POLQ[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 3290

<< First< Prev

Page of 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 1760552	NM_199420.4(POLQ):c.7770G>C (p.Val2590=)	LOC129937343, POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1760523	NM_199420.4(POLQ):c.7768G>A (p.Val2590Met)	POLQ (V2590M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308725	NM_199420.4(POLQ):c.7767T>C (p.Asp2589=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1760515	NM_199420.4(POLQ):c.7764T>C (p.Phe2588=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1760505	NM_199420.4(POLQ):c.7761C>T (p.Asp2587=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3308638	NM_199420.4(POLQ):c.7760A>T (p.Asp2587Val)	POLQ (D2587V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3230175	NM_199420.4(POLQ):c.7759G>T (p.Asp2587Tyr)	POLQ (D2587Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760423	NM_199420.4(POLQ):c.7748G>C (p.Gly2583Ala)	POLQ (G2583A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760420	NM_199420.4(POLQ):c.7747G>A (p.Gly2583Arg)	POLQ (G2583R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760414	NM_199420.4(POLQ):c.7744T>G (p.Trp2582Gly)	POLQ (W2582G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760408	NM_199420.4(POLQ):c.7743C>T (p.Ser2581=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1760379	NM_199420.4(POLQ):c.7737C>T (p.Gly2579=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1760368	NM_199420.4(POLQ):c.7734A>G (p.Ile2578Met)	POLQ (I2578M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760364	NM_199420.4(POLQ):c.7732A>T (p.Ile2578Leu)	POLQ (I2578L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760363	NM_199420.4(POLQ):c.7732A>G (p.Ile2578Val)	POLQ (I2578V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760359	NM_199420.4(POLQ):c.7730A>G (p.Lys2577Arg)	POLQ (K2577R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3230174	NM_199420.4(POLQ):c.7727T>A (p.Val2576Glu)	POLQ (V2576E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760284	NM_199420.4(POLQ):c.7717A>C (p.Lys2573Gln)	POLQ (K2573Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760277	NM_199420.4(POLQ):c.7713A>G (p.Lys2571=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2303416	NM_199420.4(POLQ):c.7709T>G (p.Val2570Gly)	POLQ (V2570G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308635	NM_199420.4(POLQ):c.7706C>A (p.Ser2569Tyr)	POLQ (S2569Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760229	NM_199420.4(POLQ):c.7704G>C (p.Leu2568=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1760228	NM_199420.4(POLQ):c.7704G>A (p.Leu2568=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3230173	NM_199420.4(POLQ):c.7703T>A (p.Leu2568Gln)	POLQ (L2568Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561750	NM_199420.4(POLQ):c.7697T>C (p.Val2566Ala)	POLQ (V2566A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308619	NM_199420.4(POLQ):c.7696G>A (p.Val2566Ile)	POLQ (V2566I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3230172	NM_199420.4(POLQ):c.7695T>A (p.Ala2565=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2625832	NM_199420.4(POLQ):c.7695T>C (p.Ala2565=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3230171	NM_199420.4(POLQ):c.7693G>T (p.Ala2565Ser)	POLQ (A2565S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760162	NM_199420.4(POLQ):c.7692T>C (p.Ser2564=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3308712	NM_199420.4(POLQ):c.7687G>C (p.Glu2563Gln)	POLQ (E2563Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760128	NM_199420.4(POLQ):c.7685T>C (p.Met2562Thr)	POLQ (M2562T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497198	NM_199420.4(POLQ):c.7684A>C (p.Met2562Leu)	POLQ (M2562L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448892	NM_199420.4(POLQ):c.7684A>G (p.Met2562Val)	POLQ (M2562V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448793	NM_199420.4(POLQ):c.7681G>A (p.Glu2561Lys)	POLQ (E2561K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3230170	NM_199420.4(POLQ):c.7677G>T (p.Lys2559Asn)	POLQ (K2559N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563810	NM_199420.4(POLQ):c.7676A>G (p.Lys2559Arg)	POLQ (K2559R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563884	NM_199420.4(POLQ):c.7674C>G (p.Val2558=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1760088	NM_199420.4(POLQ):c.7673T>C (p.Val2558Ala)	POLQ (V2558A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760083	NM_199420.4(POLQ):c.7672G>T (p.Val2558Phe)	POLQ (V2558F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760081	NM_199420.4(POLQ):c.7672G>C (p.Val2558Leu)	POLQ (V2558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760079	NM_199420.4(POLQ):c.7672G>A (p.Val2558Ile)	POLQ (V2558I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1760038	NM_199420.4(POLQ):c.7662A>G (p.Val2554=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448634	NM_199420.4(POLQ):c.7660G>A (p.Val2554Ile)	POLQ (V2554I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448990	NM_199420.4(POLQ):c.7657C>G (p.Gln2553Glu)	POLQ (Q2553E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563790	NM_199420.4(POLQ):c.7654G>C (p.Val2552Leu)	POLQ (V2552L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759991	NM_199420.4(POLQ):c.7654G>T (p.Val2552Phe)	POLQ (V2552F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3230168	NM_199420.4(POLQ):c.7653T>C (p.Val2551=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1759989	NM_199420.4(POLQ):c.7653T>G (p.Val2551=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3230167	NM_199420.4(POLQ):c.7651G>A (p.Val2551Ile)	POLQ (V2551I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759986	NM_199420.4(POLQ):c.7650T>C (p.Asp2550=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1759959	NM_199420.4(POLQ):c.7647A>T (p.Glu2549Asp)	POLQ (E2549D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448853	NM_199420.4(POLQ):c.7642G>C (p.Glu2548Gln)	POLQ (E2548Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3230166	NM_199420.4(POLQ):c.7641A>C (p.Ala2547=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3057175	NM_199420.4(POLQ):c.7640C>T (p.Ala2547Val)	POLQ (A2547V)	Single nucleotide variant (missense variant)	POLQ-related disorder	GBenign
Select item 2449033	NM_199420.4(POLQ):c.7639G>A (p.Ala2547Thr)	POLQ (A2547T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308495	NM_199420.4(POLQ):c.7638G>T (p.Val2546=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1759911	NM_199420.4(POLQ):c.7632T>C (p.Tyr2544=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1759905	NM_199420.4(POLQ):c.7630T>C (p.Tyr2544His)	POLQ (Y2544H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497146	NM_199420.4(POLQ):c.7629A>G (p.Leu2543=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2625836	NM_199420.4(POLQ):c.7628T>A (p.Leu2543Gln)	POLQ (L2543Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759863	NM_199420.4(POLQ):c.7628T>C (p.Leu2543Pro)	POLQ (L2543P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448965	NM_199420.4(POLQ):c.7627C>A (p.Leu2543Ile)	POLQ (L2543I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759859	NM_199420.4(POLQ):c.7626C>T (p.Leu2542=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1759857	NM_199420.4(POLQ):c.7624C>G (p.Leu2542Val)	POLQ (L2542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759856	NM_199420.4(POLQ):c.7624C>A (p.Leu2542Ile)	POLQ (L2542I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308639	NM_199420.4(POLQ):c.7623A>C (p.Glu2541Asp)	POLQ (E2541D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759853	NM_199420.4(POLQ):c.7622A>G (p.Glu2541Gly)	POLQ (E2541G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759827	NM_199420.4(POLQ):c.7618G>A (p.Asp2540Asn)	POLQ (D2540N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759823	NM_199420.4(POLQ):c.7617T>C (p.His2539=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3056748	NM_199420.4(POLQ):c.7612C>G (p.Leu2538Val)	POLQ (L2538V)	Single nucleotide variant (missense variant)	POLQ-related disorder	GBenign
Select item 1759803	NM_199420.4(POLQ):c.7611A>G (p.Gln2537=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1759802	NM_199420.4(POLQ):c.7611A>C (p.Gln2537His)	POLQ (Q2537H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050367	NM_199420.4(POLQ):c.7610A>C (p.Gln2537Pro)	POLQ (Q2537P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3308606	NM_199420.4(POLQ):c.7607T>C (p.Leu2536Pro)	POLQ (L2536P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759765	NM_199420.4(POLQ):c.7602C>T (p.Phe2534=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3308552	NM_199420.4(POLQ):c.7601T>C (p.Phe2534Ser)	POLQ (F2534S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759763	NM_199420.4(POLQ):c.7600T>G (p.Phe2534Val)	POLQ (F2534V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759681	NM_199420.4(POLQ):c.7599C>T (p.Phe2533=)	POLQ	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3230165	NM_199420.4(POLQ):c.7595G>C (p.Gly2532Ala)	POLQ (G2532A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3230164	NM_199420.4(POLQ):c.7592G>T (p.Gly2531Val)	POLQ (G2531V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561748	NM_199420.4(POLQ):c.7592G>A (p.Gly2531Glu)	POLQ (G2531E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759637	NM_199420.4(POLQ):c.7588A>G (p.Arg2530Gly)	POLQ (R2530G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759629	NM_199420.4(POLQ):c.7585A>G (p.Ile2529Val)	POLQ (I2529V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1759625	NM_199420.4(POLQ):c.7582C>T (p.Pro2528Ser)	POLQ (P2528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759622	NM_199420.4(POLQ):c.7580G>T (p.Cys2527Phe)	POLQ (C2527F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759621	NM_199420.4(POLQ):c.7580G>A (p.Cys2527Tyr)	POLQ (C2527Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759596	NM_199420.4(POLQ):c.7575G>C (p.Met2525Ile)	POLQ (M2525I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759594	NM_199420.4(POLQ):c.7575G>A (p.Met2525Ile)	POLQ (M2525I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759590	NM_199420.4(POLQ):c.7574T>C (p.Met2525Thr)	POLQ (M2525T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3230163	NM_199420.4(POLQ):c.7573A>T (p.Met2525Leu)	POLQ (M2525L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 33