| NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000023966]|Hereditary cancer-predisposing syndrome [RCV003445082]|not provided [RCV001269522] |
Chr17:7702770 [GRCh38]
Chr17:7606088 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000023967] |
Chr17:7702514 [GRCh38]
Chr17:7605832 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000034151]|not provided [RCV003556106] |
Chr17:7703027 [GRCh38]
Chr17:7606345 [GRCh37]
Chr17:17p13.1 |
pathogenic|uncertain significance |
| NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000034152]|not provided [RCV000439983] |
Chr17:7689284 [GRCh38]
Chr17:7592602 [GRCh37]
Chr17:17p13.1 |
pathogenic|likely pathogenic |
| GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 |
copy number loss |
See cases [RCV000051043] |
Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1 |
pathogenic |
| GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] |
Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1 |
pathogenic |
| GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] |
Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1 |
pathogenic |
| GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 |
copy number loss |
See cases [RCV000053426] |
Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.1510T>C (p.Ser504Pro) |
single nucleotide variant |
not provided [RCV000087231] |
Chr17:7703349 [GRCh38]
Chr17:7606667 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_000546.6(TP53):c.-29+4A>C |
single nucleotide variant |
not provided [RCV000115714] |
Chr17:7687373 [GRCh38]
Chr17:7590691 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_000546.6(TP53):c.-48G>A |
single nucleotide variant |
not provided [RCV000766934]|not specified [RCV000255854] |
Chr17:7687396 [GRCh38]
Chr17:7590714 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7589449)_(7591611_?)dup |
duplication |
Li-Fraumeni syndrome [RCV001303985] |
Chr17:7589449..7591611 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 |
copy number gain |
See cases [RCV000134851] |
Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12 |
pathogenic |
| GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 |
copy number loss |
See cases [RCV000138214] |
Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1 |
pathogenic |
| GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 |
copy number gain |
See cases [RCV000138220] |
Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1 |
likely pathogenic |
| GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 |
copy number gain |
See cases [RCV000138531] |
Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12 |
pathogenic |
| GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 |
copy number gain |
See cases [RCV000142236] |
Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12 |
pathogenic |
| NM_000546.6(TP53):c.-29+269G>A |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV000209221] |
Chr17:7687108 [GRCh38]
Chr17:7590426 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_000546.6(TP53):c.-42C>T |
single nucleotide variant |
not provided [RCV000236168] |
Chr17:7687390 [GRCh38]
Chr17:7590708 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1308T>C (p.Ala436=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002379080]|Dyskeratosis congenita, autosomal recessive 3 [RCV000268114]|not provided [RCV001517061]|not specified [RCV000243504] |
Chr17:7703032 [GRCh38]
Chr17:7606350 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002418084]|Dyskeratosis congenita, autosomal recessive 3 [RCV000989732]|Li-Fraumeni syndrome [RCV000354405]|not provided [RCV001516489]|not specified [RCV000253368] |
Chr17:7688850 [GRCh38]
Chr17:7592168 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.1565C>G (p.Ala522Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002401960]|Dyskeratosis congenita, autosomal recessive 3 [RCV000262444]|not provided [RCV001516491]|not specified [RCV000243801] |
Chr17:7703404 [GRCh38]
Chr17:7606722 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.1641G>T (p.Leu547=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002392769]|not provided [RCV000970322]|not specified [RCV000248808] |
Chr17:7703480 [GRCh38]
Chr17:7606798 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) |
single nucleotide variant |
not provided [RCV000970320]|not specified [RCV000251491] |
Chr17:7702801 [GRCh38]
Chr17:7606119 [GRCh37]
Chr17:17p13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) |
single nucleotide variant |
Dyskeratosis Congenita, Recessive [RCV000373750]|Dyskeratosis congenita, autosomal recessive 3 [RCV001123317]|Li-Fraumeni syndrome [RCV000261887]|not provided [RCV000891035]|not specified [RCV000245377] |
Chr17:7689055 [GRCh38]
Chr17:7592373 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000758245]|not provided [RCV000971646]|not specified [RCV000248054] |
Chr17:7703083 [GRCh38]
Chr17:7606401 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_001143992.2(WRAP53):c.1482A>G (p.Glu494=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002392768]|not provided [RCV000970321]|not specified [RCV000253014] |
Chr17:7703321 [GRCh38]
Chr17:7606639 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002338806]|Dyskeratosis congenita, autosomal recessive 3 [RCV000350559]|Li-Fraumeni syndrome [RCV000319448]|not provided [RCV001516490]|not specified [RCV000250737] |
Chr17:7689242 [GRCh38]
Chr17:7592560 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_001143992.2(WRAP53):c.1448G>A (p.Arg483His) |
single nucleotide variant |
Dyskeratosis congenita [RCV004021717]|Dyskeratosis congenita, autosomal recessive 3 [RCV000354894]|not provided [RCV002524446] |
Chr17:7703287 [GRCh38]
Chr17:7606605 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.834G>A (p.Thr278=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000309518]|not provided [RCV000899517] |
Chr17:7701668 [GRCh38]
Chr17:7604986 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.1269-13C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000360411]|not provided [RCV002056639] |
Chr17:7702980 [GRCh38]
Chr17:7606298 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.822+6G>A |
single nucleotide variant |
Dyskeratosis Congenita, Recessive [RCV000315520]|not provided [RCV002521127] |
Chr17:7701555 [GRCh38]
Chr17:7604873 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.936C>T (p.Cys312=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002446585]|Dyskeratosis congenita, autosomal recessive 3 [RCV000366576]|not provided [RCV000957540]|not specified [RCV000502472] |
Chr17:7701770 [GRCh38]
Chr17:7605088 [GRCh37]
Chr17:17p13.1 |
benign|likely benign|uncertain significance |
| NM_000546.6(TP53):c.-102C>G |
single nucleotide variant |
Dyskeratosis Congenita, Recessive [RCV000272984]|Li-Fraumeni syndrome 1 [RCV001126970] |
Chr17:7687450 [GRCh38]
Chr17:7590768 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_018081.2(WRAP53):c.-255G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000328190] |
Chr17:7688394 [GRCh38]
Chr17:7591712 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.495C>T (p.Ser165=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000399881]|not provided [RCV002056637] |
Chr17:7689287 [GRCh38]
Chr17:7592605 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.187G>A (p.Val63Met) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000379376]|not provided [RCV001352316]|not specified [RCV001820979] |
Chr17:7688835 [GRCh38]
Chr17:7592153 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.-52C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000378116] |
Chr17:7688511 [GRCh38]
Chr17:7591829 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.-2+2T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000264908] |
Chr17:7688563 [GRCh38]
Chr17:7591881 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.431+15C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000293257]|not provided [RCV001518044] |
Chr17:7689094 [GRCh38]
Chr17:7592412 [GRCh37]
Chr17:17p13.1 |
benign|likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.395C>A (p.Thr132Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV002374554]|Dyskeratosis congenita, autosomal recessive 3 [RCV000768138]|not provided [RCV001363759] |
Chr17:7689043 [GRCh38]
Chr17:7592361 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.822+10G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000344488]|not provided [RCV002056638] |
Chr17:7701559 [GRCh38]
Chr17:7604877 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.976G>A (p.Gly326Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV004686581]|Dyskeratosis congenita, autosomal recessive 3 [RCV000264649]|not provided [RCV002524445] |
Chr17:7702364 [GRCh38]
Chr17:7605682 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1035C>T (p.Tyr345=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000303391]|not provided [RCV001445333] |
Chr17:7702423 [GRCh38]
Chr17:7605741 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.823-10C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000407428]|not provided [RCV000880548]|not specified [RCV001820980] |
Chr17:7701647 [GRCh38]
Chr17:7604965 [GRCh37]
Chr17:17p13.1 |
benign|likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002422639]|Dyskeratosis congenita, autosomal recessive 3 [RCV000758244]|not provided [RCV000971645]|not specified [RCV001816813] |
Chr17:7701534 [GRCh38]
Chr17:7604852 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_001143992.2(WRAP53):c.1564del (p.Ala522fs) |
deletion |
Dyskeratosis congenita, autosomal recessive 3 [RCV000490484]|Hereditary cancer-predisposing syndrome [RCV001005032]|not provided [RCV001853393] |
Chr17:7703397 [GRCh38]
Chr17:7606715 [GRCh37]
Chr17:17p13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000546.6(TP53):c.-94C>T |
single nucleotide variant |
Dyskeratosis Congenita, Recessive [RCV000362841]|Li-Fraumeni syndrome 1 [RCV001124313] |
Chr17:7687442 [GRCh38]
Chr17:7590760 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143990.2(WRAP53):c.-1-313T>G |
single nucleotide variant |
Dyskeratosis Congenita, Recessive [RCV000312883] |
Chr17:7688335 [GRCh38]
Chr17:7591653 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1403+6C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000316411] |
Chr17:7703133 [GRCh38]
Chr17:7606451 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_018081.2(WRAP53):c.-245G>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001126972]|Li-Fraumeni syndrome [RCV000369933]|not provided [RCV004703910] |
Chr17:7688404 [GRCh38]
Chr17:7591722 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_000546.6(TP53):c.-73C>A |
single nucleotide variant |
Dyskeratosis Congenita, Recessive [RCV000308260]|Li-Fraumeni syndrome [RCV000276492] |
Chr17:7687421 [GRCh38]
Chr17:7590739 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_018081.2(WRAP53):c.-206G>A |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001126973]|Li-Fraumeni syndrome [RCV000401449] |
Chr17:7688443 [GRCh38]
Chr17:7591761 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) |
single nucleotide variant |
Dyskeratosis Congenita, Recessive [RCV000324830]|Dyskeratosis congenita [RCV002323530]|Dyskeratosis congenita, autosomal recessive 3 [RCV001127388]|Li-Fraumeni syndrome [RCV000297658]|WRAP53-related disorder [RCV003969925]|not provided [RCV000957539]|not specified [RCV000507427] |
Chr17:7688679 [GRCh38]
Chr17:7591997 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NC_000017.11:g.(?_7669603)_(8382316_?)del |
deletion |
Diamond-Blackfan anemia [RCV000538057]|Dyskeratosis congenita [RCV001382188]|Li-Fraumeni syndrome [RCV003105948] |
Chr17:7669603..8382316 [GRCh38]
Chr17:7572921..8285634 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 |
copy number loss |
See cases [RCV000445992] |
Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.1075C>T (p.Pro359Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV002418337]|WRAP53-related disorder [RCV003942461]|not provided [RCV000767151]|not specified [RCV000426413] |
Chr17:7702463 [GRCh38]
Chr17:7605781 [GRCh37]
Chr17:17p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001143992.2(WRAP53):c.1226G>T (p.Arg409Leu) |
single nucleotide variant |
not provided [RCV000437085] |
Chr17:7702804 [GRCh38]
Chr17:7606122 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_000546.5(TP53):c.-202_*1207del |
deletion |
Li-Fraumeni syndrome [RCV000231533] |
Chr17:7668402..7687550 [GRCh38]
Chr17:7571720..7590868 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_000546.5(TP53):c.-202_-29+?del |
deletion |
Li-Fraumeni syndrome [RCV000240300] |
