"Ambry Genetics"[submitter] AND "POLN"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2599017	NM_181808.4(POLN):c.2687C>T (p.Pro896Leu)	POLN (P896L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515766	NM_181808.4(POLN):c.2614G>C (p.Glu872Gln)	POLN (E872Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614635	NM_181808.4(POLN):c.2587G>A (p.Gly863Ser)	POLN (G863S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594194	NM_181808.4(POLN):c.2475G>A (p.Met825Ile)	POLN (M825I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276522	NM_181808.4(POLN):c.2459T>A (p.Leu820His)	POLN (L820H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214729	NM_181808.4(POLN):c.2444C>T (p.Pro815Leu)	POLN (P815L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273161	NM_181808.4(POLN):c.2251C>G (p.His751Asp)	POLN (H751D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299784	NM_181808.4(POLN):c.2138A>C (p.Gln713Pro)	POLN (Q713P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257377	NM_181808.4(POLN):c.2057A>G (p.Tyr686Cys)	POLN (Y686C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203874	NM_181808.4(POLN):c.2004G>C (p.Gln668His)	POLN (Q668H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2484881	NM_181808.4(POLN):c.1985A>C (p.Lys662Thr)	POLN (K662T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521053	NM_181808.4(POLN):c.1969C>G (p.Leu657Val)	POLN (L657V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272685	NM_181808.4(POLN):c.1964C>T (p.Ser655Phe)	POLN (S655F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345383	NM_181808.4(POLN):c.1889G>A (p.Arg630His)	POLN (R630H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388160	NM_181808.4(POLN):c.1879A>G (p.Ile627Val)	POLN (I627V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363975	NM_181808.4(POLN):c.1589A>C (p.Lys530Thr)	POLN (K530T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550721	NM_181808.4(POLN):c.1424G>A (p.Arg475Gln)	POLN (R475Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2601395	NM_181808.4(POLN):c.1399G>A (p.Glu467Lys)	POLN (E467K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375093	NM_181808.4(POLN):c.1379G>A (p.Arg460His)	POLN (R460H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557962	NM_181808.4(POLN):c.1328T>C (p.Ile443Thr)	LOC126806946, POLN (I443T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301738	NM_181808.4(POLN):c.1282G>C (p.Glu428Gln)	POLN (E428Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591036	NM_181808.4(POLN):c.1274G>A (p.Arg425His)	POLN (R425H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537277	NM_181808.4(POLN):c.1264C>A (p.Gln422Lys)	POLN (Q422K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227735	NM_181808.4(POLN):c.1192C>T (p.Arg398Cys)	POLN (R398C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2612569	NM_181808.4(POLN):c.1177G>A (p.Val393Met)	POLN (V393M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260680	NM_181808.4(POLN):c.1159A>T (p.Asn387Tyr)	POLN (N387Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379322	NM_181808.4(POLN):c.1133C>T (p.Thr378Ile)	POLN (T378I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539606	NM_181808.4(POLN):c.1088C>T (p.Pro363Leu)	POLN (P363L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512036	NM_181808.4(POLN):c.892C>T (p.His298Tyr)	POLN (H298Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233310	NM_181808.4(POLN):c.748T>G (p.Leu250Val)	POLN (L250V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209661	NM_181808.4(POLN):c.712C>A (p.Gln238Lys)	POLN (Q238K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342101	NM_181808.4(POLN):c.664G>T (p.Val222Leu)	POLN (V222L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344755	NM_181808.4(POLN):c.544G>A (p.Glu182Lys)	POLN (E182K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2372714	NM_181808.4(POLN):c.529G>T (p.Asp177Tyr)	POLN (D177Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2319621	NM_181808.4(POLN):c.177A>C (p.Gln59His)	POLN (Q59H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228620	NM_181808.4(POLN):c.176A>G (p.Gln59Arg)	POLN (Q59R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619104	NM_181808.4(POLN):c.128C>T (p.Thr43Ile)	HAUS3, POLN (T43I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484777	NM_181808.4(POLN):c.115T>C (p.Trp39Arg)	HAUS3, POLN (W39R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296432	NM_181808.4(POLN):c.95A>T (p.Asp32Val)	HAUS3, POLN (D32V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234481	NM_181808.4(POLN):c.92G>A (p.Gly31Asp)	POLN, HAUS3 (G31D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489982	NM_001303143.2(HAUS3):c.1760T>C (p.Val587Ala)	HAUS3, POLN (V587A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300811	NM_001303143.2(HAUS3):c.1759G>A (p.Val587Met)	HAUS3, POLN (V587M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204042	NM_001303143.2(HAUS3):c.1553G>A (p.Gly518Glu)	POLN, HAUS3 (G518E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553752	NM_001303143.2(HAUS3):c.1513A>G (p.Lys505Glu)	HAUS3, POLN (K505E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279553	NM_001303143.2(HAUS3):c.1369G>A (p.Gly457Arg)	HAUS3, POLN (G457R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363750	NM_001303143.2(HAUS3):c.1333G>A (p.Asp445Asn)	POLN, HAUS3 (D445N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266682	NM_001303143.2(HAUS3):c.1250T>G (p.Met417Arg)	HAUS3, POLN (M417R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374831	NM_001303143.2(HAUS3):c.1229A>G (p.Gln410Arg)	POLN, HAUS3 (Q410R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545458	NM_001303143.2(HAUS3):c.1208G>T (p.Arg403Leu)	HAUS3, POLN (R403L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354642	NM_001303143.2(HAUS3):c.1003A>G (p.Ser335Gly)	HAUS3, POLN (S335G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393887	NM_001303143.2(HAUS3):c.946A>G (p.Ser316Gly)	HAUS3, POLN (S316G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316190	NM_001303143.2(HAUS3):c.940A>T (p.Ile314Phe)	POLN, HAUS3 (I314F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520633	NM_001303143.2(HAUS3):c.808A>G (p.Ile270Val)	HAUS3, POLN (I270V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364784	NM_001303143.2(HAUS3):c.779T>C (p.Leu260Pro)	HAUS3, POLN (L260P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516081	NM_001303143.2(HAUS3):c.704A>G (p.Glu235Gly)	HAUS3, POLN (E235G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520799	NM_001303143.2(HAUS3):c.660A>T (p.Lys220Asn)	HAUS3, POLN (K220N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558009	NM_001303143.2(HAUS3):c.635C>T (p.Ala212Val)	HAUS3, POLN (A212V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219950	NM_001303143.2(HAUS3):c.434C>T (p.Thr145Ile)	POLN, HAUS3 (T145I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386799	NM_001303143.2(HAUS3):c.428A>C (p.Glu143Ala)	POLN, HAUS3 (E143A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410016	NM_001303143.2(HAUS3):c.359G>T (p.Arg120Leu)	HAUS3, POLN (R120L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213282	NM_001303143.2(HAUS3):c.351T>G (p.Ile117Met)	POLN, HAUS3 (I117M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254973	NM_001303143.2(HAUS3):c.298G>A (p.Glu100Lys)	POLN, HAUS3 (E100K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246753	NM_001303143.2(HAUS3):c.274C>G (p.Pro92Ala)	HAUS3, POLN (P92A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616924	NM_001303143.2(HAUS3):c.215T>C (p.Leu72Pro)	HAUS3, POLN (L72P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2567747	NM_001303143.2(HAUS3):c.140T>C (p.Val47Ala)	HAUS3, POLN (V47A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 65