| COL4A3BP, SER132LEU |
single nucleotide variant |
Mental retardation, autosomal dominant 34 [RCV000170477] |
Chr5:5q13.3 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 |
copy number gain |
See cases [RCV000051839] |
Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1 |
pathogenic |
| NM_001379029.1(CERT1):c.413C>T (p.Ser138Phe) |
single nucleotide variant |
not provided [RCV001291600] |
Chr5:75426414 [GRCh38]
Chr5:74722239 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_001379029.1(CERT1):c.1616C>T (p.Pro539Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004023483]|not provided [RCV000514288] |
Chr5:75381950 [GRCh38]
Chr5:74677775 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.394T>C (p.Ser132Pro) |
single nucleotide variant |
not provided [RCV000519191] |
Chr5:75426433 [GRCh38]
Chr5:74722258 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_001379029.1(CERT1):c.1335del (p.Ala446fs) |
deletion |
Intellectual disability, autosomal dominant 34 [RCV000723334] |
Chr5:75385984 [GRCh38]
Chr5:74681809 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_001379029.1(CERT1):c.170C>A (p.Ser57Tyr) |
single nucleotide variant |
not provided [RCV000435874] |
Chr5:75506043 [GRCh38]
Chr5:74801868 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_001379029.1(CERT1):c.1120C>T (p.Arg374Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004428564] |
Chr5:75399378 [GRCh38]
Chr5:74695203 [GRCh37]
Chr5:74730959 [NCBI36]
Chr5:5q13.3 |
uncertain significance|not provided |
| NM_001379029.1(CERT1):c.-114G>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV000662102] |
Chr5:75511321 [GRCh38]
Chr5:74807146 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_001379029.1(CERT1):c.370G>C (p.Glu124Gln) |
single nucleotide variant |
not provided [RCV000437995] |
Chr5:75426457 [GRCh38]
Chr5:74722282 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.395C>T (p.Ser132Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV001253088]|not provided [RCV000480594] |
Chr5:75426432 [GRCh38]
Chr5:74722257 [GRCh37]
Chr5:5q13.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_016218.3(POLK):c.-91_-89TGC[1] |
microsatellite |
not provided [RCV003318114] |
Chr5:75511837..75511839 [GRCh38]
Chr5:74807662..74807664 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-75C>T |
single nucleotide variant |
CERT1-related condition [RCV003945568]|Inborn genetic diseases [RCV000622684] |
Chr5:75511282 [GRCh38]
Chr5:74807107 [GRCh37]
Chr5:5q13.3 |
likely benign|uncertain significance |
| NM_001379029.1(CERT1):c.-84G>A |
single nucleotide variant |
not provided [RCV000515004] |
Chr5:75511291 [GRCh38]
Chr5:74807116 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_001379029.1(CERT1):c.475G>A (p.Glu159Lys) |
single nucleotide variant |
not provided [RCV000519877] |
Chr5:75425481 [GRCh38]
Chr5:74721306 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_001379029.1(CERT1):c.-115G>C |
single nucleotide variant |
not provided [RCV000512907] |
Chr5:75511322 [GRCh38]
Chr5:74807147 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-205G>A |
single nucleotide variant |
not provided [RCV000513384] |
Chr5:75511412 [GRCh38]
Chr5:74807237 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh37/hg19 5q13.3(chr5:74734502-74937724)x3 |
copy number gain |
not provided [RCV000682567] |
Chr5:74734502..74937724 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001130105.1(CERT1):c.55T>G (p.Phe19Val) |
single nucleotide variant |
Intellectual disability [RCV001251956]|not provided [RCV003311968] |
Chr5:75511790 [GRCh38]
Chr5:74807615 [GRCh37]
Chr5:5q13.3 |
likely benign |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_001379029.1(CERT1):c.408G>A (p.Leu136=) |
single nucleotide variant |
not provided [RCV000897353] |
Chr5:75426419 [GRCh38]
Chr5:74722244 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_005713.3(CERT1):c.*10-8del |
deletion |
not provided [RCV001573742]|not specified [RCV001727895] |
Chr5:75374199 [GRCh38]
Chr5:74670024 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_001379029.1(CERT1):c.905C>A (p.Ser302Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV001564046] |
Chr5:75411036 [GRCh38]
Chr5:74706861 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.936C>G (p.Gly312=) |
single nucleotide variant |
not provided [RCV000900373] |
Chr5:75403053 [GRCh38]
Chr5:74698878 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1748-4G>A |
