| NM_006610.4(MASP2):c.729C>T (p.Tyr243=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000276995] |
Chr1:11043351 [GRCh38]
Chr1:11103408 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_006610.4(MASP2):c.1773G>A (p.Pro591=) |
single nucleotide variant |
MASP2-related condition [RCV003931366]|not provided [RCV003884984] |
Chr1:11027173 [GRCh38]
Chr1:11087230 [GRCh37]
Chr1:1p36.22 |
likely benign |
| GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 |
copy number loss |
not specified [RCV003987128] |
Chr1:6330828..12910774 [GRCh37]
Chr1:1p36.31-36.21 |
pathogenic |
| NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000005520]|MASP2-related condition [RCV003974799]|not provided [RCV003237411]|not specified [RCV000239142] |
Chr1:11046609 [GRCh38]
Chr1:11106666 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity |
| NM_006610.4(MASP2):c.1130T>C (p.Val377Ala) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000336089] |
Chr1:11030840 [GRCh38]
Chr1:11090897 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| GRCh38/hg38 1p36.22(chr1:10637036-11293430)x3 |
copy number gain |
See cases [RCV000051459] |
Chr1:10637036..11293430 [GRCh38]
Chr1:10697093..11353487 [GRCh37]
Chr1:10619680..11276074 [NCBI36]
Chr1:1p36.22 |
uncertain significance |
| GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 |
copy number gain |
See cases [RCV000051794] |
Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21 |
pathogenic |
| GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] |
Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13 |
pathogenic |
| GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] |
Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21 |
pathogenic |
| GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 |
copy number loss |
See cases [RCV000053714] |
Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13 |
pathogenic |
| GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] |
Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22 |
pathogenic |
| GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 |
copy number loss |
See cases [RCV000053724] |
Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21 |
pathogenic |
| GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 |
copy number loss |
See cases [RCV000053755] |
Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21 |
pathogenic |
| GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 |
copy number loss |
See cases [RCV000053756] |
Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13 |
pathogenic |
| GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] |
Chr1:9406722..12852772 [GRCh38]
Chr1:9466781..12912625 [GRCh37]
Chr1:9389368..12835212 [NCBI36]
Chr1:1p36.22-36.21 |
pathogenic |
| GRCh38/hg38 1p36.22(chr1:10203955-12060262)x1 |
copy number loss |
See cases [RCV000053758] |
Chr1:10203955..12060262 [GRCh38]
Chr1:10264013..12120319 [GRCh37]
Chr1:10186600..12042906 [NCBI36]
Chr1:1p36.22 |
pathogenic |
| GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 |
copy number loss |
See cases [RCV000053760] |
Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12 |
pathogenic |
| GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 |
copy number loss |
See cases [RCV000053763] |
Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13 |
pathogenic |
| GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 |
copy number loss |
See cases [RCV000053765] |
Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13 |
pathogenic |
| NM_006610.4(MASP2):c.1064A>T (p.Asp355Val) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000339780]|not provided [RCV000886976] |
Chr1:11034851 [GRCh38]
Chr1:11094908 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| NM_007375.3(TARDBP):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
Malignant melanoma [RCV000064005] |
Chr1:11022368 [GRCh38]
Chr1:11082425 [GRCh37]
Chr1:11005012 [NCBI36]
Chr1:1p36.22 |
not provided |
| NM_006610.3(MASP2):c.1645A>T (p.Thr549Ser) |
single nucleotide variant |
Malignant melanoma [RCV000059831] |
Chr1:11027301 [GRCh38]
Chr1:11087358 [GRCh37]
Chr1:11009945 [NCBI36]
Chr1:1p36.22 |
not provided |
| NM_006610.4(MASP2):c.1391G>C (p.Gly464Ala) |
single nucleotide variant |
MASP2-related condition [RCV003944736] |
Chr1:11027555 [GRCh38]
Chr1:11087612 [GRCh37]
Chr1:1p36.22 |
benign |
| GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 |
copy number loss |
See cases [RCV000136695] |
Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22 |
pathogenic|likely pathogenic |
| GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 |
copy number loss |
See cases [RCV000135807] |
Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22 |
pathogenic |
| GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 |