Chr17:7687377..7687550 [GRCh38]
Chr17:7590695..7590868 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NM_000546.5(TP53):c.-202_-29+?dup174 |
duplication |
Li-Fraumeni syndrome [RCV000240594] |
Chr17:7687377..7687550 [GRCh38]
Chr17:7590695..7590868 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1366_1367del (p.Ser456fs) |
deletion |
not provided [RCV000481907] |
Chr17:7703089..7703090 [GRCh38]
Chr17:7606407..7606408 [GRCh37]
Chr17:17p13.1 |
likely pathogenic|uncertain significance |
| NM_001143992.2(WRAP53):c.621G>A (p.Glu207=) |
single nucleotide variant |
not provided [RCV002060150]|not specified [RCV000501078] |
Chr17:7689680 [GRCh38]
Chr17:7592998 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.615G>A (p.Glu205=) |
single nucleotide variant |
not provided [RCV002056888]|not specified [RCV000503515] |
Chr17:7689674 [GRCh38]
Chr17:7592992 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1019A>G (p.Tyr340Cys) |
single nucleotide variant |
not specified [RCV000503938] |
Chr17:7702407 [GRCh38]
Chr17:7605725 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_000546.6(TP53):c.-111A>G |
single nucleotide variant |
not specified [RCV000504146] |
Chr17:7687459 [GRCh38]
Chr17:7590777 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.893G>A (p.Arg298Gln) |
single nucleotide variant |
Dyskeratosis congenita [RCV004023409]|not provided [RCV001362990]|not specified [RCV000504521] |
Chr17:7701727 [GRCh38]
Chr17:7605045 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1564G>A (p.Ala522Thr) |
single nucleotide variant |
not specified [RCV000502348] |
Chr17:7703403 [GRCh38]
Chr17:7606721 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.729C>A (p.Ser243=) |
single nucleotide variant |
not provided [RCV001398140]|not specified [RCV000500836] |
Chr17:7700827 [GRCh38]
Chr17:7604145 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 |
copy number gain |
See cases [RCV000511388] |
Chr17:7431013..9868179 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 |
copy number gain |
See cases [RCV000511786] |
Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626431] |
Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1 |
drug response |
| NM_000546.6(TP53):c.-29+9C>T |
single nucleotide variant |
not specified [RCV000616845] |
Chr17:7687368 [GRCh38]
Chr17:7590686 [GRCh37]
Chr17:17p13.1 |
likely benign |
| GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1 |
copy number loss |
Vascular endothelial growth factor (VEGF) inhibitor response [RCV000626434] |
Chr17:7603519..7768486 [GRCh38]
Chr17:7506837..7671804 [GRCh37]
Chr17:17p13.1 |
drug response |
| NC_000017.10:g.(?_7576847)_(7591611_?)dup |
duplication |
Li-Fraumeni syndrome [RCV000633420] |
Chr17:7673529..7688293 [GRCh38]
Chr17:7576847..7591611 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 |
copy number gain |
not provided [RCV000683866] |
Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12 |
pathogenic |
| NM_001143992.2(WRAP53):c.550A>C (p.Ile184Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV000768139]|WRAP53-related disorder [RCV003392581] |
Chr17:7689609 [GRCh38]
Chr17:7592927 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_001143990.2(WRAP53):c.-1-448dup |
duplication |
not provided [RCV001539979] |
Chr17:7688193..7688194 [GRCh38]
Chr17:7591511..7591512 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.956-8C>T |
single nucleotide variant |
WRAP53-related disorder [RCV003960537]|not provided [RCV000939785] |
Chr17:7702336 [GRCh38]
Chr17:7605654 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.531-106C>T |
single nucleotide variant |
not provided [RCV001640940] |
Chr17:7689484 [GRCh38]
Chr17:7592802 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.732C>T (p.Tyr244=) |
single nucleotide variant |
Dyskeratosis congenita [RCV004678860]|Dyskeratosis congenita, autosomal recessive 3 [RCV002507558]|not provided [RCV000881613]|not specified [RCV001817074] |
Chr17:7701459 [GRCh38]
Chr17:7604777 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1245G>A (p.Gln415=) |
single nucleotide variant |
not provided [RCV000926016] |
Chr17:7702823 [GRCh38]
Chr17:7606141 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs) |
deletion |
Dyskeratosis congenita, autosomal recessive 3 [RCV000778521]|not provided [RCV001856160] |
Chr17:7688665..7688666 [GRCh38]
Chr17:7591983..7591984 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.846G>A (p.Ser282=) |
single nucleotide variant |
not provided [RCV000917643] |
Chr17:7701680 [GRCh38]
Chr17:7604998 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1521C>T (p.His507=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002390916]|Dyskeratosis congenita, autosomal recessive 3 [RCV001125416]|WRAP53-related disorder [RCV003933091]|not provided [RCV000919316] |
Chr17:7703360 [GRCh38]
Chr17:7606678 [GRCh37]
Chr17:17p13.1 |
benign|likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.558C>T (p.Thr186=) |
single nucleotide variant |
not provided [RCV000914342] |
Chr17:7689617 [GRCh38]
Chr17:7592935 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1573T>C (p.Ser525Pro) |
single nucleotide variant |
Dyskeratosis congenita [RCV004291381] |
Chr17:7703412 [GRCh38]
Chr17:7606730 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1118del (p.Leu373fs) |
deletion |
Dyskeratosis congenita, autosomal recessive 3 [RCV000791190] |
Chr17:7702506 [GRCh38]
Chr17:7605824 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.11:g.(?_7669599)_(7688293_?)del |
deletion |
Li-Fraumeni syndrome [RCV000816616] |
Chr17:7669599..7688293 [GRCh38]
Chr17:7572917..7591611 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.11:g.(?_7669599)_(8382320_?)del |
deletion |
Li-Fraumeni syndrome [RCV000803922] |
Chr17:7669599..8382320 [GRCh38]
Chr17:7572917..8285638 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.11:g.(?_7687606)_(7688293_?)del |
deletion |
Li-Fraumeni syndrome [RCV000808640] |
Chr17:7687606..7688293 [GRCh38]
Chr17:7590924..7591611 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_7576843)_(7591611_?)dup |
duplication |
Li-Fraumeni syndrome [RCV000823980] |
Chr17:7673525..7688293 [GRCh38]
Chr17:7576843..7591611 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.11:g.(?_7673525)_(7703486_?)dup |
duplication |
Li-Fraumeni syndrome [RCV001031488] |
Chr17:7576843..7606804 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_000546.6(TP53):c.-43G>T |
single nucleotide variant |
Squamous cell carcinoma of the head and neck [RCV000989731] |
Chr17:7687391 [GRCh38]
Chr17:7590709 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NC_000017.10:g.(?_7589449)_(7590046_?)dup |
duplication |
Li-Fraumeni syndrome [RCV000800682] |
Chr17:7686131..7686728 [GRCh38]
Chr17:7589449..7590046 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.11:g.(?_7686131)_(7689711_?)del |
deletion |
Li-Fraumeni syndrome [RCV001032547] |
Chr17:7589449..7593029 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_6589506)_(8151374_?)dup |
duplication |
Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] |
Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.530+6G>T |
single nucleotide variant |
not provided [RCV001209300] |
Chr17:7689328 [GRCh38]
Chr17:7592646 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1522G>A (p.Val508Ile) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV002480692]|not provided [RCV001210125] |
Chr17:7703361 [GRCh38]
Chr17:7606679 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_000546.6(TP53):c.-29+5G>T |
single nucleotide variant |
Squamous cell carcinoma of the head and neck [RCV000989730] |
Chr17:7687372 [GRCh38]
Chr17:7590690 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1566G>T (p.Ala522=) |
single nucleotide variant |
not provided [RCV003104771] |
Chr17:7703405 [GRCh38]
Chr17:7606723 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.822+15A>G |
single nucleotide variant |
not provided [RCV003107573] |
Chr17:7701564 [GRCh38]
Chr17:7604882 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1268+47G>A |
single nucleotide variant |
not provided [RCV001550670] |
Chr17:7702893 [GRCh38]
Chr17:7606211 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NC_000017.10:g.(?_7123304)_(7606804_?)del |
deletion |
Common variable immunodeficiency [RCV003107751] |
Chr17:7123304..7606804 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.642+116C>T |
single nucleotide variant |
not provided [RCV001555936] |
Chr17:7689817 [GRCh38]
Chr17:7593135 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143990.2(WRAP53):c.-1-426T>C |
single nucleotide variant |
not provided [RCV001556160] |
Chr17:7688222 [GRCh38]
Chr17:7591540 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.361C>G (p.Pro121Ala) |
single nucleotide variant |
not provided [RCV001889154] |
Chr17:7689009 [GRCh38]
Chr17:7592327 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143990.2(WRAP53):c.-1-412G>A |
single nucleotide variant |
not provided [RCV001685318] |
Chr17:7688236 [GRCh38]
Chr17:7591554 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.18T>A (p.Thr6=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003169255]|not provided [RCV000896996] |
Chr17:7688666 [GRCh38]
Chr17:7591984 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002400006]|Dyskeratosis congenita, autosomal recessive 3 [RCV001127518]|not provided [RCV000910768]|not specified [RCV001818828] |
Chr17:7703405 [GRCh38]
Chr17:7606723 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_001143992.2(WRAP53):c.144G>A (p.Gly48=) |
single nucleotide variant |
not provided [RCV000980572] |
Chr17:7688792 [GRCh38]
Chr17:7592110 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1302C>T (p.Ser434=) |
single nucleotide variant |
not provided [RCV000909481] |
Chr17:7703026 [GRCh38]
Chr17:7606344 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.774C>T (p.Asp258=) |
single nucleotide variant |
not provided [RCV000924258] |
Chr17:7701501 [GRCh38]
Chr17:7604819 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.129G>A (p.Pro43=) |
single nucleotide variant |
not provided [RCV000924693] |
Chr17:7688777 [GRCh38]
Chr17:7592095 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.720A>G (p.Pro240=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002372558]|Dyskeratosis congenita, autosomal recessive 3 [RCV001123320]|WRAP53-related disorder [RCV004754632]|not provided [RCV000920723] |
Chr17:7700818 [GRCh38]
Chr17:7604136 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.330C>T (p.Asn110=) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001127390]|not provided [RCV002070083] |
Chr17:7688978 [GRCh38]
Chr17:7592296 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NC_000017.11:g.(?_7669599)_(7688293_?)dup |
duplication |
Li-Fraumeni syndrome [RCV001033630] |
Chr17:7572917..7591611 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1352C>T (p.Pro451Leu) |
single nucleotide variant |
not provided [RCV001228103] |
Chr17:7703076 [GRCh38]
Chr17:7606394 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.643-191A>T |
single nucleotide variant |
not provided [RCV001621077] |
Chr17:7700550 [GRCh38]
Chr17:7603868 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.731+36C>A |
single nucleotide variant |
not provided [RCV001560769] |
Chr17:7700865 [GRCh38]
Chr17:7604183 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.838G>A (p.Ala280Thr) |
single nucleotide variant |
Malignant tumor of breast [RCV001005039] |
Chr17:7701672 [GRCh38]
Chr17:7604990 [GRCh37]
Chr17:17p13.1 |
risk factor|uncertain significance |
| NM_001143992.2(WRAP53):c.642+300T>C |
single nucleotide variant |
not provided [RCV001655265] |
Chr17:7690001 [GRCh38]
Chr17:7593319 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.956-110G>T |
single nucleotide variant |
not provided [RCV001714141] |
Chr17:7702234 [GRCh38]
Chr17:7605552 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.643-245dup |
duplication |
not provided [RCV001621060] |
Chr17:7700485..7700486 [GRCh38]
Chr17:7603803..7603804 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.643-4A>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001123319]|not provided [RCV003736989] |
Chr17:7700737 [GRCh38]
Chr17:7604055 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.1268C>T (p.Pro423Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001125415]|not provided [RCV002556717] |
Chr17:7702846 [GRCh38]
Chr17:7606164 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.-23C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001126975] |
Chr17:7688540 [GRCh38]
