| NM_003183.6(ADAM17):c.705C>G (p.Phe235Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000528582] |
Chr2:9526159 [GRCh38]
Chr2:9666288 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1695T>C (p.Thr565=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000551089]|not provided [RCV004708939] |
Chr2:9497202 [GRCh38]
Chr2:9637331 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.603_606del (p.Asp201fs) |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000023322] |
Chr2:9527799..9527802 [GRCh38]
Chr2:9667928..9667931 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.867A>G (p.Gln289=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000549319] |
Chr2:9521293 [GRCh38]
Chr2:9661422 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.604A>G (p.Arg202Gly) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000547882]|not provided [RCV001692182] |
Chr2:9527801 [GRCh38]
Chr2:9667930 [GRCh37]
Chr2:2p25.1 |
benign |
| GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 |
copy number gain |
See cases [RCV000052928] |
Chr2:30141..14494040 [GRCh38]
Chr2:30141..14634164 [GRCh37]
Chr2:20141..14551615 [NCBI36]
Chr2:2p25.3-24.3 |
pathogenic |
| GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 |
copy number gain |
See cases [RCV000052929] |
Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1 |
pathogenic |
| GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 |
copy number gain |
See cases [RCV000052931] |
Chr2:30342..14866951 [GRCh38]
Chr2:30342..15007075 [GRCh37]
Chr2:20342..14924526 [NCBI36]
Chr2:2p25.3-24.3 |
pathogenic |
| GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3 |
copy number gain |
See cases [RCV000052932] |
Chr2:50661..9652907 [GRCh38]
Chr2:50661..9793036 [GRCh37]
Chr2:40661..9710487 [NCBI36]
Chr2:2p25.3-25.1 |
pathogenic |
| GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 |
copy number gain |
See cases [RCV000052933] |
Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1 |
pathogenic |
| GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1 |
copy number loss |
See cases [RCV000053978] |
Chr2:6531172..16103799 [GRCh38]
Chr2:6671304..16243921 [GRCh37]
Chr2:6588755..16161372 [NCBI36]
Chr2:2p25.2-24.3 |
pathogenic |
| NM_003183.6(ADAM17):c.2169_2178del (p.Val724fs) |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001303782] |
Chr2:9490474..9490483 [GRCh38]
Chr2:9630603..9630612 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 |
copy number gain |
See cases [RCV000135398] |
Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2 |
pathogenic |
| GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 |
copy number gain |
See cases [RCV000137344] |
Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3 |
pathogenic |
| GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 |
copy number gain |
See cases [RCV000137913] |
Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1 |
pathogenic|likely pathogenic |
| GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 |
copy number gain |
See cases [RCV000141226] |
Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1 |
pathogenic |
| GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 |
copy number gain |
See cases [RCV000141829] |
Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3 |
pathogenic |
| GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 |
copy number gain |
See cases [RCV000141877] |
Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3 |
pathogenic |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 |
copy number gain |
See cases [RCV000143682] |
Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21 |
pathogenic |
| NM_003183.6(ADAM17):c.847C>T (p.Arg283Cys) |
single nucleotide variant |
Anophthalmia-microphthalmia syndrome [RCV000207437] |
Chr2:9521313 [GRCh38]
Chr2:9661442 [GRCh37]
Chr2:2p25.1 |
pathogenic|likely benign |
| NM_003183.6(ADAM17):c.1919A>T (p.Lys640Ile) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000559086] |
Chr2:9493821 [GRCh38]
Chr2:9633950 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1531G>A (p.Gly511Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000533927] |
Chr2:9505179 [GRCh38]
Chr2:9645308 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.777T>C (p.Asp259=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000541233] |
Chr2:9523315 [GRCh38]
Chr2:9663444 [GRCh37]
Chr2:2p25.1 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 |
copy number gain |
See cases [RCV000510934] |
Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1 |
pathogenic |
| NM_003183.6(ADAM17):c.2243C>T (p.Ala748Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000535273]|not provided [RCV004708940] |
Chr2:9490409 [GRCh38]
Chr2:9630538 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.148A>G (p.Ile50Val) |
single nucleotide variant |
ADAM17-related disorder [RCV003915599]|Inflammatory skin and bowel disease, neonatal, 1 [RCV000557790]|not provided [RCV001529548] |
Chr2:9543235 [GRCh38]
Chr2:9543235..9543236 [GRCh38]
Chr2:9683364 [GRCh37]
Chr2:9683364..9683365 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1471C>T (p.Pro491Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000649849] |
Chr2:9505239 [GRCh38]
Chr2:9645368 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_003183.6(ADAM17):c.2416G>C (p.Ala806Pro) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000649850] |
Chr2:9490236 [GRCh38]
Chr2:9630365 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1970A>G (p.Asp657Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002531945]|Inflammatory skin and bowel disease, neonatal, 1 [RCV000649851] |
Chr2:9493770 [GRCh38]
Chr2:9633899 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1960G>A (p.Asp654Asn) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000649852]|not provided [RCV003480739] |
Chr2:9493780 [GRCh38]
Chr2:9633909 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.844-5T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000649853]|not provided [RCV003411532] |
Chr2:9521321 [GRCh38]
Chr2:9661450 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2017G>A (p.Val673Ile) |
single nucleotide variant |
ADAM17-related disorder [RCV003980263]|Inflammatory skin and bowel disease, neonatal, 1 [RCV000649854]|not provided [RCV004708978] |
Chr2:9492963 [GRCh38]
Chr2:9633092 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_003183.6(ADAM17):c.2073C>T (p.Val691=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000649855] |
Chr2:9492907 [GRCh38]
Chr2:9633036 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.354C>T (p.His118=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000649856] |
Chr2:9536705 [GRCh38]
Chr2:9676834 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.622C>T (p.Leu208Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003266380] |
Chr2:9526242 [GRCh38]
Chr2:9666371 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2300G>A (p.Ser767Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004609499]|Inflammatory skin and bowel disease, neonatal, 1 [RCV000698290] |
Chr2:9490352 [GRCh38]
Chr2:9630481 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.46C>G (p.Leu16Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000700149] |
Chr2:9555560 [GRCh38]
Chr2:9695689 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1520C>T (p.Thr507Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004609502]|Inflammatory skin and bowel disease, neonatal, 1 [RCV000700390] |
Chr2:9505190 [GRCh38]
Chr2:9645319 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1907A>G (p.Asp636Gly) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000697353] |
Chr2:9494644 [GRCh38]
Chr2:9634773 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1511G>A (p.Ser504Asn) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000693044] |
Chr2:9505199 [GRCh38]
Chr2:9645328 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.652C>A (p.Pro218Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002532331]|Inflammatory skin and bowel disease, neonatal, 1 [RCV000695804] |
Chr2:9526212 [GRCh38]
Chr2:9666341 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.53C>T (p.Pro18Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000695996] |
Chr2:9555553 [GRCh38]
Chr2:9695682 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1331A>G (p.His444Arg) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000700775] |
Chr2:9509992 [GRCh38]
Chr2:9650121 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003183.6(ADAM17):c.1545-73G>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001549059]|not provided [RCV001673188]|not specified [RCV003399359] |
Chr2:9502349 [GRCh38]
Chr2:9642478 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.619+164A>G |
single nucleotide variant |
not provided [RCV001681072] |
Chr2:9527622 [GRCh38]
Chr2:9667751 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.*75G>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001548957]|not provided [RCV001694089]|not specified [RCV003394131] |
Chr2:9490102 [GRCh38]
Chr2:9630231 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.484A>G (p.Lys162Glu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000961387]|not provided [RCV004709006] |
Chr2:9527921 [GRCh38]
Chr2:9668050 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2082+52C>T |
single nucleotide variant |
not provided [RCV001535233] |
Chr2:9492846 [GRCh38]
Chr2:9632975 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2388G>A (p.Thr796=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002065577] |
Chr2:9490264 [GRCh38]
Chr2:9630393 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1994-22A>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001548960]|not provided [RCV001676052]|not specified [RCV003394134] |
Chr2:9493008 [GRCh38]
Chr2:9633137 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1915-146C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001549058]|not provided [RCV001713127] |
Chr2:9493971 [GRCh38]
Chr2:9634100 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2398G>T (p.Val800Phe) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001046669] |
Chr2:9490254 [GRCh38]
Chr2:9630383 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1191+83T>A |
single nucleotide variant |
not provided [RCV001645919] |
Chr2:9517818 [GRCh38]
Chr2:9657947 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.-172T>C |
single nucleotide variant |
Mycobacterium tuberculosis, susceptibility to [RCV004779131]|not provided [RCV001611354] |
Chr2:9555777 [GRCh38]
Chr2:9695906 [GRCh37]
Chr2:2p25.1 |
benign|uncertain significance |
| NM_003183.6(ADAM17):c.1192-91_1192-90insTTAT |
insertion |
not provided [RCV001609114]|not specified [RCV003394163] |
Chr2:9510221..9510222 [GRCh38]
Chr2:9650350..9650351 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.319T>C (p.Tyr107His) |
single nucleotide variant |
not provided [RCV000997027] |
Chr2:9536740 [GRCh38]
Chr2:9676869 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.267T>C (p.Arg89=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000942739] |
Chr2:9536792 [GRCh38]
Chr2:9676921 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.435C>G (p.Ala145=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000967622]|not provided [RCV001729764] |
Chr2:9535849 [GRCh38]
Chr2:9675978 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2205T>G (p.Thr735=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001446142] |
Chr2:9490447 [GRCh38]
Chr2:9630576 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.81C>T (p.Gly27=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000892589]|not provided [RCV003424451] |
Chr2:9555525 [GRCh38]
Chr2:9695654 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_003183.6(ADAM17):c.315C>T (p.Ser105=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001485700] |
Chr2:9536744 [GRCh38]
Chr2:9676873 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2244G>A (p.Ala748=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000943465] |
Chr2:9490408 [GRCh38]
Chr2:9630537 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.102G>A (p.Lys34=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002066055] |
Chr2:9543281 [GRCh38]
Chr2:9683410 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1851T>C (p.Ala617=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002545979] |
Chr2:9494700 [GRCh38]
Chr2:9634829 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.516C>A (p.Ile172=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001492706] |
Chr2:9527889 [GRCh38]
Chr2:9668018 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.434C>A (p.Ala145Asp) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001061262] |
Chr2:9535850 [GRCh38]
Chr2:9675979 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1658G>C (p.Ser553Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001047751] |
Chr2:9497239 [GRCh38]
