| NM_001378156.1(C1QB):c.523C>T (p.Arg175Ter) |
single nucleotide variant |
C1Q deficiency 2 [RCV003221349] |
Chr1:22661153 [GRCh38]
Chr1:22987646 [GRCh37]
Chr1:1p36.12 |
pathogenic|likely pathogenic |
| GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1 |
copy number loss |
See cases [RCV000138071] |
Chr1:21399130..22696747 [GRCh38]
Chr1:21725623..23023240 [GRCh37]
Chr1:21598210..22895827 [NCBI36]
Chr1:1p36.12 |
likely pathogenic|uncertain significance |
| Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207058] |
Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11 |
uncertain significance |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| chr1:17555508-24706269 complex variant |
complex |
Breast ductal adenocarcinoma [RCV000207266] |
Chr1:17555508..24706269 [GRCh37]
Chr1:1p36.13-36.11 |
uncertain significance |
| NM_001378156.1(C1QB):c.394del (p.Leu132fs) |
deletion |
not provided [RCV000488091] |
Chr1:22661020 [GRCh38]
Chr1:22987513 [GRCh37]
Chr1:1p36.12 |
likely 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 |
| NM_001378156.1(C1QB):c.724G>A (p.Gly242Arg) |
single nucleotide variant |
C1Q deficiency [RCV000508980] |
Chr1:22661354 [GRCh38]
Chr1:22987847 [GRCh37]
Chr1:1p36.12 |
pathogenic |
| NM_001378156.1(C1QB):c.181+1G>T |
single nucleotide variant |
C1Q deficiency 2 [RCV003221354] |
Chr1:22659644 [GRCh38]
Chr1:22986137 [GRCh37]
Chr1:1p36.12 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_001378156.1(C1QB):c.543C>T (p.Asn181=) |
single nucleotide variant |
C1Q deficiency [RCV000625108]|not provided [RCV000963413] |
Chr1:22661173 [GRCh38]
Chr1:22987666 [GRCh37]
Chr1:1p36.12 |
benign|likely benign |
| 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_001378156.1(C1QB):c.-23-147GATG[10] |
microsatellite |
not provided [RCV001691775] |
Chr1:22659292..22659293 [GRCh38]
Chr1:22985785..22985786 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.102C>G (p.Ala34=) |
single nucleotide variant |
C1QB-related disorder [RCV003922947]|not provided [RCV000899943] |
Chr1:22659564 [GRCh38]
Chr1:22986057 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.538G>A (p.Val180Met) |
single nucleotide variant |
C1QB-related disorder [RCV003905894]|not provided [RCV000965543] |
Chr1:22661168 [GRCh38]
Chr1:22987661 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.597C>T (p.Ala199=) |
single nucleotide variant |
not provided [RCV000983117] |
Chr1:22661227 [GRCh38]
Chr1:22987720 [GRCh37]
Chr1:1p36.12 |
likely benign |
| 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 |
| NM_001378156.1(C1QB):c.217G>A (p.Gly73Arg) |
single nucleotide variant |
C1Q deficiency 2 [RCV005021154]|C1Q deficiency [RCV000768160]|not provided [RCV001528304] |
Chr1:22660847 [GRCh38]
Chr1:22987340 [GRCh37]
Chr1:1p36.12 |
likely benign|uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_001378156.1(C1QB):c.311C>T (p.Ala104Val) |
single nucleotide variant |
not provided [RCV000896178] |
Chr1:22660941 [GRCh38]
Chr1:22987434 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NC_000001.10:g.(?_19199339)_(22987879_?)dup |
duplication |
Autosomal recessive early-onset Parkinson disease 6 [RCV003113320]|Congenital disorder of glycosylation type Ir [RCV003113321]|Hyperprolinemia type 2 [RCV003107740] |
Chr1:19199339..22987879 [GRCh37]
Chr1:1p36.13-36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.*79A>G |
single nucleotide variant |
not provided [RCV001671146] |
Chr1:22661465 [GRCh38]
Chr1:22987958 [GRCh37]
Chr1:1p36.12 |
benign |
| GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 |
copy number loss |
1p36.1 deletion syndrome [RCV001614471] |
Chr1:16785250..23491592 [GRCh37]
Chr1:1p36.13-36.12 |
pathogenic |
| NM_001378156.1(C1QB):c.-23-147GATG[11] |
microsatellite |
not provided [RCV001683864] |
Chr1:22659292..22659293 [GRCh38]
Chr1:22985785..22985786 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.327T>C (p.Gly109=) |
single nucleotide variant |
not provided [RCV000886981] |
Chr1:22660957 [GRCh38]
Chr1:22987450 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.489C>T (p.Pro163=) |
single nucleotide variant |
not provided [RCV000930813] |
Chr1:22661119 [GRCh38]
Chr1:22987612 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.621C>T (p.Thr207=) |
single nucleotide variant |
C1QB-related disorder [RCV003945903]|not provided [RCV001172207] |
Chr1:22661251 [GRCh38]