Chr17:7591858 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.11:g.(?_7686131)_(7703486_?)del |
deletion |
Li-Fraumeni syndrome [RCV001031477] |
Chr17:7589449..7606804 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.11:g.(?_7668434)_(7703137_?)del |
deletion |
Li-Fraumeni syndrome [RCV001033343] |
Chr17:7571752..7606455 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.-1-5T>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001127387] |
Chr17:7688643 [GRCh38]
Chr17:7591961 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.106G>A (p.Ala36Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001127389] |
Chr17:7688754 [GRCh38]
Chr17:7592072 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001127517]|not provided [RCV001309979] |
Chr17:7703376 [GRCh38]
Chr17:7606694 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143990.2(WRAP53):c.-1-411T>A |
single nucleotide variant |
not provided [RCV001681450] |
Chr17:7688237 [GRCh38]
Chr17:7591555 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.432-60C>T |
single nucleotide variant |
not provided [RCV001679500] |
Chr17:7689164 [GRCh38]
Chr17:7592482 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.643-182dup |
duplication |
not provided [RCV001648842] |
Chr17:7700547..7700548 [GRCh38]
Chr17:7603865..7603866 [GRCh37]
Chr17:17p13.1 |
benign |
| NC_000017.11:g.7703701A>G |
single nucleotide variant |
not provided [RCV001679556] |
Chr17:7703701 [GRCh38]
Chr17:7607019 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.860C>T (p.Pro287Leu) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001124413]|not provided [RCV001319751] |
Chr17:7701694 [GRCh38]
Chr17:7605012 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.11:g.(?_7668434)_(7703486_?)dup |
duplication |
Li-Fraumeni syndrome [RCV001033565] |
Chr17:7571752..7606804 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1564dup (p.Ala522fs) |
duplication |
Dyskeratosis congenita [RCV002400262]|Dyskeratosis congenita, autosomal recessive 3 [RCV002053129]|not provided [RCV001045892]|not specified [RCV003151271] |
Chr17:7703396..7703397 [GRCh38]
Chr17:7606714..7606715 [GRCh37]
Chr17:17p13.1 |
pathogenic|uncertain significance |
| NM_001143992.2(WRAP53):c.432-15C>G |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001123318]|not provided [RCV003117770] |
Chr17:7689209 [GRCh38]
Chr17:7592527 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_000546.6(TP53):c.-123C>T |
single nucleotide variant |
Li-Fraumeni syndrome 1 [RCV001126971] |
Chr17:7687471 [GRCh38]
Chr17:7590789 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.-62C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001126974] |
Chr17:7688501 [GRCh38]
Chr17:7591819 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.-1-5T>C |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001127386] |
Chr17:7688643 [GRCh38]
Chr17:7591961 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1627G>A (p.Gly543Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001127519] |
Chr17:7703466 [GRCh38]
Chr17:7606784 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.956-14C>T |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001124414] |
Chr17:7702330 [GRCh38]
Chr17:7605648 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 |
copy number gain |
not provided [RCV001259299] |
Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.1441G>A (p.Gly481Ser) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001267738]|not provided [RCV003120507] |
Chr17:7703280 [GRCh38]
Chr17:7606598 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1561G>T (p.Gly521Trp) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001267739]|not provided [RCV001879774] |
Chr17:7703400 [GRCh38]
Chr17:7606718 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.897T>C (p.Thr299=) |
single nucleotide variant |
Dyskeratosis congenita [RCV004685584] |
Chr17:7701731 [GRCh38]
Chr17:7605049 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.767T>C (p.Ile256Thr) |
single nucleotide variant |
not provided [RCV001308585] |
Chr17:7701494 [GRCh38]
Chr17:7604812 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.358G>A (p.Gly120Arg) |
single nucleotide variant |
not provided [RCV001350597] |
Chr17:7689006 [GRCh38]
Chr17:7592324 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.122T>C (p.Met41Thr) |
single nucleotide variant |
not provided [RCV001321356] |
Chr17:7688770 [GRCh38]
Chr17:7592088 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7578129)_(7593029_?)dup |
duplication |
Li-Fraumeni syndrome [RCV001313395] |
Chr17:7578129..7593029 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1554del (p.Trp518fs) |
deletion |
Dyskeratosis congenita, autosomal recessive, 3 [RCV001294227] |
Chr17:7703392 [GRCh38]
Chr17:7606710 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.1559G>C (p.Gly520Ala) |
single nucleotide variant |
not provided [RCV001299936] |
Chr17:7703398 [GRCh38]
Chr17:7606716 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.847C>T (p.Leu283Phe) |
single nucleotide variant |
not provided [RCV001269523] |
Chr17:7701681 [GRCh38]
Chr17:7604999 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| NC_000017.10:g.(?_7571752)_(7606804_?)dup |
duplication |
Li-Fraumeni syndrome [RCV001303984] |
Chr17:7571752..7606804 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7576843)_(7593029_?)dup |
duplication |
Li-Fraumeni syndrome [RCV001345088] |
Chr17:7576843..7593029 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1564_1565delinsTG (p.Ala522Trp) |
indel |
not provided [RCV001344215] |
Chr17:7703403..7703404 [GRCh38]
Chr17:7606721..7606722 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.794G>A (p.Arg265Gln) |
single nucleotide variant |
not provided [RCV001302235] |
Chr17:7701521 [GRCh38]
Chr17:7604839 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1A>G (p.Met1Val) |
single nucleotide variant |
not provided [RCV001869692]|not specified [RCV001819412] |
Chr17:7688649 [GRCh38]
Chr17:7591967 [GRCh37]
Chr17:17p13.1 |
pathogenic|uncertain significance |
| NM_001143992.2(WRAP53):c.1063G>A (p.Asp355Asn) |
single nucleotide variant |
not provided [RCV001344472] |
Chr17:7702451 [GRCh38]
Chr17:7605769 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1127A>C (p.His376Pro) |
single nucleotide variant |
not provided [RCV001363737] |
Chr17:7702515 [GRCh38]
Chr17:7605833 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.815A>G (p.Asn272Ser) |
single nucleotide variant |
not provided [RCV001322600] |
Chr17:7701542 [GRCh38]
Chr17:7604860 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.768C>G (p.Ile256Met) |
single nucleotide variant |
not provided [RCV001352332] |
Chr17:7701495 [GRCh38]
Chr17:7604813 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1560G>T (p.Gly520=) |
single nucleotide variant |
not provided [RCV001295390] |
Chr17:7703399 [GRCh38]
Chr17:7606717 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.478T>C (p.Ser160Pro) |
single nucleotide variant |
not provided [RCV001508434] |
Chr17:7689270 [GRCh38]
Chr17:7592588 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1565_1566delinsGA (p.Ala522Gly) |
indel |
not provided [RCV001521649] |
Chr17:7703404..7703405 [GRCh38]
Chr17:7606722..7606723 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.1332G>A (p.Gly444=) |
single nucleotide variant |
not provided [RCV001437439] |
Chr17:7703056 [GRCh38]
Chr17:7606374 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NC_000017.10:g.(?_7571752)_(7606804_?)del |
deletion |
Li-Fraumeni syndrome [RCV001388745] |
Chr17:7571752..7606804 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_7572921)_(7591661_?)del |
deletion |
Li-Fraumeni syndrome [RCV001388746] |
Chr17:7572921..7591661 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_7578129)_(7593029_?)del |
deletion |
Li-Fraumeni syndrome [RCV001388747] |
Chr17:7578129..7593029 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_7589449)_(7591611_?)del |
deletion |
Li-Fraumeni syndrome [RCV001388748] |
Chr17:7589449..7591611 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.733G>A (p.Val245Met) |
single nucleotide variant |
not provided [RCV001440407] |
Chr17:7701460 [GRCh38]
Chr17:7604778 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1272C>T (p.Thr424=) |
single nucleotide variant |
not provided [RCV001445904] |
Chr17:7702996 [GRCh38]
Chr17:7606314 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.643-246_643-245dup |
duplication |
not provided [RCV001725388] |
Chr17:7700485..7700486 [GRCh38]
Chr17:7603803..7603804 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.1377C>G (p.Pro459=) |
single nucleotide variant |
not provided [RCV001450889] |
Chr17:7703101 [GRCh38]
Chr17:7606419 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.531-128G>A |
single nucleotide variant |
not provided [RCV001669149] |
Chr17:7689462 [GRCh38]
Chr17:7592780 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.643-113G>C |
single nucleotide variant |
not provided [RCV001715864] |
Chr17:7700628 [GRCh38]
Chr17:7603946 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.919C>T (p.Arg307Trp) |
single nucleotide variant |
WRAP53-related disorder [RCV003394082]|not provided [RCV001508435]|not specified [RCV001821803] |
Chr17:7701753 [GRCh38]
Chr17:7605071 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_6328780)_(7606804_?)dup |
duplication |
Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] |
Chr17:6328780..7606804 [GRCh37]
Chr17:17p13.2-13.1 |
uncertain significance |
| NM_000546.6(TP53):c.-29+1del |
deletion |
Hereditary cancer-predisposing syndrome [RCV002255918] |
Chr17:7687376 [GRCh38]
Chr17:7590694 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1049del (p.Gly350fs) |
deletion |
Dyskeratosis congenita, autosomal recessive 3 [RCV002488541]|not provided [RCV001766899] |
Chr17:7702435 [GRCh38]
Chr17:7605753 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.433G>A (p.Ala145Thr) |
single nucleotide variant |
not provided [RCV001761484] |
Chr17:7689225 [GRCh38]
Chr17:7592543 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1558G>C (p.Gly520Arg) |
single nucleotide variant |
not provided [RCV001754469] |
Chr17:7703397 [GRCh38]
Chr17:7606715 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1034A>G (p.Tyr345Cys) |
single nucleotide variant |
not provided [RCV001754956] |
Chr17:7702422 [GRCh38]
Chr17:7605740 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1436C>A (p.Ala479Asp) |
single nucleotide variant |
not provided [RCV001770800] |
Chr17:7703275 [GRCh38]
Chr17:7606593 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.988T>C (p.Cys330Arg) |
single nucleotide variant |
not provided [RCV001772372] |
Chr17:7702376 [GRCh38]
Chr17:7605694 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1168G>A (p.Ala390Thr) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV001788955] |
Chr17:7702746 [GRCh38]
Chr17:7606064 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.159G>T (p.Leu53Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV004040254]|not provided [RCV001774390] |
Chr17:7688807 [GRCh38]
Chr17:7592125 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.507dup (p.Asn170fs) |
duplication |
not provided [RCV001752539] |
Chr17:7689298..7689299 [GRCh38]
Chr17:7592616..7592617 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.781A>C (p.Thr261Pro) |
single nucleotide variant |
not provided [RCV001770809] |
Chr17:7701508 [GRCh38]
Chr17:7604826 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1159C>T (p.Arg387Cys) |
single nucleotide variant |
not provided [RCV001794793] |
Chr17:7702547 [GRCh38]
Chr17:7605865 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_000546.6(TP53):c.-1731G>C |
single nucleotide variant |
not specified [RCV001817793] |
Chr17:7689079 [GRCh38]
Chr17:7592397 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1501C>G (p.Pro501Ala) |
single nucleotide variant |
not specified [RCV001820586] |
Chr17:7703340 [GRCh38]
Chr17:7606658 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_000546.5(TP53):c.-1635C>T |
single nucleotide variant |
not specified [RCV001822377] |
Chr17:7688983 [GRCh38]
Chr17:7592301 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1558G>T (p.Gly520Trp) |
single nucleotide variant |
not provided [RCV001869786]|not specified [RCV001817810] |
Chr17:7703397 [GRCh38]
Chr17:7606715 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1324A>G (p.Thr442Ala) |
single nucleotide variant |
not specified [RCV001819281] |
Chr17:7703048 [GRCh38]