Chr2:9637368 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2320G>A (p.Glu774Lys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001058776] |
Chr2:9490332 [GRCh38]
Chr2:9630461 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.446T>C (p.Ile149Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001047803] |
Chr2:9535838 [GRCh38]
Chr2:9675967 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2284A>T (p.Ile762Phe) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001069748] |
Chr2:9490368 [GRCh38]
Chr2:9630497 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2083-60A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001548959]|not provided [RCV001655875]|not specified [RCV003394133] |
Chr2:9491211 [GRCh38]
Chr2:9631340 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.94C>G (p.Leu32Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001053642] |
Chr2:9555512 [GRCh38]
Chr2:9695641 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1894G>A (p.Val632Ile) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001050133]|not provided [RCV002261264] |
Chr2:9494657 [GRCh38]
Chr2:9634786 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1975_1993+4del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001057483] |
Chr2:9493743..9493765 [GRCh38]
Chr2:9633872..9633894 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.2242G>T (p.Ala748Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001052461] |
Chr2:9490410 [GRCh38]
Chr2:9630539 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2446C>T (p.Arg816Cys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001070544] |
Chr2:9490206 [GRCh38]
Chr2:9630335 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1632C>T (p.Gly544=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001497976] |
Chr2:9502189 [GRCh38]
Chr2:9642318 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1830C>T (p.Arg610=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001418961] |
Chr2:9494721 [GRCh38]
Chr2:9634850 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1317T>C (p.Ala439=) |
single nucleotide variant |
ADAM17-related disorder [RCV003912974]|Inflammatory skin and bowel disease, neonatal, 1 [RCV000908673] |
Chr2:9510006 [GRCh38]
Chr2:9650135 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_003183.6(ADAM17):c.435C>T (p.Ala145=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000915906]|not provided [RCV004711405] |
Chr2:9535849 [GRCh38]
Chr2:9675978 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.247C>T (p.Leu83=) |
single nucleotide variant |
not provided [RCV000922367] |
Chr2:9536812 [GRCh38]
Chr2:9676941 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2346C>T (p.Phe782=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000967671]|not provided [RCV001729767]|not specified [RCV001729768] |
Chr2:9490306 [GRCh38]
Chr2:9630435 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_003183.6(ADAM17):c.536A>G (p.Gln179Arg) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000817316] |
Chr2:9527869 [GRCh38]
Chr2:9667998 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1747G>A (p.Glu583Lys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000798121] |
Chr2:9497150 [GRCh38]
Chr2:9637279 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.401A>C (p.Asp134Ala) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000799748] |
Chr2:9535883 [GRCh38]
Chr2:9676012 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1332C>T (p.His444=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001481397] |
Chr2:9509991 [GRCh38]
Chr2:9650120 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2380G>A (p.Asp794Asn) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000807714] |
Chr2:9490272 [GRCh38]
Chr2:9630401 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.529C>T (p.Arg177Cys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000818472] |
Chr2:9527876 [GRCh38]
Chr2:9668005 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1817A>C (p.Asp606Ala) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000798914] |
Chr2:9494734 [GRCh38]
Chr2:9634863 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1192-5dup |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000809580] |
Chr2:9510134..9510135 [GRCh38]
Chr2:9650263..9650264 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001221780]|not provided [RCV000788543] |
Chr2:9517972 [GRCh38]
Chr2:9658101 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1495G>A (p.Asp499Asn) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000797269] |
Chr2:9505215 [GRCh38]
Chr2:9645344 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1327G>A (p.Asp443Asn) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000801193] |
Chr2:9509996 [GRCh38]
Chr2:9650125 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2437C>T (p.Arg813Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004028836]|Inflammatory skin and bowel disease, neonatal, 1 [RCV000815073] |
Chr2:9490215 [GRCh38]
Chr2:9630344 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.59C>G (p.Pro20Arg) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000802510] |
Chr2:9555547 [GRCh38]
Chr2:9695676 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.754-6A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000798922] |
Chr2:9523344 [GRCh38]
Chr2:9663473 [GRCh37]
Chr2:2p25.1 |
likely benign|uncertain significance |
| NM_003183.6(ADAM17):c.179T>C (p.Leu60Pro) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000802850] |
Chr2:9543204 [GRCh38]
Chr2:9683333 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1645del (p.Thr549fs) |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000793588] |
Chr2:9502176 [GRCh38]
Chr2:9642305 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.944A>G (p.Lys315Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004030657]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001067832] |
Chr2:9521216 [GRCh38]
Chr2:9661345 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1993+4G>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000818251] |
Chr2:9493743 [GRCh38]
Chr2:9633872 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1302C>T (p.Val434=) |
single nucleotide variant |
not provided [RCV000897533] |
Chr2:9510021 [GRCh38]
Chr2:9650150 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.232C>G (p.His78Asp) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000961946] |
Chr2:9536827 [GRCh38]
Chr2:9676956 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1718G>A (p.Cys573Tyr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000802364] |
Chr2:9497179 [GRCh38]
Chr2:9637308 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2212C>T (p.Arg738Cys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000803570]|not provided [RCV004721615] |
Chr2:9490440 [GRCh38]
Chr2:9630569 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.89A>G (p.Gln30Arg) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000816875] |
Chr2:9555517 [GRCh38]
Chr2:9695646 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2169G>C (p.Ser723=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000893422] |
Chr2:9490483 [GRCh38]
Chr2:9630612 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1081C>T (p.His361Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004609587]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001045935] |
Chr2:9518124 [GRCh38]
Chr2:9658253 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1545-7_1545-5del |
microsatellite |
ADAM17-related disorder [RCV004731061]|Inflammatory skin and bowel disease, neonatal, 1 [RCV000914461] |
Chr2:9502281..9502283 [GRCh38]
Chr2:9642410..9642412 [GRCh37]
Chr2:2p25.1 |
likely benign|conflicting interpretations of pathogenicity |
| NM_003183.6(ADAM17):c.*61del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001548958]|not provided [RCV001673186]|not specified [RCV003394132] |
Chr2:9490116 [GRCh38]
Chr2:9630245 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1510A>G (p.Ser504Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002562513]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001220760] |
Chr2:9505200 [GRCh38]
Chr2:9645329 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2191C>G (p.Pro731Ala) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001209483] |
Chr2:9490461 [GRCh38]
Chr2:9630590 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2172_2173insA (p.Arg725fs) |
insertion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001223688] |
Chr2:9490479..9490480 [GRCh38]
Chr2:9630608..9630609 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1132A>G (p.Ile378Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001238468] |
Chr2:9517960 [GRCh38]
Chr2:9658089 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1723G>C (p.Asp575His) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001222056] |
Chr2:9497174 [GRCh38]
Chr2:9637303 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2078G>A (p.Cys693Tyr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001314029]|not provided [RCV001092528] |
Chr2:9492902 [GRCh38]
Chr2:9633031 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.773T>C (p.Val258Ala) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001043535] |
Chr2:9523319 [GRCh38]
Chr2:9663448 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.301G>A (p.Gly101Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003241171]|not provided [RCV004691572] |
Chr2:9536758 [GRCh38]
Chr2:9676887 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.957+284T>G |
single nucleotide variant |
not provided [RCV001695483] |
Chr2:9520919 [GRCh38]
Chr2:9661048 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1784-46C>T |
single nucleotide variant |
not provided [RCV001721722] |
Chr2:9494813 [GRCh38]
Chr2:9634942 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.957+260T>C |
single nucleotide variant |
not provided [RCV001619716] |
Chr2:9520943 [GRCh38]
Chr2:9661072 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1545-116G>A |
single nucleotide variant |
not provided [RCV001687500] |
Chr2:9502392 [GRCh38]
Chr2:9642521 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.-154C>A |
single nucleotide variant |
Mycobacterium tuberculosis, susceptibility to [RCV004779132]|not provided [RCV001693323] |
Chr2:9555759 [GRCh38]
Chr2:9695888 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_003183.6(ADAM17):c.957+244A>G |
single nucleotide variant |
not provided [RCV001674753] |
Chr2:9520959 [GRCh38]
Chr2:9661088 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.844-330C>T |
single nucleotide variant |
not provided [RCV001654764] |
Chr2:9521646 [GRCh38]
Chr2:9661775 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.957+278A>G |
single nucleotide variant |
not provided [RCV001686557] |
Chr2:9520925 [GRCh38]
Chr2:9661054 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.183G>A (p.Gln61=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001428754] |
Chr2:9543200 [GRCh38]
Chr2:9683329 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2083-9del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000909981] |
Chr2:9491160 [GRCh38]
Chr2:9631289 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2169G>A (p.Ser723=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003528252] |
Chr2:9490483 [GRCh38]
Chr2:9630612 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2280C>T (p.Asp760=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000907910]|not provided [RCV004711395] |
Chr2:9490372 [GRCh38]
Chr2:9630501 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.958-9C>T |
single nucleotide variant |
not provided [RCV000954592] |
Chr2:9518256 [GRCh38]
Chr2:9658385 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.165A>T (p.Val55=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001491885] |
Chr2:9543218 [GRCh38]
Chr2:9683347 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1192-9A>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000894953] |
Chr2:9510140 [GRCh38]
Chr2:9650269 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2199C>G (p.Pro733=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000908867] |
Chr2:9490453 [GRCh38]
Chr2:9630582 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1783+8del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001444016] |
Chr2:9497106 [GRCh38]
Chr2:9637235 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1192-7C>T |
single nucleotide variant |
not provided [RCV000930832] |
Chr2:9510138 [GRCh38]
Chr2:9650267 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.514A>G (p.Ile172Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001203432] |
Chr2:9527891 [GRCh38]
Chr2:9668020 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2003T>C (p.Leu668Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001205538]|not provided [RCV003886488] |
Chr2:9492977 [GRCh38]
