ClinVar for Gene (Select 353497) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308491	NM_181808.4(POLN):c.398G>A (p.Gly133Glu)	POLN (G133E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3308489	NM_181808.4(POLN):c.2545G>A (p.Gly849Ser)	POLN (G849S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283529	NM_001303143.2(HAUS3):c.509C>G (p.Thr170Ser)	HAUS3, POLN (T170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283528	NM_001303143.2(HAUS3):c.1319C>A (p.Thr440Asn)	HAUS3, POLN (T440N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283526	NM_001303143.2(HAUS3):c.441G>T (p.Lys147Asn)	HAUS3, POLN (K147N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283525	NM_001303143.2(HAUS3):c.36A>T (p.Lys12Asn)	HAUS3, POLN (K12N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283524	NM_001303143.2(HAUS3):c.1275G>A (p.Met425Ile)	HAUS3, POLN (M425I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3283523	NM_001303143.2(HAUS3):c.544C>G (p.His182Asp)	HAUS3, POLN (H182D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283522	NM_001303143.2(HAUS3):c.343C>G (p.Leu115Val)	HAUS3, POLN (L115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283521	NM_001303143.2(HAUS3):c.491A>G (p.Asn164Ser)	HAUS3, POLN (N164S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283520	NM_001303143.2(HAUS3):c.14A>T (p.Asn5Ile)	HAUS3, POLN (N5I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
Select item 3216398	NM_181808.4(POLN):c.982G>A (p.Val328Met)	POLN (V328M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216397	NM_181808.4(POLN):c.845A>G (p.Tyr282Cys)	POLN (Y282C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216396	NM_181808.4(POLN):c.838T>A (p.Cys280Ser)	POLN (C280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216395	NM_181808.4(POLN):c.719C>T (p.Pro240Leu)	POLN (P240L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216394	NM_181808.4(POLN):c.598A>G (p.Ile200Val)	POLN (I200V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3216392	NM_181808.4(POLN):c.2504A>T (p.Glu835Val)	POLN (E835V)	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 3216390	NM_181808.4(POLN):c.227T>C (p.Leu76Ser)	POLN (L76S)	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 3216388	NM_181808.4(POLN):c.2014G>A (p.Ala672Thr)	POLN (A672T)	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 3216386	NM_181808.4(POLN):c.1726C>T (p.His576Tyr)	POLN (H576Y)	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 3104327	NM_001303143.2(HAUS3):c.944C>G (p.Ser315Cys)	HAUS3, POLN (S315C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104326	NM_001303143.2(HAUS3):c.797A>G (p.Gln266Arg)	HAUS3, POLN (Q266R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104325	NM_001303143.2(HAUS3):c.776G>A (p.Arg259Gln)	HAUS3, POLN (R259Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104323	NM_001303143.2(HAUS3):c.1678T>G (p.Leu560Val)	HAUS3, POLN (L560V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104322	NM_001303143.2(HAUS3):c.1494C>A (p.Phe498Leu)	HAUS3, POLN (F498L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104321	NM_001303143.2(HAUS3):c.1303A>G (p.Ile435Val)	HAUS3, POLN (I435V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	CYTL1, DEFB131A +117 more	Copy number loss	not provided	GPathogenic
Select item 2689195	NM_001303143.2(HAUS3):c.1679T>C (p.Leu560Ser)	HAUS3, POLN (L560S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2685036	GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4	FAM53A, FGFR3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2654588	NM_181808.4(POLN):c.757C>T (p.Arg253Cys)	POLN (R253C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2619104	NM_181808.4(POLN):c.128C>T (p.Thr43Ile)	HAUS3, POLN (T43I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616924	NM_001303143.2(HAUS3):c.215T>C (p.Leu72Pro)	HAUS3, POLN (L72P)	Single nucleotide variant (missense variant +1 more)	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 2612569	NM_181808.4(POLN):c.1177G>A (p.Val393Met)	POLN (V393M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2599017	