Chr17:7606366 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.560A>C (p.Asn187Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV004040973]|not provided [RCV001885333]|not specified [RCV001819382] |
Chr17:7689619 [GRCh38]
Chr17:7592937 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_000546.5(TP53):c.-1650T>G |
single nucleotide variant |
not specified [RCV001819600] |
Chr17:7688998 [GRCh38]
Chr17:7592316 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1095G>C (p.Gly365=) |
single nucleotide variant |
not specified [RCV001822481] |
Chr17:7702483 [GRCh38]
Chr17:7605801 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1040G>A (p.Arg347His) |
single nucleotide variant |
not provided [RCV001885352]|not specified [RCV001822654] |
Chr17:7702428 [GRCh38]
Chr17:7605746 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.497C>T (p.Thr166Ile) |
single nucleotide variant |
not provided [RCV001889059] |
Chr17:7689289 [GRCh38]
Chr17:7592607 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.14A>C (p.Glu5Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV004043787]|not provided [RCV001987874] |
Chr17:7688662 [GRCh38]
Chr17:7591980 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.828_829delinsAG (p.Leu277Val) |
indel |
not provided [RCV001895972] |
Chr17:7701662..7701663 [GRCh38]
Chr17:7604980..7604981 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1619C>A (p.Thr540Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV004038996]|not provided [RCV001874090] |
Chr17:7703458 [GRCh38]
Chr17:7606776 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.471C>T (p.Leu157=) |
single nucleotide variant |
not provided [RCV001929927] |
Chr17:7689263 [GRCh38]
Chr17:7592581 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.752A>G (p.Glu251Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV002388901]|not provided [RCV001950241] |
Chr17:7701479 [GRCh38]
Chr17:7604797 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1325C>T (p.Thr442Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV003303630]|not provided [RCV002009257] |
Chr17:7703049 [GRCh38]
Chr17:7606367 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1360G>A (p.Val454Met) |
single nucleotide variant |
not provided [RCV001915502] |
Chr17:7703084 [GRCh38]
Chr17:7606402 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.274C>G (p.Arg92Gly) |
single nucleotide variant |
not provided [RCV001914483] |
Chr17:7688922 [GRCh38]
Chr17:7592240 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.782C>T (p.Thr261Ile) |
single nucleotide variant |
not provided [RCV002044806] |
Chr17:7701509 [GRCh38]
Chr17:7604827 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1508T>C (p.Leu503Pro) |
single nucleotide variant |
not provided [RCV002004623] |
Chr17:7703347 [GRCh38]
Chr17:7606665 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1165-3C>T |
single nucleotide variant |
not provided [RCV001914265] |
Chr17:7702740 [GRCh38]
Chr17:7606058 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.1(chr17:7020054-8086290) |
copy number loss |
not specified [RCV002052585] |
Chr17:7020054..8086290 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.235C>A (p.Leu79Met) |
single nucleotide variant |
not provided [RCV001914268] |
Chr17:7688883 [GRCh38]
Chr17:7592201 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.346G>A (p.Glu116Lys) |
single nucleotide variant |
not provided [RCV001947959] |
Chr17:7688994 [GRCh38]
Chr17:7592312 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.446G>A (p.Ser149Asn) |
single nucleotide variant |
not provided [RCV001985341] |
Chr17:7689238 [GRCh38]
Chr17:7592556 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.792C>T (p.Leu264=) |
single nucleotide variant |
WRAP53-related disorder [RCV003893023]|not provided [RCV001965632] |
Chr17:7701519 [GRCh38]
Chr17:7604837 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1039C>T (p.Arg347Cys) |
single nucleotide variant |
not provided [RCV001926604] |
Chr17:7702427 [GRCh38]
Chr17:7605745 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.1(chr17:7593552-8225803) |
copy number gain |
not specified [RCV002052587] |
Chr17:7593552..8225803 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.937G>A (p.Glu313Lys) |
single nucleotide variant |
not provided [RCV001926819] |
Chr17:7701771 [GRCh38]
Chr17:7605089 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.547T>A (p.Cys183Ser) |
single nucleotide variant |
not provided [RCV002006206] |
Chr17:7689606 [GRCh38]
Chr17:7592924 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1153G>A (p.Gly385Arg) |
single nucleotide variant |
not provided [RCV001967208] |
Chr17:7702541 [GRCh38]
Chr17:7605859 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1468G>A (p.Glu490Lys) |
single nucleotide variant |
not provided [RCV002002240] |
Chr17:7703307 [GRCh38]
Chr17:7606625 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_000546.6(TP53):c.-29+1G>C |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002441237]|Li-Fraumeni syndrome [RCV002031560] |
Chr17:7687376 [GRCh38]
Chr17:7590694 [GRCh37]
Chr17:17p13.1 |
likely pathogenic|uncertain significance |
| NM_001143992.2(WRAP53):c.615G>T (p.Glu205Asp) |
single nucleotide variant |
not provided [RCV002022180] |
Chr17:7689674 [GRCh38]
Chr17:7592992 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.682del (p.Asp228fs) |
deletion |
not provided [RCV002042863] |
Chr17:7700780 [GRCh38]
Chr17:7604098 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.725C>T (p.Thr242Ile) |
single nucleotide variant |
not provided [RCV001947773] |
Chr17:7700823 [GRCh38]
Chr17:7604141 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.916G>A (p.Ala306Thr) |
single nucleotide variant |
not provided [RCV001912856] |
Chr17:7701750 [GRCh38]
Chr17:7605068 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1359del (p.Val454fs) |
deletion |
not provided [RCV001948907] |
Chr17:7703081 [GRCh38]
Chr17:7606399 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.656G>A (p.Arg219Gln) |
single nucleotide variant |
not provided [RCV001928287] |
Chr17:7700754 [GRCh38]
Chr17:7604072 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.748C>T (p.Arg250Trp) |
single nucleotide variant |
not provided [RCV001946502] |
Chr17:7701475 [GRCh38]
Chr17:7604793 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1619C>T (p.Thr540Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV004042601]|not provided [RCV001927627] |
Chr17:7703458 [GRCh38]
Chr17:7606776 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.208G>T (p.Gly70Trp) |
single nucleotide variant |
Dyskeratosis congenita [RCV003994357]|not provided [RCV001928716] |
Chr17:7688856 [GRCh38]
Chr17:7592174 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1241A>G (p.Asn414Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV003167281]|not provided [RCV001926956] |
Chr17:7702819 [GRCh38]
Chr17:7606137 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1132G>A (p.Asp378Asn) |
single nucleotide variant |
Dyskeratosis congenita [RCV004042995]|not provided [RCV001948753] |
Chr17:7702520 [GRCh38]
Chr17:7605838 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.877T>G (p.Phe293Val) |
single nucleotide variant |
not provided [RCV002003315] |
Chr17:7701711 [GRCh38]
Chr17:7605029 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1557_1559del (p.Cys519_Gly520delinsTrp) |
deletion |
Dyskeratosis congenita, autosomal recessive 3 [RCV002053876] |
Chr17:7703395..7703397 [GRCh38]
Chr17:7606713..7606715 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.502C>T (p.Pro168Ser) |
single nucleotide variant |
not provided [RCV001871367] |
Chr17:7689294 [GRCh38]
Chr17:7592612 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1315G>T (p.Val439Leu) |
single nucleotide variant |
not provided [RCV001948556] |
Chr17:7703039 [GRCh38]
Chr17:7606357 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7589449)_(7604157_?)dup |
duplication |
Li-Fraumeni syndrome [RCV001964762] |
Chr17:7589449..7604157 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.915G>A (p.Thr305=) |
single nucleotide variant |
Hereditary cancer [RCV004699563]|not provided [RCV001964810] |
Chr17:7701749 [GRCh38]
Chr17:7605067 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.901C>T (p.Arg301Cys) |
single nucleotide variant |
not provided [RCV001965136] |
Chr17:7701735 [GRCh38]
Chr17:7605053 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.1(chr17:7241916-8692213) |
copy number loss |
not specified [RCV002052586] |
Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| GRCh37/hg19 17p13.1(chr17:7453504-7734096)x3 |
copy number gain |
not provided [RCV001834463] |
Chr17:7453504..7734096 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.256C>T (p.Pro86Ser) |
single nucleotide variant |
not provided [RCV001962351] |
Chr17:7688904 [GRCh38]
Chr17:7592222 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.364_385del (p.Glu122fs) |
deletion |
not provided [RCV001944412] |
Chr17:7689008..7689029 [GRCh38]
Chr17:7592326..7592347 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.400G>A (p.Gly134Arg) |
single nucleotide variant |
not provided [RCV002000417] |
Chr17:7689048 [GRCh38]
Chr17:7592366 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7578518)_(7658855_?)del |
deletion |
Li-Fraumeni syndrome [RCV001962940] |
Chr17:7578518..7658855 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.1326G>A (p.Thr442=) |
single nucleotide variant |
not provided [RCV001980105] |
Chr17:7703050 [GRCh38]
Chr17:7606368 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.1169C>T (p.Ala390Val) |
single nucleotide variant |
not provided [RCV002039047] |
Chr17:7702747 [GRCh38]
Chr17:7606065 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.217G>A (p.Val73Ile) |
single nucleotide variant |
not provided [RCV001944222] |
Chr17:7688865 [GRCh38]
Chr17:7592183 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.658A>G (p.Met220Val) |
single nucleotide variant |
not provided [RCV001880896] |
Chr17:7700756 [GRCh38]
Chr17:7604074 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1404-7C>G |
single nucleotide variant |
not provided [RCV001941185] |
Chr17:7703236 [GRCh38]
Chr17:7606554 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7576843)_(7593029_?)del |
deletion |
Li-Fraumeni syndrome [RCV001959063] |
Chr17:7576843..7593029 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.338T>C (p.Leu113Pro) |
single nucleotide variant |
not provided [RCV002020205] |
Chr17:7688986 [GRCh38]
Chr17:7592304 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.755A>G (p.Asn252Ser) |
single nucleotide variant |
not provided [RCV001962301] |
Chr17:7701482 [GRCh38]
Chr17:7604800 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7571752)_(7591611_?)del |
deletion |
Li-Fraumeni syndrome [RCV001942193] |
Chr17:7571752..7591611 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.1606G>A (p.Gly536Arg) |
single nucleotide variant |
not provided [RCV002030800] |
Chr17:7703445 [GRCh38]
Chr17:7606763 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1138A>T (p.Asn380Tyr) |
single nucleotide variant |
not provided [RCV001919228] |
Chr17:7702526 [GRCh38]
Chr17:7605844 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7571752)_(8135555_?)del |
deletion |
Li-Fraumeni syndrome [RCV003107874] |
Chr17:7571752..8135555 [GRCh37]
Chr17:17p13.1 |
pathogenic|uncertain significance |
| NM_001143992.2(WRAP53):c.457C>G (p.Leu153Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002334873]|not provided [RCV001920608] |
Chr17:7689249 [GRCh38]
Chr17:7592567 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1480G>A (p.Glu494Lys) |
single nucleotide variant |
not provided [RCV001992760] |
Chr17:7703319 [GRCh38]
Chr17:7606637 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.806G>A (p.Arg269His) |
single nucleotide variant |
not provided [RCV001956016] |
Chr17:7701533 [GRCh38]
Chr17:7604851 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1564_1565delinsCG (p.Ala522Arg) |
indel |
not provided [RCV002012122] |
Chr17:7703403..7703404 [GRCh38]
Chr17:7606721..7606722 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.971A>C (p.Gln324Pro) |
single nucleotide variant |
not provided [RCV001920874] |
Chr17:7702359 [GRCh38]
Chr17:7605677 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1024T>C (p.Cys342Arg) |
single nucleotide variant |
not provided [RCV001933169] |
Chr17:7702412 [GRCh38]
Chr17:7605730 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.344AAG[2] (p.Glu117del) |
microsatellite |
not provided [RCV001918493] |
Chr17:7688991..7688993 [GRCh38]
Chr17:7592309..7592311 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7589449)_(7590694_?)dup |
