Advanced Search (OLGA)

Gene: MIR4719 (microRNA 4719) Homo sapiens

Subscribe to Updates

Analyze

Symbol:

MIR4719

Name:

microRNA 4719

RGD ID:

5134175

HGNC Page

HGNC:41807

Description:

microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

Type:

ncrna (Ensembl: miRNA)

RefSeq Status:

PROVISIONAL

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	76,868,936 - 76,869,019 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	76,868,936 - 76,869,019 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	76,902,833 - 76,902,916 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Cytogenetic Map	16	q23.1	NCBI
HuRef	16	62,659,347 - 62,659,430 (+)	NCBI		HuRef
CHM1_1	16	78,314,244 - 78,314,327 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	16	82,925,104 - 82,925,187 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

PMID:16381832	PMID:21199797

Name	Type	Condition(s)	Position(s)	Clinical significance
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 [RCV004822034]\|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
NC_000017.11:g.(?_7668402)_(7687550_?)del	deletion	Li-Fraumeni syndrome [RCV000231533]	Chr17:7668402..7687550 [GRCh38] Chr17:7571720..7590868 [GRCh37] Chr17:17p13.1	pathogenic
NC_000017.11:g.(?_7687377)_(7687550_?)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	Dyskeratosis congenita [RCV004822332]\|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	conflicting interpretations of pathogenicity\|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	Dyskeratosis congenita, autosomal recessive 3 [RCV005014369]\|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	Dyskeratosis congenita, autosomal recessive 3 [RCV005023180]\|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 provided [RCV005095270]\|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]\|Dyskeratosis congenita, autosomal recessive 3 [RCV005055182]\|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]\|Dyskeratosis congenita, autosomal recessive 3 [RCV005016903]\|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	Dyskeratosis congenita [RCV004822973]\|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	Dyskeratosis congenita, autosomal recessive 3 [RCV005017052]\|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	Dyskeratosis congenita [RCV004822971]\|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	Dyskeratosis congenita [RCV004822972]\|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	Dyskeratosis congenita, autosomal recessive 3 [RCV005014712]\|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]\|Dyskeratosis congenita, autosomal recessive 3 [RCV005016845]\|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	Dyskeratosis congenita [RCV004822945]\|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	Dyskeratosis congenita [RCV004823106]\|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	Dyskeratosis congenita [RCV004823108]\|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	likely benign\|uncertain significance
NM_001143992.2(WRAP53):c.509del (p.Asn170fs)	deletion	Dyskeratosis congenita, autosomal recessive 3 [RCV005019259]\|not provided [RCV002593488]	Chr17:7689300 [GRCh38] Chr17:7592618 [GRCh37] Chr17:17p13.1	likely pathogenic\|uncertain significance
NM_001143992.2(WRAP53):c.1604A>G (p.Lys535Arg)	single nucleotide variant	Dyskeratosis congenita, autosomal recessive 3 [RCV005021578]\|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]\|Dyskeratosis congenita, autosomal recessive 3 [RCV005021577]\|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	Dyskeratosis congenita, autosomal recessive 3 [RCV005030237]\|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	Dyskeratosis congenita, autosomal recessive 3 [RCV005014902]\|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	Dyskeratosis congenita, autosomal recessive 3 [RCV005014922]\|not provided [RCV003733650]	Chr17:7701646 [GRCh38] Chr17:7604964 [GRCh37] Chr17:17p13.1	likely benign\|uncertain significance
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]\|not provided [RCV004780715]	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]\|Dyskeratosis congenita, autosomal recessive 3 [RCV005023629]	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
NM_001143992.2(WRAP53):c.1028G>A (p.Gly343Asp)	single nucleotide variant	Dyskeratosis congenita, autosomal recessive 3 [RCV005022776]	Chr17:7702416 [GRCh38] Chr17:7605734 [GRCh37] Chr17:17p13.1	uncertain significance
GRCh37/hg19 17p13.2-12(chr17:4678235-14745263)x3	copy number gain	not provided [RCV004819316]	Chr17:4678235..14745263 [GRCh37] Chr17:17p13.2-12	pathogenic
NM_001143992.2(WRAP53):c.574A>G (p.Ile192Val)	single nucleotide variant	Dyskeratosis congenita, autosomal recessive 3 [RCV005026135]	Chr17:7689633 [GRCh38] Chr17:7592951 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.1257del (p.Phe419fs)	deletion	Dyskeratosis congenita, autosomal recessive 3 [RCV005022777]\|not provided [RCV005112694]	Chr17:7702835 [GRCh38] Chr17:7606153 [GRCh37] Chr17:17p13.1	likely pathogenic\|uncertain significance
NM_001143992.2(WRAP53):c.560A>G (p.Asn187Ser)	single nucleotide variant	Dyskeratosis congenita, autosomal recessive 3 [RCV005022775]	Chr17:7689619 [GRCh38] Chr17:7592937 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.1369T>C (p.Phe457Leu)	single nucleotide variant	Dyskeratosis congenita, autosomal recessive 3 [RCV005022778]	Chr17:7703093 [GRCh38] Chr17:7606411 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.1225C>G (p.Arg409Gly)	single nucleotide variant	Dyskeratosis congenita [RCV004821927]	Chr17:7702803 [GRCh38] Chr17:7606121 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.609C>T (p.Tyr203=)	single nucleotide variant	not provided [RCV005147099]	Chr17:7689668 [GRCh38] Chr17:7592986 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.136G>C (p.Glu46Gln)	single nucleotide variant	not provided [RCV005087493]	Chr17:7688784 [GRCh38] Chr17:7592102 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.1476G>A (p.Gly492=)	single nucleotide variant	not provided [RCV005064135]	Chr17:7703315 [GRCh38] Chr17:7606633 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.809C>A (p.Ala270Asp)	single nucleotide variant	not provided [RCV005174485]	Chr17:7701536 [GRCh38] Chr17:7604854 