25522[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 523161	GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1	ATP1B2, DNAH2 +17 more	Copy number loss	Vascular endothelial growth factor (VEGF) inhibitor response	Gdrug response
Select item 237937	NM_000546.5(TP53):c.-202_*1207del	LOC130060172, LOC126862483 +3 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 659585	NC_000017.11:g.(?_7669599)_(7688293_?)del	LOC126862483, LOC130060171 +3 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC130060207, LOC130060208 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC130060232, LOC130060233 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 665658	NC_000017.10:g.(?_7576843)_(7591611_?)dup	LOC126862483, LOC130060171 +3 more	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 528288	NC_000017.10:g.(?_7576847)_(7591611_?)dup	LOC126862483, LOC130060171 +3 more	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 646408	NC_000017.10:g.(?_7589449)_(7590046_?)dup	LOC126862483, LOC130060172 +2 more	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 224043	NM_000546.6(TP53):c.-29+269G>A	LOC126862483, TP53 +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 516754	NM_000546.6(TP53):c.-29+9C>T	LOC126862483, TP53 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 803311	NM_000546.6(TP53):c.-29+5G>T	LOC126862483, TP53 +1 more	Single nucleotide variant (intron variant)	Squamous cell carcinoma of the head and neck	GUncertain significance
Select item 127803	NM_000546.6(TP53):c.-29+4A>C	LOC126862483, TP53 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2697350	NM_000546.6(TP53):c.-29+1G>T	LOC126862483, TP53 +1 more	Single nucleotide variant (splice donor variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 1692472	NM_000546.6(TP53):c.-29+1del	LOC126862483, TP53 +1 more	Deletion (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1524222	NM_000546.6(TP53):c.-29+1G>C	WRAP53, LOC126862483 +1 more	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1415968	NM_000546.6(TP53):c.-29+1G>A	LOC126862483, TP53 +1 more	Single nucleotide variant (splice donor variant +1 more)	Li-Fraumeni syndrome	GUncertain significance
Select item 254053	NM_000546.5(TP53):c.-202_-29+?dup174	LOC126862483, TP53 +1 more	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 254052	NM_000546.5(TP53):c.-202_-29+?del	LOC126862483, TP53 +1 more	Deletion	Li-Fraumeni syndrome	GLikely pathogenic
Select item 246194	NM_000546.6(TP53):c.-42C>T	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 803312	NM_000546.6(TP53):c.-43G>T	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Squamous cell carcinoma of the head and neck	GLikely benign
Select item 265275	NM_000546.6(TP53):c.-48G>A	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +1 more	GUncertain significance
Select item 325644	NM_000546.6(TP53):c.-73C>A	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Li-Fraumeni syndrome +1 more	GUncertain significance
Select item 325645	NM_000546.6(TP53):c.-94C>T	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Li-Fraumeni syndrome 1 +1 more	GUncertain significance
Select item 325646	NM_000546.6(TP53):c.-102C>G	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Li-Fraumeni syndrome 1 +1 more	GUncertain significance
Select item 437015	NM_000546.6(TP53):c.-111A>G	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 891589	NM_000546.6(TP53):c.-123C>T	LOC126862483, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	Li-Fraumeni syndrome 1	GUncertain significance
Select item 652964	NC_000017.11:g.(?_7687606)_(7688293_?)del	TP53, WRAP53	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 1182360	NM_001143990.2(WRAP53):c.-1-448dup	WRAP53	Duplication (intron variant)	not provided	GBenign
Select item 1193678	NM_001143990.2(WRAP53):c.-1-426T>C	WRAP53	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274330	NM_001143990.2(WRAP53):c.-1-412G>A	WRAP53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271401	NM_001143990.2(WRAP53):c.-1-411T>A	WRAP53	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 369234	NM_001143990.2(WRAP53):c.-1-313T>G	WRAP53	Single nucleotide variant (intron variant)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 325647	NM_018081.2(WRAP53):c.-255G>A	LOC130060173, WRAP53	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 369235	NM_018081.2(WRAP53):c.-245G>C	LOC130060173, TP53 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 3 +2 more	GBenign/Likely benign
Select item 369236	NM_018081.2(WRAP53):c.-206G>A	TP53, WRAP53	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GBenign/Likely benign
Select item 891590	NM_001143992.2(WRAP53):c.-62C>T	WRAP53	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 325648	NM_001143992.2(WRAP53):c.-52C>T	WRAP53	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 891591	NM_001143992.2(WRAP53):c.-23C>G	WRAP53	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 325649	NM_001143992.2(WRAP53):c.-2+2T>C	WRAP53	Single nucleotide variant (5 prime UTR variant +2 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 891846	NM_001143992.2(WRAP53):c.-1-5T>G	WRAP53	Single nucleotide variant (intron variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 891845	NM_001143992.2(WRAP53):c.-1-5T>C	WRAP53	Single nucleotide variant (intron variant +1 more)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 1336926	NM_001143992.2(WRAP53):c.1A>G (p.Met1Val)	TP53, WRAP53 (M1V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2861726	NM_001143992.2(WRAP53):c.5dup (p.Thr3fs)	WRAP53 (T3fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1446792	NM_001143992.2(WRAP53):c.14A>C (p.Glu5Ala)	WRAP53 (E5A)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1566881	NM_001143992.2(WRAP53):c.15G>A (p.Glu5=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 631791	NM_001143992.2(WRAP53):c.18_19del (p.Gln7fs)	WRAP53 (Q7fs)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal recessive 3 +1 more	GUncertain significance