duplication |
Li-Fraumeni syndrome [RCV001974832] |
Chr17:7589449..7590694 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.403dup (p.Glu135fs) |
duplication |
not provided [RCV001980526] |
Chr17:7689047..7689048 [GRCh38]
Chr17:7592365..7592366 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.680A>G (p.Tyr227Cys) |
single nucleotide variant |
not provided [RCV001884382] |
Chr17:7700778 [GRCh38]
Chr17:7604096 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.20A>G (p.Gln7Arg) |
single nucleotide variant |
not provided [RCV001884417] |
Chr17:7688668 [GRCh38]
Chr17:7591986 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1447C>T (p.Arg483Cys) |
single nucleotide variant |
not provided [RCV001989809] |
Chr17:7703286 [GRCh38]
Chr17:7606604 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.46T>G (p.Ser16Ala) |
single nucleotide variant |
not provided [RCV002013041] |
Chr17:7688694 [GRCh38]
Chr17:7592012 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.793C>T (p.Arg265Trp) |
single nucleotide variant |
not provided [RCV001958532] |
Chr17:7701520 [GRCh38]
Chr17:7604838 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.914C>T (p.Thr305Met) |
single nucleotide variant |
not provided [RCV001992447] |
Chr17:7701748 [GRCh38]
Chr17:7605066 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1565del (p.Ala522fs) |
deletion |
not provided [RCV001933878] |
Chr17:7703404 [GRCh38]
Chr17:7606722 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.469C>T (p.Leu157Phe) |
single nucleotide variant |
not provided [RCV001954564] |
Chr17:7689261 [GRCh38]
Chr17:7592579 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1273G>A (p.Gly425Arg) |
single nucleotide variant |
not provided [RCV001992584] |
Chr17:7702997 [GRCh38]
Chr17:7606315 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.305C>T (p.Thr102Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV004043942]|not provided [RCV002014660] |
Chr17:7688953 [GRCh38]
Chr17:7592271 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7590694)_(7606804_?)del |
deletion |
Li-Fraumeni syndrome [RCV001953431] |
Chr17:7590694..7606804 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_7590929)_(7599621_?)del |
deletion |
Li-Fraumeni syndrome [RCV001990217] |
Chr17:7590929..7599621 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1330G>A (p.Gly444Arg) |
single nucleotide variant |
not provided [RCV001931586] |
Chr17:7703054 [GRCh38]
Chr17:7606372 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.920G>A (p.Arg307Gln) |
single nucleotide variant |
not provided [RCV002012182] |
Chr17:7701754 [GRCh38]
Chr17:7605072 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1471_1472del (p.Ser491fs) |
microsatellite |
not provided [RCV001897127] |
Chr17:7703306..7703307 [GRCh38]
Chr17:7606624..7606625 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.833C>T (p.Thr278Met) |
single nucleotide variant |
not provided [RCV001885478] |
Chr17:7701667 [GRCh38]
Chr17:7604985 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.415G>A (p.Glu139Lys) |
single nucleotide variant |
not provided [RCV001900050] |
Chr17:7689063 [GRCh38]
Chr17:7592381 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1563G>T (p.Gly521=) |
single nucleotide variant |
not provided [RCV001938883] |
Chr17:7703402 [GRCh38]
Chr17:7606720 [GRCh37]
Chr17:17p13.1 |
likely benign|uncertain significance |
| NM_001143992.2(WRAP53):c.1193G>A (p.Arg398Gln) |
single nucleotide variant |
not provided [RCV001958329] |
Chr17:7702771 [GRCh38]
Chr17:7606089 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_000546.6(TP53):c.-29+1G>A |
single nucleotide variant |
Li-Fraumeni syndrome [RCV001933347] |
Chr17:7687376 [GRCh38]
Chr17:7590694 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1417C>G (p.Leu473Val) |
single nucleotide variant |
not provided [RCV002034345] |
Chr17:7703256 [GRCh38]
Chr17:7606574 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.611A>G (p.His204Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002352712]|not provided [RCV001981070] |
Chr17:7689670 [GRCh38]
Chr17:7592988 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.668G>C (p.Gly223Ala) |
single nucleotide variant |
not provided [RCV001982183] |
Chr17:7700766 [GRCh38]
Chr17:7604084 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1525C>T (p.His509Tyr) |
single nucleotide variant |
not provided [RCV001906798] |
Chr17:7703364 [GRCh38]
Chr17:7606682 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1135G>A (p.Gly379Ser) |
single nucleotide variant |
not provided [RCV001906181] |
Chr17:7702523 [GRCh38]
Chr17:7605841 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.77C>T (p.Ser26Phe) |
single nucleotide variant |
not provided [RCV001925049] |
Chr17:7688725 [GRCh38]
Chr17:7592043 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.963G>T (p.Lys321Asn) |
single nucleotide variant |
not provided [RCV001977483] |
Chr17:7702351 [GRCh38]
Chr17:7605669 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1517G>A (p.Arg506His) |
single nucleotide variant |
not provided [RCV001903941] |
Chr17:7703356 [GRCh38]
Chr17:7606674 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1394A>G (p.Asn465Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV004043774]|not provided [RCV001992853] |
Chr17:7703118 [GRCh38]
Chr17:7606436 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1225C>T (p.Arg409Ter) |
single nucleotide variant |
not provided [RCV001922892] |
Chr17:7702803 [GRCh38]
Chr17:7606121 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.280G>A (p.Glu94Lys) |
single nucleotide variant |
Dyskeratosis congenita [RCV004043990]|not provided [RCV001952282] |
Chr17:7688928 [GRCh38]
Chr17:7592246 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.142G>C (p.Gly48Arg) |
single nucleotide variant |
not provided [RCV001877593] |
Chr17:7688790 [GRCh38]
Chr17:7592108 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.892C>G (p.Arg298Gly) |
single nucleotide variant |
not provided [RCV001937571] |
Chr17:7701726 [GRCh38]
Chr17:7605044 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.324A>C (p.Glu108Asp) |
single nucleotide variant |
not provided [RCV001973339] |
Chr17:7688972 [GRCh38]
Chr17:7592290 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1484G>C (p.Gly495Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV004044485]|not provided [RCV001994969] |
Chr17:7703323 [GRCh38]
Chr17:7606641 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.479C>T (p.Ser160Phe) |
single nucleotide variant |
not provided [RCV001954325] |
Chr17:7689271 [GRCh38]
Chr17:7592589 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.956-6del |
deletion |
Dyskeratosis congenita, autosomal recessive 3 [RCV002210908] |
Chr17:7702338 [GRCh38]
Chr17:7605656 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1329C>T (p.Asp443=) |
single nucleotide variant |
Dyskeratosis congenita [RCV003355804]|not provided [RCV002088419] |
Chr17:7703053 [GRCh38]
Chr17:7606371 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1620G>A (p.Thr540=) |
single nucleotide variant |
not provided [RCV002105701] |
Chr17:7703459 [GRCh38]
Chr17:7606777 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1056T>C (p.Tyr352=) |
single nucleotide variant |
not provided [RCV002108798] |
Chr17:7702444 [GRCh38]
Chr17:7605762 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.530+20A>G |
single nucleotide variant |
not provided [RCV002190582] |
Chr17:7689342 [GRCh38]
Chr17:7592660 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.24G>A (p.Pro8=) |
single nucleotide variant |
not provided [RCV002107543] |
Chr17:7688672 [GRCh38]
Chr17:7591990 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.765T>C (p.His255=) |
single nucleotide variant |
not provided [RCV002190675] |
Chr17:7701492 [GRCh38]
Chr17:7604810 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.643-12G>T |
single nucleotide variant |
not provided [RCV002208874] |
Chr17:7700729 [GRCh38]
Chr17:7604047 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.732-12T>C |
single nucleotide variant |
not provided [RCV002086611] |
Chr17:7701447 [GRCh38]
Chr17:7604765 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.822+13A>G |
single nucleotide variant |
not provided [RCV002086381] |
Chr17:7701562 [GRCh38]
Chr17:7604880 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.530+14C>T |
single nucleotide variant |
not provided [RCV002086205] |
Chr17:7689336 [GRCh38]
Chr17:7592654 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1268+9C>T |
single nucleotide variant |
not provided [RCV002148969] |
Chr17:7702855 [GRCh38]
Chr17:7606173 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.780C>T (p.Phe260=) |
single nucleotide variant |
WRAP53-related disorder [RCV003958518]|not provided [RCV002165660] |
Chr17:7701507 [GRCh38]
Chr17:7604825 [GRCh37]
Chr17:17p13.1 |
benign|likely benign |
| NM_001143992.2(WRAP53):c.15G>A (p.Glu5=) |
single nucleotide variant |
not provided [RCV002207637] |
Chr17:7688663 [GRCh38]
Chr17:7591981 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.643-18T>C |
single nucleotide variant |
not provided [RCV002207755] |
Chr17:7700723 [GRCh38]
Chr17:7604041 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1560G>C (p.Gly520=) |
single nucleotide variant |
Dyskeratosis congenita [RCV004045768]|not provided [RCV002110979] |
Chr17:7703399 [GRCh38]
Chr17:7606717 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.354G>A (p.Ala118=) |
single nucleotide variant |
not provided [RCV002165014] |
Chr17:7689002 [GRCh38]
Chr17:7592320 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1165-4C>G |
single nucleotide variant |
not provided [RCV002144909] |
Chr17:7702739 [GRCh38]
Chr17:7606057 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1581C>T (p.Ile527=) |
single nucleotide variant |
not provided [RCV002206176] |
Chr17:7703420 [GRCh38]
Chr17:7606738 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.405A>G (p.Glu135=) |
single nucleotide variant |
not provided [RCV002134519] |
Chr17:7689053 [GRCh38]
Chr17:7592371 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.643-13C>T |
single nucleotide variant |
not provided [RCV002093672] |
Chr17:7700728 [GRCh38]
Chr17:7604046 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1173G>A (p.Glu391=) |
single nucleotide variant |
not provided [RCV002093382] |
Chr17:7702751 [GRCh38]
Chr17:7606069 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.956-4C>G |
single nucleotide variant |
not provided [RCV002075156] |
Chr17:7702340 [GRCh38]
Chr17:7605658 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.213C>T (p.Asp71=) |
single nucleotide variant |
not provided [RCV002214999] |
Chr17:7688861 [GRCh38]
Chr17:7592179 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1326G>T (p.Thr442=) |
single nucleotide variant |
not provided [RCV002081044] |
Chr17:7703050 [GRCh38]
Chr17:7606368 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1524C>G (p.Val508=) |
single nucleotide variant |
not provided [RCV002194660] |
Chr17:7703363 [GRCh38]
Chr17:7606681 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.643-17C>T |
single nucleotide variant |
not provided [RCV002097666] |
Chr17:7700724 [GRCh38]
Chr17:7604042 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.81C>T (p.Pro27=) |
single nucleotide variant |
not provided [RCV002175108] |
Chr17:7688729 [GRCh38]
Chr17:7592047 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.822+9C>T |
single nucleotide variant |
not provided [RCV002105391] |
Chr17:7701558 [GRCh38]
Chr17:7604876 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.303T>C (p.Asn101=) |
single nucleotide variant |
not provided [RCV002080870] |
Chr17:7688951 [GRCh38]
Chr17:7592269 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.732-18T>C |
single nucleotide variant |
not provided [RCV002096626] |
Chr17:7701441 [GRCh38]
Chr17:7604759 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.643-12G>A |
single nucleotide variant |
not provided [RCV002150906] |
Chr17:7700729 [GRCh38]
Chr17:7604047 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1514C>T (p.Thr505Met) |
single nucleotide variant |
Dyskeratosis congenita [RCV003365687]|not provided [RCV002215129] |
Chr17:7703353 [GRCh38]
Chr17:7606671 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.909T>C (p.Phe303=) |
single nucleotide variant |
not provided [RCV002152746] |
Chr17:7701743 [GRCh38]
Chr17:7605061 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1182C>T (p.Cys394=) |
single nucleotide variant |
not provided [RCV002107930] |