single nucleotide variant |
not provided [RCV000925648] |
Chr5:75379477 [GRCh38]
Chr5:74675302 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.84G>C (p.Gly28=) |
single nucleotide variant |
not provided [RCV000902412] |
Chr5:75511124 [GRCh38]
Chr5:74806949 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.596-8T>C |
single nucleotide variant |
not provided [RCV000904992] |
Chr5:75419432 [GRCh38]
Chr5:74715257 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1227A>G (p.Leu409=) |
single nucleotide variant |
not provided [RCV000900721] |
Chr5:75389649 [GRCh38]
Chr5:74685474 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_001379029.1(CERT1):c.1833T>C (p.Ser611=) |
single nucleotide variant |
not provided [RCV000923260] |
Chr5:75379388 [GRCh38]
Chr5:74675213 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.735G>A (p.Ala245=) |
single nucleotide variant |
not provided [RCV000971509] |
Chr5:75416978 [GRCh38]
Chr5:74712803 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.450A>G (p.Ser150=) |
single nucleotide variant |
not provided [RCV000972111] |
Chr5:75426377 [GRCh38]
Chr5:74722202 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_001379029.1(CERT1):c.-202C>T |
single nucleotide variant |
not provided [RCV000921085] |
Chr5:75511409 [GRCh38]
Chr5:74807234 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1800A>G (p.Arg600=) |
single nucleotide variant |
not provided [RCV000944490] |
Chr5:75379421 [GRCh38]
Chr5:74675246 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_001379029.1(CERT1):c.1743T>C (p.Ala581=) |
single nucleotide variant |
not provided [RCV000902411] |
Chr5:75381076 [GRCh38]
Chr5:74676901 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1284+8C>T |
single nucleotide variant |
not provided [RCV000940557] |
Chr5:75389584 [GRCh38]
Chr5:74685409 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_001379029.1(CERT1):c.1707C>T (p.Ser569=) |
single nucleotide variant |
not provided [RCV000903519] |
Chr5:75381112 [GRCh38]
Chr5:74676937 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.-183G>T |
single nucleotide variant |
not provided [RCV000838461] |
Chr5:75511390 [GRCh38]
Chr5:74807215 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1301T>G (p.Val434Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV000785082] |
Chr5:75386018 [GRCh38]
Chr5:74681843 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-200T>C |
single nucleotide variant |
not provided [RCV001091918] |
Chr5:75511407 [GRCh38]
Chr5:74807232 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-162_-152del |
deletion |
Microcephaly [RCV000850078]|not provided [RCV003432785] |
Chr5:75511359..75511369 [GRCh38]
Chr5:74807184..74807194 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.84G>T (p.Gly28=) |
single nucleotide variant |
CERT1-related condition [RCV003950803]|not provided [RCV000914285] |
Chr5:75511124 [GRCh38]
Chr5:74806949 [GRCh37]
Chr5:5q13.3 |
likely benign |
| GRCh37/hg19 5q13.3(chr5:74608171-74682279)x3 |
copy number gain |
not provided [RCV000849534] |
Chr5:74608171..74682279 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1368T>A (p.His456Gln) |
single nucleotide variant |
not provided [RCV001200519] |
Chr5:75385951 [GRCh38]
Chr5:74681776 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 |
copy number gain |
not provided [RCV001005683] |
Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15 |
pathogenic |
| NM_001379029.1(CERT1):c.1771G>T (p.Ala591Ser) |
single nucleotide variant |
not provided [RCV003235943] |
Chr5:75379450 [GRCh38]
Chr5:74675275 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.957AGA[1] (p.Glu321del) |
microsatellite |
not provided [RCV001568565] |
Chr5:75403027..75403029 [GRCh38]
Chr5:74698852..74698854 [GRCh37]
Chr5:5q13.3 |
pathogenic |
| NM_001379029.1(CERT1):c.1371A>G (p.Glu457=) |
single nucleotide variant |
CERT1-related condition [RCV003975963]|not provided [RCV001679383] |
Chr5:75385948 [GRCh38]
Chr5:74681773 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_001379029.1(CERT1):c.1510C>A (p.Arg504=) |
single nucleotide variant |
not provided [RCV000974510] |
Chr5:75382056 [GRCh38]
Chr5:74677881 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.6G>A (p.Ser2=) |
single nucleotide variant |
CERT1-related condition [RCV003928588]|not provided [RCV000974511] |
Chr5:75511202 [GRCh38]
Chr5:74807027 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001130105.1(CERT1):c.18C>T (p.Ile6=) |