copy number loss |
See cases [RCV000137461] |
Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21 |
pathogenic |
| GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 |
copy number loss |
See cases [RCV000133779] |
Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21 |
pathogenic |
| NM_006610.4(MASP2):c.1727C>T (p.Thr576Ile) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000276598] |
Chr1:11027219 [GRCh38]
Chr1:11087276 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.612G>A (p.Pro204=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000262064]|not provided [RCV000972615] |
Chr1:11043468 [GRCh38]
Chr1:11103525 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.377C>T (p.Pro126Leu) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000288150] |
Chr1:11046591 [GRCh38]
Chr1:11106648 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000278637]|not provided [RCV001529571] |
Chr1:11030828 [GRCh38]
Chr1:11090885 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.395C>T (p.Ala132Val) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000283221] |
Chr1:11046573 [GRCh38]
Chr1:11106630 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 |
copy number loss |
See cases [RCV000141438] |
Chr1:10264397..15780840 [GRCh38]
Chr1:10324455..16107335 [GRCh37]
Chr1:10247042..15979922 [NCBI36]
Chr1:1p36.22-36.21 |
pathogenic |
| GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 |
copy number loss |
See cases [RCV000137948] |
Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21 |
pathogenic|likely benign |
| NM_006610.4(MASP2):c.470A>G (p.His157Arg) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000279764]|not provided [RCV000955671] |
Chr1:11045482 [GRCh38]
Chr1:11105539 [GRCh37]
Chr1:1p36.22 |
benign|uncertain significance |
| NM_006610.4(MASP2):c.1080G>A (p.Ala360=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000286996] |
Chr1:11034835 [GRCh38]
Chr1:11094892 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.159C>T (p.Pro53=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000300025] |
Chr1:11046966 [GRCh38]
Chr1:11107023 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 |
copy number loss |
See cases [RCV000140873] |
Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21 |
pathogenic |
| GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 |
copy number gain |
See cases [RCV000141823] |
Chr1:11021751..15236671 [GRCh38]
Chr1:11081808..15563167 [GRCh37]
Chr1:11004395..15435754 [NCBI36]
Chr1:1p36.22-36.21 |
likely pathogenic |
| NM_006610.4(MASP2):c.1316G>A (p.Arg439His) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000318612]|not provided [RCV000961253] |
Chr1:11027630 [GRCh38]
Chr1:11087687 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.234+13C>T |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000315205]|not provided [RCV003422212] |
Chr1:11046878 [GRCh38]
Chr1:11106935 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| NM_006610.4(MASP2):c.891G>A (p.Ala297=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000308842] |
Chr1:11037810 [GRCh38]
Chr1:11097867 [GRCh37]
Chr1:1p36.22 |
benign |
| GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 |
copy number loss |
See cases [RCV000142771] |
Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13 |
pathogenic |
| GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 |
copy number gain |
See cases [RCV000142906] |
Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13 |
pathogenic |
| NM_006610.4(MASP2):c.551G>A (p.Cys184Tyr) |
single nucleotide variant |
not provided [RCV000509544] |
Chr1:11043529 [GRCh38]
Chr1:11103586 [GRCh37]
Chr1:1p36.22 |
not provided |
| NM_006610.4(MASP2):c.555C>T (p.Ser185=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000319512] |
Chr1:11043525 [GRCh38]
Chr1:11103582 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.357C>T (p.Ser119=) |
single nucleotide variant |
MASP2-related condition [RCV003968974] |
Chr1:11046611 [GRCh38]
Chr1:11106668 [GRCh37]
Chr1:1p36.22 |
likely benign |
| Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207058] |
Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11 |
uncertain significance |
| chr1:909238-16736132 complex variant |
complex |
Breast ductal adenocarcinoma [RCV000207094] |
Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13 |
uncertain significance |
| GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 |
copy number gain |
See cases [RCV000240284] |
Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21 |
likely pathogenic |
| NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000322878]|not provided [RCV000951232]|not specified [RCV000455452] |
Chr1:11045485 [GRCh38]
Chr1:11105542 [GRCh37]
Chr1:1p36.22 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 |