Chr17:7702760 [GRCh38]
Chr17:7606078 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.822+9C>A |
single nucleotide variant |
not provided [RCV002076533] |
Chr17:7701558 [GRCh38]
Chr17:7604876 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.996C>T (p.Ala332=) |
single nucleotide variant |
not provided [RCV002078103] |
Chr17:7702384 [GRCh38]
Chr17:7605702 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1608G>A (p.Gly536=) |
single nucleotide variant |
not provided [RCV002113688] |
Chr17:7703447 [GRCh38]
Chr17:7606765 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.711A>T (p.Ser237=) |
single nucleotide variant |
not provided [RCV002080597] |
Chr17:7700809 [GRCh38]
Chr17:7604127 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1131C>T (p.Pro377=) |
single nucleotide variant |
WRAP53-related disorder [RCV003916354]|not provided [RCV002179014] |
Chr17:7702519 [GRCh38]
Chr17:7605837 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1632G>A (p.Val544=) |
single nucleotide variant |
not provided [RCV002100045] |
Chr17:7703471 [GRCh38]
Chr17:7606789 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.570T>C (p.Asp190=) |
single nucleotide variant |
not provided [RCV002160438] |
Chr17:7689629 [GRCh38]
Chr17:7592947 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.138A>G (p.Glu46=) |
single nucleotide variant |
not provided [RCV002138259] |
Chr17:7688786 [GRCh38]
Chr17:7592104 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.643-15C>T |
single nucleotide variant |
not provided [RCV002200221] |
Chr17:7700726 [GRCh38]
Chr17:7604044 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1403+18A>G |
single nucleotide variant |
not provided [RCV002119941] |
Chr17:7703145 [GRCh38]
Chr17:7606463 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.642+20G>A |
single nucleotide variant |
not provided [RCV002198290] |
Chr17:7689721 [GRCh38]
Chr17:7593039 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.33G>C (p.Pro11=) |
single nucleotide variant |
not provided [RCV002202340] |
Chr17:7688681 [GRCh38]
Chr17:7591999 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1646A>G (p.Ter549=) |
single nucleotide variant |
not provided [RCV002084176] |
Chr17:7703485 [GRCh38]
Chr17:7606803 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.642+18C>A |
single nucleotide variant |
not provided [RCV002202857] |
Chr17:7689719 [GRCh38]
Chr17:7593037 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.432-14C>T |
single nucleotide variant |
not provided [RCV002182446] |
Chr17:7689210 [GRCh38]
Chr17:7592528 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1269-5C>T |
single nucleotide variant |
not provided [RCV002162580] |
Chr17:7702988 [GRCh38]
Chr17:7606306 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1080C>T (p.Leu360=) |
single nucleotide variant |
not provided [RCV002198053] |
Chr17:7702468 [GRCh38]
Chr17:7605786 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.604C>T (p.Leu202=) |
single nucleotide variant |
not provided [RCV002162015] |
Chr17:7689663 [GRCh38]
Chr17:7592981 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.531-18A>T |
single nucleotide variant |
not provided [RCV002142974] |
Chr17:7689572 [GRCh38]
Chr17:7592890 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1219C>T (p.Leu407=) |
single nucleotide variant |
not provided [RCV002199879] |
Chr17:7702797 [GRCh38]
Chr17:7606115 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.530+8T>A |
single nucleotide variant |
not provided [RCV002203690] |
Chr17:7689330 [GRCh38]
Chr17:7592648 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.756C>T (p.Asn252=) |
single nucleotide variant |
not provided [RCV002141561] |
Chr17:7701483 [GRCh38]
Chr17:7604801 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.956-17G>T |
single nucleotide variant |
not provided [RCV002098851] |
Chr17:7702327 [GRCh38]
Chr17:7605645 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.912C>T (p.Ser304=) |
single nucleotide variant |
not provided [RCV002162743] |
Chr17:7701746 [GRCh38]
Chr17:7605064 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.792C>G (p.Leu264=) |
single nucleotide variant |
Dyskeratosis congenita [RCV004045850]|not provided [RCV002101368] |
Chr17:7701519 [GRCh38]
Chr17:7604837 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.636A>G (p.Ala212=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002361438]|not provided [RCV002182510] |
Chr17:7689695 [GRCh38]
Chr17:7593013 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.645C>T (p.Val215=) |
single nucleotide variant |
not provided [RCV003110725] |
Chr17:7700743 [GRCh38]
Chr17:7604061 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.732-17G>C |
single nucleotide variant |
not provided [RCV003116928] |
Chr17:7701442 [GRCh38]
Chr17:7604760 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1269-19TC[2] |
microsatellite |
not provided [RCV003113132] |
Chr17:7702974..7702975 [GRCh38]
Chr17:7606292..7606293 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.530+17G>A |
single nucleotide variant |
not provided [RCV003117015] |
Chr17:7689339 [GRCh38]
Chr17:7592657 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1165-12C>T |
single nucleotide variant |
not provided [RCV003117030] |
Chr17:7702731 [GRCh38]
Chr17:7606049 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.955+11G>A |
single nucleotide variant |
not provided [RCV003117045] |
Chr17:7701800 [GRCh38]
Chr17:7605118 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1268+19T>C |
single nucleotide variant |
not provided [RCV003111387] |
Chr17:7702865 [GRCh38]
Chr17:7606183 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.642+18C>T |
single nucleotide variant |
not provided [RCV003111393] |
Chr17:7689719 [GRCh38]
Chr17:7593037 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.265T>A (p.Leu89Met) |
single nucleotide variant |
not provided [RCV003116024] |
Chr17:7688913 [GRCh38]
Chr17:7592231 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7590130)_(7598840_?)del |
deletion |
Li-Fraumeni syndrome [RCV003111416] |
Chr17:7590130..7598840 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7589449)_(7593039_?)del |
deletion |
Li-Fraumeni syndrome [RCV003111417] |
Chr17:7589449..7593039 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_7571752)_(7593029_?)del |
deletion |
Li-Fraumeni syndrome [RCV003111419] |
Chr17:7571752..7593029 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_7120455)_(8151423_?)del |
deletion |
Li-Fraumeni syndrome [RCV003111420] |
Chr17:7120455..8151423 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.928C>T (p.Arg310Ter) |
single nucleotide variant |
not provided [RCV003112733] |
Chr17:7701762 [GRCh38]
Chr17:7605080 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7572921)_(7591611_?)del |
deletion |
Li-Fraumeni syndrome [RCV003111421] |
Chr17:7572921..7591611 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_7571752)_(8285628_?)del |
deletion |
Li-Fraumeni syndrome [RCV003111422] |
Chr17:7571752..8285628 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_7578129)_(7606804_?)dup |
duplication |
Li-Fraumeni syndrome [RCV003111423] |
Chr17:7578129..7606804 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1631T>A (p.Val544Glu) |
single nucleotide variant |
not provided [RCV003116569] |
Chr17:7703470 [GRCh38]
Chr17:7606788 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7123304)_(8193254_?)del |
deletion |
Very long chain acyl-CoA dehydrogenase deficiency [RCV003119081] |
Chr17:7123304..8193254 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.1269-13CT[3] |
microsatellite |
not provided [RCV003119796] |
Chr17:7702980..7702981 [GRCh38]
Chr17:7606298..7606299 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.642+16_642+19del |
deletion |
not provided [RCV003120097] |
Chr17:7689715..7689718 [GRCh38]
Chr17:7593033..7593036 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.303T>G (p.Asn101Lys) |
single nucleotide variant |
not provided [RCV002297392] |
Chr17:7688951 [GRCh38]
Chr17:7592269 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1313C>T (p.Ser438Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002385503]|not provided [RCV003094955] |
Chr17:7703037 [GRCh38]
Chr17:7606355 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.1(chr17:7381537-8068400)x3 |
copy number gain |
not provided [RCV002474996] |
Chr17:7381537..8068400 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.388G>A (p.Glu130Lys) |
single nucleotide variant |
not provided [RCV002838145] |
Chr17:7689036 [GRCh38]
Chr17:7592354 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.728C>T (p.Ser243Phe) |
single nucleotide variant |
Dyskeratosis congenita [RCV002382674] |
Chr17:7700826 [GRCh38]
Chr17:7604144 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.599C>G (p.Pro200Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV002357921]|not provided [RCV003098093] |
Chr17:7689658 [GRCh38]
Chr17:7592976 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1078C>G (p.Leu360Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV002422183] |
Chr17:7702466 [GRCh38]
Chr17:7605784 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.232C>A (p.Pro78Thr) |
single nucleotide variant |
Dyskeratosis congenita [RCV002448187]|not provided [RCV003720624] |
Chr17:7688880 [GRCh38]
Chr17:7592198 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1020T>C (p.Tyr340=) |
single nucleotide variant |
Dyskeratosis congenita [RCV002396190]|not provided [RCV003718553] |
Chr17:7702408 [GRCh38]
Chr17:7605726 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.950C>T (p.Thr317Ile) |
single nucleotide variant |
Dyskeratosis congenita [RCV002374176] |
Chr17:7701784 [GRCh38]
Chr17:7605102 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.248T>C (p.Phe83Ser) |
single nucleotide variant |
not provided [RCV002300187] |
Chr17:7688896 [GRCh38]
Chr17:7592214 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1452_1453del (p.Phe485fs) |
microsatellite |
not provided [RCV002615442] |
Chr17:7703287..7703288 [GRCh38]
Chr17:7606605..7606606 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1296C>T (p.Ser432=) |
single nucleotide variant |
not provided [RCV002615152] |
Chr17:7703020 [GRCh38]
Chr17:7606338 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1437C>G (p.Ala479=) |
single nucleotide variant |
not provided [RCV002615154] |
Chr17:7703276 [GRCh38]
Chr17:7606594 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1404-16C>T |
single nucleotide variant |
not provided [RCV002991681] |
Chr17:7703227 [GRCh38]
Chr17:7606545 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1269-7C>T |
single nucleotide variant |
not provided [RCV002686117] |
Chr17:7702986 [GRCh38]
Chr17:7606304 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.975C>T (p.Ser325=) |
single nucleotide variant |
not provided [RCV002967644] |
Chr17:7702363 [GRCh38]
Chr17:7605681 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.956-3T>C |
single nucleotide variant |
not provided [RCV002615083] |
Chr17:7702341 [GRCh38]
Chr17:7605659 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1565C>T (p.Ala522Val) |
single nucleotide variant |
not provided [RCV003095505] |
Chr17:7703404 [GRCh38]
Chr17:7606722 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.353C>A (p.Ala118Glu) |
single nucleotide variant |
not provided [RCV002616426] |
Chr17:7689001 [GRCh38]
Chr17:7592319 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.577T>C (p.Leu193=) |
single nucleotide variant |
not provided [RCV003097499] |
Chr17:7689636 [GRCh38]
Chr17:7592954 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.54G>C (p.Gln18His) |
single nucleotide variant |
not provided [RCV002690125] |
Chr17:7688702 [GRCh38]
Chr17:7592020 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.531-8G>T |
single nucleotide variant |
not provided [RCV002750556] |
Chr17:7689582 [GRCh38]
Chr17:7592900 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.352G>A (p.Ala118Thr) |
single nucleotide variant |
not provided [RCV003095849] |
Chr17:7689000 [GRCh38]
Chr17:7592318 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.915G>T (p.Thr305=) |
single nucleotide variant |
not provided [RCV003095649] |
Chr17:7701749 [GRCh38]
Chr17:7605067 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1357C>G (p.Pro453Ala) |
single nucleotide variant |
Dyskeratosis congenita [RCV004137642] |
Chr17:7703081 [GRCh38]
Chr17:7606399 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1298C>T (p.Thr433Met) |
single nucleotide variant |
not provided [RCV003095661] |
