NM_001611.5(ACP5):c.266C>T (p.Thr89Ile) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000022705] |
Chr19:11576839 [GRCh38] Chr19:11687654 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000022706] |
Chr19:11576311 [GRCh38] Chr19:11687126 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.791T>A (p.Met264Lys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000022707] |
Chr19:11575197 [GRCh38] Chr19:11686012 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_001611.5(ACP5):c.831_833del (p.Tyr278del) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV000022710] |
Chr19:11575155..11575157 [GRCh38] Chr19:11685970..11685972 [GRCh37] Chr19:19p13.2 |
pathogenic|uncertain significance |
NM_001611.5(ACP5):c.602T>C (p.Leu201Pro) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000022711] |
Chr19:11576376 [GRCh38] Chr19:11687191 [GRCh37] Chr19:19p13.2 |
pathogenic|uncertain significance |
NM_001611.5(ACP5):c.643G>C (p.Gly215Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000022708] |
Chr19:11576335 [GRCh38] Chr19:11687150 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) |
single nucleotide variant |
ACP5-related disorder [RCV003421931]|Inborn genetic diseases [RCV000624296]|Spondyloenchondrodysplasia with immune dysregulation [RCV000022709] |
Chr19:11576780 [GRCh38] Chr19:11687595 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic |
NM_001611.5(ACP5):c.245A>G (p.Asn82Ser) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000543872] |
Chr19:11577073 [GRCh38] Chr19:11687888 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.276C>T (p.Asp92=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000560827]|not provided [RCV004717654] |
Chr19:11576829 [GRCh38] Chr19:11687644 [GRCh37] Chr19:19p13.2 |
benign |
NM_001611.5(ACP5):c.855T>C (p.Thr285=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000548882]|not provided [RCV001653895] |
Chr19:11575133 [GRCh38] Chr19:11685948 [GRCh37] Chr19:19p13.2 |
benign |
NM_001611.5(ACP5):c.661G>A (p.Val221Ile) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000544535]|not provided [RCV001572880]|not specified [RCV001702504] |
Chr19:11576317 [GRCh38] Chr19:11687132 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001611.5(ACP5):c.693C>T (p.Tyr231=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000557211] |
Chr19:11576285 [GRCh38] Chr19:11687100 [GRCh37] Chr19:19p13.2 |
benign |
GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 |
copy number gain |
See cases [RCV000052908] |
Chr19:8831147..13331227 [GRCh38] Chr19:8941823..13442041 [GRCh37] Chr19:8802823..13303041 [NCBI36] Chr19:19p13.2-13.13 |
likely pathogenic |
GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 |
copy number gain |
See cases [RCV000052909] |
Chr19:10315258..14048994 [GRCh38] Chr19:10425934..14159806 [GRCh37] Chr19:10286934..14020806 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
GRCh38/hg38 19p13.2-13.12(chr19:11227942-14532135)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053944]|See cases [RCV000053944] |
Chr19:11227942..14532135 [GRCh38] Chr19:11338618..14642947 [GRCh37] Chr19:11199618..14503947 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1 |
copy number loss |
See cases [RCV000053945] |
Chr19:11517825..13225287 [GRCh38] Chr19:11628640..13336101 [GRCh37] Chr19:11489640..13197101 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) |
single nucleotide variant |
ACP5-related disorder [RCV003955090]|Spondyloenchondrodysplasia with immune dysregulation [RCV000537794]|not provided [RCV000514245]|not specified [RCV000179812] |
Chr19:11575174 [GRCh38] Chr19:11685989 [GRCh37] Chr19:19p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 |
copy number gain |
See cases [RCV000133888] |
Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1 |
copy number loss |
See cases [RCV000136909] |
Chr19:11525163..14155021 [GRCh38] Chr19:11635978..14265833 [GRCh37] Chr19:11496978..14126833 [NCBI36] Chr19:19p13.2-13.12 |
pathogenic |
GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 |
copy number loss |
See cases [RCV000141568] |
Chr19:10319474..13777860 [GRCh38] Chr19:10430150..13888674 [GRCh37] Chr19:10291150..13749674 [NCBI36] Chr19:19p13.2-13.13 |
pathogenic |
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000210945]|not provided [RCV002223820] |
Chr19:11577187 [GRCh38] Chr19:11688002 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_001611.5(ACP5):c.816dup (p.Lys273fs) |
duplication |
Spondyloenchondrodysplasia with immune dysregulation [RCV000210950] |
Chr19:11575171..11575172 [GRCh38] Chr19:11685986..11685987 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV000210955] |
Chr19:11575198..11575216 [GRCh38] Chr19:11686013..11686031 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic |
NM_001611.5(ACP5):c.543C>A (p.Ala181=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001078878]|not provided [RCV000179369] |
Chr19:11576435 [GRCh38] Chr19:11687250 [GRCh37] Chr19:19p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001611.5(ACP5):c.598G>A (p.Val200Met) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001522650]|not provided [RCV001539664]|not specified [RCV000245115] |
Chr19:11576380 [GRCh38] Chr19:11687195 [GRCh37] Chr19:19p13.2 |
benign |
NM_001611.5(ACP5):c.225C>T (p.Phe75=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001522652]|not provided [RCV001711555]|not specified [RCV000248093] |
Chr19:11577093 [GRCh38] Chr19:11687908 [GRCh37] Chr19:19p13.2 |
benign |
NM_001611.5(ACP5):c.442G>A (p.Val148Met) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001522651]|not provided [RCV001651151]|not specified [RCV000253285] |
Chr19:11576536 [GRCh38] Chr19:11687351 [GRCh37] Chr19:19p13.2 |
benign |
NM_001611.5(ACP5):c.127C>T (p.His43Tyr) |
single nucleotide variant |
not provided [RCV000380639] |
Chr19:11577191 [GRCh38] Chr19:11688006 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.299G>A (p.Arg100His) |
single nucleotide variant |
ACP5-related disorder [RCV003938100]|Spondyloenchondrodysplasia with immune dysregulation [RCV000960520]|not provided [RCV004704200]|not specified [RCV000728906] |
Chr19:11576806 [GRCh38] Chr19:11687621 [GRCh37] Chr19:19p13.2 |
likely benign |
GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426) |
copy number gain |
See cases [RCV000446985] |
Chr19:9678768..14853426 [GRCh37] Chr19:19p13.2-13.12 |
pathogenic |
GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3 |
copy number gain |
See cases [RCV000511013] |
Chr19:11608072..14543046 [GRCh37] Chr19:19p13.2-13.12 |
uncertain significance |
NM_001611.5(ACP5):c.386G>A (p.Arg129His) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000532055] |
Chr19:11576719 [GRCh38] Chr19:11687534 [GRCh37] Chr19:19p13.2 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
NM_001611.5(ACP5):c.743A>G (p.Gln248Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003300990] |
Chr19:11575245 [GRCh38] Chr19:11686060 [GRCh37] Chr19:19p13.2 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_001611.5(ACP5):c.137G>A (p.Arg46Gln) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000531109] |
Chr19:11577181 [GRCh38] Chr19:11687996 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001611.5(ACP5):c.738C>A (p.Tyr246Ter) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000640594]|not provided [RCV001766374] |
Chr19:11575250 [GRCh38] Chr19:11686065 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_001611.5(ACP5):c.861C>T (p.Asp287=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000640595]|not provided [RCV004717696] |
Chr19:11575127 [GRCh38] Chr19:11685942 [GRCh37] Chr19:19p13.2 |
benign |
NM_001611.5(ACP5):c.601C>T (p.Leu201=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000640596]|not provided [RCV000996764] |
Chr19:11576377 [GRCh38] Chr19:11687192 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000622352]|Spondyloenchondrodysplasia with immune dysregulation [RCV002283498] |