copy number loss |
See cases [RCV000240403] |
Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21 |
pathogenic |
| GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 |
copy number loss |
See cases [RCV000239416] |
Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22 |
pathogenic |
| NM_006610.4(MASP2):c.661T>C (p.Phe221Leu) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000329602] |
Chr1:11043419 [GRCh38]
Chr1:11103476 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1243G>A (p.Asp415Asn) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000375543]|not provided [RCV000964365] |
Chr1:11030230 [GRCh38]
Chr1:11090287 [GRCh37]
Chr1:1p36.22 |
benign|uncertain significance |
| NM_006610.4(MASP2):c.420C>T (p.Asp140=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000379831] |
Chr1:11045532 [GRCh38]
Chr1:11105589 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.384G>A (p.Thr128=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000340531] |
Chr1:11046584 [GRCh38]
Chr1:11106641 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.296G>A (p.Arg99Gln) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000345338]|MASP2-related condition [RCV003977818]|not provided [RCV000967903] |
Chr1:11046672 [GRCh38]
Chr1:11106729 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.234+6G>A |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000348987] |
Chr1:11046885 [GRCh38]
Chr1:11106942 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.383C>T (p.Thr128Met) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000394917] |
Chr1:11046585 [GRCh38]
Chr1:11106642 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1111G>T (p.Asp371Tyr) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000396976]|not provided [RCV001683170]|not specified [RCV000454761] |
Chr1:11030859 [GRCh38]
Chr1:11090916 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_006610.4(MASP2):c.828C>G (p.Ile276Met) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000399128] |
Chr1:11042936 [GRCh38]
Chr1:11102993 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*171A>C |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000273230] |
Chr1:11026714 [GRCh38]
Chr1:11086771 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.967A>C (p.Ser323Arg) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000400428] |
Chr1:11037734 [GRCh38]
Chr1:11097791 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.231C>T (p.Val77=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000400855]|not provided [RCV003422213] |
Chr1:11046894 [GRCh38]
Chr1:11106951 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| NM_006610.4(MASP2):c.1731A>C (p.Gln577His) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000364354]|not provided [RCV000971098] |
Chr1:11027215 [GRCh38]
Chr1:11087272 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.882G>A (p.Thr294=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000365891]|not provided [RCV000968969] |
Chr1:11042882 [GRCh38]
Chr1:11102939 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.612G>T (p.Pro204=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000367969] |
Chr1:11043468 [GRCh38]
Chr1:11103525 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.742-12C>T |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000369219] |
Chr1:11043034 [GRCh38]
Chr1:11103091 [GRCh37]
Chr1:1p36.22 |
likely benign|uncertain significance |
| NM_006610.4(MASP2):c.507A>G (p.Ala169=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000371962] |
Chr1:11045445 [GRCh38]
Chr1:11105502 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*219C>T |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000301588] |
Chr1:11026666 [GRCh38]
Chr1:11086723 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*189G>A |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000365495] |
Chr1:11026696 [GRCh38]
Chr1:11086753 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.81C>T (p.Phe27=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000259451] |
Chr1:11047044 [GRCh38]
Chr1:11107101 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.808A>C (p.Lys270Gln) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000307556] |
Chr1:11042956 [GRCh38]
Chr1:11103013 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.93A>T (p.Ala31=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000357236] |
Chr1:11047032 [GRCh38]
Chr1:11107089 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1590C>T (p.Asp530=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000386253] |
Chr1:11027356 [GRCh38]
Chr1:11087413 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*111C>T |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000326034] |
Chr1:11026774 [GRCh38]