Chr1:22987744 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.60C>A (p.Ile20=) |
single nucleotide variant |
C1QB-related disorder [RCV003915879]|not provided [RCV000955686] |
Chr1:22659522 [GRCh38]
Chr1:22986015 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.-23-147GATG[8] |
microsatellite |
not provided [RCV001658600] |
Chr1:22659293..22659296 [GRCh38]
Chr1:22985786..22985789 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.182-235T>C |
single nucleotide variant |
not provided [RCV001710401] |
Chr1:22660577 [GRCh38]
Chr1:22987070 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.181+267T>C |
single nucleotide variant |
not provided [RCV001709023] |
Chr1:22659910 [GRCh38]
Chr1:22986403 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.426C>T (p.His142=) |
single nucleotide variant |
not provided [RCV001702270] |
Chr1:22661056 [GRCh38]
Chr1:22987549 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.-3A>T |
single nucleotide variant |
not provided [RCV001352621] |
Chr1:22659460 [GRCh38]
Chr1:22985953 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.332C>T (p.Ser111Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003346489]|not provided [RCV001338964] |
Chr1:22660962 [GRCh38]
Chr1:22987455 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.61G>A (p.Asp21Asn) |
single nucleotide variant |
C1Q deficiency 2 [RCV005012766]|Inborn genetic diseases [RCV003166852]|not provided [RCV001319938] |
Chr1:22659523 [GRCh38]
Chr1:22986016 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.281del (p.Gly94fs) |
deletion |
C1q deficiency [RCV001334483] |
Chr1:22660909 [GRCh38]
Chr1:22987402 [GRCh37]
Chr1:1p36.12 |
pathogenic |
| NM_001378156.1(C1QB):c.601A>T (p.Asn201Tyr) |
single nucleotide variant |
not provided [RCV001413058] |
Chr1:22661231 [GRCh38]
Chr1:22987724 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.156G>A (p.Gly52=) |
single nucleotide variant |
not provided [RCV001510100] |
Chr1:22659618 [GRCh38]
Chr1:22986111 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.657C>T (p.Asn219=) |
single nucleotide variant |
not provided [RCV001520987] |
Chr1:22661287 [GRCh38]
Chr1:22987780 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.723C>T (p.Ser241=) |
single nucleotide variant |
not provided [RCV001517717] |
Chr1:22661353 [GRCh38]
Chr1:22987846 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.235G>A (p.Gly79Arg) |
single nucleotide variant |
not provided [RCV001815666] |
Chr1:22660865 [GRCh38]
Chr1:22987358 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.25C>T (p.Pro9Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002625348]|not provided [RCV001986868] |
Chr1:22659487 [GRCh38]
Chr1:22985980 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.515C>T (p.Ala172Val) |
single nucleotide variant |
not provided [RCV001929108] |
Chr1:22661145 [GRCh38]
Chr1:22987638 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.427G>A (p.Val143Met) |
single nucleotide variant |
C1Q deficiency 2 [RCV005016889]|not provided [RCV001984922] |
Chr1:22661057 [GRCh38]
Chr1:22987550 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.164G>C (p.Gly55Ala) |
single nucleotide variant |
not provided [RCV002035005] |
Chr1:22659626 [GRCh38]
Chr1:22986119 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.676G>A (p.Asp226Asn) |
single nucleotide variant |
not provided [RCV001944566] |
Chr1:22661306 [GRCh38]
Chr1:22987799 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.400C>T (p.Arg134Trp) |
single nucleotide variant |
C1Q deficiency 2 [RCV005014725]|Inborn genetic diseases [RCV004039823]|not provided [RCV001902003] |
Chr1:22661030 [GRCh38]
Chr1:22987523 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.116C>T (p.Pro39Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004968347]|not provided [RCV001887929] |
Chr1:22659578 [GRCh38]
Chr1:22986071 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.129dup (p.Thr44fs) |
duplication |
C1Q deficiency 2 [RCV005008353]|not provided [RCV001998831] |
Chr1:22659588..22659589 [GRCh38]
Chr1:22986081..22986082 [GRCh37]
Chr1:1p36.12 |
likely pathogenic|uncertain significance |
| NM_001378156.1(C1QB):c.337G>T (p.Asp113Tyr) |
single nucleotide variant |
not provided [RCV001887106] |
Chr1:22660967 [GRCh38]
Chr1:22987460 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.457C>A (p.Pro153Thr) |
single nucleotide variant |
not provided [RCV002047142] |