Chr19:11576452 [GRCh38] Chr19:11687267 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.238G>A (p.Asp80Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002544744]|Spondyloenchondrodysplasia with immune dysregulation [RCV000686302] |
Chr19:11577080 [GRCh38] Chr19:11687895 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.14C>T (p.Thr5Met) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000701843] |
Chr19:11577304 [GRCh38] Chr19:11688119 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.167G>A (p.Arg56Gln) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000703324] |
Chr19:11577151 [GRCh38] Chr19:11687966 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.643G>A (p.Gly215Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000694951]|not provided [RCV002510960] |
Chr19:11576335 [GRCh38] Chr19:11687150 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic |
NM_001611.5(ACP5):c.290G>A (p.Arg97His) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000695790] |
Chr19:11576815 [GRCh38] Chr19:11687630 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.469A>G (p.Thr157Ala) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000706171] |
Chr19:11576509 [GRCh38] Chr19:11687324 [GRCh37] Chr19:19p13.2 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
NM_001611.5(ACP5):c.545G>A (p.Arg182His) |
single nucleotide variant |
Inborn genetic diseases [RCV004030675]|Spondyloenchondrodysplasia with immune dysregulation [RCV001068408] |
Chr19:11576433 [GRCh38] Chr19:11687248 [GRCh37] Chr19:19p13.2 |
uncertain significance |
GRCh37/hg19 19p13.2(chr19:11667844-11780171)x1 |
copy number loss |
not provided [RCV001007033] |
Chr19:11667844..11780171 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.731T>C (p.Leu244Pro) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001045331] |
Chr19:11576247 [GRCh38] Chr19:11687062 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.955C>T (p.Leu319=) |
single nucleotide variant |
ACP5-related disorder [RCV003948343]|Spondyloenchondrodysplasia with immune dysregulation [RCV000884132] |
Chr19:11575033 [GRCh38] Chr19:11685848 [GRCh37] Chr19:19p13.2 |
benign|likely benign |
NM_001611.5(ACP5):c.621C>T (p.Pro207=) |
single nucleotide variant |
ACP5-related disorder [RCV003970698]|Spondyloenchondrodysplasia with immune dysregulation [RCV001443954] |
Chr19:11576357 [GRCh38] Chr19:11687172 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.860A>C (p.Asp287Ala) |
single nucleotide variant |
ACP5-related disorder [RCV003962826]|Spondyloenchondrodysplasia with immune dysregulation [RCV000966327] |
Chr19:11575128 [GRCh38] Chr19:11685943 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.964C>T (p.Arg322Ter) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001052020] |
Chr19:11575024 [GRCh38] Chr19:11685839 [GRCh37] Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001611.5(ACP5):c.15G>T (p.Thr5=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002536809] |
Chr19:11577303 [GRCh38] Chr19:11688118 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.132G>A (p.Thr44=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000961610]|not provided [RCV004704375] |
Chr19:11577186 [GRCh38] Chr19:11688001 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.30G>T (p.Leu10=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000960532] |
Chr19:11577288 [GRCh38] Chr19:11688103 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.971G>A (p.Arg324Lys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000819431] |
Chr19:11575017 [GRCh38] Chr19:11685832 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.149A>G (p.Asn50Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002537154]|Spondyloenchondrodysplasia with immune dysregulation [RCV000803148] |
Chr19:11577169 [GRCh38] Chr19:11687984 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.637G>C (p.Glu213Gln) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000936196] |
Chr19:11576341 [GRCh38] Chr19:11687156 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.316G>A (p.Val106Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002534829]|Spondyloenchondrodysplasia with immune dysregulation [RCV000806559]|not provided [RCV002290451] |
Chr19:11576789 [GRCh38] Chr19:11687604 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.587G>A (p.Arg196Lys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000791659] |
Chr19:11576391 [GRCh38] Chr19:11687206 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.79C>T (p.Arg27Cys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000818588] |
Chr19:11577239 [GRCh38] Chr19:11688054 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.921C>G (p.Ile307Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004962816]|Spondyloenchondrodysplasia with immune dysregulation [RCV000803657] |
Chr19:11575067 [GRCh38] Chr19:11685882 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.846C>G (p.His282Gln) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000813226] |
Chr19:11575142 [GRCh38] Chr19:11685957 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.971G>T (p.Arg324Met) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000813227] |
Chr19:11575017 [GRCh38] Chr19:11685832 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.16G>A (p.Ala6Thr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000817493] |
Chr19:11577302 [GRCh38] Chr19:11688117 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.398C>G (p.Pro133Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000802214] |
Chr19:11576580 [GRCh38] Chr19:11687395 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.163G>A (p.Ala55Thr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000793506] |
Chr19:11577155 [GRCh38] Chr19:11687970 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.369C>A (p.Tyr123Ter) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001862699]|not provided [RCV001091770] |
Chr19:11576736 [GRCh38] Chr19:11687551 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.805C>T (p.Arg269Trp) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000792233]|not provided [RCV002280141] |
Chr19:11575183 [GRCh38] Chr19:11685998 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.829G>A (p.Gly277Ser) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000792697]|not provided [RCV004692244] |
Chr19:11575159 [GRCh38] Chr19:11685974 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.766G>C (p.Val256Leu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000795826] |
Chr19:11575222 [GRCh38] Chr19:11686037 [GRCh37] Chr19:19p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
Single allele |
deletion |
not provided [RCV000844961] |
Chr19:10642984..12810067 [GRCh37] Chr19:19p13.2 |
not provided |
NM_001611.5(ACP5):c.495T>C (p.Asp165=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000915303] |
Chr19:11576483 [GRCh38] Chr19:11687298 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.625_626del (p.Trp209fs) |
microsatellite |
Spondyloenchondrodysplasia with immune dysregulation [RCV000990151] |
Chr19:11576352..11576353 [GRCh38] Chr19:11687167..11687168 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.17C>T (p.Ala6Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002563708]|Spondyloenchondrodysplasia with immune dysregulation [RCV001228683] |
Chr19:11577301 [GRCh38] Chr19:11688116 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001611.5(ACP5):c.824C>T (p.Pro275Leu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001223563] |
Chr19:11575164 [GRCh38] Chr19:11685979 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.410A>G (p.Tyr137Cys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001241772]|not provided [RCV001751480] |
Chr19:11576568 [GRCh38] Chr19:11687383 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.44_65del (p.Leu15fs) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV001226079] |