Chr1:11086831 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2331A>G |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000377600]|Amyotrophic lateral sclerosis type 10 [RCV001098078]|Frontotemporal dementia [RCV000322945]|Immunodeficiency due to MASP-2 deficiency [RCV000309062] |
Chr1:11024985 [GRCh38]
Chr1:11085042 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.*184C>T |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000369417]|Frontotemporal dementia [RCV000314809]|Immunodeficiency due to MASP-2 deficiency [RCV001101863] |
Chr1:11026701 [GRCh38]
Chr1:11086758 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1617T>C (p.Asn539=) |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000260724]|Frontotemporal dementia [RCV000316368]|Immunodeficiency due to MASP-2 deficiency [RCV000333994]|not provided [RCV000963738] |
Chr1:11027329 [GRCh38]
Chr1:11087386 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| NM_006610.4(MASP2):c.1479C>T (p.Ser493=) |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000262387]|Frontotemporal dementia [RCV000357134]|Immunodeficiency due to MASP-2 deficiency [RCV000294328]|not specified [RCV000455702] |
Chr1:11027467 [GRCh38]
Chr1:11087524 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_007375.4(TARDBP):c.*2294_*2295insGTTTT |
insertion |
Amyotrophic Lateral Sclerosis, Dominant [RCV000267829]|Frontotemporal dementia [RCV000353235]|Immunodeficiency due to MASP-2 deficiency [RCV000394679] |
Chr1:11024947..11024948 [GRCh38]
Chr1:11085004..11085005 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_006610.4(MASP2):c.*225T>C |
single nucleotide variant |
Amyotrophic Lateral Sclerosis, Dominant [RCV000368372]|Frontotemporal dementia [RCV000400242]|Immunodeficiency due to MASP-2 deficiency [RCV000392886] |
Chr1:11026660 [GRCh38]
Chr1:11086717 [GRCh37]
Chr1:1p36.22 |
benign |
| GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 |
copy number loss |
See cases [RCV000446359] |
Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21 |
pathogenic |
| GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 |
copy number loss |
See cases [RCV000446470] |
Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12 |
pathogenic |
| GRCh37/hg19 1p36.23-36.22(chr1:7301946-11143298)x3 |
copy number gain |
See cases [RCV000448222] |
Chr1:7301946..11143298 [GRCh37]
Chr1:1p36.23-36.22 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1 |
copy number loss |
See cases [RCV000510444] |
Chr1:10722955..12910774 [GRCh37]
Chr1:1p36.22-36.21 |
likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 |
copy number loss |
See cases [RCV000512226] |
Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13 |
likely pathogenic |
| GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1 |
copy number loss |
See cases [RCV000512501] |
Chr1:10722725..14267773 [GRCh37]
Chr1:1p36.22-36.21 |
likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_006610.4(MASP2):c.412+1G>A |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000778935] |
Chr1:11046555 [GRCh38]
Chr1:11106612 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.242C>A (p.Ser81Ter) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000778179]|not provided [RCV000788170] |
Chr1:11046726 [GRCh38]
Chr1:11106783 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1574A>G (p.His525Arg) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV000768264] |
Chr1:11027372 [GRCh38]
Chr1:11087429 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 |
copy number loss |
See cases [RCV000790592] |
Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22 |
pathogenic |
| GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1 |
copy number loss |
not provided [RCV000846372] |
Chr1:10246640..12841900 [GRCh37]
Chr1:1p36.22-36.21 |
uncertain significance |
| NM_006610.4(MASP2):c.370G>A (p.Glu124Lys) |
single nucleotide variant |
not provided [RCV000879242] |
Chr1:11046598 [GRCh38]
Chr1:11106655 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_006610.4(MASP2):c.881C>T (p.Thr294Met) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001101960]|MASP2-related condition [RCV003923039]|not provided [RCV000904424] |
Chr1:11042883 [GRCh38]
Chr1:11102940 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_006610.4(MASP2):c.33T>C (p.Cys11=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001102049]|not provided [RCV000968508] |
Chr1:11047092 [GRCh38]
Chr1:11107149 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_006610.4(MASP2):c.38C>T (p.Ser13Leu) |
single nucleotide variant |
MASP2-related condition [RCV003930751]|not provided [RCV000889498] |
Chr1:11047087 [GRCh38]
Chr1:11107144 [GRCh37]
Chr1:1p36.22 |
benign|likely benign |
| GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1 |