Chr1:22661087 [GRCh38]
Chr1:22987580 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.678C>A (p.Asp226Glu) |
single nucleotide variant |
not provided [RCV001921558] |
Chr1:22661308 [GRCh38]
Chr1:22987801 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.556C>T (p.Arg186Trp) |
single nucleotide variant |
not provided [RCV001923799] |
Chr1:22661186 [GRCh38]
Chr1:22987679 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.142G>A (p.Asp48Asn) |
single nucleotide variant |
not provided [RCV001899057] |
Chr1:22659604 [GRCh38]
Chr1:22986097 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.725G>C (p.Gly242Ala) |
single nucleotide variant |
not provided [RCV001995099] |
Chr1:22661355 [GRCh38]
Chr1:22987848 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.193C>T (p.Leu65=) |
single nucleotide variant |
not provided [RCV001877275] |
Chr1:22660823 [GRCh38]
Chr1:22987316 [GRCh37]
Chr1:1p36.12 |
likely benign|uncertain significance |
| NM_001378156.1(C1QB):c.551G>A (p.Arg184His) |
single nucleotide variant |
not provided [RCV001923761] |
Chr1:22661181 [GRCh38]
Chr1:22987674 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.401G>A (p.Arg134Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003167332]|not provided [RCV001952409] |
Chr1:22661031 [GRCh38]
Chr1:22987524 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.387C>T (p.Asn129=) |
single nucleotide variant |
not provided [RCV002209127] |
Chr1:22661017 [GRCh38]
Chr1:22987510 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.267C>G (p.Pro89=) |
single nucleotide variant |
not provided [RCV002105956] |
Chr1:22660897 [GRCh38]
Chr1:22987390 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.573G>A (p.Lys191=) |
single nucleotide variant |
not provided [RCV002190581] |
Chr1:22661203 [GRCh38]
Chr1:22987696 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.741A>C (p.Pro247=) |
single nucleotide variant |
not provided [RCV002187661] |
Chr1:22661371 [GRCh38]
Chr1:22987864 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.228A>G (p.Gly76=) |
single nucleotide variant |
not provided [RCV002071709] |
Chr1:22660858 [GRCh38]
Chr1:22987351 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.117G>A (p.Pro39=) |
single nucleotide variant |
not provided [RCV002106526] |
Chr1:22659579 [GRCh38]
Chr1:22986072 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.37T>C (p.Leu13=) |
single nucleotide variant |
not provided [RCV002094758] |
Chr1:22659499 [GRCh38]
Chr1:22985992 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.675C>T (p.Thr225=) |
single nucleotide variant |
C1QB-related disorder [RCV003923764]|not provided [RCV002133772] |
Chr1:22661305 [GRCh38]
Chr1:22987798 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.90C>T (p.Thr30=) |
single nucleotide variant |
not provided [RCV002134353] |
Chr1:22659552 [GRCh38]
Chr1:22986045 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.318C>A (p.Gly106=) |
single nucleotide variant |
not provided [RCV002193510] |
Chr1:22660948 [GRCh38]
Chr1:22987441 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.333G>A (p.Ser111=) |
single nucleotide variant |
not provided [RCV002178851] |
Chr1:22660963 [GRCh38]
Chr1:22987456 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.318C>T (p.Gly106=) |
single nucleotide variant |
not provided [RCV002154487] |
Chr1:22660948 [GRCh38]
Chr1:22987441 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.207T>C (p.His69=) |
single nucleotide variant |
not provided [RCV002141412] |
Chr1:22660837 [GRCh38]
Chr1:22987330 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.60C>T (p.Ile20=) |
single nucleotide variant |
not provided [RCV002122083] |
Chr1:22659522 [GRCh38]
Chr1:22986015 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.96C>G (p.Pro32=) |
single nucleotide variant |
not provided [RCV002183803] |
Chr1:22659558 [GRCh38]
Chr1:22986051 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.360C>T (p.Ile120=) |
single nucleotide variant |
not provided [RCV002081731] |
Chr1:22660990 [GRCh38]
Chr1:22987483 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NC_000001.10:g.(?_19199339)_(24690861_?)dup |
duplication |
Deficiency of hydroxymethylglutaryl-CoA lyase [RCV003122155] |
Chr1:19199339..24690861 [GRCh37]
Chr1:1p36.13-36.11 |
uncertain significance |
| NM_001378156.1(C1QB):c.13T>G (p.Trp5Gly) |
single nucleotide variant |
not provided [RCV002296024] |