single nucleotide variant |
not provided [RCV000926044] |
Chr5:75511827 [GRCh38]
Chr5:74807652 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.-80C>T |
single nucleotide variant |
not provided [RCV000907540] |
Chr5:75511287 [GRCh38]
Chr5:74807112 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1185C>T (p.Ser395=) |
single nucleotide variant |
not provided [RCV000929301] |
Chr5:75399313 [GRCh38]
Chr5:74695138 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_016218.3(POLK):c.-139A>C |
single nucleotide variant |
not provided [RCV001200520] |
Chr5:75511789 [GRCh38]
Chr5:74807614 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1287A>G (p.Val429=) |
single nucleotide variant |
not provided [RCV000891201] |
Chr5:75386032 [GRCh38]
Chr5:74681857 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1107A>G (p.Gln369=) |
single nucleotide variant |
not provided [RCV000913398] |
Chr5:75400208 [GRCh38]
Chr5:74696033 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.-168C>G |
single nucleotide variant |
CERT1-related condition [RCV003975608]|not provided [RCV000889309] |
Chr5:75511375 [GRCh38]
Chr5:74807200 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_001379029.1(CERT1):c.1722A>G (p.Leu574=) |
single nucleotide variant |
not provided [RCV000933888] |
Chr5:75381097 [GRCh38]
Chr5:74676922 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.931-7G>C |
single nucleotide variant |
not provided [RCV000913997] |
Chr5:75403065 [GRCh38]
Chr5:74698890 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.473G>A (p.Arg158His) |
single nucleotide variant |
CERT1-related condition [RCV003950384]|not provided [RCV000890731] |
Chr5:75425483 [GRCh38]
Chr5:74721308 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_001379029.1(CERT1):c.1355G>A (p.Gly452Asp) |
single nucleotide variant |
not provided [RCV002469819] |
Chr5:75385964 [GRCh38]
Chr5:74681789 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1201G>C (p.Val401Leu) |
single nucleotide variant |
not specified [RCV002470167] |
Chr5:75389675 [GRCh38]
Chr5:74685500 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1213A>G (p.Met405Val) |
single nucleotide variant |
not provided [RCV001091917] |
Chr5:75389663 [GRCh38]
Chr5:74685488 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh37/hg19 5q13.3(chr5:74744212-74806334)x1 |
copy number loss |
Neurodevelopmental delay [RCV001004814] |
Chr5:74744212..74806334 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-240G>T |
single nucleotide variant |
not provided [RCV001171849] |
Chr5:75511447 [GRCh38]
Chr5:74807272 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-213C>G |
single nucleotide variant |
not provided [RCV001091919] |
Chr5:75511420 [GRCh38]
Chr5:74807245 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala) |
single nucleotide variant |
Autistic behavior [RCV001254981] |
Chr5:75425460 [GRCh38]
Chr5:74721285 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_001379029.1(CERT1):c.404C>T (p.Ser135Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV001265867] |
Chr5:75426423 [GRCh38]
Chr5:74722248 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_001379029.1(CERT1):c.943A>T (p.Ser315Cys) |
single nucleotide variant |
not provided [RCV002280440] |
Chr5:75403046 [GRCh38]
Chr5:74698871 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.761G>A (p.Gly254Glu) |
single nucleotide variant |
not provided [RCV001325578] |
Chr5:75416952 [GRCh38]
Chr5:74712777 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-121del |
deletion |
Intellectual disability, autosomal dominant 34 [RCV001291646] |
Chr5:75511328 [GRCh38]
Chr5:74807153 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1439T>C (p.Val480Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV002244153] |
Chr5:75384691 [GRCh38]
Chr5:74680516 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1284+1G>A |
single nucleotide variant |
not provided [RCV001764013] |
Chr5:75389591 [GRCh38]
Chr5:74685416 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.728G>A (p.Gly243Glu) |
single nucleotide variant |
not provided [RCV001772446] |
Chr5:75416985 [GRCh38]
Chr5:74712810 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1147C>G (p.Leu383Val) |
single nucleotide variant |
not provided [RCV003238602] |
Chr5:75399351 [GRCh38]
Chr5:74695176 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1823G>T (p.Arg608Leu) |
