleotide variant |
not provided [RCV002076718] |
Chr17:819562 [GRCh38] Chr17:722802 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.501G>A (p.Pro167=) |
single nucleotide variant |
not provided [RCV002116134] |
Chr17:823743 [GRCh38] Chr17:726983 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.1000+13C>T |
single nucleotide variant |
Robinow syndrome, autosomal recessive 2 [RCV002500033]|not provided [RCV002117995] |
Chr17:805055 [GRCh38] Chr17:708295 [GRCh37] Chr17:17p13.3 |
benign|likely benign |
NM_022463.5(NXN):c.820+19G>A |
single nucleotide variant |
not provided [RCV002136228] |
Chr17:819420 [GRCh38] Chr17:722660 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1125+9G>A |
single nucleotide variant |
NXN-related disorder [RCV003951262]|not provided [RCV002139027] |
Chr17:803673 [GRCh38] Chr17:706913 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.183G>A (p.Arg61=) |
single nucleotide variant |
not provided [RCV002097972] |
Chr17:979496 [GRCh38] Chr17:882736 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.774G>A (p.Thr258=) |
single nucleotide variant |
not provided [RCV002117888] |
Chr17:819485 [GRCh38] Chr17:722725 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.713+16A>C |
single nucleotide variant |
not provided [RCV002160209] |
Chr17:822341 [GRCh38] Chr17:725581 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.357G>A (p.Arg119=) |
single nucleotide variant |
NXN-related disorder [RCV003911257]|not provided [RCV002200373] |
Chr17:979322 [GRCh38] Chr17:882562 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.360+14del |
deletion |
not provided [RCV002102772] |
Chr17:979305 [GRCh38] Chr17:882545 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.1296G>A (p.Pro432=) |
single nucleotide variant |
not provided [RCV002119208] |
Chr17:800961 [GRCh38] Chr17:704201 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.1001-14C>T |
single nucleotide variant |
not provided [RCV002139984] |
Chr17:803820 [GRCh38] Chr17:707060 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.820+18dup |
duplication |
not provided [RCV002176862] |
Chr17:819420..819421 [GRCh38] Chr17:722660..722661 [GRCh37] Chr17:17p13.3 |
benign |
NM_022463.5(NXN):c.987C>T (p.Leu329=) |
single nucleotide variant |
not provided [RCV002176217] |
Chr17:805081 [GRCh38] Chr17:708321 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.951C>T (p.Asp317=) |
single nucleotide variant |
not provided [RCV002162882] |
Chr17:805117 [GRCh38] Chr17:708357 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.810C>T (p.Tyr270=) |
single nucleotide variant |
NXN-related disorder [RCV003971144]|not provided [RCV002178908] |
Chr17:819449 [GRCh38] Chr17:722689 [GRCh37] Chr17:17p13.3 |
benign|likely benign |
NC_000017.10:g.(?_422368)_(1680740_?)del |
deletion |
not provided [RCV003109565] |
Chr17:422368..1680740 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.130G>A (p.Ala44Thr) |
single nucleotide variant |
not provided [RCV003114835] |
Chr17:979549 [GRCh38] Chr17:882789 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NC_000017.10:g.(?_722659)_(722805_?)del |
deletion |
not provided [RCV003111496] |
Chr17:722659..722805 [GRCh37] Chr17:17p13.3 |
pathogenic |
NC_000017.10:g.(?_505015)_(722805_?)dup |
duplication |
not provided [RCV003111498] |
Chr17:505015..722805 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NC_000017.10:g.(?_882539)_(1387567_?)del |
deletion |
not provided [RCV003111499] |
Chr17:882539..1387567 [GRCh37] Chr17:17p13.3 |
pathogenic |
NM_022463.5(NXN):c.784C>T (p.Arg262Trp) |
single nucleotide variant |
not provided [RCV002259479] |
Chr17:819475 [GRCh38] Chr17:722715 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:525-1464281) |
copy number loss |
Miller Dieker syndrome [RCV002280706] |
Chr17:525..1464281 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:489311-831589)x4 |
copy number gain |
not provided [RCV002472700] |
Chr17:489311..831589 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:503526-735311)x4 |
copy number gain |
not provided [RCV002474660] |
Chr17:503526..735311 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:735868-858326)x4 |
copy number gain |
not provided [RCV002472881] |
Chr17:735868..858326 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:504459-734664)x4 |
copy number gain |
not provided [RCV002473877] |
Chr17:504459..734664 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1125+7G>A |
single nucleotide variant |
not provided [RCV002862689] |