Chr2:9633106 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1345-3A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001245439] |
Chr2:9505368 [GRCh38]
Chr2:9645497 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.958-5C>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000911154]|not provided [RCV004711396] |
Chr2:9518252 [GRCh38]
Chr2:9658381 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1644C>T (p.Cys548=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV000936030] |
Chr2:9502177 [GRCh38]
Chr2:9642306 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1191+233G>A |
single nucleotide variant |
not provided [RCV001621733] |
Chr2:9517668 [GRCh38]
Chr2:9657797 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1345-295G>A |
single nucleotide variant |
not provided [RCV001651683] |
Chr2:9505660 [GRCh38]
Chr2:9645789 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2082+225A>G |
single nucleotide variant |
not provided [RCV001618936] |
Chr2:9492673 [GRCh38]
Chr2:9632802 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1191+203T>C |
single nucleotide variant |
not provided [RCV001677567] |
Chr2:9517698 [GRCh38]
Chr2:9657827 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.451-204_451-203del |
microsatellite |
not provided [RCV001620581] |
Chr2:9528157..9528158 [GRCh38]
Chr2:9668286..9668287 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1344+142T>C |
single nucleotide variant |
not provided [RCV001621271] |
Chr2:9509837 [GRCh38]
Chr2:9649966 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.958-14_958-13del |
deletion |
not provided [RCV001659169] |
Chr2:9518260..9518261 [GRCh38]
Chr2:9658389..9658390 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.958-15_958-13del |
deletion |
not provided [RCV001636164] |
Chr2:9518260..9518262 [GRCh38]
Chr2:9658389..9658391 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.12:g.(?_9490157)_(9555625_?)dup |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001031926] |
Chr2:9630286..9695754 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NC_000002.12:g.(?_9509959)_(9510151_?)dup |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001033170] |
Chr2:9650088..9650280 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1783+158G>C |
single nucleotide variant |
not provided [RCV001652622] |
Chr2:9496956 [GRCh38]
Chr2:9637085 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1345-138G>T |
single nucleotide variant |
not provided [RCV001540983] |
Chr2:9505503 [GRCh38]
Chr2:9645632 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.754-293G>A |
single nucleotide variant |
not provided [RCV001684271] |
Chr2:9523631 [GRCh38]
Chr2:9663760 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.957+249T>C |
single nucleotide variant |
not provided [RCV001708496] |
Chr2:9520954 [GRCh38]
Chr2:9661083 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.957+274G>T |
single nucleotide variant |
not provided [RCV001713273] |
Chr2:9520929 [GRCh38]
Chr2:9661058 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1673C>T (p.Pro558Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001035754] |
Chr2:9497224 [GRCh38]
Chr2:9637353 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2326G>A (p.Gly776Arg) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001035762] |
Chr2:9490326 [GRCh38]
Chr2:9630455 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1649-26T>C |
single nucleotide variant |
not provided [RCV001648292]|not specified [RCV003399451] |
Chr2:9497274 [GRCh38]
Chr2:9637403 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.*290A>G |
single nucleotide variant |
not provided [RCV001690687] |
Chr2:9489887 [GRCh38]
Chr2:9630016 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.958-34dup |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002073200]|not provided [RCV001681623] |
Chr2:9518259..9518260 [GRCh38]
Chr2:9658388..9658389 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2174G>A (p.Arg725His) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001217588] |
Chr2:9490478 [GRCh38]
Chr2:9630607 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2438G>A (p.Arg813His) |
single nucleotide variant |
Inborn genetic diseases [RCV004033288]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001235733] |
Chr2:9490214 [GRCh38]
Chr2:9630343 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2396C>T (p.Pro799Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001068704] |
Chr2:9490256 [GRCh38]
Chr2:9630385 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1114C>G (p.Pro372Ala) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001229688] |
Chr2:9517978 [GRCh38]
Chr2:9658107 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.785A>G (p.Tyr262Cys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001038683] |
Chr2:9523307 [GRCh38]
Chr2:9663436 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1931G>A (p.Arg644Gln) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001230825] |
Chr2:9493809 [GRCh38]
Chr2:9633938 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1914+3_1914+6del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001049408] |
Chr2:9494631..9494634 [GRCh38]
Chr2:9634760..9634763 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1372A>G (p.Ile458Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001054117] |
Chr2:9505338 [GRCh38]
Chr2:9645467 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1985A>G (p.Asn662Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001064753] |
Chr2:9493755 [GRCh38]
Chr2:9633884 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2308T>C (p.Ser770Pro) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001228417] |
Chr2:9490344 [GRCh38]
Chr2:9630473 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1829G>A (p.Arg610His) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001228426] |
Chr2:9494722 [GRCh38]
Chr2:9634851 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.316G>A (p.Glu106Lys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001216374] |
Chr2:9536743 [GRCh38]
Chr2:9676872 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1793dup (p.Asn598fs) |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001063094] |
Chr2:9494757..9494758 [GRCh38]
Chr2:9634886..9634887 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.1684G>A (p.Glu562Lys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001042824] |
Chr2:9497213 [GRCh38]
Chr2:9637342 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.470A>G (p.Asn157Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001332238] |
Chr2:9527935 [GRCh38]
Chr2:9668064 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2450_2471del (p.Val817fs) |
deletion |
Inborn genetic diseases [RCV001266551] |
Chr2:9490181..9490202 [GRCh38]
Chr2:9630310..9630331 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.975A>G (p.Ile325Met) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001348856] |
Chr2:9518230 [GRCh38]
Chr2:9658359 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.957+252A>G |
single nucleotide variant |
not provided [RCV001539703] |
Chr2:9520951 [GRCh38]
Chr2:9661080 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2168C>T (p.Ser723Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001963803] |
Chr2:9490484 [GRCh38]
Chr2:9630613 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.230+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV001266550] |
Chr2:9543152 [GRCh38]
Chr2:9683281 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| NM_003183.6(ADAM17):c.851T>C (p.Ile284Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001291994]|not provided [RCV004698541] |
Chr2:9521309 [GRCh38]
Chr2:9661438 [GRCh37]
Chr2:2p25.1 |
likely pathogenic|uncertain significance |
| NM_003183.6(ADAM17):c.2251G>C (p.Ala751Pro) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001296821] |
Chr2:9490401 [GRCh38]
Chr2:9630530 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.34G>C (p.Val12Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001352207] |
Chr2:9555572 [GRCh38]
Chr2:9695701 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.289G>A (p.Val97Met) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001313258] |
Chr2:9536770 [GRCh38]
Chr2:9676899 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2224G>A (p.Ala742Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001349884] |
Chr2:9490428 [GRCh38]
Chr2:9630557 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.644G>T (p.Arg215Ile) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001315294] |
Chr2:9526220 [GRCh38]
Chr2:9666349 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.230+4A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001372171] |
Chr2:9543149 [GRCh38]
Chr2:9683278 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.321C>T (p.Tyr107=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001391857] |
Chr2:9536738 [GRCh38]
Chr2:9676867 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.796T>C (p.Ser266Pro) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001316379] |
Chr2:9523296 [GRCh38]
Chr2:9663425 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1648+4C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001294757] |
Chr2:9502169 [GRCh38]
Chr2:9642298 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2014A>G (p.Ile672Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001349397] |
Chr2:9492966 [GRCh38]
Chr2:9633095 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.218C>T (p.Ser73Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001371475] |
Chr2:9543165 [GRCh38]
Chr2:9683294 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1746C>T (p.Cys582=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001433782] |
Chr2:9497151 [GRCh38]
Chr2:9637280 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NC_000002.11:g.(?_9650088)_(9650280_?)dup |
duplication |
Inflammatory skin and bowel disease, neonatal 1 [RCV001304611] |
Chr2:9650088..9650280 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.478A>G (p.Lys160Glu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001346400] |
Chr2:9527927 [GRCh38]
Chr2:9668056 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1643G>A (p.Cys548Tyr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001301508] |
Chr2:9502178 [GRCh38]
Chr2:9642307 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.530G>A (p.Arg177His) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001362938] |
Chr2:9527875 [GRCh38]
Chr2:9668004 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.70C>G (p.Pro24Ala) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001351963] |
Chr2:9555536 [GRCh38]
Chr2:9695665 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.362-11T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001336546] |
Chr2:9535933 [GRCh38]
Chr2:9676062 [GRCh37]
Chr2:2p25.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003183.6(ADAM17):c.1066C>T (p.Pro356Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002547052]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001346142] |
Chr2:9518139 [GRCh38]
Chr2:9658268 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1819C>G (p.Leu607Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001341165] |
Chr2:9494732 [GRCh38]
Chr2:9634861 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.110C>A (p.Ser37Tyr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001304250] |
Chr2:9543273 [GRCh38]
Chr2:9683402 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.764T>C (p.Ile255Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001370863] |
Chr2:9523328 [GRCh38]
Chr2:9663457 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.38C>T (p.Pro13Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001317385] |
Chr2:9555568 [GRCh38]
Chr2:9695697 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2464_2466dup (p.Thr822dup) |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001308767] |
Chr2:9490185..9490186 [GRCh38]
Chr2:9630314..9630315 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1274C>T (p.Pro425Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001369973] |
Chr2:9510049 [GRCh38]
Chr2:9650178 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1333G>A (p.Glu445Lys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001366511] |
Chr2:9509990 [GRCh38]
Chr2:9650119 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1417C>T (p.Arg473Cys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001365492] |
Chr2:9505293 [GRCh38]
Chr2:9645422 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1483T>C (p.Tyr495His) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001358874] |
Chr2:9505227 [GRCh38]
Chr2:9645356 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1685A>G (p.Glu562Gly) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001365620] |
Chr2:9497212 [GRCh38]