single nucleotide variant |
not provided [RCV001765680] |
Chr5:75379398 [GRCh38]
Chr5:74675223 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.514T>C (p.Cys172Arg) |
single nucleotide variant |
not provided [RCV001768527] |
Chr5:75425442 [GRCh38]
Chr5:74721267 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.144A>C (p.Lys48Asn) |
single nucleotide variant |
not provided [RCV001752062] |
Chr5:75506069 [GRCh38]
Chr5:74801894 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_005713.3(CERT1):c.*10-7C>T |
single nucleotide variant |
not provided [RCV002214356] |
Chr5:75374198 [GRCh38]
Chr5:74670023 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_001379029.1(CERT1):c.-287C>T |
single nucleotide variant |
not provided [RCV003110127] |
Chr5:75511494 [GRCh38]
Chr5:74807319 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-171G>A |
single nucleotide variant |
not provided [RCV003123300] |
Chr5:75511378 [GRCh38]
Chr5:74807203 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.769G>C (p.Ala257Pro) |
single nucleotide variant |
not provided [RCV003149337] |
Chr5:75416944 [GRCh38]
Chr5:74712769 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1367A>G (p.His456Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV003232957] |
Chr5:75385952 [GRCh38]
Chr5:74681777 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1733C>T (p.Thr578Ile) |
single nucleotide variant |
not provided [RCV002269435] |
Chr5:75381086 [GRCh38]
Chr5:74676911 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001130105.1(CERT1):c.67G>A (p.Val23Ile) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV002286596] |
Chr5:75511778 [GRCh38]
Chr5:74807603 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1637G>A (p.Arg546His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV002291122] |
Chr5:75381182 [GRCh38]
Chr5:74677007 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1289A>G (p.Tyr430Cys) |
single nucleotide variant |
not provided [RCV002286275] |
Chr5:75386030 [GRCh38]
Chr5:74681855 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.554G>T (p.Cys185Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004285660]|not specified [RCV003236483] |
Chr5:75425402 [GRCh38]
Chr5:74721227 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1115A>G (p.Tyr372Cys) |
single nucleotide variant |
not provided [RCV002263381] |
Chr5:75399383 [GRCh38]
Chr5:74695208 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1613C>T (p.Ala538Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004067586]|not specified [RCV002470166] |
Chr5:75381953 [GRCh38]
Chr5:74677778 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1498C>A (p.Pro500Thr) |
single nucleotide variant |
not provided [RCV003154400] |
Chr5:75382068 [GRCh38]
Chr5:74677893 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.113A>G (p.His38Arg) |
single nucleotide variant |
not provided [RCV002306156] |
Chr5:75506100 [GRCh38]
Chr5:74801925 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1823G>C (p.Arg608Pro) |
single nucleotide variant |
COL4A3BP-Related Disorder [RCV002509016] |
Chr5:75379398 [GRCh38]
Chr5:74675223 [GRCh37]
Chr5:5q13.3 |
not provided |
| NM_001379029.1(CERT1):c.734C>T (p.Ala245Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV003145708] |
Chr5:75416979 [GRCh38]
Chr5:74712804 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1073C>G (p.Ala358Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV003145707] |
Chr5:75400242 [GRCh38]
Chr5:74696067 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-245C>T |
single nucleotide variant |
Inborn genetic diseases [RCV003204809] |
Chr5:75511452 [GRCh38]
Chr5:74807277 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-35C>T |
single nucleotide variant |
Inborn genetic diseases [RCV003195326] |
Chr5:75511242 [GRCh38]
Chr5:74807067 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.397A>G (p.Met133Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003265833]|not provided [RCV003318753] |
Chr5:75426430 [GRCh38]
Chr5:74722255 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.386G>A (p.Arg129Gln) |
single nucleotide variant |
not provided [RCV003329915] |
Chr5:75426441 [GRCh38]
Chr5:74722266 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.728G>C (p.Gly243Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV003330150] |
Chr5:75416985 [GRCh38]
Chr5:74712810 [GRCh37]
Chr5:5q13.3 |
likely pathogenic |
| NM_001379029.1(CERT1):c.595G>A (p.Val199Met) |
