RECQL5[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 198

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 3054599	NM_004259.7(RECQL5):c.2950C>T (p.His984Tyr)	RECQL5 (H984Y)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 2344935	NM_004259.7(RECQL5):c.2936G>A (p.Ser979Asn)	RECQL5 (S979N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036767	NM_004259.7(RECQL5):c.2931C>T (p.Cys977=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3351025	NM_004259.7(RECQL5):c.2927G>A (p.Arg976Gln)	RECQL5 (R976Q)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 3051239	NM_004259.7(RECQL5):c.2925C>T (p.Ala975=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3032266	NM_004259.7(RECQL5):c.2876-4G>A	RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GLikely benign
Select item 721351	NM_004259.7(RECQL5):c.2875+6C>T	RECQL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 719399	NM_004259.7(RECQL5):c.2828G>A (p.Arg943His)	RECQL5 (R943H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2365236	NM_004259.7(RECQL5):c.2827C>T (p.Arg943Cys)	RECQL5 (R943C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408773	NM_004259.7(RECQL5):c.2825C>T (p.Ala942Val)	RECQL5 (A942V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152855	NM_004259.7(RECQL5):c.2817A>T (p.Lys939Asn)	RECQL5 (K939N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721458	NM_004259.7(RECQL5):c.2806-2A>G	RECQL5	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2472203	NM_004259.7(RECQL5):c.2755G>A (p.Val919Met)	RECQL5 (V919M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152854	NM_004259.7(RECQL5):c.2753T>C (p.Val918Ala)	RECQL5 (V918A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715821	NM_004259.7(RECQL5):c.2750A>C (p.Asn917Thr)	RECQL5 (N917T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3152853	NM_004259.7(RECQL5):c.2744C>T (p.Ala915Val)	RECQL5 (A915V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634631	NM_004259.7(RECQL5):c.2728G>A (p.Val910Ile)	RECQL5 (V910I)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 2409062	NM_004259.7(RECQL5):c.2719G>A (p.Ala907Thr)	RECQL5 (A907T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358490	NM_004259.7(RECQL5):c.2717C>G (p.Ser906Cys)	RECQL5 (S906C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530143	NM_004259.7(RECQL5):c.2716T>C (p.Ser906Pro)	RECQL5 (S906P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337075	NM_004259.7(RECQL5):c.2696C>G (p.Ala899Gly)	RECQL5 (A899G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313407	NM_004259.7(RECQL5):c.2669G>C (p.Ser890Thr)	RECQL5 (S890T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648275	NM_004259.7(RECQL5):c.2638G>A (p.Val880Ile)	RECQL5 (V880I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3039708	NM_004259.7(RECQL5):c.2637C>T (p.Val879=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GBenign
Select item 3040343	NM_004259.7(RECQL5):c.2635G>A (p.Val879Ile)	RECQL5 (V879I)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 3055107	NM_004259.7(RECQL5):c.2631C>G (p.Pro877=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 2387218	NM_004259.7(RECQL5):c.2615G>A (p.Arg872His)	RECQL5 (R872H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635639	NM_004259.7(RECQL5):c.2569C>T (p.Arg857Ter)	RECQL5 (R857*)	Single nucleotide variant (nonsense)	RECQL5-related disorder	GUncertain significance
Select item 3152851	NM_004259.7(RECQL5):c.2566C>T (p.Pro856Ser)	RECQL5 (P856S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459878	NM_004259.7(RECQL5):c.2539G>A (p.Ala847Thr)	RECQL5 (A847T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2630165	NM_004259.7(RECQL5):c.2509C>G (p.Gln837Glu)	RECQL5 (Q837E)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 2397550	NM_004259.7(RECQL5):c.2507A>T (p.Asp836Val)	RECQL5 (D836V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461300	NM_004259.7(RECQL5):c.2506G>A (p.Asp836Asn)	RECQL5 (D836N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152850	NM_004259.7(RECQL5):c.2498C>T (p.Pro833Leu)	RECQL5 (P833L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362091	NM_004259.7(RECQL5):c.2473C>T (p.Leu825Phe)	RECQL5 (L825F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714863	NM_004259.7(RECQL5):c.2444C>T (p.Ser815Leu)	RECQL5 (S815L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3152849	NM_004259.7(RECQL5):c.2440C>T (p.His814Tyr)	RECQL5 (H814Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495026	NM_004259.7(RECQL5):c.2431G>A (p.Ala811Thr)	RECQL5 (A811T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744386	NM_004259.7(RECQL5):c.2340A>G (p.Ser780=)	RECQL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633463	NM_004259.7(RECQL5):c.2328_2339delinsCCCAGAGGCAGA (p.Leu777_Ser780delinsProGluAlaGlu)	RECQL5	Indel (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 2353224	NM_004259.7(RECQL5):c.2338T>G (p.Ser780Ala)	RECQL5 (S780A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353223	NM_004259.7(RECQL5):c.2333T>A (p.Leu778Gln)	RECQL5 (L778Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048581	NM_004259.7(RECQL5):c.2330T>C (p.Leu777Pro)	RECQL5 (L777P)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GLikely benign
Select item 3351973	NM_004259.7(RECQL5):c.2328T>C (p.Ala776=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3050235	NM_004259.7(RECQL5):c.2324C>T (p.Pro775Leu)	RECQL5 (P775L)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GLikely benign