Chr2:9637341 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1413A>G (p.Gln471=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001454305] |
Chr2:9505297 [GRCh38]
Chr2:9645426 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.97+8C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001458256] |
Chr2:9555501 [GRCh38]
Chr2:9695630 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1299T>C (p.Tyr433=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001488455] |
Chr2:9510024 [GRCh38]
Chr2:9650153 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.27C>T (p.Thr9=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001491681] |
Chr2:9555579 [GRCh38]
Chr2:9695708 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1476C>T (p.Gly492=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001492934] |
Chr2:9505234 [GRCh38]
Chr2:9645363 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.958-25_958-13del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001477704] |
Chr2:9518260..9518272 [GRCh38]
Chr2:9658389..9658401 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.276A>G (p.Gln92=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001481181] |
Chr2:9536783 [GRCh38]
Chr2:9676912 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.408T>C (p.Val136=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001484224] |
Chr2:9535876 [GRCh38]
Chr2:9676005 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1203G>C (p.Leu401=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001493275] |
Chr2:9510120 [GRCh38]
Chr2:9650249 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2240C>T (p.Ser747Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001513894]|not provided [RCV002511094] |
Chr2:9490412 [GRCh38]
Chr2:9630541 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_003183.6(ADAM17):c.1512C>T (p.Ser504=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001493573] |
Chr2:9505198 [GRCh38]
Chr2:9645327 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.192A>G (p.Thr64=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001416450] |
Chr2:9543191 [GRCh38]
Chr2:9683320 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2082+10C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001439338] |
Chr2:9492888 [GRCh38]
Chr2:9633017 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.361+17T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001418417] |
Chr2:9536681 [GRCh38]
Chr2:9676810 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.362-6C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001411902] |
Chr2:9535928 [GRCh38]
Chr2:9676057 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.255A>G (p.Ser85=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001446303] |
Chr2:9536804 [GRCh38]
Chr2:9676933 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.807T>C (p.Asn269=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001397717] |
Chr2:9523285 [GRCh38]
Chr2:9663414 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1192-6C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001418929] |
Chr2:9510137 [GRCh38]
Chr2:9650266 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.309C>T (p.Asn103=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001407911] |
Chr2:9536750 [GRCh38]
Chr2:9676879 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2319C>T (p.Asp773=) |
single nucleotide variant |
ADAM17-related disorder [RCV003930941]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001444489] |
Chr2:9490333 [GRCh38]
Chr2:9630462 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.620-152C>T |
single nucleotide variant |
not provided [RCV001535189] |
Chr2:9526396 [GRCh38]
Chr2:9666525 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.180A>G (p.Leu60=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001445526] |
Chr2:9543203 [GRCh38]
Chr2:9683332 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1191+8_1191+20del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001443102] |
Chr2:9517881..9517893 [GRCh38]
Chr2:9658010..9658022 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1656C>T (p.Ser552=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001481515] |
Chr2:9497241 [GRCh38]
Chr2:9637370 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.462A>G (p.Arg154=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001481619] |
Chr2:9527943 [GRCh38]
Chr2:9668072 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.958-13del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002073326]|not provided [RCV001714939] |
Chr2:9518260 [GRCh38]
Chr2:9658389 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2196G>A (p.Ala732=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001473498] |
Chr2:9490456 [GRCh38]
Chr2:9630585 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1784-4C>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001479352] |
Chr2:9494771 [GRCh38]
Chr2:9634900 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.957+148A>G |
single nucleotide variant |
not provided [RCV001674768] |
Chr2:9521055 [GRCh38]
Chr2:9661184 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.98-282A>G |
single nucleotide variant |
not provided [RCV001669171] |
Chr2:9543567 [GRCh38]
Chr2:9683696 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.844-144G>A |
single nucleotide variant |
not provided [RCV001619634] |
Chr2:9521460 [GRCh38]
Chr2:9661589 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2082+20G>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001454982] |
Chr2:9492878 [GRCh38]
Chr2:9633007 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1602C>T (p.Cys534=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001496240] |
Chr2:9502219 [GRCh38]
Chr2:9642348 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.957+265T>A |
single nucleotide variant |
not provided [RCV001695291] |
Chr2:9520938 [GRCh38]
Chr2:9661067 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2134-14C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001512077]|not provided [RCV004709044] |
Chr2:9490532 [GRCh38]
Chr2:9630661 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2139C>T (p.Val713=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001480516] |
Chr2:9490513 [GRCh38]
Chr2:9630642 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.619+116del |
deletion |
not provided [RCV001608948] |
Chr2:9527670 [GRCh38]
Chr2:9667799 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1545-325C>T |
single nucleotide variant |
not provided [RCV001674694] |
Chr2:9502601 [GRCh38]
Chr2:9642730 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.97+18T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001481349] |
Chr2:9555491 [GRCh38]
Chr2:9695620 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1068C>T (p.Pro356=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001469977] |
Chr2:9518137 [GRCh38]
Chr2:9658266 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2043G>A (p.Leu681=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001497658] |
Chr2:9492937 [GRCh38]
Chr2:9633066 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1404G>A (p.Glu468=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001457340] |
Chr2:9505306 [GRCh38]
Chr2:9645435 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1995A>G (p.Gly665=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001461697] |
Chr2:9492985 [GRCh38]
Chr2:9633114 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.567G>A (p.Val189=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001440525] |
Chr2:9527838 [GRCh38]
Chr2:9667967 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.362-9del |
deletion |
ADAM17-related disorder [RCV003908774]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001496653] |
Chr2:9535931 [GRCh38]
Chr2:9676060 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1824T>C (p.Ser608=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001521688]|not provided [RCV001615208]|not specified [RCV003394107] |
Chr2:9494727 [GRCh38]
Chr2:9634856 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.139T>C (p.Leu47=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001466299] |
Chr2:9543244 [GRCh38]
Chr2:9683373 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.178C>A (p.Leu60Ile) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001398421] |
Chr2:9543205 [GRCh38]
Chr2:9683334 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.207A>G (p.Leu69=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001428056] |
Chr2:9543176 [GRCh38]
Chr2:9683305 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1983C>T (p.Ile661=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001452644] |
Chr2:9493757 [GRCh38]
Chr2:9633886 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2134-11T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001519947] |
Chr2:9490529 [GRCh38]
Chr2:9630658 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_003183.6(ADAM17):c.231-14G>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001733596] |
Chr2:9536842 [GRCh38]
Chr2:9676971 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.373T>A (p.Ser125Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002009398] |
Chr2:9535911 [GRCh38]
Chr2:9676040 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1034T>C (p.Met345Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001945209] |
Chr2:9518171 [GRCh38]
Chr2:9658300 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.64G>T (p.Asp22Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004041687]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001915343] |
Chr2:9555542 [GRCh38]
Chr2:9695671 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2213G>A (p.Arg738His) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001948769] |
Chr2:9490439 [GRCh38]
Chr2:9630568 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1637C>T (p.Ser546Phe) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001948307] |
Chr2:9502184 [GRCh38]
Chr2:9642313 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1914+5G>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001970689] |
Chr2:9494632 [GRCh38]
Chr2:9634761 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2105A>G (p.Tyr702Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002563473]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001987851] |
Chr2:9491129 [GRCh38]
Chr2:9631258 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2188T>C (p.Phe730Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001929321] |
Chr2:9490464 [GRCh38]
Chr2:9630593 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.323C>A (p.Thr108Asn) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001966267] |
Chr2:9536736 [GRCh38]
Chr2:9676865 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1610C>T (p.Ala537Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002005482] |
Chr2:9502211 [GRCh38]
Chr2:9642340 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.161C>T (p.Ser54Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004039628]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001894039] |
Chr2:9543222 [GRCh38]
Chr2:9683351 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.220G>A (p.Ala74Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002020810] |
Chr2:9543163 [GRCh38]
Chr2:9683292 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2288A>G (p.Gln763Arg) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002040718] |
Chr2:9490364 [GRCh38]
Chr2:9630493 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2191C>T (p.Pro731Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001968094] |
Chr2:9490461 [GRCh38]
Chr2:9630590 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.535C>A (p.Gln179Lys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002002779] |
Chr2:9527870 [GRCh38]
Chr2:9667999 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.275A>C (p.Gln92Pro) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001965456] |
Chr2:9536784 [GRCh38]
Chr2:9676913 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1667C>T (p.Pro556Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002041536] |
Chr2:9497230 [GRCh38]
Chr2:9637359 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2416G>T (p.Ala806Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001909985] |
Chr2:9490236 [GRCh38]
Chr2:9630365 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.299A>T (p.Asp100Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003348609]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001913881] |
Chr2:9536760 [GRCh38]
Chr2:9676889 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.948G>A (p.Met316Ile) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001968902] |
Chr2:9521212 [GRCh38]
Chr2:9661341 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.575A>G (p.Glu192Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002554263]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001912579] |