single nucleotide variant |
not provided [RCV003332684] |
Chr5:75425361 [GRCh38]
Chr5:74721186 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1054T>G (p.Ser352Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003376207] |
Chr5:75400261 [GRCh38]
Chr5:74696086 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379002.1(CERT1):c.*9+5291A>G |
single nucleotide variant |
not provided [RCV003429684] |
Chr5:75374046 [GRCh38]
Chr5:74669871 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1706G>A (p.Ser569Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003386380] |
Chr5:75381113 [GRCh38]
Chr5:74676938 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_000859.3(HMGCR):c.1986+501G>A |
single nucleotide variant |
not provided [RCV003429683] |
Chr5:75356949 [GRCh38]
Chr5:74652774 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.85G>A (p.Val29Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004364603]|not provided [RCV003429685] |
Chr5:75511123 [GRCh38]
Chr5:74806948 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379002.1(CERT1):c.*9+5200dup |
duplication |
not provided [RCV003457436] |
Chr5:75374136..75374137 [GRCh38]
Chr5:74669961..74669962 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_000859.3(HMGCR):c.1986+564C>T |
single nucleotide variant |
not provided [RCV003327156] |
Chr5:75357012 [GRCh38]
Chr5:74652837 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1465A>G (p.Ile489Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004364602]|not provided [RCV003428543] |
Chr5:75384665 [GRCh38]
Chr5:74680490 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.96+19C>T |
single nucleotide variant |
not specified [RCV003404733] |
Chr5:75511093 [GRCh38]
Chr5:74806918 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.923A>T (p.Asp308Val) |
single nucleotide variant |
not provided [RCV003442746] |
Chr5:75411018 [GRCh38]
Chr5:74706843 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-249_-241dup |
duplication |
not provided [RCV003428547] |
Chr5:75511447..75511448 [GRCh38]
Chr5:74807272..74807273 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1564G>T (p.Asp522Tyr) |
single nucleotide variant |
not provided [RCV003442574] |
Chr5:75382002 [GRCh38]
Chr5:74677827 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_016218.3(POLK):c.-159C>T |
single nucleotide variant |
not provided [RCV003429687] |
Chr5:75511769 [GRCh38]
Chr5:74807594 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1300G>A (p.Val434Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004364718]|Intellectual disability, autosomal dominant 34 [RCV003458293] |
Chr5:75386019 [GRCh38]
Chr5:74681844 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-155G>A |
single nucleotide variant |
not provided [RCV003429686] |
Chr5:75511362 [GRCh38]
Chr5:74807187 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.999A>C (p.Gln333His) |
single nucleotide variant |
not provided [RCV003428544] |
Chr5:75402990 [GRCh38]
Chr5:74698815 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.287A>G (p.Tyr96Cys) |
single nucleotide variant |
not provided [RCV003443763] |
Chr5:75459126 [GRCh38]
Chr5:74754951 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1686A>G (p.Pro562=) |
single nucleotide variant |
not provided [RCV003428542] |
Chr5:75381133 [GRCh38]
Chr5:74676958 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.326T>C (p.Ile109Thr) |
single nucleotide variant |
not provided [RCV003428545] |
Chr5:75459087 [GRCh38]
Chr5:74754912 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_016218.3(POLK):c.-109G>C |
single nucleotide variant |
not provided [RCV003577446] |
Chr5:75511819 [GRCh38]
Chr5:74807644 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1418-16_1418-14del |
microsatellite |
not specified [RCV003995000] |
Chr5:75384726..75384728 [GRCh38]
Chr5:74680551..74680553 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.954T>C (p.Asn318=) |
single nucleotide variant |
CERT1-related condition [RCV003919569] |
Chr5:75403035 [GRCh38]
Chr5:74698860 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1041A>G (p.Leu347=) |
single nucleotide variant |
CERT1-related condition [RCV003977231] |
Chr5:75400274 [GRCh38]
Chr5:74696099 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.-255ACGGCG[3] |
microsatellite |
CERT1-related condition [RCV003914518] |
Chr5:75511450..75511451 [GRCh38]