copy number loss |
not provided [RCV001005065] |
Chr1:9852396..11909475 [GRCh37]
Chr1:1p36.22 |
likely pathogenic |
| GRCh37/hg19 1p36.22(chr1:11086990-11429365)x3 |
copy number gain |
not provided [RCV001005067] |
Chr1:11086990..11429365 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_007375.4(TARDBP):c.*2123T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 10 [RCV001096342]|Immunodeficiency due to MASP-2 deficiency [RCV001096341] |
Chr1:11024777 [GRCh38]
Chr1:11084834 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1470T>G (p.His490Gln) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001096432]|not specified [RCV004032008] |
Chr1:11027476 [GRCh38]
Chr1:11087533 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.11:g.(?_11012634)_(11934865_?)del |
deletion |
Atrial fibrillation, familial, 6 [RCV001031444] |
Chr1:11072691..11994922 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001096431] |
Chr1:11027060 [GRCh38]
Chr1:11087117 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.22(chr1:10908411-11158092)x3 |
copy number gain |
not provided [RCV001005066] |
Chr1:10908411..11158092 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.446C>T (p.Ala149Val) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001096546] |
Chr1:11045506 [GRCh38]
Chr1:11105563 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.464A>G (p.His155Arg) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001096545]|MASP2-related condition [RCV003928696] |
Chr1:11045488 [GRCh38]
Chr1:11105545 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_006610.4(MASP2):c.437C>T (p.Pro146Leu) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001096547] |
Chr1:11045515 [GRCh38]
Chr1:11105572 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1468C>T (p.His490Tyr) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001096433] |
Chr1:11027478 [GRCh38]
Chr1:11087535 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.100G>A (p.Gly34Ser) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001100059] |
Chr1:11047025 [GRCh38]
Chr1:11107082 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1314C>T (p.Ala438=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001098170] |
Chr1:11027632 [GRCh38]
Chr1:11087689 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1213G>A (p.Val405Met) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001098172] |
Chr1:11030757 [GRCh38]
Chr1:11090814 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1231G>A (p.Val411Met) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001098171] |
Chr1:11030242 [GRCh38]
Chr1:11090299 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.626C>T (p.Ser209Phe) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001101961] |
Chr1:11043454 [GRCh38]
Chr1:11103511 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*282C>A |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001099868] |
Chr1:11026603 [GRCh38]
Chr1:11086660 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*311T>C |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001099867] |
Chr1:11026574 [GRCh38]
Chr1:11086631 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*64C>T |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001101864] |
Chr1:11026821 [GRCh38]
Chr1:11086878 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.154C>T (p.Pro52Ser) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001100058] |
Chr1:11046971 [GRCh38]
Chr1:11107028 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.60G>A (p.Pro20=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001102048] |
Chr1:11047065 [GRCh38]
Chr1:11107122 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_006610.4(MASP2):c.99C>T (p.Pro33=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001102046] |
Chr1:11047026 [GRCh38]
Chr1:11107083 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.86G>A (p.Arg29His) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001102047] |
Chr1:11047039 [GRCh38]
Chr1:11107096 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.*220A>G |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001099869] |
Chr1:11026665 [GRCh38]
Chr1:11086722 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.229G>A (p.Val77Ile) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001100055]|not specified [RCV004032058] |
Chr1:11046896 [GRCh38]
Chr1:11106953 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.408C>T (p.Ala136=) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001098284] |
Chr1:11046560 [GRCh38]
Chr1:11106617 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_006610.4(MASP2):c.352C>T (p.Arg118Cys) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001098285]|not provided [RCV001530153] |
Chr1:11046616 [GRCh38]
