8845[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	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +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 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	ALOX12B, ALOX15B +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC129390832, LOC130060171 +141 more	Deletion	Dyskeratosis congenita +2 more	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	ALOX12B, ALOX15B +110 more	Copy number gain	See cases	GUncertain significance
Select item 2237515	NM_002616.3(PER1):c.3839C>T (p.Pro1280Leu)	PER1 (P1280L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557047	NM_002616.3(PER1):c.3823A>G (p.Arg1275Gly)	PER1 (R1275G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 733671	NM_002616.3(PER1):c.3816A>G (p.Glu1272=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2606484	NM_002616.3(PER1):c.3800C>T (p.Ala1267Val)	PER1 (A1267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211427	NM_002616.3(PER1):c.3775A>G (p.Lys1259Glu)	PER1 (K1259E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724175	NM_002616.3(PER1):c.3753C>T (p.Cys1251=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718647	NM_002616.3(PER1):c.3708C>G (p.Gly1236=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2317279	NM_002616.3(PER1):c.3554A>T (p.His1185Leu)	PER1 (H1185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298724	NM_002616.3(PER1):c.3521C>G (p.Ser1174Cys)	PER1 (S1174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741684	NM_002616.3(PER1):c.3430A>G (p.Thr1144Ala)	PER1 (T1144A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2302892	NM_002616.3(PER1):c.3335G>A (p.Arg1112Gln)	PER1 (R1112Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493947	NM_002616.3(PER1):c.3326G>C (p.Gly1109Ala)	PER1 (G1109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771764	NM_002616.3(PER1):c.3259+9C>T	PER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2461165	NM_002616.3(PER1):c.3133C>A (p.Leu1045Ile)	PER1 (L1045I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211425	NM_002616.3(PER1):c.3095A>G (p.Asn1032Ser)	PER1 (N1032S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248321	NM_002616.3(PER1):c.3080T>A (p.Val1027Asp)	PER1 (V1027D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718368	NM_002616.3(PER1):c.3079G>A (p.Val1027Ile)	PER1 (V1027I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 784353	NM_002616.3(PER1):c.3024C>T (p.Ala1008=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734941	NM_002616.3(PER1):c.2981G>A (p.Arg994His)	PER1 (R994H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2537149	NM_002616.3(PER1):c.2930G>T (p.Arg977Ile)	PER1 (R977I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388854	NM_002616.3(PER1):c.2902C>T (p.Arg968Cys)	PER1 (R968C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211424	NM_002616.3(PER1):c.2878G>C (p.Ala960Pro)	PER1 (A960P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477943	NM_002616.3(PER1):c.2822C>T (p.Thr941Ile)	PER1 (T941I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361800	NM_002616.3(PER1):c.2752A>G (p.Met918Val)	PER1 (M918V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404685	NM_002616.3(PER1):c.2734G>A (p.Ala912Thr)	PER1 (A912T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524436	NM_002616.3(PER1):c.2688G>C (p.Gln896His)	PER1 (Q896H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357587	NM_002616.3(PER1):c.2617G>C (p.Ala873Pro)	PER1 (A873P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212932	NM_002616.3(PER1):c.2591C>A (p.Pro864His)	PER1 (P864H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594448	NM_002616.3(PER1):c.2498A>G (p.His833Arg)	PER1 (H833R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615807	NM_002616.3(PER1):c.2490C>A (p.Ser830Arg)	PER1 (S830R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647446	NM_002616.3(PER1):c.2478C>T (p.Pro826=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335873	NM_002616.3(PER1):c.2473G>A (p.Gly825Ser)	PER1 (G825S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025437	NM_002616.3(PER1):c.2472C>T (p.His824=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3211423	NM_002616.3(PER1):c.2455G>A (p.Glu819Lys)	PER1 (E819K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310139	NM_002616.3(PER1):c.2422G>T (p.Asp808Tyr)	PER1 (D808Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621309	NM_002616.3(PER1):c.2294C>T (p.Ala765Val)	PER1 (A765V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371421	NM_002616.3(PER1):c.2251G>C (p.Ala751Pro)	PER1 (A751P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710104	NM_002616.3(PER1):c.2219-7T>C	MIR6883, PER1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3211422	NM_002616.3(PER1):c.2210C>T (p.Pro737Leu)	PER1 (P737L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245347	NM_002616.3(PER1):c.2152G>A (p.Val718Ile)	PER1 (V718I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620473	NM_002616.3(PER1):c.2123T>C (p.Leu708Pro)	PER1 (L708P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349063	NM_002616.3(PER1):c.2080C>T (p.Arg694Trp)	PER1 (R694W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310699	NM_002616.3(PER1):c.2032A>G (p.Lys678Glu)	PER1 (K678E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598442	NM_002616.3(PER1):c.1898G>A (p.Ser633Asn)	PER1 (S633N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211420	NM_002616.3(PER1):c.1891C>G (p.Leu631Val)	PER1 (L631V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784354	NM_002616.3(PER1):c.1878G>A (p.Gln626=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2244246	NM_002616.3(PER1):c.1846G>A (p.Glu616Lys)	PER1 (E616K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379348	NM_002616.3(PER1):c.1763T>C (p.Leu588Pro)	PER1 (L588P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478139	NM_002616.3(PER1):c.1741G>A (p.Gly581Ser)	PER1 (G581S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736333	NM_002616.3(PER1):c.1721G>A (p.Arg574Gln)	PER1 (R574Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2482767	NM_002616.3(PER1):c.1690T>G (p.Phe564Val)	PER1 (F564V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747716	NM_002616.3(PER1):c.1626G>A (p.Ala542=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647447	NM_002616.3(PER1):c.1605A>G (p.Ala535=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742954	NM_002616.3(PER1):c.1584T>C (p.Ser528=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 789339	NM_002616.3(PER1):c.1566C>T (p.His522=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3211419	NM_002616.3(PER1):c.1558C>T (p.Pro520Ser)	PER1 (P520S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211418	NM_002616.3(PER1):c.1553C>G (p.Pro518Arg)	PER1 (P518R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710455	NM_002616.3(PER1):c.1521G>A (p.Thr507=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3211416	NM_002616.3(PER1):c.1520C>T (p.Thr507Met)	PER1 (T507M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757417	NM_002616.3(PER1):c.1498-9C>T	PER1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3211415	NM_002616.3(PER1):c.1460A>G (p.Gln487Arg)	PER1 (Q487R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689675	NM_002616.3(PER1):c.1450A>T (p.Thr484Ser)	PER1 (T484S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2486814	NM_002616.3(PER1):c.1415C>T (p.Thr472Ile)	PER1 (T472I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319359	NM_002616.3(PER1):c.1414A>G (p.Thr472Ala)	PER1 (T472A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211414	NM_002616.3(PER1):c.1352A>C (p.Lys451Thr)	PER1 (K451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544089	NM_002616.3(PER1):c.1300T>C (p.Tyr434His)	PER1 (Y434H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211413	NM_002616.3(PER1):c.1138C>G (p.Leu380Val)	PER1 (L380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380960	NM_002616.3(PER1):c.1045G>A (p.Glu349Lys)	PER1 (E349K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382857	NM_002616.3(PER1):c.1003C>T (p.Pro335Ser)	PER1 (P335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211429	NM_002616.3(PER1):c.992C>T (p.Ala331Val)	PER1 (A331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211428	NM_002616.3(PER1):c.934C>T (p.Arg312Trp)	PER1 (R312W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777700	NM_002616.3(PER1):c.906-10C>T	PER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2536168	NM_002616.3(PER1):c.899G>A (p.Arg300His)	PER1 (R300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541739	NM_002616.3(PER1):c.898C>T (p.Arg300Cys)	PER1 (R300C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612906	NM_002616.3(PER1):c.844G>A (p.Ala282Thr)	PER1 (A282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319619	NM_002616.3(PER1):c.766G>C (p.Glu256Gln)	PER1 (E256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266750	NM_002616.3(PER1):c.748C>T (p.Arg250Trp)	PER1 (R250W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713610	NM_002616.3(PER1):c.718G>A (p.Val240Ile)	PER1 (V240I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2647448	NM_002616.3(PER1):c.717C>T (p.Ala239=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740879	NM_002616.3(PER1):c.711G>A (p.Gln237=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 760319	NM_002616.3(PER1):c.684G>C (p.Thr228=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2544677	NM_002616.3(PER1):c.648C>A (p.Asn216Lys)	PER1 (N216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316820	NM_002616.3(PER1):c.626C>T (p.Thr209Met)	PER1 (T209M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345097	NM_002616.3(PER1):c.571G>A (p.Glu191Lys)	PER1 (E191K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369569	NM_002616.3(PER1):c.542A>C (p.Tyr181Ser)	PER1 (Y181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647449	NM_002616.3(PER1):c.528G>A (p.Gln176=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2262639	NM_002616.3(PER1):c.424C>G (p.Leu142Val)	PER1 (L142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250412	NM_002616.3(PER1):c.356C>T (p.Pro119Leu)	PER1 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748779	NM_002616.3(PER1):c.327C>T (p.Leu109=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737079	NM_002616.3(PER1):c.297C>G (p.Ser99=)	PER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2326217	NM_002616.3(PER1):c.272A>G (p.Lys91Arg)	PER1 (K91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570084	NM_002616.3(PER1):c.202C>T (p.Arg68Trp)	PER1 (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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