Chr1:22659475 [GRCh38]
Chr1:22985968 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.702G>A (p.Glu234=) |
single nucleotide variant |
not provided [RCV002755560] |
Chr1:22661332 [GRCh38]
Chr1:22987825 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.208G>A (p.Gly70Ser) |
single nucleotide variant |
not provided [RCV003016436] |
Chr1:22660838 [GRCh38]
Chr1:22987331 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.424C>T (p.His142Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002817984] |
Chr1:22661054 [GRCh38]
Chr1:22987547 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.361G>A (p.Ala121Thr) |
single nucleotide variant |
not provided [RCV002974937] |
Chr1:22660991 [GRCh38]
Chr1:22987484 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.181+10G>C |
single nucleotide variant |
not provided [RCV003016435] |
Chr1:22659653 [GRCh38]
Chr1:22986146 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.78G>C (p.Gln26His) |
single nucleotide variant |
not provided [RCV002927025] |
Chr1:22659540 [GRCh38]
Chr1:22986033 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.371C>A (p.Ala124Asp) |
single nucleotide variant |
C1Q deficiency [RCV003445217]|Inborn genetic diseases [RCV002767975] |
Chr1:22661001 [GRCh38]
Chr1:22987494 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.141C>T (p.Pro47=) |
single nucleotide variant |
not provided [RCV002805566] |
Chr1:22659603 [GRCh38]
Chr1:22986096 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.745A>G (p.Met249Val) |
single nucleotide variant |
not provided [RCV002917281] |
Chr1:22661375 [GRCh38]
Chr1:22987868 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.398G>A (p.Arg133His) |
single nucleotide variant |
Inborn genetic diseases [RCV002931162] |
Chr1:22661028 [GRCh38]
Chr1:22987521 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.388G>A (p.Val130Ile) |
single nucleotide variant |
C1Q deficiency 2 [RCV005019632]|not provided [RCV003083411] |
Chr1:22661018 [GRCh38]
Chr1:22987511 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.439A>T (p.Met147Leu) |
single nucleotide variant |
not provided [RCV002631839] |
Chr1:22661069 [GRCh38]
Chr1:22987562 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.51G>A (p.Leu17=) |
single nucleotide variant |
C1Q deficiency 2 [RCV005019300]|not provided [RCV002631867] |
Chr1:22659513 [GRCh38]
Chr1:22986006 [GRCh37]
Chr1:1p36.12 |
likely benign|uncertain significance |
| NM_001378156.1(C1QB):c.242C>T (p.Pro81Leu) |
single nucleotide variant |
not provided [RCV002603255] |
Chr1:22660872 [GRCh38]
Chr1:22987365 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.358A>G (p.Ile120Val) |
single nucleotide variant |
C1Q deficiency 2 [RCV005011114]|Inborn genetic diseases [RCV002722676] |
Chr1:22660988 [GRCh38]
Chr1:22987481 [GRCh37]
Chr1:1p36.12 |
likely benign|uncertain significance |
| NM_001378156.1(C1QB):c.320C>T (p.Pro107Leu) |
single nucleotide variant |
not provided [RCV002654468] |
Chr1:22660950 [GRCh38]
Chr1:22987443 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.513C>T (p.His171=) |
single nucleotide variant |
not provided [RCV002944171] |
Chr1:22661143 [GRCh38]
Chr1:22987636 [GRCh37]
Chr1:1p36.12 |
benign |
| NM_001378156.1(C1QB):c.606C>T (p.Thr202=) |
single nucleotide variant |
not provided [RCV002588753] |
Chr1:22661236 [GRCh38]
Chr1:22987729 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.537C>T (p.Cys179=) |
single nucleotide variant |
not provided [RCV002587597] |
Chr1:22661167 [GRCh38]
Chr1:22987660 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.181+12T>A |
single nucleotide variant |
not provided [RCV002587149] |
Chr1:22659655 [GRCh38]
Chr1:22986148 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.323A>G (p.Lys108Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003195824] |
Chr1:22660953 [GRCh38]
Chr1:22987446 [GRCh37]
Chr1:1p36.12 |
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 |
| GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4 |
copy number gain |
not provided [RCV003485339] |
Chr1:17291707..23016395 [GRCh37]
Chr1:1p36.13-36.12 |
likely pathogenic |
| NM_001378156.1(C1QB):c.376A>G (p.Arg126Gly) |
single nucleotide variant |
C1QB-related disorder [RCV003403011] |
Chr1:22661006 [GRCh38]
Chr1:22987499 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.135T>A (p.Pro45=) |
single nucleotide variant |
not provided [RCV003834709] |