Chr17:803675 [GRCh38] Chr17:706915 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1001-18C>A |
single nucleotide variant |
not provided [RCV002618830] |
Chr17:803824 [GRCh38] Chr17:707064 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.849G>T (p.Pro283=) |
single nucleotide variant |
not provided [RCV002843443] |
Chr17:805219 [GRCh38] Chr17:708459 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.960C>T (p.Ala320=) |
single nucleotide variant |
not provided [RCV002756392] |
Chr17:805108 [GRCh38] Chr17:708348 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1256A>G (p.Glu419Gly) |
single nucleotide variant |
not specified [RCV004145387] |
Chr17:801001 [GRCh38] Chr17:704241 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1015G>A (p.Gly339Arg) |
single nucleotide variant |
not provided [RCV002613947] |
Chr17:803792 [GRCh38] Chr17:707032 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1162C>G (p.Leu388Val) |
single nucleotide variant |
not specified [RCV004161708] |
Chr17:801095 [GRCh38] Chr17:704335 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:665031-831589)x3 |
copy number gain |
not provided [RCV002475703] |
Chr17:665031..831589 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.958G>A (p.Ala320Thr) |
single nucleotide variant |
not provided [RCV002593042] |
Chr17:805110 [GRCh38] Chr17:708350 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.455T>C (p.Leu152Pro) |
single nucleotide variant |
not provided [RCV002953762] |
Chr17:825984 [GRCh38] Chr17:729224 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.867G>A (p.Thr289=) |
single nucleotide variant |
not provided [RCV002952740] |
Chr17:805201 [GRCh38] Chr17:708441 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.821-16C>A |
single nucleotide variant |
not provided [RCV002593279] |
Chr17:805263 [GRCh38] Chr17:708503 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.207G>A (p.Gly69=) |
single nucleotide variant |
not provided [RCV002976513] |
Chr17:979472 [GRCh38] Chr17:882712 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.212G>A (p.Gly71Glu) |
single nucleotide variant |
not specified [RCV004086624] |
Chr17:979467 [GRCh38] Chr17:882707 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.617C>T (p.Pro206Leu) |
single nucleotide variant |
not provided [RCV002590411] |
Chr17:822453 [GRCh38] Chr17:725693 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.250C>T (p.Arg84Trp) |
single nucleotide variant |
not specified [RCV004166565] |
Chr17:979429 [GRCh38] Chr17:882669 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.802C>T (p.Arg268Trp) |
single nucleotide variant |
not specified [RCV004211787] |
Chr17:819457 [GRCh38] Chr17:722697 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1120G>A (p.Gly374Arg) |
single nucleotide variant |
not provided [RCV003078522]|not specified [RCV004071951] |
Chr17:803687 [GRCh38] Chr17:706927 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.210G>A (p.Pro70=) |
single nucleotide variant |
not provided [RCV002932332] |
Chr17:979469 [GRCh38] Chr17:882709 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.658C>A (p.Arg220=) |
single nucleotide variant |
not provided [RCV002853153] |
Chr17:822412 [GRCh38] Chr17:725652 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.271G>T (p.Val91Leu) |
single nucleotide variant |
not specified [RCV004093320] |
Chr17:979408 [GRCh38] Chr17:882648 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.163G>T (p.Ala55Ser) |
single nucleotide variant |
not provided [RCV002711294] |
Chr17:979516 [GRCh38] Chr17:882756 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.415G>A (p.Asp139Asn) |
single nucleotide variant |
not specified [RCV004206453] |
Chr17:826024 [GRCh38] Chr17:729264 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.714-16G>A |
single nucleotide variant |
not provided [RCV002575822] |
Chr17:819561 [GRCh38] Chr17:722801 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.820+6C>T |
single nucleotide variant |
not provided [RCV002572780] |
Chr17:819433 [GRCh38] Chr17:722673 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1155C>T (p.Tyr385=) |
single nucleotide variant |
not provided [RCV002805453] |
Chr17:801102 [GRCh38] Chr17:704342 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.882G>A (p.Val294=) |
single nucleotide variant |
not provided [RCV002917276] |
Chr17:805186 [GRCh38] Chr17:708426 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.191C>A (p.Ala64Glu) |
single nucleotide variant |
