POLI[gene] and "single gene"[properties] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2481804	NM_007195.3(POLI):c.67G>A (p.Ala23Thr)	POLI (A23T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2295587	NM_007195.3(POLI):c.187T>G (p.Phe63Val)	POLI (F63V +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3216352	NM_007195.3(POLI):c.208A>G (p.Ile70Val)	POLI (I2V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3308474	NM_007195.3(POLI):c.212C>T (p.Ser71Leu)	POLI (S46L +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2239857	NM_007195.3(POLI):c.229G>C (p.Asp77His)	POLI (D52H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2331230	NM_007195.3(POLI):c.257A>G (p.Tyr86Cys)	POLI (Y44C +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249269	NM_007195.3(POLI):c.276C>G (p.Asn92Lys)	POLI (N67K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216355	NM_007195.3(POLI):c.311T>C (p.Met104Thr)	POLI (M1T +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2473378	NM_007195.3(POLI):c.311T>G (p.Met104Arg)	POLI (M62R +4 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3216356	NM_007195.3(POLI):c.362G>A (p.Gly121Glu)	POLI (G18E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280813	NM_007195.3(POLI):c.374C>G (p.Thr125Ser)	POLI (T22S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605483	NM_007195.3(POLI):c.388A>G (p.Met130Val)	POLI (M62V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609559	NM_007195.3(POLI):c.424A>C (p.Ser142Arg)	POLI (S100R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216357	NM_007195.3(POLI):c.588C>G (p.Ile196Met)	POLI (I154M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3216358	NM_007195.3(POLI):c.731C>T (p.Thr244Ile)	POLI (T219I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226148	NM_007195.3(POLI):c.757C>T (p.His253Tyr)	POLI (H185Y +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222335	NM_007195.3(POLI):c.781A>C (p.Ile261Leu)	POLI (I193L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387327	NM_007195.3(POLI):c.836G>C (p.Gly279Ala)	POLI (G254A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219669	NM_007195.3(POLI):c.1027A>G (p.Lys343Glu)	POLI (K162E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308471	NM_007195.3(POLI):c.1036A>T (p.Ile346Phe)	POLI (I225F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531457	NM_007195.3(POLI):c.1094A>C (p.His365Pro)	POLI (H297P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590547	NM_007195.3(POLI):c.1121A>G (p.Tyr374Cys)	POLI (Y193C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600707	NM_007195.3(POLI):c.1138T>A (p.Tyr380Asn)	POLI (Y301N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216347	NM_007195.3(POLI):c.1153C>T (p.Arg385Cys)	POLI (R317C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216349	NM_007195.3(POLI):c.1228G>C (p.Asp410His)	POLI (D289H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551502	NM_007195.3(POLI):c.1256T>C (p.Met419Thr)	POLI (M159T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269981	NM_007195.3(POLI):c.1416C>G (p.Asp472Glu)	POLI (D404E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327250	NM_007195.3(POLI):c.1522A>G (p.Asn508Asp)	POLI (N483D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405840	NM_007195.3(POLI):c.1543A>G (p.Ile515Val)	POLI (I255V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216350	NM_007195.3(POLI):c.1691C>A (p.Ala564Asp)	POLI (A304D +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308476	NM_007195.3(POLI):c.1694C>T (p.Ser565Phe)	POLI (S305F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272020	NM_007195.3(POLI):c.1708T>C (p.Ser570Pro)	POLI (S389P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273770	NM_007195.3(POLI):c.1715T>G (p.Phe572Cys)	POLI (F493C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216351	NM_007195.3(POLI):c.1733A>G (p.Gln578Arg)	POLI (Q318R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308475	NM_007195.3(POLI):c.1736A>G (p.Asp579Gly)	POLI (D319G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308479	NM_007195.3(POLI):c.1768A>G (p.Ser590Gly)	POLI (S330G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308472	NM_007195.3(POLI):c.1780G>C (p.Val594Leu)	POLI (V413L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308470	NM_007195.3(POLI):c.1790T>C (p.Val597Ala)	POLI (V518A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529158	NM_007195.3(POLI):c.1855A>G (p.Lys619Glu)	POLI (K516E +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294037	NM_007195.3(POLI):c.1867T>C (p.Tyr623His)	POLI (Y555H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349537	NM_007195.3(POLI):c.1898G>A (p.Arg633Gln)	POLI (R373Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226389	NM_007195.3(POLI):c.1907A>C (p.Gln636Pro)	POLI (Q557P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274532	NM_007195.3(POLI):c.1964C>T (p.Ala655Val)	POLI (A395V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2545724	NM_007195.3(POLI):c.2000T>C (p.Leu667Pro)	POLI (L486P +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298005	NM_007195.3(POLI):c.2006C>T (p.Ser669Phe)	POLI (S488F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308477	NM_007195.3(POLI):c.2023G>A (p.Asp675Asn)	POLI (D415N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308478	NM_007195.3(POLI):c.2072A>G (p.Glu691Gly)	POLI (E588G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216353	NM_007195.3(POLI):c.2092G>A (p.Val698Ile)	POLI (V595I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465216	NM_007195.3(POLI):c.2137T>C (p.Phe713Leu)	POLI (F645L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 49