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.643-7T>C	single nucleotide variant	not provided [RCV005088820]	Chr17:7700734 [GRCh38] Chr17:7604052 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.731+7A>C	single nucleotide variant	not provided [RCV005085774]	Chr17:7700836 [GRCh38] Chr17:7604154 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.659T>C (p.Met220Thr)	single nucleotide variant	not provided [RCV005191306]	Chr17:7700757 [GRCh38] Chr17:7604075 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.1599C>T (p.Gly533=)	single nucleotide variant	not provided [RCV005130442]	Chr17:7703438 [GRCh38] Chr17:7606756 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.948C>A (p.Ala316=)	single nucleotide variant	not provided [RCV005078137]	Chr17:7701782 [GRCh38] Chr17:7605100 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1165G>A (p.Asp389Asn)	single nucleotide variant	not provided [RCV005186421]	Chr17:7702743 [GRCh38] Chr17:7606061 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.531-10_531-9del	deletion	not provided [RCV005190695]	Chr17:7689580..7689581 [GRCh38] Chr17:7592898..7592899 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1533A>G (p.Glu511=)	single nucleotide variant	not provided [RCV005192266]	Chr17:7703372 [GRCh38] Chr17:7606690 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1403+17_1403+18del	deletion	not provided [RCV005156539]	Chr17:7703144..7703145 [GRCh38] Chr17:7606462..7606463 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.155G>A (p.Arg52Gln)	single nucleotide variant	not provided [RCV005079921]	Chr17:7688803 [GRCh38] Chr17:7592121 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.550A>G (p.Ile184Val)	single nucleotide variant	not provided [RCV005190865]	Chr17:7689609 [GRCh38] Chr17:7592927 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.1479C>T (p.Asp493=)	single nucleotide variant	not provided [RCV005185337]	Chr17:7703318 [GRCh38] Chr17:7606636 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.955+19A>G	single nucleotide variant	not provided [RCV005189722]	Chr17:7701808 [GRCh38] Chr17:7605126 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.642+13G>A	single nucleotide variant	not provided [RCV005127345]	Chr17:7689714 [GRCh38] Chr17:7593032 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1134T>C (p.Asp378=)	single nucleotide variant	not provided [RCV005187905]	Chr17:7702522 [GRCh38] Chr17:7605840 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1493T>C (p.Leu498Pro)	single nucleotide variant	not provided [RCV005184976]	Chr17:7703332 [GRCh38] Chr17:7606650 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.857C>T (p.Ser286Phe)	single nucleotide variant	not provided [RCV005068440]	Chr17:7701691 [GRCh38] Chr17:7605009 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.927C>T (p.Gly309=)	single nucleotide variant	not provided [RCV005157939]	Chr17:7701761 [GRCh38] Chr17:7605079 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1572C>T (p.Asp524=)	single nucleotide variant	not provided [RCV005191875]	Chr17:7703411 [GRCh38] Chr17:7606729 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.202C>A (p.Arg68=)	single nucleotide variant	not provided [RCV005191936]	Chr17:7688850 [GRCh38] Chr17:7592168 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1578C>T (p.Ser526=)	single nucleotide variant	not provided [RCV005194878]	Chr17:7703417 [GRCh38] Chr17:7606735 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.372G>A (p.Gly124=)	single nucleotide variant	not provided [RCV005192776]	Chr17:7689020 [GRCh38] Chr17:7592338 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.580C>A (p.Arg194=)	single nucleotide variant	not provided [RCV005188623]	Chr17:7689639 [GRCh38] Chr17:7592957 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.642+15T>C	single nucleotide variant	not provided [RCV005131793]	Chr17:7689716 [GRCh38] Chr17:7593034 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1449T>C (p.Arg483=)	single nucleotide variant	not provided [RCV005068886]	Chr17:7703288 [GRCh38] Chr17:7606606 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.224T>G (p.Leu75Arg)	single nucleotide variant	not provided [RCV005191110]	Chr17:7688872 [GRCh38] Chr17:7592190 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.1116C>T (p.His372=)	single nucleotide variant	not provided [RCV005163781]	Chr17:7702504 [GRCh38] Chr17:7605822 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1050T>G (p.Gly350=)	single nucleotide variant	not provided [RCV005193052]	Chr17:7702438 [GRCh38] Chr17:7605756 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1558G>A (p.Gly520Arg)	single nucleotide variant	not provided [RCV005187324]	Chr17:7703397 [GRCh38] Chr17:7606715 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.979A>T (p.Ile327Phe)	single nucleotide variant	not provided [RCV005083679]	Chr17:7702367 [GRCh38] Chr17:7605685 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.543T>A (p.Gly181=)	single nucleotide variant	not provided [RCV005188142]	Chr17:7689602 [GRCh38] Chr17:7592920 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1377C>T (p.Pro459=)	single nucleotide variant	not provided [RCV005188096]	Chr17:7703101 [GRCh38] Chr17:7606419 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.261T>G (p.Ser87Arg)	single nucleotide variant	not provided [RCV005189486]	Chr17:7688909 [GRCh38] Chr17:7592227 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.760A>G (p.Ile254Val)	single nucleotide variant	not provided [RCV005148486]	Chr17:7701487 [GRCh38] Chr17:7604805 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.952T>G (p.Phe318Val)	single nucleotide variant	not provided [RCV005151585]	Chr17:7701786 [GRCh38] Chr17:7605104 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.1264G>A (p.Asp422Asn)	single nucleotide variant	not provided [RCV005185322]	Chr17:7702842 [GRCh38] Chr17:7606160 [GRCh37] Chr17:17p13.1	uncertain significance
NM_001143992.2(WRAP53):c.1560G>A (p.Gly520=)	single nucleotide variant	not provided [RCV005185217]	Chr17:7703399 [GRCh38] Chr17:7606717 [GRCh37] Chr17:17p13.1	likely benign
NM_001143992.2(WRAP53):c.1554G>T (p.Trp518Cys)	single nucleotide variant	not provided [RCV005153405]	Chr17:7703393 [GRCh38] Chr17:7606711 [GRCh37] Chr17:17p13.1	uncertain significance