Chr1:11106673 [GRCh37]
Chr1:1p36.22 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006610.4(MASP2):c.*212A>G |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001101862] |
Chr1:11026673 [GRCh38]
Chr1:11086730 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.223G>A (p.Asp75Asn) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001100056] |
Chr1:11046902 [GRCh38]
Chr1:11106959 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.172C>T (p.Arg58Cys) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001100057] |
Chr1:11046953 [GRCh38]
Chr1:11107010 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1187G>A (p.Cys396Tyr) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001098174] |
Chr1:11030783 [GRCh38]
Chr1:11090840 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1191A>C (p.Glu397Asp) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001098173] |
Chr1:11030779 [GRCh38]
Chr1:11090836 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.277G>C (p.Glu93Gln) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001098286] |
Chr1:11046691 [GRCh38]
Chr1:11106748 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1972A>G (p.Met658Val) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001101865] |
Chr1:11026974 [GRCh38]
Chr1:11087031 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.22(chr1:11053101-11336968)x1 |
copy number loss |
See cases [RCV001194542] |
Chr1:11053101..11336968 [GRCh37]
Chr1:1p36.22 |
likely pathogenic |
| NM_006610.4(MASP2):c.263C>T (p.Thr88Met) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001281039] |
Chr1:11046705 [GRCh38]
Chr1:11106762 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.505dup (p.Ala169fs) |
duplication |
MASP2 deficiency [RCV001334575] |
Chr1:11045446..11045447 [GRCh38]
Chr1:11105503..11105504 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NM_006610.4(MASP2):c.1078G>A (p.Ala360Thr) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001334573] |
Chr1:11034837 [GRCh38]
Chr1:11094894 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1126C>T (p.Arg376Ter) |
single nucleotide variant |
not provided [RCV002224687] |
Chr1:11030844 [GRCh38]
Chr1:11090901 [GRCh37]
Chr1:1p36.22 |
pathogenic|likely pathogenic |
| NM_006610.4(MASP2):c.503G>A (p.Arg168His) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001334574] |
Chr1:11045449 [GRCh38]
Chr1:11105506 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.890-1G>A |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV001839241] |
Chr1:11037812 [GRCh38]
Chr1:11097869 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 |
copy number loss |
not provided [RCV001832902] |
Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13 |
pathogenic |
| NC_000001.10:g.(?_10003560)_(11346188_?)del |
deletion |
Peroxisome biogenesis disorder, complementation group K [RCV001994817] |
Chr1:10003560..11346188 [GRCh37]
Chr1:1p36.22 |
pathogenic |
| NC_000001.10:g.(?_8616514)_(12476900_?)dup |
duplication |
Immunodeficiency 14 [RCV001920571] |
Chr1:8616514..12476900 [GRCh37]
Chr1:1p36.23-36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1515_1516dup (p.Ser506fs) |
duplication |
not provided [RCV002224614] |
Chr1:11027429..11027430 [GRCh38]
Chr1:11087486..11087487 [GRCh37]
Chr1:1p36.22 |
likely pathogenic |
| NC_000001.10:g.(?_6485016)_(12569078_?)del |
deletion |
not provided [RCV001940096] |
Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.741+1G>T |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV002266623] |
Chr1:11043338 [GRCh38]
Chr1:11103395 [GRCh37]
Chr1:1p36.22 |
likely pathogenic |
| NC_000001.11:g.10115497_16283149dup |
duplication |
not specified [RCV002286386] |
Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13 |
likely pathogenic |
| NM_006610.4(MASP2):c.1923T>G (p.Asp641Glu) |
single nucleotide variant |
not specified [RCV004134895] |
Chr1:11027023 [GRCh38]
Chr1:11087080 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 |
copy number loss |
not provided [RCV002474779] |
Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13 |
pathogenic |
| GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 |
copy number loss |
not provided [RCV002473951] |
Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22 |
pathogenic |
| NM_006610.4(MASP2):c.1138A>C (p.Ile380Leu) |
single nucleotide variant |
not specified [RCV004143999] |
Chr1:11030832 [GRCh38]
Chr1:11090889 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1474G>A (p.Ala492Thr) |
single nucleotide variant |
not specified [RCV004138635] |
Chr1:11027472 [GRCh38]
Chr1:11087529 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1798G>A (p.Ala600Thr) |
single nucleotide variant |
not specified [RCV004152710] |
Chr1:11027148 [GRCh38]