Chr5:74807275..74807276 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1212C>G (p.His404Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV003991946] |
Chr5:75389664 [GRCh38]
Chr5:74685489 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1346C>T (p.Ala449Val) |
single nucleotide variant |
not specified [RCV003988542] |
Chr5:75385973 [GRCh38]
Chr5:74681798 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-242C>T |
single nucleotide variant |
CERT1-related condition [RCV003944729] |
Chr5:75511449 [GRCh38]
Chr5:74807274 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1521A>G (p.Leu507=) |
single nucleotide variant |
CERT1-related condition [RCV003976798] |
Chr5:75382045 [GRCh38]
Chr5:74677870 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.629C>T (p.Thr210Met) |
single nucleotide variant |
CERT1-related condition [RCV003907338] |
Chr5:75419391 [GRCh38]
Chr5:74715216 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1317T>A (p.Ile439=) |
single nucleotide variant |
CERT1-related condition [RCV003946870] |
Chr5:75386002 [GRCh38]
Chr5:74681827 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.871T>C (p.Tyr291His) |
single nucleotide variant |
not specified [RCV003988317] |
Chr5:75411070 [GRCh38]
Chr5:74706895 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1132A>G (p.Met378Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004428565] |
Chr5:75399366 [GRCh38]
Chr5:74695191 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1628G>A (p.Arg543Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004428568] |
Chr5:75381191 [GRCh38]
Chr5:74677016 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001130105.1(CERT1):c.26C>T (p.Pro9Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004428572] |
Chr5:75511819 [GRCh38]
Chr5:74807644 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-63G>C |
single nucleotide variant |
Inborn genetic diseases [RCV004428576] |
Chr5:75511270 [GRCh38]
Chr5:74807095 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.419C>T (p.Ala140Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004428583] |
Chr5:75426408 [GRCh38]
Chr5:74722233 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.718G>T (p.Asp240Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004428559] |
Chr5:75416995 [GRCh38]
Chr5:74712820 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.846G>C (p.Glu282Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004428561] |
Chr5:75411095 [GRCh38]
Chr5:74706920 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.872A>T (p.Tyr291Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004428562] |
Chr5:75411069 [GRCh38]
Chr5:74706894 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001130105.1(CERT1):c.52G>C (p.Ala18Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004428581] |
Chr5:75511793 [GRCh38]
Chr5:74807618 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-297G>T |
single nucleotide variant |
Inborn genetic diseases [RCV004428585] |
Chr5:75511504 [GRCh38]
Chr5:74807329 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-221G>A |
single nucleotide variant |
Inborn genetic diseases [RCV004428566] |
Chr5:75511428 [GRCh38]
Chr5:74807253 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1285G>A (p.Val429Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004428567] |
Chr5:75386034 [GRCh38]
Chr5:74681859 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1861C>T (p.Pro621Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004428569] |
Chr5:75379360 [GRCh38]
Chr5:74675185 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-140C>T |
single nucleotide variant |
Inborn genetic diseases [RCV004428571] |
Chr5:75511347 [GRCh38]
Chr5:74807172 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.473G>T (p.Arg158Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004428584] |
Chr5:75425483 [GRCh38]
Chr5:74721308 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.800T>C (p.Val267Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004428560] |
Chr5:75416913 [GRCh38]
Chr5:74712738 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.127C>T (p.Arg43Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004428580] |
Chr5:75506086 [GRCh38]
Chr5:74801911 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-150C>T |
single nucleotide variant |
Inborn genetic diseases [RCV004428570] |
Chr5:75511357 [GRCh38]
Chr5:74807182 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.64C>T (p.Pro22Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004428579] |