not provided [RCV002852432] |
Chr17:979488 [GRCh38] Chr17:882728 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.360+16C>T |
single nucleotide variant |
not provided [RCV003059097] |
Chr17:979303 [GRCh38] Chr17:882543 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.360+16C>A |
single nucleotide variant |
not provided [RCV003007716] |
Chr17:979303 [GRCh38] Chr17:882543 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.752C>T (p.Pro251Leu) |
single nucleotide variant |
not specified [RCV004124790] |
Chr17:819507 [GRCh38] Chr17:722747 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.612+20T>A |
single nucleotide variant |
not provided [RCV002600962] |
Chr17:823612 [GRCh38] Chr17:726852 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1185C>T (p.Leu395=) |
single nucleotide variant |
not provided [RCV002941923] |
Chr17:801072 [GRCh38] Chr17:704312 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.613-10T>C |
single nucleotide variant |
not provided [RCV002937791] |
Chr17:822467 [GRCh38] Chr17:725707 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1230G>A (p.Val410=) |
single nucleotide variant |
not provided [RCV002580802] |
Chr17:801027 [GRCh38] Chr17:704267 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.168C>A (p.Phe56Leu) |
single nucleotide variant |
not specified [RCV004169925] |
Chr17:979511 [GRCh38] Chr17:882751 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.821-16C>T |
single nucleotide variant |
not provided [RCV002856696] |
Chr17:805263 [GRCh38] Chr17:708503 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.276C>A (p.Ser92=) |
single nucleotide variant |
not provided [RCV002646447] |
Chr17:979403 [GRCh38] Chr17:882643 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.478+16G>C |
single nucleotide variant |
not provided [RCV002630653] |
Chr17:825945 [GRCh38] Chr17:729185 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1233G>C (p.Glu411Asp) |
single nucleotide variant |
not specified [RCV004192504] |
Chr17:801024 [GRCh38] Chr17:704264 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.500C>G (p.Pro167Arg) |
single nucleotide variant |
not provided [RCV002962607] |
Chr17:823744 [GRCh38] Chr17:726984 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.933C>T (p.Pro311=) |
single nucleotide variant |
not provided [RCV003088213] |
Chr17:805135 [GRCh38] Chr17:708375 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.360+19G>T |
single nucleotide variant |
not provided [RCV002631932] |
Chr17:979300 [GRCh38] Chr17:882540 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1050G>A (p.Pro350=) |
single nucleotide variant |
not provided [RCV002629273] |
Chr17:803757 [GRCh38] Chr17:706997 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.185G>C (p.Gly62Ala) |
single nucleotide variant |
not provided [RCV002598419] |
Chr17:979494 [GRCh38] Chr17:882734 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1014C>T (p.Asp338=) |
single nucleotide variant |
not provided [RCV002608570] |
Chr17:803793 [GRCh38] Chr17:707033 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.168C>G (p.Phe56Leu) |
single nucleotide variant |
not provided [RCV002605818] |
Chr17:979511 [GRCh38] Chr17:882751 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.478+14C>G |
single nucleotide variant |
not provided [RCV002653166] |
Chr17:825947 [GRCh38] Chr17:729187 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.199G>C (p.Gly67Arg) |
single nucleotide variant |
not provided [RCV002588872] |
Chr17:979480 [GRCh38] Chr17:882720 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.438G>T (p.Val146=) |
single nucleotide variant |
not provided [RCV002943150] |
Chr17:826001 [GRCh38] Chr17:729241 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.360+15C>T |
single nucleotide variant |
not provided [RCV002583357] |
Chr17:979304 [GRCh38] Chr17:882544 [GRCh37] Chr17:17p13.3 |
likely benign |
NC_000017.10:g.(?_422368)_(2585096_?)dup |
duplication |
not provided [RCV003154911] |
Chr17:422368..2585096 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NC_000017.10:g.(?_422368)_(1945151_?)del |
deletion |
not provided [RCV003154904] |
Chr17:422368..1945151 [GRCh37] Chr17:17p13.3 |
pathogenic |
NM_022463.5(NXN):c.803G>A (p.Arg268Gln) |
single nucleotide variant |
not specified [RCV003226843] |
Chr17:819456 [GRCh38] Chr17:722696 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.788G>A (p.Arg263Gln) |
single nucleotide variant |
not specified [RCV004285308] |
