Related gene-specific medical variations for Gene (Select 65018) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379470	NM_032409.3(PINK1):c.839C>A (p.Ala280Asp)	PINK1, PINK1-AS (A280D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368942	NM_032409.3(PINK1):c.1252G>C (p.Val418Leu)	PINK1, PINK1-AS (V418L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3367258	NM_032409.3(PINK1):c.977G>A (p.Arg326His)	PINK1, PINK1-AS (R326H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342457	NM_032409.3(PINK1):c.904C>T (p.Arg302Cys)	PINK1, PINK1-AS (R302C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247755	NC_000001.10:g.(?_20960807)_(20964608_?)del	PINK1	Deletion	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 3213107	NM_032409.3(PINK1):c.806C>T (p.Ala269Val)	PINK1, PINK1-AS (A269V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3213104	NM_032409.3(PINK1):c.1576A>G (p.Lys526Glu)	PINK1, PINK1-AS (K526E)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213103	NM_032409.3(PINK1):c.1472A>C (p.Gln491Pro)	PINK1, PINK1-AS (Q491P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213102	NM_032409.3(PINK1):c.1187T>G (p.Leu396Arg)	PINK1, PINK1-AS (L396R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213101	NM_032409.3(PINK1):c.1177A>C (p.Ser393Arg)	PINK1, PINK1-AS (S393R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3213100	NM_032409.3(PINK1):c.1006C>G (p.Pro336Ala)	PINK1, PINK1-AS (P336A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067874	NM_032409.3(PINK1):c.1288G>C (p.Asp430His)	PINK1, PINK1-AS (D430H)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 3031386	NM_032409.3(PINK1):c.1131C>T (p.Cys377=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	PINK1-related disorder	GLikely benign
Select item 2984111	NM_032409.3(PINK1):c.788G>A (p.Arg263Lys)	PINK1, PINK1-AS (R263K)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2854318	NM_032409.3(PINK1):c.1155_1156insTGCCCGCGTCCCTTTCTCCATAAAATTCTTCTTAGTAGCTA (p.Gly386delinsCysProArgProPheLeuHisLysIleLeuLeuSerSerTer)	PINK1, PINK1-AS	Insertion (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 2767625	NM_032409.3(PINK1):c.1488+14del	PINK1, PINK1-AS	Deletion (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GBenign
Select item 2742308	NM_032409.3(PINK1):c.1252-2_1272del	PINK1, PINK1-AS	Deletion (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely pathogenic
Select item 2720339	NM_032409.3(PINK1):c.960-4C>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2713011	NM_032409.3(PINK1):c.966C>G (p.Pro322=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2663836	NM_032409.3(PINK1):c.943T>C (p.Phe315Leu)	PINK1, PINK1-AS (F315L)	Single nucleotide variant (missense variant)	Neuroblastoma	GUncertain significance
Select item 2628394	NM_032409.3(PINK1):c.960-2A>G	PINK1, PINK1-AS	Single nucleotide variant (splice acceptor variant)	PINK1-related disorder	GLikely pathogenic
Select item 2627455	NM_032409.3(PINK1):c.1099A>G (p.Asn367Asp)	PINK1, PINK1-AS (N367D)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2570716	NM_032409.3(PINK1):c.1220G>T (p.Arg407Leu)	PINK1, PINK1-AS (R407L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2502602	NM_032409.3(PINK1):c.823A>G (p.Ile275Val)	PINK1, PINK1-AS (I275V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434866	NM_032409.3(PINK1):c.776+2110G>A	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2434865	NM_032409.3(PINK1):c.776+2032G>A	PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2385354	NM_032409.3(PINK1):c.223G>T (p.Ala75Ser)	MIR6084, PINK1 (A75S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372094	NM_032409.3(PINK1):c.196C>T (p.Arg66Cys)	MIR6084, PINK1 (R66C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332811	NM_032409.3(PINK1):c.786G>C (p.Lys262Asn)	PINK1, PINK1-AS (K262N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283782	NM_032409.3(PINK1):c.998C>T (p.Thr333Ile)	PINK1, PINK1-AS (T333I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241088	NM_032409.3(PINK1):c.1099A>T (p.Asn367Tyr)	PINK1, PINK1-AS (N367Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202710	