Chr19:11577253..11577274 [GRCh38] Chr19:11688068..11688089 [GRCh37] Chr19:19p13.2 |
pathogenic |
NC_000019.9:g.(?_11685825)_(11688132_?)del |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV003105414] |
Chr19:11685825..11688132 [GRCh37] Chr19:19p13.2 |
pathogenic |
NC_000019.9:g.(?_11277234)_(13249220_?)dup |
duplication |
not provided [RCV003105511] |
Chr19:11277234..13249220 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.735+218C>T |
single nucleotide variant |
not provided [RCV001598402] |
Chr19:11576025 [GRCh38] Chr19:11686840 [GRCh37] Chr19:19p13.2 |
benign |
NM_001611.5(ACP5):c.516T>A (p.Pro172=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000919730] |
Chr19:11576462 [GRCh38] Chr19:11687277 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.522G>A (p.Arg174=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000907431] |
Chr19:11576456 [GRCh38] Chr19:11687271 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.828C>T (p.Asn276=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV000930104] |
Chr19:11575160 [GRCh38] Chr19:11685975 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.646C>A (p.Pro216Thr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001223472] |
Chr19:11576332 [GRCh38] Chr19:11687147 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.815G>A (p.Arg272His) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001243646] |
Chr19:11575173 [GRCh38] Chr19:11685988 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.694G>A (p.Gly232Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001221749] |
Chr19:11576284 [GRCh38] Chr19:11687099 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.261+55G>A |
single nucleotide variant |
not provided [RCV001621151] |
Chr19:11577002 [GRCh38] Chr19:11687817 [GRCh37] Chr19:19p13.2 |
benign |
GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3 |
copy number gain |
not provided [RCV001007032] |
Chr19:11445773..12160664 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.61G>C (p.Gly21Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001043846] |
Chr19:11577257 [GRCh38] Chr19:11688072 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.735+315G>A |
single nucleotide variant |
not provided [RCV001637274] |
Chr19:11575928 [GRCh38] Chr19:11686743 [GRCh37] Chr19:19p13.2 |
benign |
NM_001611.5(ACP5):c.-53A>G |
single nucleotide variant |
not provided [RCV001621725] |
Chr19:11577645 [GRCh38] Chr19:11688460 [GRCh37] Chr19:19p13.2 |
benign |
NC_000019.10:g.(?_11574990)_(11577337_?)dup |
duplication |
Spondyloenchondrodysplasia with immune dysregulation [RCV001031628] |
Chr19:11685805..11688152 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.652C>T (p.His218Tyr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001038443] |
Chr19:11576326 [GRCh38] Chr19:11687141 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.578C>A (p.Ala193Glu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001211971] |
Chr19:11576400 [GRCh38] Chr19:11687215 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.757G>A (p.Val253Met) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001061098] |
Chr19:11575231 [GRCh38] Chr19:11686046 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.838C>T (p.Arg280Cys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001233695] |
Chr19:11575150 [GRCh38] Chr19:11685965 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.673C>T (p.Arg225Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002563788]|Spondyloenchondrodysplasia with immune dysregulation [RCV001233098] |
Chr19:11576305 [GRCh38] Chr19:11687120 [GRCh37] Chr19:19p13.2 |
uncertain significance |
GRCh37/hg19 19p13.2(chr19:10642984-12810067) |
copy number loss |
not provided [RCV001249213] |
Chr19:10642984..12810067 [GRCh37] Chr19:19p13.2 |
not provided |
NM_001611.5(ACP5):c.91G>A (p.Val31Met) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001228789] |
Chr19:11577227 [GRCh38] Chr19:11688042 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.249C>G (p.Asp83Glu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001212203] |
Chr19:11577069 [GRCh38] Chr19:11687884 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.632T>C (p.Ile211Thr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001214543] |
Chr19:11576346 [GRCh38] Chr19:11687161 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.950C>G (p.Thr317Ser) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001054493] |
Chr19:11575038 [GRCh38] Chr19:11685853 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.715G>A (p.Gly239Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002553779]|Spondyloenchondrodysplasia with immune dysregulation [RCV001054702] |
Chr19:11576263 [GRCh38] Chr19:11687078 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.544C>T (p.Arg182Cys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001050624] |
Chr19:11576434 [GRCh38] Chr19:11687249 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.261+6T>C |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001230676] |
Chr19:11577051 [GRCh38] Chr19:11687866 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.277G>A (p.Val93Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002553823]|Spondyloenchondrodysplasia with immune dysregulation [RCV001057168] |
Chr19:11576828 [GRCh38] Chr19:11687643 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.529G>A (p.Asp177Asn) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001211158] |
Chr19:11576449 [GRCh38] Chr19:11687264 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.736-2A>G |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001332836] |
Chr19:11575254 [GRCh38] Chr19:11686069 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.413G>A (p.Arg138His) |
single nucleotide variant |
Inborn genetic diseases [RCV004035879]|Spondyloenchondrodysplasia with immune dysregulation [RCV001338989] |
Chr19:11576565 [GRCh38] Chr19:11687380 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001611.5(ACP5):c.262-14T>C |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001334779] |
Chr19:11576857 [GRCh38] Chr19:11687672 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.47C>A (p.Pro16His) |
single nucleotide variant |
Inborn genetic diseases [RCV004035134]|Spondyloenchondrodysplasia with immune dysregulation [RCV001324493] |
Chr19:11577271 [GRCh38] Chr19:11688086 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.527G>A (p.Arg176Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003298559]|Spondyloenchondrodysplasia with immune dysregulation [RCV001358844] |
Chr19:11576451 [GRCh38] Chr19:11687266 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.914C>T (p.Thr305Ile) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001370822] |
Chr19:11575074 [GRCh38] Chr19:11685889 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.872G>A (p.Gly291Asp) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001359991] |
Chr19:11575116 [GRCh38] Chr19:11685931 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.720C>T (p.His240=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001415280] |
Chr19:11576258 [GRCh38] Chr19:11687073 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.682C>G (p.Leu228Val) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001334780] |
Chr19:11576296 [GRCh38] Chr19:11687111 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.136C>T (p.Arg46Trp) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001362074] |
Chr19:11577182 [GRCh38] Chr19:11687997 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.804G>T (p.Lys268Asn) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001345677] |
Chr19:11575184 [GRCh38] Chr19:11685999 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.919A>T (p.Ile307Phe) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001318436] |