Chr17:819471 [GRCh38] Chr17:722711 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1218C>T (p.Tyr406=) |
single nucleotide variant |
NXN-related disorder [RCV003909190]|not provided [RCV003852666] |
Chr17:801039 [GRCh38] Chr17:704279 [GRCh37] Chr17:17p13.3 |
likely benign |
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 |
copy number gain |
Chromosome 17p13.3 duplication syndrome [RCV003327726] |
Chr17:165730..11404096 [GRCh38] Chr17:17p13.3-12 |
pathogenic |
NM_022463.5(NXN):c.1021_1024del (p.Ser341fs) |
deletion |
not provided [RCV003570726] |
Chr17:803783..803786 [GRCh38] Chr17:707023..707026 [GRCh37] Chr17:17p13.3 |
pathogenic |
Single allele |
deletion |
not provided [RCV003448682] |
Chr17:2..4611147 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1 |
copy number loss |
not provided [RCV003483307] |
Chr17:526..3441645 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:526-2687966)x3 |
copy number gain |
not provided [RCV003485133] |
Chr17:526..2687966 [GRCh37] Chr17:17p13.3 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:399878-714173)x3 |
copy number gain |
not provided [RCV003485135] |
Chr17:399878..714173 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1251C>T (p.Ile417=) |
single nucleotide variant |
not provided [RCV003419554] |
Chr17:801006 [GRCh38] Chr17:704246 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.658C>T (p.Arg220Trp) |
single nucleotide variant |
not provided [RCV003831838] |
Chr17:822412 [GRCh38] Chr17:725652 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1126-9C>T |
single nucleotide variant |
not provided [RCV003878339] |
Chr17:801140 [GRCh38] Chr17:704380 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1026G>A (p.Glu342=) |
single nucleotide variant |
not provided [RCV003833833] |
Chr17:803781 [GRCh38] Chr17:707021 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.613-11C>A |
single nucleotide variant |
not provided [RCV003834396] |
Chr17:822468 [GRCh38] Chr17:725708 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1000+14G>A |
single nucleotide variant |
not provided [RCV003811190] |
Chr17:805054 [GRCh38] Chr17:708294 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.948C>G (p.Ser316=) |
single nucleotide variant |
not provided [RCV003550210] |
Chr17:805120 [GRCh38] Chr17:708360 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.117C>T (p.Gly39=) |
single nucleotide variant |
not provided [RCV003665139] |
Chr17:979562 [GRCh38] Chr17:882802 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.792G>A (p.Ser264=) |
single nucleotide variant |
not provided [RCV003856500] |
Chr17:819467 [GRCh38] Chr17:722707 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.759C>T (p.Leu253=) |
single nucleotide variant |
not provided [RCV003816102] |
Chr17:819500 [GRCh38] Chr17:722740 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.216G>T (p.Ala72=) |
single nucleotide variant |
not provided [RCV003667305] |
Chr17:979463 [GRCh38] Chr17:882703 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.129C>T (p.Ser43=) |
single nucleotide variant |
NXN-related disorder [RCV003956482]|not provided [RCV003698533] |
Chr17:979550 [GRCh38] Chr17:882790 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.360+7G>A |
single nucleotide variant |
not provided [RCV003717912] |
Chr17:979312 [GRCh38] Chr17:882552 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.762C>T (p.Ala254=) |
single nucleotide variant |
not provided [RCV003725179] |
Chr17:819497 [GRCh38] Chr17:722737 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.246G>A (p.Pro82=) |
single nucleotide variant |
not provided [RCV003554178] |
Chr17:979433 [GRCh38] Chr17:882673 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.420C>T (p.Ala140=) |
single nucleotide variant |
not provided [RCV003708216] |
Chr17:826019 [GRCh38] Chr17:729259 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.666C>A (p.Ile222=) |
single nucleotide variant |
not provided [RCV003705697] |
Chr17:822404 [GRCh38] Chr17:725644 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.949G>A (p.Asp317Asn) |
single nucleotide variant |
not provided [RCV003852911]|not specified [RCV004366976] |
Chr17:805119 [GRCh38] Chr17:708359 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.713+20G>T |
single nucleotide variant |
not provided [RCV003821496] |
Chr17:822337 [GRCh38] Chr17:725577 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.820+7G>A |
single nucleotide variant |
NXN-related disorder [RCV003948996]|not provided [RCV003727198] |