Chr2:9527830 [GRCh38]
Chr2:9667959 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1 |
copy number loss |
not provided [RCV001836520] |
Chr2:8935077..15722794 [GRCh37]
Chr2:2p25.1-24.3 |
uncertain significance |
| NM_003183.6(ADAM17):c.1729A>G (p.Lys577Glu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001944040] |
Chr2:9497168 [GRCh38]
Chr2:9637297 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.571A>C (p.Asn191His) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001941342] |
Chr2:9527834 [GRCh38]
Chr2:9667963 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1118T>A (p.Val373Asp) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001942361] |
Chr2:9517974 [GRCh38]
Chr2:9658103 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.74G>A (p.Gly25Asp) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001884312] |
Chr2:9555532 [GRCh38]
Chr2:9695661 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1139T>C (p.Leu380Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002034918] |
Chr2:9517953 [GRCh38]
Chr2:9658082 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1467_1468del (p.Cys489_Asp490delinsTer) |
microsatellite |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001999991] |
Chr2:9505242..9505243 [GRCh38]
Chr2:9645371..9645372 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.668A>G (p.Asn223Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002001337] |
Chr2:9526196 [GRCh38]
Chr2:9666325 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2195C>T (p.Ala732Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001973377] |
Chr2:9490457 [GRCh38]
Chr2:9630586 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.339C>G (p.Asp113Glu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001930558] |
Chr2:9536720 [GRCh38]
Chr2:9676849 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1442C>T (p.Ser481Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002017781] |
Chr2:9505268 [GRCh38]
Chr2:9645397 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2248G>A (p.Ala750Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002035751] |
Chr2:9490404 [GRCh38]
Chr2:9630533 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2237dup (p.Ser747fs) |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002029301] |
Chr2:9490414..9490415 [GRCh38]
Chr2:9630543..9630544 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2425T>C (p.Phe809Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002046832] |
Chr2:9490227 [GRCh38]
Chr2:9630356 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.395G>A (p.Arg132Lys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001921766] |
Chr2:9535889 [GRCh38]
Chr2:9676018 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.738_740del (p.Thr248del) |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001899143] |
Chr2:9526124..9526126 [GRCh38]
Chr2:9666253..9666255 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2414dup (p.Ala806fs) |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002050922] |
Chr2:9490237..9490238 [GRCh38]
Chr2:9630366..9630367 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2389G>T (p.Asp797Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004968323]|Inflammatory skin and bowel disease, neonatal, 1 [RCV002050826] |
Chr2:9490263 [GRCh38]
Chr2:9630392 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.193C>T (p.His65Tyr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001919496] |
Chr2:9543190 [GRCh38]
Chr2:9683319 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1241A>T (p.Glu414Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001930320] |
Chr2:9510082 [GRCh38]
Chr2:9650211 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2444A>G (p.Asn815Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002027612] |
Chr2:9490208 [GRCh38]
Chr2:9630337 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.433G>A (p.Ala145Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001972023] |
Chr2:9535851 [GRCh38]
Chr2:9675980 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.980A>G (p.Glu327Gly) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001990512] |
Chr2:9518225 [GRCh38]
Chr2:9658354 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2445dup (p.Arg816fs) |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001976119] |
Chr2:9490206..9490207 [GRCh38]
Chr2:9630335..9630336 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.194A>G (p.His65Arg) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001989579] |
Chr2:9543189 [GRCh38]
Chr2:9683318 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.231-3C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001885757] |
Chr2:9536831 [GRCh38]
Chr2:9676960 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.768C>A (p.Asp256Glu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001939776] |
Chr2:9523324 [GRCh38]
Chr2:9663453 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1513G>A (p.Asp505Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002571378]|Inflammatory skin and bowel disease, neonatal, 1 [RCV002018952] |
Chr2:9505197 [GRCh38]
Chr2:9645326 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1344+6T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001994987] |
Chr2:9509973 [GRCh38]
Chr2:9650102 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.230G>C (p.Arg77Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001907144] |
Chr2:9543153 [GRCh38]
Chr2:9683282 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.460A>G (p.Arg154Gly) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001919703] |
Chr2:9527945 [GRCh38]
Chr2:9668074 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1979G>A (p.Ser660Asn) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001975973] |
Chr2:9493761 [GRCh38]
Chr2:9633890 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.143C>T (p.Ser48Phe) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001991706] |
Chr2:9543240 [GRCh38]
Chr2:9683369 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1312A>G (p.Ile438Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001898784] |
Chr2:9510011 [GRCh38]
Chr2:9650140 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.671C>T (p.Thr224Met) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002051457] |
Chr2:9526193 [GRCh38]
Chr2:9666322 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.94C>T (p.Leu32Phe) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001867024] |
Chr2:9555512 [GRCh38]
Chr2:9695641 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.987_988dup (p.Ser330fs) |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001959005] |
Chr2:9518216..9518217 [GRCh38]
Chr2:9658345..9658346 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.2452G>C (p.Asp818His) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001938372] |
Chr2:9490200 [GRCh38]
Chr2:9630329 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.163G>T (p.Val55Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004041897]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001938939] |
Chr2:9543220 [GRCh38]
Chr2:9683349 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.42C>A (p.Phe14Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001959901] |
Chr2:9555564 [GRCh38]
Chr2:9695693 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2465_2466del (p.Thr822fs) |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001981706] |
Chr2:9490186..9490187 [GRCh38]
Chr2:9630315..9630316 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2097T>A (p.Asp699Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004043488]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001933133] |
Chr2:9491137 [GRCh38]
Chr2:9631266 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1880G>A (p.Gly627Glu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV001935905] |
Chr2:9494671 [GRCh38]
Chr2:9634800 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1480A>G (p.Met494Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004968392]|Inflammatory skin and bowel disease, neonatal, 1 [RCV001932564] |
Chr2:9505230 [GRCh38]
Chr2:9645359 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.619+7C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002209078] |
Chr2:9527779 [GRCh38]
Chr2:9667908 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1833T>C (p.Cys611=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002104568] |
Chr2:9494718 [GRCh38]
Chr2:9634847 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1191+8C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002167177] |
Chr2:9517893 [GRCh38]
Chr2:9658022 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.361+16G>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002112017] |
Chr2:9536682 [GRCh38]
Chr2:9676811 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2083-12G>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002148093] |
Chr2:9491163 [GRCh38]
Chr2:9631292 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2028C>T (p.Val676=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002210853] |
Chr2:9492952 [GRCh38]
Chr2:9633081 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2358C>T (p.Ser786=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002192695] |
Chr2:9490294 [GRCh38]
Chr2:9630423 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.958-13_958-12insTG |
insertion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002207336] |
Chr2:9518259..9518260 [GRCh38]
Chr2:9658388..9658389 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.844-17_844-16delinsTT |
indel |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002168156] |
Chr2:9521332..9521333 [GRCh38]
Chr2:9661461..9661462 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1572C>T (p.Asn524=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002089289] |
Chr2:9502249 [GRCh38]
Chr2:9642378 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2134-12A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002071120] |
Chr2:9490530 [GRCh38]
Chr2:9630659 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.362-19A>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002125309] |
Chr2:9535941 [GRCh38]
Chr2:9676070 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.230+9A>G |
single nucleotide variant |
ADAM17-related disorder [RCV003923471]|Inflammatory skin and bowel disease, neonatal, 1 [RCV002165115] |
Chr2:9543144 [GRCh38]
Chr2:9683273 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2031G>A (p.Leu677=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002165317] |
Chr2:9492949 [GRCh38]
Chr2:9633078 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1344+14G>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002113213] |
Chr2:9509965 [GRCh38]
Chr2:9650094 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1365A>G (p.Lys455=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002106523] |
Chr2:9505345 [GRCh38]
Chr2:9645474 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.958-23_958-13del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002153713] |
Chr2:9518260..9518270 [GRCh38]
Chr2:9658389..9658399 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.450+18T>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002108302] |
Chr2:9535816 [GRCh38]
Chr2:9675945 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.362-9dup |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002195364] |
Chr2:9535930..9535931 [GRCh38]
Chr2:9676059..9676060 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1784-19del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002113927] |
Chr2:9494786 [GRCh38]
Chr2:9634915 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.754-21_754-20del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002152747] |
Chr2:9523358..9523359 [GRCh38]
Chr2:9663487..9663488 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.958-24_958-13del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002174913] |
Chr2:9518260..9518271 [GRCh38]
Chr2:9658389..9658400 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.754-4A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002079380] |
Chr2:9523342 [GRCh38]
Chr2:9663471 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.362-19A>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002152687] |
Chr2:9535941 [GRCh38]
Chr2:9676070 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1083T>C (p.His361=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002114503] |
Chr2:9518122 [GRCh38]
Chr2:9658251 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.958-8T>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002078935] |
Chr2:9518255 [GRCh38]
Chr2:9658384 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.672G>T (p.Thr224=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002109462] |
Chr2:9526192 [GRCh38]