Chr19:11575069 [GRCh38] Chr19:11685884 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.517G>A (p.Glu173Lys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001301396] |
Chr19:11576461 [GRCh38] Chr19:11687276 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.542C>A (p.Ala181Asp) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001317696] |
Chr19:11576436 [GRCh38] Chr19:11687251 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.393C>G (p.Asn131Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004035119]|Spondyloenchondrodysplasia with immune dysregulation [RCV001324106] |
Chr19:11576585 [GRCh38] Chr19:11687400 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.851G>A (p.Gly284Glu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001344053] |
Chr19:11575137 [GRCh38] Chr19:11685952 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.619C>A (p.Pro207Thr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001350078] |
Chr19:11576359 [GRCh38] Chr19:11687174 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.622G>A (p.Val208Met) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001297374] |
Chr19:11576356 [GRCh38] Chr19:11687171 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.477A>C (p.Thr159=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001413177] |
Chr19:11576501 [GRCh38] Chr19:11687316 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.611G>A (p.Gly204Asp) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001368785] |
Chr19:11576367 [GRCh38] Chr19:11687182 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.68C>T (p.Thr23Ile) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001326040] |
Chr19:11577250 [GRCh38] Chr19:11688065 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.839G>A (p.Arg280His) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001325726] |
Chr19:11575149 [GRCh38] Chr19:11685964 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.421T>G (p.Phe141Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002547727]|Spondyloenchondrodysplasia with immune dysregulation [RCV001359654] |
Chr19:11576557 [GRCh38] Chr19:11687372 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.735+18G>A |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001501858] |
Chr19:11576225 [GRCh38] Chr19:11687040 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.678A>C (p.Pro226=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001435741] |
Chr19:11576300 [GRCh38] Chr19:11687115 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.351C>T (p.Val117=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001482576] |
Chr19:11576754 [GRCh38] Chr19:11687569 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.714C>T (p.Cys238=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001478840] |
Chr19:11576264 [GRCh38] Chr19:11687079 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.315C>T (p.Tyr105=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001503418] |
Chr19:11576790 [GRCh38] Chr19:11687605 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.327A>G (p.Gly109=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001393325] |
Chr19:11576778 [GRCh38] Chr19:11687593 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.582G>A (p.Ala194=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001424800] |
Chr19:11576396 [GRCh38] Chr19:11687211 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.733C>T (p.Gln245Ter) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001386586] |
Chr19:11576245 [GRCh38] Chr19:11687060 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.257del (p.Phe86fs) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV001388705] |
Chr19:11577061 [GRCh38] Chr19:11687876 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.597C>T (p.Tyr199=) |
single nucleotide variant |
Inborn genetic diseases [RCV004038038]|Spondyloenchondrodysplasia with immune dysregulation [RCV001408412] |
Chr19:11576381 [GRCh38] Chr19:11687196 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.1-68C>T |
single nucleotide variant |
not provided [RCV001670749] |
Chr19:11577385 [GRCh38] Chr19:11688200 [GRCh37] Chr19:19p13.2 |
benign |
NM_001611.5(ACP5):c.480A>G (p.Leu160=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001495960] |
Chr19:11576498 [GRCh38] Chr19:11687313 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.262-15A>G |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001452523] |
Chr19:11576858 [GRCh38] Chr19:11687673 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.381C>T (p.Ser127=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001477418] |
Chr19:11576724 [GRCh38] Chr19:11687539 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001111034.3(ACP5):c.-88+242A>G |
single nucleotide variant |
not provided [RCV001669825] |
Chr19:11578343 [GRCh38] Chr19:11689158 [GRCh37] Chr19:19p13.2 |
benign |
NM_001611.5(ACP5):c.390-11C>G |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001516852] |
Chr19:11576599 [GRCh38] Chr19:11687414 [GRCh37] Chr19:19p13.2 |
benign |
NC_000019.9:g.(?_11685805)_(11688152_?)del |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV001385269] |
Chr19:11685805..11688152 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.279A>G (p.Val93=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001416385] |
Chr19:11576826 [GRCh38] Chr19:11687641 [GRCh37] Chr19:19p13.2 |
likely benign |
GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3 |
copy number gain |
not provided [RCV001834267] |
Chr19:9941033..11739567 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.100T>C (p.Trp34Arg) |
single nucleotide variant |
not provided [RCV001754910] |
Chr19:11577218 [GRCh38] Chr19:11688033 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NC_000019.9:g.(?_10828919)_(13482613_?)dup |
duplication |
Charcot-Marie-Tooth disease dominant intermediate B [RCV003109233]|Deficiency of alpha-mannosidase [RCV003109232]|Episodic ataxia type 2 [RCV003109234]|Glutaric aciduria, type 1 [RCV003122092] |
Chr19:10828919..13482613 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.289C>T (p.Arg97Cys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002025587] |
Chr19:11576816 [GRCh38] Chr19:11687631 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.965G>A (p.Arg322Gln) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001966400] |
Chr19:11575023 [GRCh38] Chr19:11685838 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.375_376insTA (p.Ile126Ter) |
insertion |
Spondyloenchondrodysplasia with immune dysregulation [RCV001896863] |
Chr19:11576729..11576730 [GRCh38] Chr19:11687544..11687545 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.736-3C>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001863651] |
Chr19:11575255 [GRCh38] Chr19:11686070 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NC_000019.9:g.(?_11685825)_(11688132_?)dup |
duplication |
Spondyloenchondrodysplasia with immune dysregulation [RCV002043297] |
Chr19:11685825..11688132 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.406T>C (p.Phe136Leu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001949115] |
Chr19:11576572 [GRCh38] Chr19:11687387 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.13A>G (p.Thr5Ala) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001988774] |
Chr19:11577305 [GRCh38] Chr19:11688120 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.832T>C (p.Tyr278His) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001984307] |
Chr19:11575156 [GRCh38] Chr19:11685971 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.854C>T (p.Thr285Ile) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002039500] |
Chr19:11575134 [GRCh38] Chr19:11685949 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.604G>C (p.Val202Leu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001985913] |
Chr19:11576374 [GRCh38] Chr19:11687189 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.80G>A (p.Arg27His) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001985175] |