Chr17:7703022 [GRCh38]
Chr17:7606340 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.923C>G (p.Pro308Arg) |
single nucleotide variant |
not provided [RCV002947384] |
Chr17:7701757 [GRCh38]
Chr17:7605075 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.643-8C>G |
single nucleotide variant |
not provided [RCV002881735] |
Chr17:7700733 [GRCh38]
Chr17:7604051 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.732-16T>C |
single nucleotide variant |
not provided [RCV002880572] |
Chr17:7701443 [GRCh38]
Chr17:7604761 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.361C>T (p.Pro121Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV004073276]|not provided [RCV003080544] |
Chr17:7689009 [GRCh38]
Chr17:7592327 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1509C>G (p.Leu503=) |
single nucleotide variant |
not provided [RCV002619835] |
Chr17:7703348 [GRCh38]
Chr17:7606666 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1165-7T>C |
single nucleotide variant |
not provided [RCV003037510] |
Chr17:7702736 [GRCh38]
Chr17:7606054 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.823-5C>T |
single nucleotide variant |
not provided [RCV002621214] |
Chr17:7701652 [GRCh38]
Chr17:7604970 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.432-16C>G |
single nucleotide variant |
not provided [RCV002706254] |
Chr17:7689208 [GRCh38]
Chr17:7592526 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1626A>G (p.Gly542=) |
single nucleotide variant |
not provided [RCV002592250] |
Chr17:7703465 [GRCh38]
Chr17:7606783 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1600G>A (p.Glu534Lys) |
single nucleotide variant |
not provided [RCV002846561] |
Chr17:7703439 [GRCh38]
Chr17:7606757 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.663G>A (p.Val221=) |
single nucleotide variant |
not provided [RCV003080630] |
Chr17:7700761 [GRCh38]
Chr17:7604079 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.359G>T (p.Gly120Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV004073275]|not provided [RCV003080543] |
Chr17:7689007 [GRCh38]
Chr17:7592325 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.438G>A (p.Trp146Ter) |
single nucleotide variant |
Dyskeratosis congenita, autosomal recessive 3 [RCV003465825]|not provided [RCV002780510] |
Chr17:7689230 [GRCh38]
Chr17:7592548 [GRCh37]
Chr17:17p13.1 |
likely pathogenic|uncertain significance |
| NM_001143992.2(WRAP53):c.955+7A>T |
single nucleotide variant |
not provided [RCV002848464] |
Chr17:7701796 [GRCh38]
Chr17:7605114 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1564_1565delinsAG (p.Ala522Arg) |
indel |
not provided [RCV003080856] |
Chr17:7703403..7703404 [GRCh38]
Chr17:7606721..7606722 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.111C>T (p.Asp37=) |
single nucleotide variant |
not provided [RCV003085252] |
Chr17:7688759 [GRCh38]
Chr17:7592077 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.823-4C>T |
single nucleotide variant |
not provided [RCV002805731] |
Chr17:7701653 [GRCh38]
Chr17:7604971 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1538G>A (p.Arg513Gln) |
single nucleotide variant |
not provided [RCV002596259] |
Chr17:7703377 [GRCh38]
Chr17:7606695 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.822+19A>G |
single nucleotide variant |
not provided [RCV002876181] |
Chr17:7701568 [GRCh38]
Chr17:7604886 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1269-4G>A |
single nucleotide variant |
not provided [RCV003084901] |
Chr17:7702989 [GRCh38]
Chr17:7606307 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.32C>T (p.Pro11Leu) |
single nucleotide variant |
not provided [RCV003083017] |
Chr17:7688680 [GRCh38]
Chr17:7591998 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.764A>G (p.His255Arg) |
single nucleotide variant |
not provided [RCV002574494] |
Chr17:7701491 [GRCh38]
Chr17:7604809 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.530+18G>T |
single nucleotide variant |
not provided [RCV002663669] |
Chr17:7689340 [GRCh38]
Chr17:7592658 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.509del (p.Asn170fs) |
deletion |
not provided [RCV002593488] |
Chr17:7689300 [GRCh38]
Chr17:7592618 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1604A>G (p.Lys535Arg) |
single nucleotide variant |
not provided [RCV002574543] |
Chr17:7703443 [GRCh38]
Chr17:7606761 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.823-3C>T |
single nucleotide variant |
not provided [RCV003082979] |
Chr17:7701654 [GRCh38]
Chr17:7604972 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.373T>C (p.Ser125Pro) |
single nucleotide variant |
not provided [RCV002623939] |
Chr17:7689021 [GRCh38]
Chr17:7592339 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.773A>T (p.Asp258Val) |
single nucleotide variant |
not provided [RCV002766015] |
Chr17:7701500 [GRCh38]
Chr17:7604818 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.822+12C>G |
single nucleotide variant |
not provided [RCV003040896] |
Chr17:7701561 [GRCh38]
Chr17:7604879 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1353G>A (p.Pro451=) |
single nucleotide variant |
not provided [RCV003085237] |
Chr17:7703077 [GRCh38]
Chr17:7606395 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1481A>G (p.Glu494Gly) |
single nucleotide variant |
Dyskeratosis congenita [RCV004154490] |
Chr17:7703320 [GRCh38]
Chr17:7606638 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1170T>G (p.Ala390=) |
single nucleotide variant |
not provided [RCV002828808] |
Chr17:7702748 [GRCh38]
Chr17:7606066 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.749G>A (p.Arg250Gln) |
single nucleotide variant |
not provided [RCV003084970] |
Chr17:7701476 [GRCh38]
Chr17:7604794 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1129C>G (p.Pro377Ala) |
single nucleotide variant |
not provided [RCV002830093] |
Chr17:7702517 [GRCh38]
Chr17:7605835 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.494G>C (p.Ser165Thr) |
single nucleotide variant |
not provided [RCV002765982] |
Chr17:7689286 [GRCh38]
Chr17:7592604 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.221C>A (p.Ser74Tyr) |
single nucleotide variant |
not provided [RCV002602520] |
Chr17:7688869 [GRCh38]
Chr17:7592187 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.738C>T (p.Ala246=) |
single nucleotide variant |
not provided [RCV002676666] |
Chr17:7701465 [GRCh38]
Chr17:7604783 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.955+4_955+20dup |
duplication |
not provided [RCV003045122] |
Chr17:7701791..7701792 [GRCh38]
Chr17:7605109..7605110 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1615G>A (p.Gly539Arg) |
single nucleotide variant |
Dyskeratosis congenita [RCV004178902] |
Chr17:7703454 [GRCh38]
Chr17:7606772 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.892C>T (p.Arg298Trp) |
single nucleotide variant |
not provided [RCV003061625] |
Chr17:7701726 [GRCh38]
Chr17:7605044 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.615G>C (p.Glu205Asp) |
single nucleotide variant |
not provided [RCV002581627] |
Chr17:7689674 [GRCh38]
Chr17:7592992 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1633_1636del (p.Gly545fs) |
deletion |
not provided [RCV002806039] |
Chr17:7703469..7703472 [GRCh38]
Chr17:7606787..7606790 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1257C>T (p.Phe419=) |
single nucleotide variant |
WRAP53-related disorder [RCV003936592]|not provided [RCV002599622] |
Chr17:7702835 [GRCh38]
Chr17:7606153 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1533A>C (p.Glu511Asp) |
single nucleotide variant |
not provided [RCV002746256] |
Chr17:7703372 [GRCh38]
Chr17:7606690 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.54G>A (p.Gln18=) |
single nucleotide variant |
not provided [RCV002770714] |
Chr17:7688702 [GRCh38]
Chr17:7592020 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.823-3del |
deletion |
not provided [RCV002627762] |
Chr17:7701650 [GRCh38]
Chr17:7604968 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.58C>T (p.Pro20Ser) |
single nucleotide variant |
not provided [RCV003086966] |
Chr17:7688706 [GRCh38]
Chr17:7592024 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.154C>T (p.Arg52Trp) |
single nucleotide variant |
Dyskeratosis congenita [RCV003161850]|not provided [RCV002598519] |
Chr17:7688802 [GRCh38]
Chr17:7592120 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.645C>G (p.Val215=) |
single nucleotide variant |
not provided [RCV002716416] |
Chr17:7700743 [GRCh38]
Chr17:7604061 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.359G>A (p.Gly120Glu) |
single nucleotide variant |
not provided [RCV003028922] |
Chr17:7689007 [GRCh38]
Chr17:7592325 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1440C>T (p.Ser480=) |
single nucleotide variant |
not provided [RCV002579146] |
Chr17:7703279 [GRCh38]
Chr17:7606597 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1081G>A (p.Ala361Thr) |
single nucleotide variant |
not provided [RCV003090505] |
Chr17:7702469 [GRCh38]
Chr17:7605787 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1630G>C (p.Val544Leu) |
single nucleotide variant |
not provided [RCV003093241] |
Chr17:7703469 [GRCh38]
Chr17:7606787 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.500A>G (p.Gln167Arg) |
single nucleotide variant |
not provided [RCV002652957] |
Chr17:7689292 [GRCh38]
Chr17:7592610 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.902G>A (p.Arg301His) |
single nucleotide variant |
not provided [RCV002634191] |
Chr17:7701736 [GRCh38]
Chr17:7605054 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.215C>G (p.Pro72Arg) |
single nucleotide variant |
not provided [RCV002605890] |
Chr17:7688863 [GRCh38]
Chr17:7592181 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.861G>A (p.Pro287=) |
single nucleotide variant |
not provided [RCV002584891] |
Chr17:7701695 [GRCh38]
Chr17:7605013 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1620G>T (p.Thr540=) |
single nucleotide variant |
not provided [RCV002588741] |
Chr17:7703459 [GRCh38]
Chr17:7606777 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.791T>G (p.Leu264Arg) |
single nucleotide variant |
not provided [RCV002610301] |
Chr17:7701518 [GRCh38]
Chr17:7604836 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.740G>A (p.Ser247Asn) |
single nucleotide variant |
not provided [RCV002610404] |
Chr17:7701467 [GRCh38]
Chr17:7604785 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.203G>C (p.Arg68Pro) |
single nucleotide variant |
not provided [RCV002606188] |
Chr17:7688851 [GRCh38]
Chr17:7592169 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.352G>T (p.Ala118Ser) |
single nucleotide variant |
not provided [RCV002588493] |
Chr17:7689000 [GRCh38]
Chr17:7592318 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.749G>C (p.Arg250Pro) |
single nucleotide variant |
not provided [RCV002610589] |
Chr17:7701476 [GRCh38]
Chr17:7604794 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| GRCh37/hg19 17p13.1(chr17:7004894-7766789)x1 |
copy number loss |
not provided [RCV003222936] |
Chr17:7004894..7766789 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.7584834_7594887del |
deletion |
Hereditary cancer-predisposing syndrome [RCV003156028] |
Chr17:7584834..7594887 [GRCh37]
Chr17:17p13.1 |
likely pathogenic |
| GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 |
copy number gain |
Chromosome 17p13.3 duplication syndrome [RCV003327726] |
Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12 |
pathogenic |
| NM_001143992.2(WRAP53):c.1565delinsGG (p.Ala522fs) |
indel |
WRAP53-related disorder [RCV003393097] |
Chr17:7703404 [GRCh38]
Chr17:7606722 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.904G>T (p.Val302Phe) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003445471] |
Chr17:7701738 [GRCh38]
Chr17:7605056 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NM_001143992.2(WRAP53):c.1149C>T (p.Phe383=) |
single nucleotide variant |
not provided [RCV003873127] |
Chr17:7702537 [GRCh38]
Chr17:7605855 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1356G>A (p.Glu452=) |
single nucleotide variant |
not provided [RCV003874103] |
Chr17:7703080 [GRCh38]
Chr17:7606398 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1559_1560insA (p.Ala522fs) |
insertion |
not provided [RCV003569842] |
Chr17:7703398..7703399 [GRCh38]
Chr17:7606716..7606717 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.161C>A (p.Ser54Tyr) |
single nucleotide variant |
not provided [RCV003442637] |
Chr17:7688809 [GRCh38]
Chr17:7592127 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1504T>C (p.Leu502=) |