Chr2:9666321 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2133+9A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002196531] |
Chr2:9491092 [GRCh38]
Chr2:9631221 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2133+13T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002185217] |
Chr2:9491088 [GRCh38]
Chr2:9631217 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2127C>T (p.His709=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002192736] |
Chr2:9491107 [GRCh38]
Chr2:9631236 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.957+15C>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002113031] |
Chr2:9521188 [GRCh38]
Chr2:9661317 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.654A>G (p.Pro218=) |
single nucleotide variant |
ADAM17-related disorder [RCV003895995]|Inflammatory skin and bowel disease, neonatal, 1 [RCV002151466] |
Chr2:9526210 [GRCh38]
Chr2:9666339 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.451-20G>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002115676] |
Chr2:9527974 [GRCh38]
Chr2:9668103 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.2133+7A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002178933] |
Chr2:9491094 [GRCh38]
Chr2:9631223 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1131T>C (p.Asn377=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002159403] |
Chr2:9517961 [GRCh38]
Chr2:9658090 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.451-15T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002135377] |
Chr2:9527969 [GRCh38]
Chr2:9668098 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.204A>G (p.Thr68=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002199905] |
Chr2:9543179 [GRCh38]
Chr2:9683308 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.72G>A (p.Pro24=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002220716] |
Chr2:9555534 [GRCh38]
Chr2:9695663 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.162G>A (p.Ser54=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002139555] |
Chr2:9543221 [GRCh38]
Chr2:9683350 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2390del (p.Asp797fs) |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002221389] |
Chr2:9490262 [GRCh38]
Chr2:9630391 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2134-23_2134-20del |
microsatellite |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002200692] |
Chr2:9490538..9490541 [GRCh38]
Chr2:9630667..9630670 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.450+17A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002163261] |
Chr2:9535817 [GRCh38]
Chr2:9675946 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.97+17G>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002118936] |
Chr2:9555492 [GRCh38]
Chr2:9695621 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2134-27CAAT[3] |
microsatellite |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002103379] |
Chr2:9490537..9490538 [GRCh38]
Chr2:9630666..9630667 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1545-14C>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002199686] |
Chr2:9502290 [GRCh38]
Chr2:9642419 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2166A>G (p.Ala722=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002154075] |
Chr2:9490486 [GRCh38]
Chr2:9630615 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2223T>C (p.Pro741=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002182689] |
Chr2:9490429 [GRCh38]
Chr2:9630558 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.27C>A (p.Thr9=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002181266] |
Chr2:9555579 [GRCh38]
Chr2:9695708 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2010C>T (p.Asp670=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002159738] |
Chr2:9492970 [GRCh38]
Chr2:9633099 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1344+13C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002098221] |
Chr2:9509966 [GRCh38]
Chr2:9650095 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.230+17A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002179778] |
Chr2:9543136 [GRCh38]
Chr2:9683265 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.672G>A (p.Thr224=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002179646] |
Chr2:9526192 [GRCh38]
Chr2:9666321 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.75C>T (p.Gly25=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002217568] |
Chr2:9555531 [GRCh38]
Chr2:9695660 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1544+15C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002142530] |
Chr2:9505151 [GRCh38]
Chr2:9645280 [GRCh37]
Chr2:2p25.1 |
benign |
| NC_000002.11:g.(?_7968276)_(10192634_?)del |
deletion |
not provided [RCV003109738] |
Chr2:7968276..10192634 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NC_000002.11:g.(?_7968276)_(10192634_?)dup |
duplication |
not provided [RCV003109740] |
Chr2:7968276..10192634 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NC_000002.12:g.9557243A>C |
single nucleotide variant |
Mycobacterium tuberculosis, susceptibility to [RCV004780729] |
Chr2:9557243 [GRCh38]
Chr2:9697372 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NC_000002.11:g.(?_9645275)_(9650280_?)del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003113230] |
Chr2:9645275..9650280 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NC_000002.11:g.(?_9663358)_(9666393_?)del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003113231] |
Chr2:9663358..9666393 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NC_000002.12:g.9557042A>G |
single nucleotide variant |
Mycobacterium tuberculosis, susceptibility to [RCV004780733] |
Chr2:9557042 [GRCh38]
Chr2:9697171 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2227C>G (p.Pro743Ala) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003118643] |
Chr2:9490425 [GRCh38]
Chr2:9630554 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1915-21ATGT[3] |
microsatellite |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003118910] |
Chr2:9493838..9493839 [GRCh38]
Chr2:9633967..9633968 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1344+1G>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002283667] |
Chr2:9509978 [GRCh38]
Chr2:9650107 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 |
copy number gain |
not provided [RCV002473946] |
Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3 |
pathogenic |
| NM_003183.6(ADAM17):c.1093T>G (p.Cys365Gly) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002301911] |
Chr2:9518112 [GRCh38]
Chr2:9658241 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.754-20T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003015752] |
Chr2:9523358 [GRCh38]
Chr2:9663487 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1146T>C (p.Ser382=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002967715] |
Chr2:9517946 [GRCh38]
Chr2:9658075 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1494C>T (p.Asn498=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002993964] |
Chr2:9505216 [GRCh38]
Chr2:9645345 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1401G>A (p.Gln467=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002750588] |
Chr2:9505309 [GRCh38]
Chr2:9645438 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.628C>T (p.His210Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002687074] |
Chr2:9526236 [GRCh38]
Chr2:9666365 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1860G>T (p.Lys620Asn) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002995886] |
Chr2:9494691 [GRCh38]
Chr2:9634820 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.546A>C (p.Lys182Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002907467] |
Chr2:9527859 [GRCh38]
Chr2:9667988 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1344+12T>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003017525] |
Chr2:9509967 [GRCh38]
Chr2:9650096 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2082+4A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002995995] |
Chr2:9492894 [GRCh38]
Chr2:9633023 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.794C>G (p.Thr265Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002840216] |
Chr2:9523298 [GRCh38]
Chr2:9663427 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2025T>C (p.Ser675=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002838474] |
Chr2:9492955 [GRCh38]
Chr2:9633084 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1677A>C (p.Gly559=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002750395] |
Chr2:9497220 [GRCh38]
Chr2:9637349 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.873A>G (p.Val291=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003016333] |
Chr2:9521287 [GRCh38]
Chr2:9661416 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.61C>T (p.Pro21Ser) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002775196] |
Chr2:9555545 [GRCh38]
Chr2:9695674 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1544+2T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003016905] |
Chr2:9505164 [GRCh38]
Chr2:9645293 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| NM_003183.6(ADAM17):c.2019T>C (p.Val673=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002755333] |
Chr2:9492961 [GRCh38]
Chr2:9633090 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.13C>G (p.Leu5Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003017112] |
Chr2:9555593 [GRCh38]
Chr2:9695722 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1418G>A (p.Arg473His) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002995165] |
Chr2:9505292 [GRCh38]
Chr2:9645421 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.727G>A (p.Glu243Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002817027] |
Chr2:9526137 [GRCh38]
Chr2:9666266 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1914+14T>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003014124] |
Chr2:9494623 [GRCh38]
Chr2:9634752 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2383C>G (p.Leu795Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002976375] |
Chr2:9490269 [GRCh38]
Chr2:9630398 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2083-18_2083-16del |
microsatellite |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002913065] |
Chr2:9491167..9491169 [GRCh38]
Chr2:9631296..9631298 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1110T>C (p.Tyr370=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002785807] |
Chr2:9517982 [GRCh38]
Chr2:9658111 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2082+12A>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002571880] |
Chr2:9492886 [GRCh38]
Chr2:9633015 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1839C>T (p.Pro613=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002620835] |
Chr2:9494712 [GRCh38]
Chr2:9634841 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2219_2220delinsCA (p.Gln740Pro) |
indel |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002910018] |
Chr2:9490432..9490433 [GRCh38]
Chr2:9630561..9630562 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1118T>G (p.Val373Gly) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002843956] |
Chr2:9517974 [GRCh38]
Chr2:9658103 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2122T>C (p.Phe708Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002823706] |
Chr2:9491112 [GRCh38]
Chr2:9631241 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.903A>G (p.Ala301=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002620263] |
Chr2:9521257 [GRCh38]
Chr2:9661386 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2411A>G (p.Glu804Gly) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003035992] |
Chr2:9490241 [GRCh38]
Chr2:9630370 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2113_2114del (p.Leu705fs) |
microsatellite |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002621911] |
Chr2:9491120..9491121 [GRCh38]
Chr2:9631249..9631250 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1965C>A (p.Phe655Leu) |
single nucleotide variant |
ADAM17-related disorder [RCV003410038]|Inflammatory skin and bowel disease, neonatal, 1 [RCV003038867] |
Chr2:9493775 [GRCh38]
Chr2:9633904 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1915-15_1915-14insA |
insertion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002780516] |
Chr2:9493839..9493840 [GRCh38]
Chr2:9633968..9633969 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1754A>T (p.Glu585Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003002161] |
Chr2:9497143 [GRCh38]
Chr2:9637272 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.523G>A (p.Val175Ile) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002740039] |
Chr2:9527882 [GRCh38]