Chr19:11577238 [GRCh38] Chr19:11688053 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.331C>T (p.His111Tyr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001910077] |
Chr19:11576774 [GRCh38] Chr19:11687589 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.973C>T (p.Pro325Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004970461]|Spondyloenchondrodysplasia with immune dysregulation [RCV001908927] |
Chr19:11575015 [GRCh38] Chr19:11685830 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.766G>A (p.Val256Met) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002042244] |
Chr19:11575222 [GRCh38] Chr19:11686037 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.1A>G (p.Met1Val) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001943895] |
Chr19:11577317 [GRCh38] Chr19:11688132 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.548C>G (p.Thr183Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001905512] |
Chr19:11576430 [GRCh38] Chr19:11687245 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.340C>T (p.Leu114Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002553474]|Spondyloenchondrodysplasia with immune dysregulation [RCV001897782] |
Chr19:11576765 [GRCh38] Chr19:11687580 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.361del (p.Ile121fs) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV001999723] |
Chr19:11576744 [GRCh38] Chr19:11687559 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.500T>C (p.Phe167Ser) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002035159] |
Chr19:11576478 [GRCh38] Chr19:11687293 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.266_272del (p.Thr89fs) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV002037747] |
Chr19:11576833..11576839 [GRCh38] Chr19:11687648..11687654 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.97G>A (p.Asp33Asn) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001999675]|not specified [RCV004690228] |
Chr19:11577221 [GRCh38] Chr19:11688036 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.262-20G>A |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001956363] |
Chr19:11576863 [GRCh38] Chr19:11687678 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.964C>G (p.Arg322Gly) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001937447] |
Chr19:11575024 [GRCh38] Chr19:11685839 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.434A>T (p.Gln145Leu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001962641] |
Chr19:11576544 [GRCh38] Chr19:11687359 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.758T>C (p.Val253Ala) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002031576] |
Chr19:11575230 [GRCh38] Chr19:11686045 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.736-7T>A |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002039174] |
Chr19:11575259 [GRCh38] Chr19:11686074 [GRCh37] Chr19:19p13.2 |
likely benign|uncertain significance |
NM_001611.5(ACP5):c.799del (p.Ser267fs) |
deletion |
ACP5-related disorder [RCV004756330]|Spondyloenchondrodysplasia with immune dysregulation [RCV001942203] |
Chr19:11575189 [GRCh38] Chr19:11686004 [GRCh37] Chr19:19p13.2 |
pathogenic|likely pathogenic |
NM_001611.5(ACP5):c.781G>T (p.Gly261Trp) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002030751] |
Chr19:11575207 [GRCh38] Chr19:11686022 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.259del (p.Gln87fs) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV001902500] |
Chr19:11577059 [GRCh38] Chr19:11687874 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.418C>T (p.His140Tyr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001979283]|not specified [RCV002469443] |
Chr19:11576560 [GRCh38] Chr19:11687375 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.775G>A (p.Gly259Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001881717] |
Chr19:11575213 [GRCh38] Chr19:11686028 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.136del (p.Arg46fs) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV001957731] |
Chr19:11577182 [GRCh38] Chr19:11687997 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.871G>C (p.Gly291Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001954929] |
Chr19:11575117 [GRCh38] Chr19:11685932 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.712T>C (p.Cys238Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001951243] |
Chr19:11576266 [GRCh38] Chr19:11687081 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.383A>G (p.Lys128Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001878542] |
Chr19:11576722 [GRCh38] Chr19:11687537 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.222C>A (p.Tyr74Ter) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001898909] |
Chr19:11577096 [GRCh38] Chr19:11687911 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.334G>A (p.Asp112Asn) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002012620]|not provided [RCV002274245] |
Chr19:11576771 [GRCh38] Chr19:11687586 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.806G>A (p.Arg269Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002561411]|Spondyloenchondrodysplasia with immune dysregulation [RCV001940932] |
Chr19:11575182 [GRCh38] Chr19:11685997 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001975827]|not provided [RCV004694067] |
Chr19:11575029 [GRCh38] Chr19:11685844 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.526del (p.Arg176fs) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV001875223] |
Chr19:11576452 [GRCh38] Chr19:11687267 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.166C>T (p.Arg56Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002608074]|Spondyloenchondrodysplasia with immune dysregulation [RCV001980985] |
Chr19:11577152 [GRCh38] Chr19:11687967 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.848A>G (p.Tyr283Cys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002029191] |
Chr19:11575140 [GRCh38] Chr19:11685955 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.581C>T (p.Ala194Val) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001932187] |
Chr19:11576397 [GRCh38] Chr19:11687212 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.721G>A (p.Asp241Asn) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002014054] |
Chr19:11576257 [GRCh38] Chr19:11687072 [GRCh37] Chr19:19p13.2 |
pathogenic|uncertain significance |
NM_001611.5(ACP5):c.191A>G (p.Asp64Gly) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001936830] |
Chr19:11577127 [GRCh38] Chr19:11687942 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.85G>A (p.Val29Ile) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002046187] |
Chr19:11577233 [GRCh38] Chr19:11688048 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.46C>A (p.Pro16Thr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV001993884] |
Chr19:11577272 [GRCh38] Chr19:11688087 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.909T>C (p.Thr303=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002208652] |
Chr19:11575079 [GRCh38] Chr19:11685894 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.783G>A (p.Gly261=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002189665] |
Chr19:11575205 [GRCh38] Chr19:11686020 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.780T>C (p.Ala260=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002085278] |
Chr19:11575208 [GRCh38] Chr19:11686023 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.390-11C>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002186398] |
Chr19:11576599 [GRCh38] Chr19:11687414 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.963G>A (p.Arg321=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002206710] |
Chr19:11575025 [GRCh38] Chr19:11685840 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.438C>T (p.Thr146=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002188815] |