single nucleotide variant |
not provided [RCV003419615] |
Chr17:7703343 [GRCh38]
Chr17:7606661 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.561T>C (p.Asn187=) |
single nucleotide variant |
not provided [RCV003879270] |
Chr17:7689620 [GRCh38]
Chr17:7592938 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1404-7C>T |
single nucleotide variant |
not provided [RCV003881420] |
Chr17:7703236 [GRCh38]
Chr17:7606554 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.895A>T (p.Thr299Ser) |
single nucleotide variant |
not provided [RCV003692804] |
Chr17:7701729 [GRCh38]
Chr17:7605047 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1268+9C>G |
single nucleotide variant |
not provided [RCV003829054] |
Chr17:7702855 [GRCh38]
Chr17:7606173 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.419A>G (p.Asp140Gly) |
single nucleotide variant |
not provided [RCV003687142] |
Chr17:7689067 [GRCh38]
Chr17:7592385 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1309G>C (p.Val437Leu) |
single nucleotide variant |
not provided [RCV003578421] |
Chr17:7703033 [GRCh38]
Chr17:7606351 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1362G>T (p.Val454=) |
single nucleotide variant |
not provided [RCV003739584] |
Chr17:7703086 [GRCh38]
Chr17:7606404 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_000546.6(TP53):c.-29+1G>T |
single nucleotide variant |
Li-Fraumeni syndrome [RCV003510440] |
Chr17:7687376 [GRCh38]
Chr17:7590694 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.731+9T>C |
single nucleotide variant |
not provided [RCV003824529] |
Chr17:7700838 [GRCh38]
Chr17:7604156 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.732-20A>G |
single nucleotide variant |
not provided [RCV003687768] |
Chr17:7701439 [GRCh38]
Chr17:7604757 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.759G>A (p.Pro253=) |
single nucleotide variant |
not provided [RCV003716990] |
Chr17:7701486 [GRCh38]
Chr17:7604804 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1192C>A (p.Arg398=) |
single nucleotide variant |
not provided [RCV003716983] |
Chr17:7702770 [GRCh38]
Chr17:7606088 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1001G>A (p.Ser334Asn) |
single nucleotide variant |
not provided [RCV003850678] |
Chr17:7702389 [GRCh38]
Chr17:7605707 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1035del (p.Ser344_Tyr345insTer) |
deletion |
not provided [RCV003696994] |
Chr17:7702423 [GRCh38]
Chr17:7605741 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1047G>T (p.Leu349=) |
single nucleotide variant |
not provided [RCV003698242] |
Chr17:7702435 [GRCh38]
Chr17:7605753 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.442T>G (p.Tyr148Asp) |
single nucleotide variant |
not provided [RCV003839437] |
Chr17:7689234 [GRCh38]
Chr17:7592552 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.457C>T (p.Leu153=) |
single nucleotide variant |
not provided [RCV003724712] |
Chr17:7689249 [GRCh38]
Chr17:7592567 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.594G>T (p.Leu198=) |
single nucleotide variant |
not provided [RCV003548633] |
Chr17:7689653 [GRCh38]
Chr17:7592971 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.110A>C (p.Asp37Ala) |
single nucleotide variant |
not provided [RCV003666186] |
Chr17:7688758 [GRCh38]
Chr17:7592076 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.723C>T (p.Asp241=) |
single nucleotide variant |
not provided [RCV003672795] |
Chr17:7700821 [GRCh38]
Chr17:7604139 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1179G>A (p.Leu393=) |
single nucleotide variant |
not provided [RCV003717195] |
Chr17:7702757 [GRCh38]
Chr17:7606075 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.246G>A (p.Glu82=) |
single nucleotide variant |
not provided [RCV003724396] |
Chr17:7688894 [GRCh38]
Chr17:7592212 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.942C>T (p.Val314=) |
single nucleotide variant |
not provided [RCV003724274] |
Chr17:7701776 [GRCh38]
Chr17:7605094 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.64C>T (p.Pro22Ser) |
single nucleotide variant |
not provided [RCV003816631] |
Chr17:7688712 [GRCh38]
Chr17:7592030 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1403+12A>G |
single nucleotide variant |
not provided [RCV003670074] |
Chr17:7703139 [GRCh38]
Chr17:7606457 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.516G>A (p.Leu172=) |
single nucleotide variant |
not provided [RCV003725074] |
Chr17:7689308 [GRCh38]
Chr17:7592626 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.297T>C (p.Ser99=) |
single nucleotide variant |
WRAP53-related disorder [RCV003966594]|not provided [RCV003724097] |
Chr17:7688945 [GRCh38]
Chr17:7592263 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.265T>C (p.Leu89=) |
single nucleotide variant |
not provided [RCV003717876] |
Chr17:7688913 [GRCh38]
Chr17:7592231 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.29C>T (p.Ala10Val) |
single nucleotide variant |
not provided [RCV003559794] |
Chr17:7688677 [GRCh38]
Chr17:7591995 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.390del (p.Asp131fs) |
deletion |
not provided [RCV003724155] |
Chr17:7689037 [GRCh38]
Chr17:7592355 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1011G>A (p.Gln337=) |
single nucleotide variant |
not provided [RCV003725151] |
Chr17:7702399 [GRCh38]
Chr17:7605717 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1282C>T (p.Leu428=) |
single nucleotide variant |
not provided [RCV003731105] |
Chr17:7703006 [GRCh38]
Chr17:7606324 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.309C>G (p.Ser103Arg) |
single nucleotide variant |
not provided [RCV003728621] |
Chr17:7688957 [GRCh38]
Chr17:7592275 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1268+14A>T |
single nucleotide variant |
not provided [RCV003733722] |
Chr17:7702860 [GRCh38]
Chr17:7606178 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1522G>C (p.Val508Leu) |
single nucleotide variant |
not provided [RCV003730615] |
Chr17:7703361 [GRCh38]
Chr17:7606679 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.616G>C (p.Gly206Arg) |
single nucleotide variant |
not provided [RCV003732827] |
Chr17:7689675 [GRCh38]
Chr17:7592993 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.198G>A (p.Glu66=) |
single nucleotide variant |
not provided [RCV003720950] |
Chr17:7688846 [GRCh38]
Chr17:7592164 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.292C>T (p.Leu98Phe) |
single nucleotide variant |
not provided [RCV003709721] |
Chr17:7688940 [GRCh38]
Chr17:7592258 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.642+6G>A |
single nucleotide variant |
not provided [RCV003720494] |
Chr17:7689707 [GRCh38]
Chr17:7593025 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1266C>T (p.Asp422=) |
single nucleotide variant |
not provided [RCV003722293] |
Chr17:7702844 [GRCh38]
Chr17:7606162 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.972G>A (p.Gln324=) |
single nucleotide variant |
not provided [RCV003868794] |
Chr17:7702360 [GRCh38]
Chr17:7605678 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.643-6G>C |
single nucleotide variant |
not provided [RCV003720510] |
Chr17:7700735 [GRCh38]
Chr17:7604053 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1404-13A>G |
single nucleotide variant |
not provided [RCV003674809] |
Chr17:7703230 [GRCh38]
Chr17:7606548 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.823-11C>G |
single nucleotide variant |
not provided [RCV003733650] |
Chr17:7701646 [GRCh38]
Chr17:7604964 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.224_227del (p.Leu75fs) |
microsatellite |
not provided [RCV003733699] |
Chr17:7688868..7688871 [GRCh38]
Chr17:7592186..7592189 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.955+15C>T |
single nucleotide variant |
not provided [RCV003733767] |
Chr17:7701804 [GRCh38]
Chr17:7605122 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1164+20A>C |
single nucleotide variant |
not provided [RCV003734001] |
Chr17:7702572 [GRCh38]
Chr17:7605890 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.353C>G (p.Ala118Gly) |
single nucleotide variant |
not provided [RCV003870401] |
Chr17:7689001 [GRCh38]
Chr17:7592319 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.530+12A>C |
single nucleotide variant |
not provided [RCV003685931] |
Chr17:7689334 [GRCh38]
Chr17:7592652 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.827A>T (p.Glu276Val) |
single nucleotide variant |
not provided [RCV003722519] |
Chr17:7701661 [GRCh38]
Chr17:7604979 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.257C>T (p.Pro86Leu) |
single nucleotide variant |
not provided [RCV003734970] |
Chr17:7688905 [GRCh38]
Chr17:7592223 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.672T>C (p.Asp224=) |
single nucleotide variant |
not provided [RCV003720320] |
Chr17:7700770 [GRCh38]
Chr17:7604088 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.531-8del |
deletion |
not provided [RCV003684304] |
Chr17:7689582 [GRCh38]
Chr17:7592900 [GRCh37]
Chr17:17p13.1 |
likely benign |
| GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 |
copy number gain |
not specified [RCV003987215] |
Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2 |
pathogenic |
| NM_001143992.2(WRAP53):c.1065T>A (p.Asp355Glu) |
single nucleotide variant |
not provided [RCV003870836] |
Chr17:7702453 [GRCh38]
Chr17:7605771 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1136G>A (p.Gly379Asp) |
single nucleotide variant |
not provided [RCV003719707] |
Chr17:7702524 [GRCh38]
Chr17:7605842 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.551T>A (p.Ile184Asn) |
single nucleotide variant |
not provided [RCV003719768] |
Chr17:7689610 [GRCh38]
Chr17:7592928 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1269-9C>T |
single nucleotide variant |
not provided [RCV003707209] |
Chr17:7702984 [GRCh38]
Chr17:7606302 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.140G>A (p.Arg47Lys) |
single nucleotide variant |
not provided [RCV003675449] |
Chr17:7688788 [GRCh38]
Chr17:7592106 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.643-13dup |
duplication |
not provided [RCV003733771] |
Chr17:7700723..7700724 [GRCh38]
Chr17:7604041..7604042 [GRCh37]
Chr17:17p13.1 |
benign |
| NM_001143992.2(WRAP53):c.1239C>T (p.Thr413=) |
single nucleotide variant |
not provided [RCV003840643] |
Chr17:7702817 [GRCh38]
Chr17:7606135 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.1165-15G>C |
single nucleotide variant |
not provided [RCV003678536] |
Chr17:7702728 [GRCh38]
Chr17:7606046 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.5dup (p.Thr3fs) |
duplication |
not provided [RCV003704484] |
Chr17:7688651..7688652 [GRCh38]
Chr17:7591969..7591970 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.411T>C (p.Ala137=) |
single nucleotide variant |
WRAP53-related disorder [RCV003951795] |
Chr17:7689059 [GRCh38]
Chr17:7592377 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.828G>A (p.Glu276=) |
single nucleotide variant |
Dyskeratosis congenita [RCV004524246] |
Chr17:7701662 [GRCh38]
Chr17:7604980 [GRCh37]
Chr17:17p13.1 |
likely benign |
| NM_001143992.2(WRAP53):c.854T>C (p.Phe285Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV004524248] |
Chr17:7701688 [GRCh38]
Chr17:7605006 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.829C>G (p.Leu277Val) |
single nucleotide variant |
Dyskeratosis congenita [RCV004524247] |
Chr17:7701663 [GRCh38]
Chr17:7604981 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1036G>A (p.Gly346Ser) |
single nucleotide variant |
Dyskeratosis congenita [RCV004483176] |
Chr17:7702424 [GRCh38]
Chr17:7605742 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.1516C>T (p.Arg506Cys) |
single nucleotide variant |
Dyskeratosis congenita [RCV004685585] |
Chr17:7703355 [GRCh38]
Chr17:7606673 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_7590694)_(7593029_?)del |
deletion |
Li-Fraumeni syndrome [RCV004581163] |
Chr17:7590694..7593029 [GRCh37]
Chr17:17p13.1 |
pathogenic |
| NC_000017.10:g.(?_7589449)_(7593029_?)dup |
duplication |
Li-Fraumeni syndrome [RCV004581164] |
Chr17:7589449..7593029 [GRCh37]
Chr17:17p13.1 |
uncertain significance |
| NC_000017.10:g.(?_422368)_(8285628_?)dup |
duplication |
not provided [RCV004581443] |
Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1 |
uncertain significance |
| NM_001143992.2(WRAP53):c.633T>C (p.Tyr211=) |
single nucleotide variant |
WRAP53-related disorder [RCV004730663] |
Chr17:7689692 [GRCh38]
Chr17:7593010 [GRCh37]
Chr17:17p13.1 |
likely benign |