Chr2:9668011 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1300G>A (p.Val434Ile) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002846518] |
Chr2:9510023 [GRCh38]
Chr2:9650152 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1784-20A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003078757] |
Chr2:9494787 [GRCh38]
Chr2:9634916 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.562A>G (p.Lys188Glu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002895059] |
Chr2:9527843 [GRCh38]
Chr2:9667972 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.787C>T (p.Arg263Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002826886] |
Chr2:9523305 [GRCh38]
Chr2:9663434 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1696G>T (p.Val566Phe) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002791058] |
Chr2:9497201 [GRCh38]
Chr2:9637330 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.619+1del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003008253] |
Chr2:9527785 [GRCh38]
Chr2:9667914 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.43G>A (p.Val15Met) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002575566] |
Chr2:9555563 [GRCh38]
Chr2:9695692 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2136C>T (p.Asn712=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002766527] |
Chr2:9490516 [GRCh38]
Chr2:9630645 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.362-18T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002985460] |
Chr2:9535940 [GRCh38]
Chr2:9676069 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.97+15del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002800784] |
Chr2:9555494 [GRCh38]
Chr2:9695623 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.512A>T (p.Asp171Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003022341] |
Chr2:9527893 [GRCh38]
Chr2:9668022 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.97+12G>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002642959] |
Chr2:9555497 [GRCh38]
Chr2:9695626 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2397G>A (p.Pro799=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003056555] |
Chr2:9490255 [GRCh38]
Chr2:9630384 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1784-16G>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002982227] |
Chr2:9494783 [GRCh38]
Chr2:9634912 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1951C>T (p.Arg651Ter) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002596847] |
Chr2:9493789 [GRCh38]
Chr2:9633918 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.1143T>C (p.Asn381=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003025969] |
Chr2:9517949 [GRCh38]
Chr2:9658078 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.451-5T>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002801295] |
Chr2:9527959 [GRCh38]
Chr2:9668088 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1573dup (p.Cys525fs) |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002626140] |
Chr2:9502247..9502248 [GRCh38]
Chr2:9642376..9642377 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.1055A>G (p.Tyr352Cys) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002985714] |
Chr2:9518150 [GRCh38]
Chr2:9658279 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1631G>C (p.Gly544Ala) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002596757] |
Chr2:9502190 [GRCh38]
Chr2:9642319 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.492G>A (p.Met164Ile) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003010429] |
Chr2:9527913 [GRCh38]
Chr2:9668042 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1568A>C (p.Lys523Thr) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002938580] |
Chr2:9502253 [GRCh38]
Chr2:9642382 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.844-6G>A |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003030942] |
Chr2:9521322 [GRCh38]
Chr2:9661451 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1512C>G (p.Ser504Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002939638] |
Chr2:9505198 [GRCh38]
Chr2:9645327 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1103-12T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003065813] |
Chr2:9518001 [GRCh38]
Chr2:9658130 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.361+13C>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003047570] |
Chr2:9536685 [GRCh38]
Chr2:9676814 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.958-26_958-13del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003086396] |
Chr2:9518260..9518273 [GRCh38]
Chr2:9658389..9658402 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1621A>G (p.Thr541Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004068433]|Inflammatory skin and bowel disease, neonatal, 1 [RCV003011104] |
Chr2:9502200 [GRCh38]
Chr2:9642329 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.591A>C (p.Lys197Asn) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002577846] |
Chr2:9527814 [GRCh38]
Chr2:9667943 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.205C>G (p.Leu69Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002988712] |
Chr2:9543178 [GRCh38]
Chr2:9683307 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1191+20A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003061493] |
Chr2:9517881 [GRCh38]
Chr2:9658010 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1192-20T>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002899107] |
Chr2:9510151 [GRCh38]
Chr2:9650280 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.888G>A (p.Lys296=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002631873] |
Chr2:9521272 [GRCh38]
Chr2:9661401 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1915-17_1915-14del |
microsatellite |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003009290] |
Chr2:9493839..9493842 [GRCh38]
Chr2:9633968..9633971 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.869A>G (p.Glu290Gly) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003091695] |
Chr2:9521291 [GRCh38]
Chr2:9661420 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.258T>C (p.Ser86=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002791944] |
Chr2:9536801 [GRCh38]
Chr2:9676930 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.276A>C (p.Gln92His) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003030538] |
Chr2:9536783 [GRCh38]
Chr2:9676912 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1133T>A (p.Ile378Asn) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002746395] |
Chr2:9517959 [GRCh38]
Chr2:9658088 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.141A>G (p.Leu47=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002725426] |
Chr2:9543242 [GRCh38]
Chr2:9683371 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1902T>C (p.Phe634=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002943147] |
Chr2:9494649 [GRCh38]
Chr2:9634778 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1995A>T (p.Gly665=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003070935] |
Chr2:9492985 [GRCh38]
Chr2:9633114 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1846G>A (p.Asp616Asn) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003051411] |
Chr2:9494705 [GRCh38]
Chr2:9634834 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2308_2309del (p.Ser770fs) |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV002612949] |
Chr2:9490343..9490344 [GRCh38]
Chr2:9630472..9630473 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2121G>C (p.Leu707=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003092593] |
Chr2:9491113 [GRCh38]
Chr2:9631242 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1204G>A (p.Val402Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004610276] |
Chr2:9510119 [GRCh38]
Chr2:9650248 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.946A>T (p.Met316Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003370286] |
Chr2:9521214 [GRCh38]
Chr2:9661343 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2047T>C (p.Phe683Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003372155] |
Chr2:9492933 [GRCh38]
Chr2:9633062 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2256A>C (p.Pro752=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003875267] |
Chr2:9490396 [GRCh38]
Chr2:9630525 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2106T>C (p.Tyr702=) |
single nucleotide variant |
not provided [RCV003425505] |
Chr2:9491128 [GRCh38]
Chr2:9631257 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2268C>G (p.His756Gln) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003527684] |
Chr2:9490384 [GRCh38]
Chr2:9630513 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2083-12_2083-11del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003527905] |
Chr2:9491162..9491163 [GRCh38]
Chr2:9631291..9631292 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NC_000002.12:g.9523337_9523340del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003527892] |
Chr2:9523334..9523337 [GRCh38]
Chr2:9663463..9663466 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.843+11A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003528598] |
Chr2:9523238 [GRCh38]
Chr2:9663367 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1305_1306del (p.Met435fs) |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003529655] |
Chr2:9510017..9510018 [GRCh38]
Chr2:9650146..9650147 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.1530A>G (p.Glu510=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003529624] |
Chr2:9505180 [GRCh38]
Chr2:9645309 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1103-20_1103-19del |
microsatellite |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003642866] |
Chr2:9518008..9518009 [GRCh38]
Chr2:9658137..9658138 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1477A>G (p.Ile493Val) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003528518] |
Chr2:9505233 [GRCh38]
Chr2:9645362 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.362-16T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643283] |
Chr2:9535938 [GRCh38]
Chr2:9676067 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2049T>C (p.Phe683=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643294] |
Chr2:9492931 [GRCh38]
Chr2:9633060 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1845C>T (p.Val615=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003878628] |
Chr2:9494706 [GRCh38]
Chr2:9634835 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.361+19G>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003644347] |
Chr2:9536679 [GRCh38]
Chr2:9676808 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1192-14G>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003644128] |
Chr2:9510145 [GRCh38]
Chr2:9650274 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.558T>C (p.Tyr186=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643334] |
Chr2:9527847 [GRCh38]
Chr2:9667976 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.844-4A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003529015] |
Chr2:9521320 [GRCh38]
Chr2:9661449 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1151del (p.Gly383_Leu384insTer) |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643679] |
Chr2:9517941 [GRCh38]
Chr2:9658070 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.228A>G (p.Lys76=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643692] |
Chr2:9543155 [GRCh38]
Chr2:9683284 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.98-408A>G |
single nucleotide variant |
not specified [RCV003489236] |
Chr2:9543693 [GRCh38]
Chr2:9683822 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1015dup (p.Thr339fs) |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643963] |
Chr2:9518189..9518190 [GRCh38]
Chr2:9658318..9658319 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.1230T>C (p.Asn410=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643984] |
Chr2:9510093 [GRCh38]
Chr2:9650222 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1239A>T (p.Ala413=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003827160] |
Chr2:9510084 [GRCh38]
Chr2:9650213 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1192-12A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643450] |
Chr2:9510143 [GRCh38]
Chr2:9650272 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.843+15A>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643160] |
Chr2:9523234 [GRCh38]
Chr2:9663363 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2241G>A (p.Ser747=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643391] |
Chr2:9490411 [GRCh38]
Chr2:9630540 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1844T>G (p.Val615Gly) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643434] |
Chr2:9494707 [GRCh38]