Chr19:11576540 [GRCh38] Chr19:11687355 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.417G>A (p.Leu139=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002197207] |
Chr19:11576561 [GRCh38] Chr19:11687376 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.579G>A (p.Ala193=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002092777] |
Chr19:11576399 [GRCh38] Chr19:11687214 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.735+7G>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002175000] |
Chr19:11576236 [GRCh38] Chr19:11687051 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.777G>T (p.Gly259=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002150230] |
Chr19:11575211 [GRCh38] Chr19:11686026 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.735+8C>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002095158] |
Chr19:11576235 [GRCh38] Chr19:11687050 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.420C>T (p.His140=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002158262] |
Chr19:11576558 [GRCh38] Chr19:11687373 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.660G>C (p.Leu220=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002118930] |
Chr19:11576318 [GRCh38] Chr19:11687133 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.663C>G (p.Val221=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002083189] |
Chr19:11576315 [GRCh38] Chr19:11687130 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.585C>G (p.Ala195=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002154224] |
Chr19:11576393 [GRCh38] Chr19:11687208 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.642C>T (p.His214=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002141678] |
Chr19:11576336 [GRCh38] Chr19:11687151 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.330C>T (p.Asn110=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002202579] |
Chr19:11576775 [GRCh38] Chr19:11687590 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.636C>T (p.Ala212=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002178258] |
Chr19:11576342 [GRCh38] Chr19:11687157 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.354T>C (p.Ser118=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002199380] |
Chr19:11576751 [GRCh38] Chr19:11687566 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.15G>A (p.Thr5=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002140505] |
Chr19:11577303 [GRCh38] Chr19:11688118 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.756C>T (p.Gly252=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002199726] |
Chr19:11575232 [GRCh38] Chr19:11686047 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.825C>A (p.Pro275=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002201129] |
Chr19:11575163 [GRCh38] Chr19:11685978 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.765C>T (p.Tyr255=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002202920] |
Chr19:11575223 [GRCh38] Chr19:11686038 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.389+15G>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002121086] |
Chr19:11576701 [GRCh38] Chr19:11687516 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.567G>T (p.Lys189Asn) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003113087] |
Chr19:11576411 [GRCh38] Chr19:11687226 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.710_718del (p.Leu237_Gly239del) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV003117885] |
Chr19:11576260..11576268 [GRCh38] Chr19:11687075..11687083 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.772A>C (p.Ser258Arg) |
single nucleotide variant |
See cases [RCV002287740]|not provided [RCV003418440] |
Chr19:11575216 [GRCh38] Chr19:11686031 [GRCh37] Chr19:19p13.2 |
likely pathogenic|uncertain significance |
NM_001611.5(ACP5):c.617A>G (p.Tyr206Cys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002304513] |
Chr19:11576361 [GRCh38] Chr19:11687176 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.920T>A (p.Ile307Asn) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002299387] |
Chr19:11575068 [GRCh38] Chr19:11685883 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.262-15_262-12del |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV002776520] |
Chr19:11576855..11576858 [GRCh38] Chr19:11687670..11687673 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.188C>T (p.Ala63Val) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002972566] |
Chr19:11577130 [GRCh38] Chr19:11687945 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.654_658del (p.Cys219fs) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV002881254] |
Chr19:11576320..11576324 [GRCh38] Chr19:11687135..11687139 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.672_673inv (p.Arg225Trp) |
inversion |
Spondyloenchondrodysplasia with immune dysregulation [RCV002816579] |
Chr19:11576305..11576306 [GRCh38] Chr19:11687120..11687121 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.389+9C>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002618052] |
Chr19:11576707 [GRCh38] Chr19:11687522 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.622G>T (p.Val208Leu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002690394] |
Chr19:11576356 [GRCh38] Chr19:11687171 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.658C>T (p.Leu220=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003074152] |
Chr19:11576320 [GRCh38] Chr19:11687135 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.930G>A (p.Ser310=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002750523] |
Chr19:11575058 [GRCh38] Chr19:11685873 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.883G>A (p.Val295Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002858894] |
Chr19:11575105 [GRCh38] Chr19:11685920 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.736-6C>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002862167] |
Chr19:11575258 [GRCh38] Chr19:11686073 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.130A>G (p.Thr44Ala) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003003016] |
Chr19:11577188 [GRCh38] Chr19:11688003 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.372dup (p.Lys125Ter) |
duplication |
Spondyloenchondrodysplasia with immune dysregulation [RCV002572194] |
Chr19:11576732..11576733 [GRCh38] Chr19:11687547..11687548 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.389+13C>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002824536] |
Chr19:11576703 [GRCh38] Chr19:11687518 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.298C>T (p.Arg100Cys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002785616] |
Chr19:11576807 [GRCh38] Chr19:11687622 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.366A>C (p.Ala122=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002847619] |
Chr19:11576739 [GRCh38] Chr19:11687554 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.578C>T (p.Ala193Val) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002696061] |
Chr19:11576400 [GRCh38] Chr19:11687215 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.60T>C (p.Asp20=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002928000] |
Chr19:11577258 [GRCh38] Chr19:11688073 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.970A>G (p.Arg324Gly) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002736504] |
Chr19:11575018 [GRCh38] Chr19:11685833 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.702T>G (p.Thr234=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003079431] |
Chr19:11576276 [GRCh38] Chr19:11687091 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.90C>T (p.Ala30=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003079593] |