Chr17:819432 [GRCh38] Chr17:722672 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1299G>A (p.Glu433=) |
single nucleotide variant |
not provided [RCV003859397] |
Chr17:800958 [GRCh38] Chr17:704198 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.659G>A (p.Arg220Gln) |
single nucleotide variant |
not provided [RCV003557211] |
Chr17:822411 [GRCh38] Chr17:725651 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.261G>A (p.Glu87=) |
single nucleotide variant |
not provided [RCV003871074] |
Chr17:979418 [GRCh38] Chr17:882658 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1023C>T (p.Ser341=) |
single nucleotide variant |
not provided [RCV003727475] |
Chr17:803784 [GRCh38] Chr17:707024 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.714-17C>T |
single nucleotide variant |
not provided [RCV003820278] |
Chr17:819562 [GRCh38] Chr17:722802 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.*2G>A |
single nucleotide variant |
NXN-related disorder [RCV003941523] |
Chr17:800947 [GRCh38] Chr17:704187 [GRCh37] Chr17:17p13.3 |
likely benign |
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 |
copy number loss |
not specified [RCV003987214] |
Chr17:9474..6017500 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 |
copy number gain |
not specified [RCV003987215] |
Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2 |
pathogenic |
NM_022463.5(NXN):c.478+3_478+6dup |
duplication |
not provided [RCV003731802] |
Chr17:825954..825955 [GRCh38] Chr17:729194..729195 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1125+6dup |
duplication |
not provided [RCV003681248] |
Chr17:803675..803676 [GRCh38] Chr17:706915..706916 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.714-18A>G |
single nucleotide variant |
not provided [RCV003865112] |
Chr17:819563 [GRCh38] Chr17:722803 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.585C>T (p.His195=) |
single nucleotide variant |
not provided [RCV003848349] |
Chr17:823659 [GRCh38] Chr17:726899 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.713+7C>T |
single nucleotide variant |
not provided [RCV003705672] |
Chr17:822350 [GRCh38] Chr17:725590 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.187G>C (p.Asp63His) |
single nucleotide variant |
not specified [RCV004491355] |
Chr17:979492 [GRCh38] Chr17:882732 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.464G>T (p.Arg155Leu) |
single nucleotide variant |
not specified [RCV004491356] |
Chr17:825975 [GRCh38] Chr17:729215 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1090G>A (p.Glu364Lys) |
single nucleotide variant |
not specified [RCV004491354] |
Chr17:803717 [GRCh38] Chr17:706957 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.361-37964C>T |
single nucleotide variant |
not provided [RCV003884173] |
Chr17:864042 [GRCh38] Chr17:767282 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.361-37967A>G |
single nucleotide variant |
NXN-related disorder [RCV003909290] |
Chr17:864045 [GRCh38] Chr17:767285 [GRCh37] Chr17:17p13.3 |
benign |
GRCh37/hg19 17p13.3(chr17:722145-1875784)x1 |
copy number loss |
not provided [RCV004577495] |
Chr17:722145..1875784 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NC_000017.10:g.(?_722659)_(729338_?)dup |
duplication |
not provided [RCV004581444] |
Chr17:722659..729338 [GRCh37] Chr17:17p13.3 |
likely pathogenic |
NC_000017.10:g.(?_422368)_(708507_?)dup |
duplication |
not provided [RCV004581445] |
Chr17:422368..708507 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NC_000017.10:g.(?_882539)_(1565467_?)del |
deletion |
not provided [RCV004581442] |
Chr17:882539..1565467 [GRCh37] Chr17:17p13.3 |
pathogenic |
NC_000017.10:g.(?_422368)_(8285628_?)dup |
duplication |
not provided [RCV004581443] |
Chr17:422368..8285628 [GRCh37] Chr17:17p13.3-13.1 |
uncertain significance |
NM_022463.5(NXN):c.185G>A (p.Gly62Glu) |
single nucleotide variant |
not specified [RCV004652830] |
Chr17:979494 [GRCh38] Chr17:882734 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.356G>T (p.Arg119Met) |
single nucleotide variant |
not specified [RCV004652829] |
Chr17:979323 [GRCh38] Chr17:882563 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3(chr17:572507-1429100)x1 |
copy number loss |
not provided [RCV004819293] |
Chr17:572507..1429100 [GRCh37] Chr17:17p13.3 |
likely pathogenic |
NM_022463.5(NXN):c.988G>A (p.Val330Ile) |
single nucleotide variant |
not specified [RCV004832772] |