Chr1:22659597 [GRCh38]
Chr1:22986090 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.480C>T (p.Cys160=) |
single nucleotide variant |
not provided [RCV003696921] |
Chr1:22661110 [GRCh38]
Chr1:22987603 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.645G>A (p.Glu215=) |
single nucleotide variant |
not provided [RCV003672883] |
Chr1:22661275 [GRCh38]
Chr1:22987768 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.216C>T (p.Phe72=) |
single nucleotide variant |
not provided [RCV003556691] |
Chr1:22660846 [GRCh38]
Chr1:22987339 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.526G>A (p.Gly176Arg) |
single nucleotide variant |
not provided [RCV003844313] |
Chr1:22661156 [GRCh38]
Chr1:22987649 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.691C>T (p.Leu231=) |
single nucleotide variant |
not provided [RCV003729468] |
Chr1:22661321 [GRCh38]
Chr1:22987814 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.77A>G (p.Gln26Arg) |
single nucleotide variant |
not provided [RCV003553037] |
Chr1:22659539 [GRCh38]
Chr1:22986032 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.563G>A (p.Arg188His) |
single nucleotide variant |
Inborn genetic diseases [RCV004429510] |
Chr1:22661193 [GRCh38]
Chr1:22987686 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.484G>T (p.Val162Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004604392] |
Chr1:22661114 [GRCh38]
Chr1:22987607 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.488C>A (p.Pro163His) |
single nucleotide variant |
Inborn genetic diseases [RCV004604393] |
Chr1:22661118 [GRCh38]
Chr1:22987611 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.286A>G (p.Lys96Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004604394] |
Chr1:22660916 [GRCh38]
Chr1:22987409 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.205C>T (p.His69Tyr) |
single nucleotide variant |
C1Q deficiency 2 [RCV005009841] |
Chr1:22660835 [GRCh38]
Chr1:22987328 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.305C>T (p.Pro102Leu) |
single nucleotide variant |
C1Q deficiency 2 [RCV005009850] |
Chr1:22660935 [GRCh38]
Chr1:22987428 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.550C>G (p.Arg184Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004970354] |
Chr1:22661180 [GRCh38]
Chr1:22987673 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.293G>A (p.Gly98Asp) |
single nucleotide variant |
not provided [RCV005068337] |
Chr1:22660923 [GRCh38]
Chr1:22987416 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.203A>G (p.Asp68Gly) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015575] |
Chr1:22660833 [GRCh38]
Chr1:22987326 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.262G>A (p.Gly88Ser) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015579] |
Chr1:22660892 [GRCh38]
Chr1:22987385 [GRCh37]
Chr1:1p36.12 |
likely pathogenic |
| NM_001378156.1(C1QB):c.401G>C (p.Arg134Pro) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015589] |
Chr1:22661031 [GRCh38]
Chr1:22987524 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.461G>A (p.Arg154His) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015612] |
Chr1:22661091 [GRCh38]
Chr1:22987584 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.374C>T (p.Thr125Ile) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015582] |
Chr1:22661004 [GRCh38]
Chr1:22987497 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.428T>C (p.Val143Ala) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015599] |
Chr1:22661058 [GRCh38]
Chr1:22987551 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.434C>A (p.Thr145Asn) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015602] |
Chr1:22661064 [GRCh38]
Chr1:22987557 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.449A>G (p.Asn150Ser) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015605] |
Chr1:22661079 [GRCh38]
Chr1:22987572 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.261C>T (p.Val87=) |
single nucleotide variant |
not provided [RCV005066373] |
Chr1:22660891 [GRCh38]
Chr1:22987384 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.341A>T (p.Tyr114Phe) |
single nucleotide variant |
not provided [RCV005174163] |
Chr1:22660971 [GRCh38]
Chr1:22987464 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.36G>A (p.Met12Ile) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015554] |
Chr1:22659498 [GRCh38]