Chr19:11577228 [GRCh38] Chr19:11688043 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.459T>C (p.Phe153=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002619333] |
Chr19:11576519 [GRCh38] Chr19:11687334 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.583G>A (p.Ala195Thr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002909413] |
Chr19:11576395 [GRCh38] Chr19:11687210 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.902A>G (p.Glu301Gly) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002705340] |
Chr19:11575086 [GRCh38] Chr19:11685901 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.735+10del |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV002848009] |
Chr19:11576233 [GRCh38] Chr19:11687048 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.144G>A (p.Met48Ile) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002796026] |
Chr19:11577174 [GRCh38] Chr19:11687989 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.570A>T (p.Lys190Asn) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002979390] |
Chr19:11576408 [GRCh38] Chr19:11687223 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.109G>A (p.Val37Ile) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003035331] |
Chr19:11577209 [GRCh38] Chr19:11688024 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.152C>A (p.Ala51Asp) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002797398] |
Chr19:11577166 [GRCh38] Chr19:11687981 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.389+17C>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003038299] |
Chr19:11576699 [GRCh38] Chr19:11687514 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.651C>A (p.Thr217=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002876726] |
Chr19:11576327 [GRCh38] Chr19:11687142 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.332A>G (p.His111Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002745803] |
Chr19:11576773 [GRCh38] Chr19:11687588 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.738C>T (p.Tyr246=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002711758] |
Chr19:11575250 [GRCh38] Chr19:11686065 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.5A>C (p.Asp2Ala) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003057240] |
Chr19:11577313 [GRCh38] Chr19:11688128 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.735+14G>A |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003024196] |
Chr19:11576229 [GRCh38] Chr19:11687044 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.612C>A (p.Gly204=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002801153] |
Chr19:11576366 [GRCh38] Chr19:11687181 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.28C>T (p.Leu10=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002595286] |
Chr19:11577290 [GRCh38] Chr19:11688105 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.976T>C (p.Ter326Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002852529] |
Chr19:11575012 [GRCh38] Chr19:11685827 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.949A>G (p.Thr317Ala) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002915059] |
Chr19:11575039 [GRCh38] Chr19:11685854 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.802A>G (p.Lys268Glu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003084681] |
Chr19:11575186 [GRCh38] Chr19:11686001 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.351C>A (p.Val117=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002829242] |
Chr19:11576754 [GRCh38] Chr19:11687569 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.520A>G (p.Arg174Gly) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003084683] |
Chr19:11576458 [GRCh38] Chr19:11687273 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.51C>A (p.Ser17=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002852137] |
Chr19:11577267 [GRCh38] Chr19:11688082 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.628_634delinsCCTACC (p.Ser210fs) |
indel |
Spondyloenchondrodysplasia with immune dysregulation [RCV003042216] |
Chr19:11576344..11576350 [GRCh38] Chr19:11687159..11687165 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.532G>A (p.Val178Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004066297]|Spondyloenchondrodysplasia with immune dysregulation [RCV002922215] |
Chr19:11576446 [GRCh38] Chr19:11687261 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.386G>T (p.Arg129Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002941519] |
Chr19:11576719 [GRCh38] Chr19:11687534 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.922G>A (p.Glu308Lys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003090423] |
Chr19:11575066 [GRCh38] Chr19:11685881 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.390-17C>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003009407] |
Chr19:11576605 [GRCh38] Chr19:11687420 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.69C>T (p.Thr23=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002576713] |
Chr19:11577249 [GRCh38] Chr19:11688064 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.385C>T (p.Arg129Cys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002598491] |
Chr19:11576720 [GRCh38] Chr19:11687535 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.550C>T (p.Gln184Ter) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003044829] |
Chr19:11576428 [GRCh38] Chr19:11687243 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.870T>C (p.Gly290=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002832930] |
Chr19:11575118 [GRCh38] Chr19:11685933 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.333T>C (p.His111=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003028493] |
Chr19:11576772 [GRCh38] Chr19:11687587 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.18G>A (p.Ala6=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002988877] |
Chr19:11577300 [GRCh38] Chr19:11688115 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.794A>G (p.Asp265Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002832549] |
Chr19:11575194 [GRCh38] Chr19:11686009 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.8T>C (p.Met3Thr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003087491] |
Chr19:11577310 [GRCh38] Chr19:11688125 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.531C>T (p.Asp177=) |
single nucleotide variant |
Inborn genetic diseases [RCV004963390]|Spondyloenchondrodysplasia with immune dysregulation [RCV003067507] |
Chr19:11576447 [GRCh38] Chr19:11687262 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.362T>C (p.Ile121Thr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002814285] |
Chr19:11576743 [GRCh38] Chr19:11687558 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.261+13C>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002605796] |
Chr19:11577044 [GRCh38] Chr19:11687859 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.755G>A (p.Gly252Asp) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003070681] |
Chr19:11575233 [GRCh38] Chr19:11686048 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.730C>T (p.Leu244=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV002603689] |
Chr19:11576248 [GRCh38] Chr19:11687063 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.56C>T (p.Ala19Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004068798]|Spondyloenchondrodysplasia with immune dysregulation [RCV002585276] |
Chr19:11577262 [GRCh38] Chr19:11688077 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.412C>T (p.Arg138Cys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003071790] |
Chr19:11576566 [GRCh38] Chr19:11687381 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.627_634delinsCCTACC (p.Trp209fs) |
indel |
Spondyloenchondrodysplasia with immune dysregulation [RCV004785927] |
Chr19:11576344..11576351 [GRCh38] Chr19:11687159..11687166 [GRCh37] Chr19:19p13.2 |