Select item 723264	NM_001143992.2(WRAP53):c.18T>A (p.Thr6=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1388150	NM_001143992.2(WRAP53):c.20A>G (p.Gln7Arg)	WRAP53 (Q7R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590974	NM_001143992.2(WRAP53):c.24G>A (p.Pro8=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729386	NM_001143992.2(WRAP53):c.29C>T (p.Ala10Val)	WRAP53 (A10V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 325650	NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser)	TP53, WRAP53 (P11S)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 2172399	NM_001143992.2(WRAP53):c.32C>T (p.Pro11Leu)	WRAP53 (P11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1556688	NM_001143992.2(WRAP53):c.33G>C (p.Pro11=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499793	NM_001143992.2(WRAP53):c.46T>G (p.Ser16Ala)	WRAP53 (S16A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986708	NM_001143992.2(WRAP53):c.54G>A (p.Gln18=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954684	NM_001143992.2(WRAP53):c.54G>C (p.Gln18His)	WRAP53 (Q18H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171536	NM_001143992.2(WRAP53):c.58C>T (p.Pro20Ser)	WRAP53 (P20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956920	NM_001143992.2(WRAP53):c.64C>T (p.Pro22Ser)	WRAP53 (P22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399987	NM_001143992.2(WRAP53):c.77C>T (p.Ser26Phe)	WRAP53 (S26F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549901	NM_001143992.2(WRAP53):c.81C>T (p.Pro27=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 891847	NM_001143992.2(WRAP53):c.106G>A (p.Ala36Thr)	WRAP53 (A36T)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3	GUncertain significance
Select item 2783651	NM_001143992.2(WRAP53):c.110A>C (p.Asp37Ala)	WRAP53 (D37A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170268	NM_001143992.2(WRAP53):c.111C>T (p.Asp37=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1021568	NM_001143992.2(WRAP53):c.122T>C (p.Met41Thr)	WRAP53 (M41T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747933	NM_001143992.2(WRAP53):c.129G>A (p.Pro43=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640312	NM_001143992.2(WRAP53):c.138A>G (p.Glu46=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795457	NM_001143992.2(WRAP53):c.140G>A (p.Arg47Lys)	WRAP53 (R47K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373987	NM_001143992.2(WRAP53):c.142G>C (p.Gly48Arg)	WRAP53 (G48R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797133	NM_001143992.2(WRAP53):c.144G>A (p.Gly48=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172965	NM_001143992.2(WRAP53):c.154C>T (p.Arg52Trp)	WRAP53 (R52W)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1312936	NM_001143992.2(WRAP53):c.159G>T (p.Leu53Phe)	WRAP53 (L53F)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 2663449	NM_001143992.2(WRAP53):c.161C>A (p.Ser54Tyr)	WRAP53 (S54Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 325651	NM_001143992.2(WRAP53):c.187G>A (p.Val63Met)	TP53, WRAP53 (V63M)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 3 +2 more	GUncertain significance
Select item 2816665	NM_001143992.2(WRAP53):c.198G>A (p.Glu66=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 261001	NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly)	TP53, WRAP53 (R68G)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 2181514	NM_001143992.2(WRAP53):c.203G>C (p.Arg68Pro)	WRAP53 (R68P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423269	NM_001143992.2(WRAP53):c.208G>T (p.Gly70Trp)	WRAP53 (G70W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1567790	NM_001143992.2(WRAP53):c.213C>T (p.Asp71=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176025	NM_001143992.2(WRAP53):c.215C>G (p.Pro72Arg)	WRAP53 (P72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433040	NM_001143992.2(WRAP53):c.217G>A (p.Val73Ile)	WRAP53 (V73I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902348	NM_001143992.2(WRAP53):c.224_227del (p.Leu75fs)	WRAP53 (L75fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2176067	NM_001143992.2(WRAP53):c.221C>A (p.Ser74Tyr)	WRAP53 (S74Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1789692	NM_001143992.2(WRAP53):c.232C>A (p.Pro78Thr)	WRAP53 (P78T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1420426	NM_001143992.2(WRAP53):c.235C>A (p.Leu79Met)	WRAP53 (L79M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884450	NM_001143992.2(WRAP53):c.246G>A (p.Glu82=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1720966	NM_001143992.2(WRAP53):c.248T>C (p.Phe83Ser)	WRAP53 (F83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434036	NM_001143992.2(WRAP53):c.256C>T (p.Pro86Ser)	WRAP53 (P86S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912524	NM_001143992.2(WRAP53):c.257C>T (p.Pro86Leu)	WRAP53 (P86L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889523	NM_001143992.2(WRAP53):c.265T>C (p.Leu89=)	WRAP53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421723	NM_001143992.2(WRAP53):c.265T>A (p.Leu89Met)	WRAP53 (L89M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377955	NM_001143992.2(WRAP53):c.274C>G (p.Arg92Gly)	WRAP53 (R92G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418774	NM_001143992.2(WRAP53):c.280G>A (p.Glu94Lys)	WRAP53 (E94K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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