Chr17:805080 [GRCh38] Chr17:708320 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.338C>G (p.Pro113Arg) |
single nucleotide variant |
not specified [RCV004835639] |
Chr17:979341 [GRCh38] Chr17:882581 [GRCh37] Chr17:17p13.3 |
uncertain significance |
GRCh37/hg19 17p13.3-13.2(chr17:9475-3793447)x1 |
copy number loss |
not provided [RCV004819390] |
Chr17:9475..3793447 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3(chr17:526-735868)x4 |
copy number gain |
not provided [RCV004819626] |
Chr17:526..735868 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.205G>A (p.Gly69Arg) |
single nucleotide variant |
not specified [RCV004835638] |
Chr17:979474 [GRCh38] Chr17:882714 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.79G>A (p.Gly27Ser) |
single nucleotide variant |
not specified [RCV004832771] |
Chr17:979600 [GRCh38] Chr17:882840 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1247C>T (p.Ala416Val) |
single nucleotide variant |
not specified [RCV004832773] |
Chr17:801010 [GRCh38] Chr17:704250 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.1049C>T (p.Pro350Leu) |
single nucleotide variant |
not specified [RCV004832774] |
Chr17:803758 [GRCh38] Chr17:706998 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.820+18C>T |
single nucleotide variant |
not provided [RCV005064166] |
Chr17:819421 [GRCh38] Chr17:722661 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1001-13G>A |
single nucleotide variant |
not provided [RCV005066981] |
Chr17:803819 [GRCh38] Chr17:707059 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.246G>C (p.Pro82=) |
single nucleotide variant |
not provided [RCV005203998] |
Chr17:979433 [GRCh38] Chr17:882673 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.177C>T (p.Arg59=) |
single nucleotide variant |
not provided [RCV005075013] |
Chr17:979502 [GRCh38] Chr17:882742 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.244C>T (p.Pro82Ser) |
single nucleotide variant |
not provided [RCV005072124] |
Chr17:979435 [GRCh38] Chr17:882675 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.187del (p.Asp63fs) |
deletion |
not provided [RCV005199865] |
Chr17:979492 [GRCh38] Chr17:882732 [GRCh37] Chr17:17p13.3 |
pathogenic |
NM_022463.5(NXN):c.361-19T>C |
single nucleotide variant |
not provided [RCV005133523] |
Chr17:826097 [GRCh38] Chr17:729337 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.494G>A (p.Trp165Ter) |
single nucleotide variant |
not provided [RCV005141262] |
Chr17:823750 [GRCh38] Chr17:726990 [GRCh37] Chr17:17p13.3 |
pathogenic |
NM_022463.5(NXN):c.627A>C (p.Arg209=) |
single nucleotide variant |
not provided [RCV005192748] |
Chr17:822443 [GRCh38] Chr17:725683 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1126-4T>A |
single nucleotide variant |
not provided [RCV005160477] |
Chr17:801135 [GRCh38] Chr17:704375 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.603C>T (p.Ser201=) |
single nucleotide variant |
not provided [RCV005160580] |
Chr17:823641 [GRCh38] Chr17:726881 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.699C>T (p.Phe233=) |
single nucleotide variant |
not provided [RCV005084523] |
Chr17:822371 [GRCh38] Chr17:725611 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.478+15C>T |
single nucleotide variant |
not provided [RCV005081825] |
Chr17:825946 [GRCh38] Chr17:729186 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.713+12C>A |
single nucleotide variant |
not provided [RCV005082017] |
Chr17:822345 [GRCh38] Chr17:725585 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.99G>T (p.Leu33=) |
single nucleotide variant |
not provided [RCV005080399] |
Chr17:979580 [GRCh38] Chr17:882820 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.613-17G>T |
single nucleotide variant |
not provided [RCV005201910] |
Chr17:822474 [GRCh38] Chr17:725714 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.270C>T (p.Phe90=) |
single nucleotide variant |
not provided [RCV005123882] |
Chr17:979409 [GRCh38] Chr17:882649 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.291G>A (p.Gln97=) |
single nucleotide variant |
not provided [RCV005204506] |
Chr17:979388 [GRCh38] Chr17:882628 [GRCh37] Chr17:17p13.3 |
likely benign |
NM_022463.5(NXN):c.1199T>C (p.Met400Thr) |
single nucleotide variant |
not provided [RCV005197775] |
Chr17:801058 [GRCh38] Chr17:704298 [GRCh37] Chr17:17p13.3 |
uncertain significance |
NM_022463.5(NXN):c.360+12_360+20del |
deletion |
not provided [RCV005075266] |
Chr17:979299..979307 [GRCh38] Chr17:882539..882547 [GRCh37] Chr17:17p13.3 |
likely benign |