Chr2:9634836 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.288C>G (p.Val96=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643262] |
Chr2:9536771 [GRCh38]
Chr2:9676900 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.619+14A>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643622] |
Chr2:9527772 [GRCh38]
Chr2:9667901 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.843+10A>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643883] |
Chr2:9523239 [GRCh38]
Chr2:9663368 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.678A>G (p.Lys226=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643645] |
Chr2:9526186 [GRCh38]
Chr2:9666315 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1914+12T>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643873] |
Chr2:9494625 [GRCh38]
Chr2:9634754 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1014C>T (p.Phe338=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643964] |
Chr2:9518191 [GRCh38]
Chr2:9658320 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1344+1G>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643979] |
Chr2:9509978 [GRCh38]
Chr2:9650107 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| NM_003183.6(ADAM17):c.1735A>C (p.Ile579Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643884] |
Chr2:9497162 [GRCh38]
Chr2:9637291 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.620-5A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003644067] |
Chr2:9526249 [GRCh38]
Chr2:9666378 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1971C>T (p.Asp657=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003642575] |
Chr2:9493769 [GRCh38]
Chr2:9633898 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1701C>T (p.Cys567=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003644264] |
Chr2:9497196 [GRCh38]
Chr2:9637325 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.361+1G>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003644283] |
Chr2:9536697 [GRCh38]
Chr2:9676826 [GRCh37]
Chr2:2p25.1 |
likely pathogenic |
| NM_003183.6(ADAM17):c.1914+13G>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003642659] |
Chr2:9494624 [GRCh38]
Chr2:9634753 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1284C>T (p.Asp428=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003644485] |
Chr2:9510039 [GRCh38]
Chr2:9650168 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.661A>T (p.Met221Leu) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003644397] |
Chr2:9526203 [GRCh38]
Chr2:9666332 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1251G>A (p.Pro417=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003644482] |
Chr2:9510072 [GRCh38]
Chr2:9650201 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.180A>T (p.Leu60=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003828364] |
Chr2:9543203 [GRCh38]
Chr2:9683332 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.126C>T (p.Tyr42=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003643129] |
Chr2:9543257 [GRCh38]
Chr2:9683386 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1191+19A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003875997] |
Chr2:9517882 [GRCh38]
Chr2:9658011 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1980C>T (p.Ser660=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003642825] |
Chr2:9493760 [GRCh38]
Chr2:9633889 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1915-9del |
deletion |
ADAM17-related disorder [RCV004756551]|Inflammatory skin and bowel disease, neonatal, 1 [RCV003839576] |
Chr2:9493834 [GRCh38]
Chr2:9633963 [GRCh37]
Chr2:2p25.1 |
benign|likely benign |
| NM_003183.6(ADAM17):c.1695T>A (p.Thr565=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003856464] |
Chr2:9497202 [GRCh38]
Chr2:9637331 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1649-3del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003833795] |
Chr2:9497251 [GRCh38]
Chr2:9637380 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1649-4C>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003833796] |
Chr2:9497252 [GRCh38]
Chr2:9637381 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.870G>A (p.Glu290=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003817108] |
Chr2:9521290 [GRCh38]
Chr2:9661419 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2133+8T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003814221] |
Chr2:9491093 [GRCh38]
Chr2:9631222 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1908C>T (p.Asp636=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003861988] |
Chr2:9494643 [GRCh38]
Chr2:9634772 [GRCh37]
Chr2:2p25.1 |
likely benign |
| GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3 |
copy number gain |
not specified [RCV003986320] |
Chr2:6375088..23538518 [GRCh37]
Chr2:2p25.2-24.1 |
pathogenic |
| NM_003183.6(ADAM17):c.208C>T (p.Leu70=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003862689] |
Chr2:9543175 [GRCh38]
Chr2:9683304 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.60T>G (p.Pro20=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003848617] |
Chr2:9555546 [GRCh38]
Chr2:9695675 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1521G>A (p.Thr507=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003822709] |
Chr2:9505189 [GRCh38]
Chr2:9645318 [GRCh37]
Chr2:2p25.1 |
likely benign |
| GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 |
copy number gain |
See cases [RCV004442780] |
Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3 |
pathogenic |
| NM_003183.6(ADAM17):c.2405G>C (p.Arg802Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004439164] |
Chr2:9490247 [GRCh38]
Chr2:9630376 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.605G>A (p.Arg202Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004439187] |
Chr2:9527800 [GRCh38]
Chr2:9667929 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1992T>C (p.Phe664=) |
single nucleotide variant |
ADAM17-related disorder [RCV003981701] |
Chr2:9493748 [GRCh38]
Chr2:9633877 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.958-9C>G |
single nucleotide variant |
ADAM17-related disorder [RCV003911446] |
Chr2:9518256 [GRCh38]
Chr2:9658385 [GRCh37]
Chr2:2p25.1 |
likely benign |
| Single allele |
deletion |
Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures [RCV003992113] |
Chr2:9444569..9551273 [GRCh38]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.1712G>A (p.Gly571Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004612261] |
Chr2:9497185 [GRCh38]
Chr2:9637314 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1599G>C (p.Lys533Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004612277] |
Chr2:9502222 [GRCh38]
Chr2:9642351 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2302A>G (p.Thr768Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004612288] |
Chr2:9490350 [GRCh38]
Chr2:9630479 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.1076A>G (p.Asn359Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004610271] |
Chr2:9518129 [GRCh38]
Chr2:9658258 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.46C>T (p.Leu16=) |
single nucleotide variant |
not provided [RCV004811418] |
Chr2:9555560 [GRCh38]
Chr2:9695689 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.308dup (p.Asn103fs) |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005000542] |
Chr2:9536750..9536751 [GRCh38]
Chr2:9676879..9676880 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.601G>A (p.Asp201Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004972726] |
Chr2:9527804 [GRCh38]
Chr2:9667933 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.715A>G (p.Met239Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004972725] |
Chr2:9526149 [GRCh38]
Chr2:9666278 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.2133+20G>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005137279] |
Chr2:9491081 [GRCh38]
Chr2:9631210 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1254T>C (p.Asp418=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005132465] |
Chr2:9510069 [GRCh38]
Chr2:9650198 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.36T>A (p.Val12=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005125913] |
Chr2:9555570 [GRCh38]
Chr2:9695699 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1914+8T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005139283] |
Chr2:9494629 [GRCh38]
Chr2:9634758 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1649-17C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005139496] |
Chr2:9497265 [GRCh38]
Chr2:9637394 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1352C>G (p.Ser451Ter) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005142994] |
Chr2:9505358 [GRCh38]
Chr2:9645487 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.1008C>T (p.His336=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005110499] |
Chr2:9518197 [GRCh38]
Chr2:9658326 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.753+20T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005128779] |
Chr2:9526091 [GRCh38]
Chr2:9666220 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1993+18A>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005087212] |
Chr2:9493729 [GRCh38]
Chr2:9633858 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.843+4T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005121882] |
Chr2:9523245 [GRCh38]
Chr2:9663374 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.843+18T>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005106670] |
Chr2:9523231 [GRCh38]
Chr2:9663360 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.243A>G (p.Leu81=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005173231] |
Chr2:9536816 [GRCh38]
Chr2:9676945 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.753+14A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005153022] |
Chr2:9526097 [GRCh38]
Chr2:9666226 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1497C>T (p.Asp499=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005149873] |
Chr2:9505213 [GRCh38]
Chr2:9645342 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1649-8G>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005153589] |
Chr2:9497256 [GRCh38]
Chr2:9637385 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.230+13A>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005182922] |
Chr2:9543140 [GRCh38]
Chr2:9683269 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2287C>T (p.Gln763Ter) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005164145] |
Chr2:9490365 [GRCh38]
Chr2:9630494 [GRCh37]
Chr2:2p25.1 |
uncertain significance |
| NM_003183.6(ADAM17):c.753+12del |
deletion |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005072974] |
Chr2:9526099 [GRCh38]
Chr2:9666228 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2214C>T (p.Arg738=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005073488] |
Chr2:9490438 [GRCh38]
Chr2:9630567 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.324T>C (p.Thr108=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005163809] |
Chr2:9536735 [GRCh38]
Chr2:9676864 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.230+13A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005171852] |
Chr2:9543140 [GRCh38]
Chr2:9683269 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.432G>C (p.Gly144=) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005146744] |
Chr2:9535852 [GRCh38]
Chr2:9675981 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.631C>T (p.Arg211Ter) |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005072158] |
Chr2:9526233 [GRCh38]
Chr2:9666362 [GRCh37]
Chr2:2p25.1 |
pathogenic |
| NM_003183.6(ADAM17):c.958-20T>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005153590] |
Chr2:9518267 [GRCh38]
Chr2:9658396 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.450+7T>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005170324] |
Chr2:9535827 [GRCh38]
Chr2:9675956 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.2082+11A>C |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005163955] |
Chr2:9492887 [GRCh38]
Chr2:9633016 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1915-9dup |
duplication |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005180032] |
Chr2:9493833..9493834 [GRCh38]
Chr2:9633962..9633963 [GRCh37]
Chr2:2p25.1 |
benign |
| NM_003183.6(ADAM17):c.1345-6C>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005069385] |
Chr2:9505371 [GRCh38]
Chr2:9645500 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.620-17A>G |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV005190083] |
Chr2:9526261 [GRCh38]
Chr2:9666390 [GRCh37]
Chr2:2p25.1 |
likely benign |
| NM_003183.6(ADAM17):c.1784-17C>T |
single nucleotide variant |
Inflammatory skin and bowel disease, neonatal, 1 [RCV003642804] |
Chr2:9494784 [GRCh38]
Chr2:9634913 [GRCh37]
Chr2:2p25.1 |
likely benign |