Chr1:11087205 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1309T>C (p.Ser437Pro) |
single nucleotide variant |
not specified [RCV004106080] |
Chr1:11027637 [GRCh38]
Chr1:11087694 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1453G>A (p.Val485Ile) |
single nucleotide variant |
not specified [RCV004242110] |
Chr1:11027493 [GRCh38]
Chr1:11087550 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1411G>A (p.Ala471Thr) |
single nucleotide variant |
not specified [RCV004130620] |
Chr1:11027535 [GRCh38]
Chr1:11087592 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1702G>C (p.Gly568Arg) |
single nucleotide variant |
not specified [RCV004133365] |
Chr1:11027244 [GRCh38]
Chr1:11087301 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1864G>A (p.Glu622Lys) |
single nucleotide variant |
not specified [RCV004142275] |
Chr1:11027082 [GRCh38]
Chr1:11087139 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.895C>T (p.Pro299Ser) |
single nucleotide variant |
not specified [RCV004229510] |
Chr1:11037806 [GRCh38]
Chr1:11097863 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1853G>C (p.Cys618Ser) |
single nucleotide variant |
not specified [RCV004175974] |
Chr1:11027093 [GRCh38]
Chr1:11087150 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.533G>A (p.Arg178His) |
single nucleotide variant |
not specified [RCV004202842] |
Chr1:11045419 [GRCh38]
Chr1:11105476 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1582G>A (p.Gly528Ser) |
single nucleotide variant |
not specified [RCV004126894] |
Chr1:11027364 [GRCh38]
Chr1:11087421 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.767G>A (p.Gly256Asp) |
single nucleotide variant |
not specified [RCV004152234] |
Chr1:11042997 [GRCh38]
Chr1:11103054 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.139T>C (p.Trp47Arg) |
single nucleotide variant |
not specified [RCV004236247] |
Chr1:11046986 [GRCh38]
Chr1:11107043 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.431T>C (p.Val144Ala) |
single nucleotide variant |
not specified [RCV004168367] |
Chr1:11045521 [GRCh38]
Chr1:11105578 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.2011A>C (p.Lys671Gln) |
single nucleotide variant |
not specified [RCV004083715] |
Chr1:11026935 [GRCh38]
Chr1:11086992 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.616C>A (p.Pro206Thr) |
single nucleotide variant |
not specified [RCV004122534] |
Chr1:11043464 [GRCh38]
Chr1:11103521 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.223G>C (p.Asp75His) |
single nucleotide variant |
not specified [RCV004077743] |
Chr1:11046902 [GRCh38]
Chr1:11106959 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1719G>C (p.Trp573Cys) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV003132596]|not specified [RCV004246018] |
Chr1:11027227 [GRCh38]
Chr1:11087284 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.4481271_20530242del |
deletion |
Chromosome 1p36 deletion syndrome [RCV003159574] |
Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12 |
pathogenic |
| NC_000001.10:g.(?_10535024)_(11107264_?)dup |
duplication |
Peroxisome biogenesis disorder, complementation group K [RCV003113536] |
Chr1:10535024..11107264 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.(?_10753911)_(11854615_?)dup |
duplication |
not provided [RCV003113615] |
Chr1:10753911..11854615 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.(?_9770514)_(11264780_?)del |
deletion |
Immunodeficiency 14 [RCV003116291] |
Chr1:9770514..11264780 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.(?_10698999)_(11907741_?)dup |
duplication |
Atrial fibrillation, familial, 6 [RCV003116537] |
Chr1:10698999..11907741 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.(?_9304994)_(12569078_?)dup |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV003119499] |
Chr1:9304994..12569078 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.179A>G (p.Tyr60Cys) |
single nucleotide variant |
not specified [RCV004291916] |
Chr1:11046946 [GRCh38]
Chr1:11107003 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1199T>G (p.Phe400Cys) |
single nucleotide variant |
not specified [RCV004320412] |
Chr1:11030771 [GRCh38]
Chr1:11090828 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.876C>G (p.His292Gln) |
single nucleotide variant |
not specified [RCV004274084] |
Chr1:11042888 [GRCh38]
Chr1:11102945 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1514T>C (p.Leu505Pro) |
single nucleotide variant |
not specified [RCV004327293] |
Chr1:11027432 [GRCh38]
Chr1:11087489 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1004T>C (p.Leu335Pro) |
single nucleotide variant |
not specified [RCV004304936] |
Chr1:11037697 [GRCh38]
Chr1:11097754 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.931G>A (p.Val311Ile) |