Chr1:22985991 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.46C>T (p.Leu16Phe) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015557] |
Chr1:22659508 [GRCh38]
Chr1:22986001 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.134C>G (p.Pro45Arg) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015571] |
Chr1:22659596 [GRCh38]
Chr1:22986089 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.420C>T (p.Phe140=) |
single nucleotide variant |
not provided [RCV005186579] |
Chr1:22661050 [GRCh38]
Chr1:22987543 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.651G>A (p.Gly217=) |
single nucleotide variant |
not provided [RCV005178406] |
Chr1:22661281 [GRCh38]
Chr1:22987774 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.675C>A (p.Thr225=) |
single nucleotide variant |
not provided [RCV005129241] |
Chr1:22661305 [GRCh38]
Chr1:22987798 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.488C>T (p.Pro163Leu) |
single nucleotide variant |
not provided [RCV005161252] |
Chr1:22661118 [GRCh38]
Chr1:22987611 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.460C>T (p.Arg154Cys) |
single nucleotide variant |
not provided [RCV002050780] |
Chr1:22661090 [GRCh38]
Chr1:22987583 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.91G>A (p.Gly31Arg) |
single nucleotide variant |
C1Q deficiency 2 [RCV005006288]|not provided [RCV001955775] |
Chr1:22659553 [GRCh38]
Chr1:22986046 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp) |
single nucleotide variant |
C1Q deficiency 2 [RCV003225881] |
Chr1:22661253 [GRCh38]
Chr1:22987746 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.605C>T (p.Thr202Ile) |
single nucleotide variant |
not provided [RCV003057098] |
Chr1:22661235 [GRCh38]
Chr1:22987728 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.384C>T (p.Ile128=) |
single nucleotide variant |
not provided [RCV002676595] |
Chr1:22661014 [GRCh38]
Chr1:22987507 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.664C>T (p.Leu222=) |
single nucleotide variant |
not provided [RCV003456636] |
Chr1:22661294 [GRCh38]
Chr1:22987787 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.40C>T (p.Leu14Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004429509] |
Chr1:22659502 [GRCh38]
Chr1:22985995 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.416G>A (p.Arg139His) |
single nucleotide variant |
Inborn genetic diseases [RCV004429508] |
Chr1:22661046 [GRCh38]
Chr1:22987539 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.182-354T>G |
single nucleotide variant |
not provided [RCV004727310] |
Chr1:22660458 [GRCh38]
Chr1:22986951 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.181+1G>A |
single nucleotide variant |
C1Q deficiency 2 [RCV005009838] |
Chr1:22659644 [GRCh38]
Chr1:22986137 [GRCh37]
Chr1:1p36.12 |
likely pathogenic |
| NM_001378156.1(C1QB):c.95C>A (p.Pro32His) |
single nucleotide variant |
C1Q deficiency 2 [RCV005009832] |
Chr1:22659557 [GRCh38]
Chr1:22986050 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.204C>G (p.Asp68Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004970353] |
Chr1:22660834 [GRCh38]
Chr1:22987327 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.58A>G (p.Ile20Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004970355] |
Chr1:22659520 [GRCh38]
Chr1:22986013 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.89C>G (p.Thr30Ser) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015564] |
Chr1:22659551 [GRCh38]
Chr1:22986044 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.409A>T (p.Thr137Ser) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015593] |
Chr1:22661039 [GRCh38]
Chr1:22987532 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.576G>A (p.Val192=) |
single nucleotide variant |
not provided [RCV005060547] |
Chr1:22661206 [GRCh38]
Chr1:22987699 [GRCh37]
Chr1:1p36.12 |
likely benign |
| NM_001378156.1(C1QB):c.527G>A (p.Gly176Glu) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015616] |
Chr1:22661157 [GRCh38]
Chr1:22987650 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.550C>T (p.Arg184Cys) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015622] |
Chr1:22661180 [GRCh38]
Chr1:22987673 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
| NM_001378156.1(C1QB):c.557G>A (p.Arg186Gln) |
single nucleotide variant |
C1Q deficiency 2 [RCV005015626] |
Chr1:22661187 [GRCh38]
Chr1:22987680 [GRCh37]
Chr1:1p36.12 |
uncertain significance |