NM_032409.3(PINK1):c.170_175dup (p.Arg58_Val59insGlyArg)	MIR6084, PINK1	Duplication (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2200057	NM_032409.3(PINK1):c.1130G>T (p.Cys377Phe)	PINK1, PINK1-AS (C377F)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2193353	NM_032409.3(PINK1):c.1252-18C>T	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2193046	NM_032409.3(PINK1):c.1123+11G>A	PINK1-AS, PINK1	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2172555	NM_032409.3(PINK1):c.1510G>A (p.Ala504Thr)	PINK1, PINK1-AS (A504T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2165893	NM_032409.3(PINK1):c.1356C>T (p.Pro452=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2157524	NM_032409.3(PINK1):c.1107T>C (p.Leu369=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2155489	NM_032409.3(PINK1):c.1352A>T (p.Asn451Ile)	PINK1, PINK1-AS (N451I)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2149675	NM_032409.3(PINK1):c.1488+14C>T	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2143189	NM_032409.3(PINK1):c.1123+12C>G	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2142468	NM_032409.3(PINK1):c.173G>A (p.Arg58Lys)	MIR6084, PINK1 (R58K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2135841	NM_032409.3(PINK1):c.913C>G (p.Pro305Ala)	PINK1, PINK1-AS (P305A)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2123741	NM_032409.3(PINK1):c.1252-20C>A	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2116760	NM_032409.3(PINK1):c.1527_1530dup (p.Leu511fs)	PINK1, PINK1-AS (L511fs)	Duplication (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely pathogenic
Select item 2103886	NM_032409.3(PINK1):c.960-8T>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2075371	NM_032409.3(PINK1):c.837C>T (p.Arg279=)	PINK1, PINK1-AS	Single nucleotide variant (synonymous variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2060219	NM_032409.3(PINK1):c.1271G>A (p.Gly424Asp)	PINK1, PINK1-AS (G424D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2047254	NM_032409.3(PINK1):c.203_204delinsCT (p.Arg68Pro)	MIR6084, PINK1 (R68P)	Indel (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2042776	NM_032409.3(PINK1):c.1501C>T (p.Arg501Ter)	PINK1, PINK1-AS (R501*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2042262	NM_032409.3(PINK1):c.1265G>A (p.Arg422His)	PINK1, PINK1-AS (R422H)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 2042117	NM_032409.3(PINK1):c.1273C>T (p.Pro425Ser)	PINK1, PINK1-AS (P425S)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 2040476	NM_032409.3(PINK1):c.1488+20C>T	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 2020503	NM_032409.3(PINK1):c.1600C>T (p.Gln534Ter)	PINK1, PINK1-AS (Q534*)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GPathogenic
Select item 2020365	NM_032409.3(PINK1):c.1398C>T (p.Tyr466=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1985654	NM_032409.3(PINK1):c.1560G>A (p.Lys520=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1983417	NM_032409.3(PINK1):c.1176G>C (p.Glu392Asp)	PINK1, PINK1-AS (E392D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1983019	NM_032409.3(PINK1):c.853G>A (p.Val285Met)	PINK1, PINK1-AS (V285M)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1982487	NM_032409.3(PINK1):c.1124-10T>C	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1974976	NM_032409.3(PINK1):c.1367A>G (p.Gln456Arg)	PINK1, PINK1-AS (Q456R)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1962723	NM_032409.3(PINK1):c.1099A>C (p.Asn367His)	PINK1, PINK1-AS (N367H)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1957746	NM_032409.3(PINK1):c.202C>T (p.Arg68Cys)	MIR6084, PINK1 (R68C)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1956749	NM_032409.3(PINK1):c.1631_1632delinsCT (p.Leu544Pro)	PINK1, PINK1-AS (L544P)	Indel (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1927619	NM_032409.3(PINK1):c.1123+15C>T	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1927618	NM_032409.3(PINK1):c.184G>C (p.Gly62Arg)	MIR6084, PINK1 (G62R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1922868	