Chr5:75511144 [GRCh38]
Chr5:74806969 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1090A>G (p.Thr364Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004428563] |
Chr5:75400225 [GRCh38]
Chr5:74696050 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-78T>C |
single nucleotide variant |
Inborn genetic diseases [RCV004428574] |
Chr5:75511285 [GRCh38]
Chr5:74807110 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.47C>T (p.Pro16Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004428578] |
Chr5:75511161 [GRCh38]
Chr5:74806986 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_001379029.1(CERT1):c.1489-6C>T |
single nucleotide variant |
not provided [RCV000898870] |
Chr5:75382083 [GRCh38]
Chr5:74677908 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_001379029.1(CERT1):c.1104C>A (p.Val368=) |
single nucleotide variant |
not provided [RCV000918116] |
Chr5:75400211 [GRCh38]
Chr5:74696036 [GRCh37]
Chr5:5q13.3 |
benign|likely benign |
| NM_001379029.1(CERT1):c.1489-6_1489-5insA |
insertion |
not provided [RCV000898869] |
Chr5:75382082..75382083 [GRCh38]
Chr5:74677907..74677908 [GRCh37]
Chr5:5q13.3 |
likely benign |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32 |
uncertain significance |
| NM_001379029.1(CERT1):c.349-3dup |
duplication |
Intellectual disability, autosomal dominant 34 [RCV000986117] |
Chr5:75426480..75426481 [GRCh38]
Chr5:74722305..74722306 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1504_1511del (p.Ser502fs) |
deletion |
not provided [RCV001765438] |
Chr5:75382055..75382062 [GRCh38]
Chr5:74677880..74677887 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1074C>G (p.Ala358=) |
single nucleotide variant |
not provided [RCV001727326] |
Chr5:75400241 [GRCh38]
Chr5:74696066 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NC_000005.9:g.(?_73980960)_(75008762_?)dup |
duplication |
Sandhoff disease [RCV003111342]|not provided [RCV003122290] |
Chr5:73980960..75008762 [GRCh37]
Chr5:5q13.3 |
uncertain significance|no classifications from unflagged records |
| NM_001379029.1(CERT1):c.-199CCT[1] |
microsatellite |
not specified [RCV002247071] |
Chr5:75511401..75511403 [GRCh38]
Chr5:74807226..74807228 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.238G>A (p.Asp80Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003341548]|Intellectual disability, autosomal dominant 34 [RCV003144823] |
Chr5:75459175 [GRCh38]
Chr5:74755000 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-41A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV003144821] |
Chr5:75511248 [GRCh38]
Chr5:74807073 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-140C>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV003144822] |
Chr5:75511347 [GRCh38]
Chr5:74807172 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1154G>T (p.Ser385Ile) |
single nucleotide variant |
not provided [RCV003318952] |
Chr5:75399344 [GRCh38]
Chr5:74695169 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1610G>A (p.Ser537Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003346170] |
Chr5:75381956 [GRCh38]
Chr5:74677781 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1636C>T (p.Arg546Cys) |
single nucleotide variant |
not specified [RCV003404946] |
Chr5:75381183 [GRCh38]
Chr5:74677008 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-52C>T |
single nucleotide variant |
not provided [RCV003428546] |
Chr5:75511259 [GRCh38]
Chr5:74807084 [GRCh37]
Chr5:5q13.3 |
likely benign |
| NM_001379029.1(CERT1):c.1201G>T (p.Val401Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 34 [RCV003492971] |
Chr5:75389675 [GRCh38]
Chr5:74685500 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.1189-8T>C |
single nucleotide variant |
CERT1-related condition [RCV003974460] |
Chr5:75389695 [GRCh38]
Chr5:74685520 [GRCh37]
Chr5:5q13.3 |
benign |
| NM_001379029.1(CERT1):c.-108G>A |
single nucleotide variant |
Inborn genetic diseases [RCV004428573] |
Chr5:75511315 [GRCh38]
Chr5:74807140 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-68G>A |
single nucleotide variant |
Inborn genetic diseases [RCV004428575] |
Chr5:75511275 [GRCh38]
Chr5:74807100 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
| NM_001379029.1(CERT1):c.-15G>T |
single nucleotide variant |
Inborn genetic diseases [RCV004428577] |
Chr5:75511222 [GRCh38]
Chr5:74807047 [GRCh37]
Chr5:5q13.3 |
uncertain significance |
