POLN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 150615	GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	ADD1, ADRA2C +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991977, LOC129991978 +283 more	Copy number gain	See cases	GPathogenic
Select item 150122	GRCh38/hg38 4p16.3(chr4:36424-3265531)x1	ADD1, ATP5ME +250 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	ADD1, ADRA2C +277 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57275	GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	ADD1, ADRA2C +277 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	ABLIM2, ADD1 +461 more	Copy number gain	See cases	GPathogenic
Select item 57898	GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	LOC129991962, LOC129991963 +137 more	Copy number loss	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC101928279, LOC101928306 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 161057	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 more	Copy number loss	See cases	GPathogenic
Select item 155257	GRCh38/hg38 4p16.3(chr4:72555-2689579)x1	LOC129992008, LOC129992009 +175 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	ADD1, ATP5ME +274 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ATP5ME, CFAP99 +290 more	Copy number loss	See cases	GPathogenic
Select item 147562	GRCh38/hg38 4p16.3(chr4:72555-3561655)x1	ADD1, ATP5ME +271 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	ADD1, ADRA2C +313 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	ADD1, ADRA2C +323 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	ADD1, ADRA2C +322 more	Copy number loss	See cases	GPathogenic
Select item 57933	GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	ADD1, ADRA2C +278 more	Copy number gain	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	LOC129991980, LOC129991981 +319 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 57903	GRCh38/hg38 4p16.3(chr4:72555-2325477)x1	ATP5ME, CPLX1 +152 more	Copy number loss	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	NSD2, NSG1 +438 more	Copy number loss	See cases	GPathogenic
Select item 57159	GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	ATP5ME, CPLX1 +134 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 59419	GRCh38/hg38 4p16.3(chr4:336191-2213205)x1	ATP5ME, CPLX1 +131 more	Copy number loss	See cases	GPathogenic
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	LOC129991981, LOC129991982 +206 more	Copy number gain	See cases	GPathogenic
Select item 148893	GRCh38/hg38 4p16.3(chr4:1723429-2286479)x3	FGFR3, HAUS3 +37 more	Copy number gain	See cases	GUncertain significance
Select item 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 154242	GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1	ADD1, CFAP99 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 149071	GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3	ADD1, ADRA2C +149 more	Copy number gain	See cases	GUncertain significance
Select item 2599017	NM_181808.4(POLN):c.2687C>T (p.Pro896Leu)	POLN (P896L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216393	NM_181808.4(POLN):c.2647T>A (p.Ser883Thr)	POLN (S883T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515766	NM_181808.4(POLN):c.2614G>C (p.Glu872Gln)	POLN (E872Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614635	NM_181808.4(POLN):c.2587G>A (p.Gly863Ser)	POLN (G863S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308489	NM_181808.4(POLN):c.2545G>A (p.Gly849Ser)	POLN (G849S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715710	NM_181808.4(POLN):c.2509del (p.Gln837fs)	POLN (Q837fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 3216392	NM_181808.4(POLN):c.2504A>T (p.Glu835Val)	POLN (E835V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594194	NM_181808.4(POLN):c.2475G>A (p.Met825Ile)	POLN (M825I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276522	NM_181808.4(POLN):c.2459T>A (p.Leu820His)	POLN (L820H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214729	NM_181808.4(POLN):c.2444C>T (p.Pro815Leu)	POLN (P815L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216391	NM_181808.4(POLN):c.2392G>A (p.Val798Met)	POLN (V798M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161845	NM_181808.4(POLN):c.2267G>A (p.Arg756Gln)	POLN (R756Q)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2273161	NM_181808.4(POLN):c.2251C>G (p.His751Asp)	POLN (H751D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216389	NM_181808.4(POLN):c.2164G>A (p.Ala722Thr)	POLN (A722T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299784	NM_181808.4(POLN):c.2138A>C (p.Gln713Pro)	POLN (Q713P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782438	NM_181808.4(POLN):c.2133T>G (p.Phe711Leu)	POLN (F711L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2257377	NM_181808.4(POLN):c.2057A>G (p.Tyr686Cys)	POLN (Y686C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654587	NM_181808.4(POLN):c.2048C>T (p.Ala683Val)	POLN (A683V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3216388	NM_181808.4(POLN):c.2014G>A (p.Ala672Thr)	POLN (A672T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203874	NM_181808.4(POLN):c.2004G>C (p.Gln668His)	POLN (Q668H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2484881	NM_181808.4(POLN):c.1985A>C (p.Lys662Thr)	POLN (K662T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521053	NM_181808.4(POLN):c.1969C>G (p.Leu657Val)	POLN (L657V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216387	NM_181808.4(POLN):c.1966A>G (p.Thr656Ala)	POLN (T656A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272685	NM_181808.4(POLN):c.1964C>T (p.Ser655Phe)	POLN (S655F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345383	NM_181808.4(POLN):c.1889G>A (p.Arg630His)	POLN (R630H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388160	NM_181808.4(POLN):c.1879A>G (p.Ile627Val)	POLN (I627V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216386	NM_181808.4(POLN):c.1726C>T (p.His576Tyr)	POLN (H576Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308490	NM_181808.4(POLN):c.1700C>A (p.Thr567Asn)	POLN (T567N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363975	NM_181808.4(POLN):c.1589A>C (p.Lys530Thr)	POLN (K530T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216385	NM_181808.4(POLN):c.1568G>A (p.Arg523Gln)	POLN (R523Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2550721	NM_181808.4(POLN):c.1424G>A (p.Arg475Gln)	POLN (R475Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2601395	NM_181808.4(POLN):c.1399G>A (p.Glu467Lys)	POLN (E467K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375093	NM_181808.4(POLN):c.1379G>A (p.Arg460His)	POLN (R460H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557962	NM_181808.4(POLN):c.1328T>C (p.Ile443Thr)	LOC126806946, POLN (I443T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301738	NM_181808.4(POLN):c.1282G>C (p.Glu428Gln)	POLN (E428Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591036	NM_181808.4(POLN):c.1274G>A (p.Arg425His)	POLN (R425H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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