Predicted Targets

	Summary Value
Count of predictions:	19013
Count of gene targets:	7460
Count of transcripts:	14448
Interacting mature miRNAs:	hsa-miR-4719
Prediction methods:	Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597454946	GWAS1551020_H	seropositivity measurement QTL GWAS1551020 (human)		9e-18	seropositivity measurement		16	76868950	76868951	Human

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system
1	1	18	12	20	10	17	11	5	29	19	1	14	1	5	8


RefSeq Transcripts	NR_039870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC106734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000585233

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	76,868,936 - 76,869,019 (+)	Ensembl

RefSeq Acc Id:

NR_039870

RefSeq Status:

PROVISIONAL

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	76,868,936 - 76,869,019 (+)	NCBI
GRCh37	16	76,902,833 - 76,902,916 (+)	ENTREZGENE
HuRef	16	62,659,347 - 62,659,430 (+)	ENTREZGENE
CHM1_1	16	78,314,244 - 78,314,327 (+)	NCBI
T2T-CHM13v2.0	16	82,925,104 - 82,925,187 (+)	NCBI

Sequence:

show sequence

ACAATGATGACTTGTATGTTATAGATTTGTGATTACATTAAAACTTAAAATTTCACAAATCTATAATATGCAGGTCATCACTGT

hide sequence

Database	Acc Id	Source(s)
COSMIC	MIR4719	COSMIC
Ensembl Genes	ENSG00000266426	Ensembl, ENTREZGENE
Ensembl Transcript	ENST00000585233	ENTREZGENE
GTEx	ENSG00000266426	GTEx
HGNC ID	HGNC:41807	ENTREZGENE
Human Proteome Map	MIR4719	Human Proteome Map
miRBase	MI0017354	ENTREZGENE
NCBI Gene	100616172	ENTREZGENE
RNAcentral	URS0000088093	RNACentral
	URS000075E2D2	RNACentral

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
		Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Send us a Message