NM_181808.4(POLN):c.2687C>T (p.Pro896Leu)	POLN (P896L)	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 2591036	NM_181808.4(POLN):c.1274G>A (p.Arg425His)	POLN (R425H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ABLIM2, ACOX3 +132 more	Copy number loss	not provided	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 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2567747	NM_001303143.2(HAUS3):c.140T>C (p.Val47Ala)	HAUS3, POLN (V47A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558009	NM_001303143.2(HAUS3):c.635C>T (p.Ala212Val)	HAUS3, POLN (A212V)	Single nucleotide variant (missense variant +1 more)	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 2553752	NM_001303143.2(HAUS3):c.1513A>G (p.Lys505Glu)	HAUS3, POLN (K505E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2545458	NM_001303143.2(HAUS3):c.1208G>T (p.Arg403Leu)	HAUS3, POLN (R403L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539606	NM_181808.4(POLN):c.1088C>T (p.Pro363Leu)	POLN (P363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537277	NM_181808.4(POLN):c.1264C>A (p.Gln422Lys)	POLN (Q422K)	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 2520799	NM_001303143.2(HAUS3):c.660A>T (p.Lys220Asn)	HAUS3, POLN (K220N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520633	NM_001303143.2(HAUS3):c.808A>G (p.Ile270Val)	HAUS3, POLN (I270V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516081	NM_001303143.2(HAUS3):c.704A>G (p.Glu235Gly)	HAUS3, POLN (E235G)	Single nucleotide variant (missense variant +1 more)	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 2512036	NM_181808.4(POLN):c.892C>T (p.His298Tyr)	POLN (H298Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489982	NM_001303143.2(HAUS3):c.1760T>C (p.Val587Ala)	HAUS3, POLN (V587A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2484777	NM_181808.4(POLN):c.115T>C (p.Trp39Arg)	HAUS3, POLN (W39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2410016	NM_001303143.2(HAUS3):c.359G>T (p.Arg120Leu)	HAUS3, POLN (R120L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393887	NM_001303143.2(HAUS3):c.946A>G (p.Ser316Gly)	HAUS3, POLN (S316G)	Single nucleotide variant (missense variant +1 more)	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 2386799	NM_001303143.2(HAUS3):c.428A>C (p.Glu143Ala)	HAUS3, POLN (E143A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379322	NM_181808.4(POLN):c.1133C>T (p.Thr378Ile)	POLN (T378I)	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 2374831	NM_001303143.2(HAUS3):c.1229A>G (p.Gln410Arg)	HAUS3, POLN (Q410R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372714	NM_181808.4(POLN):c.529G>T (p.Asp177Tyr)	POLN (D177Y)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2364784	NM_001303143.2(HAUS3):c.779T>C (p.Leu260Pro)	HAUS3, POLN (L260P)	Single nucleotide variant (missense variant +1 more)	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 2363750	NM_001303143.2(HAUS3):c.1333G>A (p.Asp445Asn)	HAUS3, POLN (D445N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354642	NM_001303143.2(HAUS3):c.1003A>G (p.Ser335Gly)	HAUS3, POLN (S335G)	Single nucleotide variant (missense variant +1 more)	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 2344755	NM_181808.4(POLN):c.544G>A (p.Glu182Lys)	POLN (E182K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2342101	NM_181808.4(POLN):c.664G>T (p.Val222Leu)	POLN (V222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319621	NM_181808.4(POLN):c.177A>C (p.Gln59His)	POLN (Q59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316190	NM_001303143.2(HAUS3):c.940A>T (p.Ile314Phe)	HAUS3, POLN (I314F)	Single nucleotide variant (missense variant +1 more)	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 2300811	NM_001303143.2(HAUS3):c.1759G>A (p.Val587Met)	HAUS3, POLN (V587M)	Single nucleotide variant (missense variant +1 more)	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 2296432	NM_181808.4(POLN):c.95A>T (p.Asp32Val)	HAUS3, POLN (D32V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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