NM_032409.3(PINK1):c.864_865delinsAA (p.Pro289Thr)	PINK1, PINK1-AS (P289T)	Indel (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1807126	NM_032409.3(PINK1):c.1183G>A (p.Gly395Ser)	PINK1, PINK1-AS (G395S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1719588	NM_032409.3(PINK1):c.1499C>G (p.Ala500Gly)	PINK1, PINK1-AS (A500G)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1699183	NM_032409.3(PINK1):c.898C>T (p.Pro300Ser)	PINK1, PINK1-AS (P300S)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1698421	NM_032409.3(PINK1):c.158G>A (p.Gly53Asp)	MIR6084, PINK1 (G53D)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1675350	NM_032409.3(PINK1):c.139G>C (p.Gly47Arg)	PINK1, MIR6084 (G47R)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +3 more	GUncertain significance
Select item 1670253	NM_032409.3(PINK1):c.1719C>T (p.Leu573=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1653728	NM_032409.3(PINK1):c.1011C>T (p.Arg337=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1644627	NM_032409.3(PINK1):c.1251+19A>G	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1644553	NM_032409.3(PINK1):c.177C>T (p.Val59=)	PINK1, MIR6084	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1642137	NM_032409.3(PINK1):c.960-13C>G	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1625504	NM_032409.3(PINK1):c.960-18del	PINK1, PINK1-AS	Deletion (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1621889	NM_032409.3(PINK1):c.1125C>T (p.Asp375=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1612101	NM_032409.3(PINK1):c.1251+9C>T	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1609977	NM_032409.3(PINK1):c.1488+17C>T	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1591617	NM_032409.3(PINK1):c.1689G>A (p.Glu563=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1587244	NM_032409.3(PINK1):c.1047C>A (p.Gly349=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1583410	NM_032409.3(PINK1):c.960-17T>C	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1578201	NM_032409.3(PINK1):c.1512A>C (p.Ala504=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1572154	NM_032409.3(PINK1):c.1017C>T (p.Ala339=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1565696	NM_032409.3(PINK1):c.1488+15G>A	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1551035	NM_032409.3(PINK1):c.1419A>G (p.Ala473=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1550627	NM_032409.3(PINK1):c.1260G>A (p.Thr420=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1537675	NM_032409.3(PINK1):c.960-12C>A	PINK1, PINK1-AS	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1517107	NM_032409.3(PINK1):c.1009C>T (p.Arg337Cys)	PINK1, PINK1-AS (R337C)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1510457	NM_032409.3(PINK1):c.141C>G (p.Gly47=)	MIR6084, PINK1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GLikely benign
Select item 1507469	NM_032409.3(PINK1):c.1544A>G (p.His515Arg)	PINK1, PINK1-AS (H515R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1479260	NM_032409.3(PINK1):c.902C>T (p.Ser301Leu)	PINK1, PINK1-AS (S301L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1475039	NM_032409.3(PINK1):c.805G>A (p.Ala269Thr)	PINK1, PINK1-AS (A269T)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1470144	NM_032409.3(PINK1):c.1264C>T (p.Arg422Cys)	PINK1, PINK1-AS (R422C)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1447757	NM_032409.3(PINK1):c.1627A>G (p.Arg543Gly)	PINK1, PINK1-AS (R543G)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1446048	NM_032409.3(PINK1):c.1024A>G (p.Met342Val)	PINK1, PINK1-AS (M342V)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1442648	NM_032409.3(PINK1):c.1167G>A (p.Leu389=)	PINK1, PINK1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1436397	NM_032409.3(PINK1):c.1219C>T (p.Arg407Trp)	PINK1, PINK1-AS (R407W)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance
Select item 1432306	NM_032409.3(PINK1):c.1475G>A (p.Arg492Gln)	PINK1, PINK1-AS (R492Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6	GUncertain significance

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