ClinVar Miner

List of variants reported as pathogenic for acromesomelic dysplasia

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro) rs28936683 0.00001
NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter) rs121912739 0.00001
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter) rs1057519324 0.00001
NM_003995.4(NPR2):c.2245C>T (p.Arg749Trp) rs61758531 0.00001
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln) rs780293535 0.00001
NM_003995.4(NPR2):c.2341C>T (p.Gln781Ter) rs768852284 0.00001
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met) rs1311857509 0.00001
GDF5, 22-BP DUP
GRCh37/hg19 9p13.3(chr9:35799615-35808850)
NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln) rs121909350
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr) rs74315387
NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr) rs121909351
NM_000557.5(GDF5):c.297dup (p.Arg100fs) rs761962752
NM_000557.5(GDF5):c.404del (p.Pro135fs) rs2146582931
NM_000557.5(GDF5):c.[1309_1311del;1315T>A1319A>T]
NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg) rs863225041
NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs) rs863223287
NM_001203.3(BMPR1B):c.402_405del (p.Cys135fs)
NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser) rs1553941890
NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter) rs863225042
NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys) rs745854387
NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter) rs767258629
NM_003995.4(NPR2):c.1092del (p.Ile364fs) rs879255257
NM_003995.4(NPR2):c.1111C>T (p.Arg371Ter) rs1828094222
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln) rs1828106198
NM_003995.4(NPR2):c.1215del (p.Gln406fs) rs1828107536
NM_003995.4(NPR2):c.1257G>A (p.Trp419Ter)
NM_003995.4(NPR2):c.125_126insTGGCG (p.Trp42fs) rs2132066161
NM_003995.4(NPR2):c.14C>A (p.Ser5Ter) rs749952755
NM_003995.4(NPR2):c.1511C>G (p.Ser504Ter)
NM_003995.4(NPR2):c.1699G>T (p.Glu567Ter) rs2132082975
NM_003995.4(NPR2):c.1758del (p.Ala585_Cys586insTer) rs1057519334
NM_003995.4(NPR2):c.1801C>A (p.Arg601Ser)
NM_003995.4(NPR2):c.1887+2T>A rs1828226013
NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter) rs1828356952
NM_003995.4(NPR2):c.2221C>T (p.Arg741Ter) rs2132090998
NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter) rs753472316
NM_003995.4(NPR2):c.2302T>C (p.Cys768Arg) rs1057519333
NM_003995.4(NPR2):c.2424T>G (p.Tyr808Ter)
NM_003995.4(NPR2):c.2527del (p.Ala843fs) rs1588068987
NM_003995.4(NPR2):c.2738dup (p.Met913fs)
NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter) rs1554674642
NM_003995.4(NPR2):c.2845C>T (p.Arg949Ter) rs1452208078
NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn) rs1057519336
NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln) rs771373457
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu) rs771373457
NM_003995.4(NPR2):c.343T>G (p.Trp115Gly) rs28931582
NM_003995.4(NPR2):c.448G>A (p.Gly150Ser) rs2132066800
NM_003995.4(NPR2):c.507del (p.Tyr170fs) rs2132066904
NM_003995.4(NPR2):c.528T>A (p.Asp176Glu) rs28929479
NM_003995.4(NPR2):c.560T>A (p.Val187Asp) rs1057519335
NM_003995.4(NPR2):c.60del (p.Ala22fs) rs2132066003
NM_003995.4(NPR2):c.613C>T (p.Arg205Ter) rs1180840764
NM_003995.4(NPR2):c.721C>T (p.Gln241Ter)
NM_003995.4(NPR2):c.748del (p.Tyr250fs) rs1827867580
NM_003995.4(NPR2):c.844C>T (p.Gln282Ter)
NM_003995.4(NPR2):c.94C>A (p.Pro32Thr) rs28931581
NM_006259.3(PRKG2):c.1154+1G>A rs995285513
NM_006259.3(PRKG2):c.1705C>T (p.Arg569Ter) rs1291510415
NM_006259.3(PRKG2):c.491dup (p.Asn164fs) rs2110087773

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