single nucleotide variant |
MASP2-related condition [RCV003419188] |
Chr1:11037770 [GRCh38]
Chr1:11097827 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.25C>T (p.Leu9Phe) |
single nucleotide variant |
not specified [RCV004360268] |
Chr1:11047100 [GRCh38]
Chr1:11107157 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.414C>A (p.Asp138Glu) |
single nucleotide variant |
not specified [RCV004353065] |
Chr1:11045538 [GRCh38]
Chr1:11105595 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.39G>A (p.Ser13=) |
single nucleotide variant |
not provided [RCV003422558] |
Chr1:11047086 [GRCh38]
Chr1:11107143 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1947G>T (p.Val649=) |
single nucleotide variant |
not provided [RCV003422557] |
Chr1:11026999 [GRCh38]
Chr1:11087056 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1780G>C (p.Asp594His) |
single nucleotide variant |
not specified [RCV004360229] |
Chr1:11027166 [GRCh38]
Chr1:11087223 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 |
copy number gain |
Trisomy 12p [RCV003447845] |
Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1 |
pathogenic |
| NM_006610.4(MASP2):c.1087+8_1087+10del |
deletion |
MASP2-related condition [RCV003414538] |
Chr1:11034818..11034820 [GRCh38]
Chr1:11094875..11094877 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1903G>A (p.Gly635Arg) |
single nucleotide variant |
Immunodeficiency due to MASP-2 deficiency [RCV003486146] |
Chr1:11027043 [GRCh38]
Chr1:11087100 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1254_1261delinsCCTCACACACTC (p.Trp418fs) |
indel |
Immunodeficiency due to MASP-2 deficiency [RCV003486147] |
Chr1:11030212..11030219 [GRCh38]
Chr1:11090269..11090276 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1256C>T (p.Thr419Met) |
single nucleotide variant |
not specified [RCV004416552] |
Chr1:11030217 [GRCh38]
Chr1:11090274 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.82G>A (p.Gly28Arg) |
single nucleotide variant |
not specified [RCV004416565] |
Chr1:11047043 [GRCh38]
Chr1:11107100 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1315C>T (p.Arg439Cys) |
single nucleotide variant |
not specified [RCV004416554] |
Chr1:11027631 [GRCh38]
Chr1:11087688 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.382A>G (p.Thr128Ala) |
single nucleotide variant |
not specified [RCV004416561] |
Chr1:11046586 [GRCh38]
Chr1:11106643 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.718C>A (p.Leu240Met) |
single nucleotide variant |
not specified [RCV004416564] |
Chr1:11043362 [GRCh38]
Chr1:11103419 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1127G>A (p.Arg376Gln) |
single nucleotide variant |
not specified [RCV004416551] |
Chr1:11030843 [GRCh38]
Chr1:11090900 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.2053G>A (p.Asp685Asn) |
single nucleotide variant |
not specified [RCV004416559] |
Chr1:11026893 [GRCh38]
Chr1:11086950 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1331G>A (p.Arg444His) |
single nucleotide variant |
not specified [RCV004416555] |
Chr1:11027615 [GRCh38]
Chr1:11087672 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1391G>A (p.Gly464Asp) |
single nucleotide variant |
not specified [RCV004416556] |
Chr1:11027555 [GRCh38]
Chr1:11087612 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.369C>A (p.Asn123Lys) |
single nucleotide variant |
not specified [RCV004416560] |
Chr1:11046599 [GRCh38]
Chr1:11106656 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1827G>A (p.Arg609=) |
single nucleotide variant |
MASP2-related condition [RCV003976827] |
Chr1:11027119 [GRCh38]
Chr1:11087176 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1946T>C (p.Val649Ala) |
single nucleotide variant |
not specified [RCV004416557] |
Chr1:11027000 [GRCh38]
Chr1:11087057 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1857T>G (p.Ala619=) |
single nucleotide variant |
MASP2-related condition [RCV003921639] |
Chr1:11027089 [GRCh38]
Chr1:11087146 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1647G>A (p.Thr549=) |
single nucleotide variant |
MASP2-related condition [RCV003934725] |
Chr1:11027299 [GRCh38]
Chr1:11087356 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_006610.4(MASP2):c.1085G>A (p.Ser362Asn) |
single nucleotide variant |
not specified [RCV004416550] |
Chr1:11034830 [GRCh38]
Chr1:11094887 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.508G>A (p.Gly170Ser) |
single nucleotide variant |
not specified [RCV004416562] |
Chr1:11045444 [GRCh38]
Chr1:11105501 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_006610.4(MASP2):c.1689G>A (p.Arg563=) |
single nucleotide variant |
MASP2-related condition [RCV003909273] |
Chr1:11027257 [GRCh38]
Chr1:11087314 [GRCh37]
Chr1:1p36.22 |
likely benign |