likely pathogenic |
NM_001611.4(ACP5):c.-89A>G |
single nucleotide variant |
not provided [RCV003328853] |
Chr19:11577681 [GRCh38] Chr19:11688496 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.433C>T (p.Gln145Ter) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003337999] |
Chr19:11576545 [GRCh38] Chr19:11687360 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.584C>G (p.Ala195Gly) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003340984] |
Chr19:11576394 [GRCh38] Chr19:11687209 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.613C>T (p.His205Tyr) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003641101]|not provided [RCV003443505] |
Chr19:11576365 [GRCh38] Chr19:11687180 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.132G>C (p.Thr44=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003526267] |
Chr19:11577186 [GRCh38] Chr19:11688001 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.262-13_262-12del |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV003525636] |
Chr19:11576855..11576856 [GRCh38] Chr19:11687670..11687671 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.960G>A (p.Pro320=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003527526] |
Chr19:11575028 [GRCh38] Chr19:11685843 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.618C>A (p.Tyr206Ter) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003527228] |
Chr19:11576360 [GRCh38] Chr19:11687175 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.735+15G>C |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003526340] |
Chr19:11576228 [GRCh38] Chr19:11687043 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.261+14A>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003526781] |
Chr19:11577043 [GRCh38] Chr19:11687858 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.372_373insC (p.Lys125fs) |
insertion |
Spondyloenchondrodysplasia with immune dysregulation [RCV003839769] |
Chr19:11576732..11576733 [GRCh38] Chr19:11687547..11687548 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.510G>A (p.Gln170=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003835246] |
Chr19:11576468 [GRCh38] Chr19:11687283 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.759G>A (p.Val253=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003833749] |
Chr19:11575229 [GRCh38] Chr19:11686044 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.637G>A (p.Glu213Lys) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003811943] |
Chr19:11576341 [GRCh38] Chr19:11687156 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.735+13T>A |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003642267] |
Chr19:11576230 [GRCh38] Chr19:11687045 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.39G>A (p.Leu13=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003641508] |
Chr19:11577279 [GRCh38] Chr19:11688094 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.622G>C (p.Val208Leu) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003640773] |
Chr19:11576356 [GRCh38] Chr19:11687171 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.329A>T (p.Asn110Ile) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003640551] |
Chr19:11576776 [GRCh38] Chr19:11687591 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.822C>G (p.Val274=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003641726] |
Chr19:11575166 [GRCh38] Chr19:11685981 [GRCh37] Chr19:19p13.2 |
likely benign |
GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1 |
copy number loss |
not specified [RCV003986120] |
Chr19:10441330..13077352 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.807G>A (p.Arg269=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003640392] |
Chr19:11575181 [GRCh38] Chr19:11685996 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.324C>T (p.Ala108=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003640763] |
Chr19:11576781 [GRCh38] Chr19:11687596 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.670C>T (p.Leu224=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003822045] |
Chr19:11576308 [GRCh38] Chr19:11687123 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.735+8C>A |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003642268] |
Chr19:11576235 [GRCh38] Chr19:11687050 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.309C>T (p.Pro103=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003641208] |
Chr19:11576796 [GRCh38] Chr19:11687611 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.954G>A (p.Arg318=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV003641614] |
Chr19:11575034 [GRCh38] Chr19:11685849 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.461T>C (p.Met154Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004435363] |
Chr19:11576517 [GRCh38] Chr19:11687332 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.295C>A (p.Leu99Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004435343] |
Chr19:11576810 [GRCh38] Chr19:11687625 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.702T>C (p.Thr234=) |
single nucleotide variant |
not provided [RCV004727234] |
Chr19:11576276 [GRCh38] Chr19:11687091 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.38T>C (p.Leu13Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004970140] |
Chr19:11577280 [GRCh38] Chr19:11688095 [GRCh37] Chr19:19p13.2 |
likely benign |
GRCh37/hg19 19p13.2(chr19:11024700-11822790)x3 |
copy number gain |
not provided [RCV004819641] |
Chr19:11024700..11822790 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.735+12G>C |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005086088] |
Chr19:11576231 [GRCh38] Chr19:11687046 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.390-17C>G |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005116876] |
Chr19:11576605 [GRCh38] Chr19:11687420 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.461T>G (p.Met154Arg) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005133745] |
Chr19:11576517 [GRCh38] Chr19:11687332 [GRCh37] Chr19:19p13.2 |
uncertain significance |
NM_001611.5(ACP5):c.735+15G>A |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005077748] |
Chr19:11576228 [GRCh38] Chr19:11687043 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.262-19C>A |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005187898] |
Chr19:11576862 [GRCh38] Chr19:11687677 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.918C>T (p.Tyr306=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005071045] |
Chr19:11575070 [GRCh38] Chr19:11685885 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.477A>G (p.Thr159=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005083236] |
Chr19:11576501 [GRCh38] Chr19:11687316 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.250_251del (p.Lys84fs) |
deletion |
Spondyloenchondrodysplasia with immune dysregulation [RCV005201371] |
Chr19:11577067..11577068 [GRCh38] Chr19:11687882..11687883 [GRCh37] Chr19:19p13.2 |
pathogenic |
NM_001611.5(ACP5):c.174G>A (p.Val58=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005155564] |
Chr19:11577144 [GRCh38] Chr19:11687959 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.237A>G (p.Gln79=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005157441] |
Chr19:11577081 [GRCh38] Chr19:11687896 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.183G>A (p.Leu61=) |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005151730] |
Chr19:11577135 [GRCh38] Chr19:11687950 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.736-13C>T |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005159264] |
Chr19:11575265 [GRCh38] Chr19:11686080 [GRCh37] Chr19:19p13.2 |
likely benign |
NM_001611.5(ACP5):c.390-20G>A |
single nucleotide variant |
Spondyloenchondrodysplasia with immune dysregulation [RCV005189915] |
Chr19:11576608 [GRCh38] Chr19:11687423 [GRCh37] Chr19:19p13.2 |
likely benign |