Select item 2206964	NM_004259.7(RECQL5):c.2306G>A (p.Cys769Tyr)	RECQL5 (C769Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708597	NM_004259.7(RECQL5):c.2293G>A (p.Ala765Thr)	RECQL5 (A765T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2403712	NM_004259.7(RECQL5):c.2282C>G (p.Ser761Cys)	RECQL5 (S761C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708598	NM_004259.7(RECQL5):c.2272C>T (p.His758Tyr)	RECQL5 (H758Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2233315	NM_004259.7(RECQL5):c.2260G>A (p.Ala754Thr)	RECQL5 (A754T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366733	NM_004259.7(RECQL5):c.2243A>G (p.Lys748Arg)	RECQL5 (K748R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267357	NM_004259.7(RECQL5):c.2234G>A (p.Arg745Gln)	RECQL5 (R745Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059311	NM_004259.7(RECQL5):c.2217C>T (p.Ser739=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GBenign
Select item 3349704	NM_004259.7(RECQL5):c.2213G>A (p.Gly738Asp)	RECQL5 (G738D)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 744387	NM_004259.7(RECQL5):c.2175G>A (p.Gly725=)	RECQL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2358736	NM_004259.7(RECQL5):c.2167T>A (p.Tyr723Asn)	RECQL5 (Y723N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636469	NM_004259.7(RECQL5):c.2161G>A (p.Ala721Thr)	RECQL5 (A721T)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 2513938	NM_004259.7(RECQL5):c.2086C>T (p.Arg696Trp)	RECQL5 (R696W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250813	NM_004259.7(RECQL5):c.2081C>T (p.Pro694Leu)	RECQL5 (P694L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059161	NM_004259.7(RECQL5):c.2073C>T (p.His691=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GBenign
Select item 2492083	NM_004259.7(RECQL5):c.2068G>A (p.Glu690Lys)	RECQL5 (E690K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348938	NM_004259.7(RECQL5):c.2067C>T (p.Gly689=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GUncertain significance
Select item 2672710	NM_004259.7(RECQL5):c.2060G>C (p.Arg687Pro)	RECQL5 (R687P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2634902	NM_004259.7(RECQL5):c.2060G>A (p.Arg687Gln)	RECQL5 (R687Q)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 2635965	NM_004259.7(RECQL5):c.2059C>T (p.Arg687Trp)	RECQL5 (R687W)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 3349340	NM_004259.7(RECQL5):c.2029C>T (p.Arg677Trp)	RECQL5 (R677W)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 2469464	NM_004259.7(RECQL5):c.2027C>T (p.Thr676Ile)	RECQL5 (T676I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313544	NM_004259.7(RECQL5):c.2024C>T (p.Thr675Ile)	RECQL5 (T675I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513009	NM_004259.7(RECQL5):c.2003C>T (p.Thr668Met)	RECQL5 (T668M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636849	NM_004259.7(RECQL5):c.1985G>T (p.Gly662Val)	RECQL5 (G662V)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 3152848	NM_004259.7(RECQL5):c.1960C>T (p.Arg654Trp)	RECQL5 (R654W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298194	NM_004259.7(RECQL5):c.1958A>G (p.Lys653Arg)	RECQL5 (K653R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470675	NM_004259.7(RECQL5):c.1919A>C (p.Asp640Ala)	RECQL5 (D640A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313538	NM_004259.7(RECQL5):c.1901C>T (p.Pro634Leu)	RECQL5 (P634L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672711	NM_004259.7(RECQL5):c.1883G>A (p.Ser628Asn)	RECQL5 (S628N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2292811	NM_004259.7(RECQL5):c.1870G>C (p.Ala624Pro)	RECQL5 (A624P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3348064	NM_004259.7(RECQL5):c.1819G>A (p.Asp607Asn)	RECQL5 (D607N)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 3048599	NM_004259.7(RECQL5):c.1813-10C>T	RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GBenign
Select item 2466268	NM_004259.7(RECQL5):c.1765C>T (p.Arg589Trp)	RECQL5 (R589W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594183	NM_004259.7(RECQL5):c.1741G>A (p.Val581Met)	RECQL5 (V581M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2632459	NM_004259.7(RECQL5):c.1735A>G (p.Lys579Glu)	RECQL5 (K579E)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 2406499	NM_004259.7(RECQL5):c.1730G>A (p.Arg577Gln)	RECQL5 (R577Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519050	NM_004259.7(RECQL5):c.1729C>T (p.Arg577Trp)	RECQL5 (R577W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041565	NM_004259.7(RECQL5):c.1718+8C>T	RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GBenign
Select item 2487132	NM_004259.7(RECQL5):c.1711G>A (p.Ala571Thr)	RECQL5 (A571T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 709680	NM_004259.7(RECQL5):c.1680G>A (p.Ala560=)	RECQL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631950	NM_004259.7(RECQL5):c.1649G>A (p.Arg550Gln)	RECQL5 (R550Q)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 3152847	NM_004259.7(RECQL5):c.1639G>C (p.Val547Leu)	RECQL5 (V547L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035771	NM_004259.7(RECQL5):c.1586-5CA[4]	RECQL5	Microsatellite (splice acceptor variant)	RECQL5-related disorder	GLikely benign
Select item 3056014	NM_004259.7(RECQL5):c.1586-6_1586-5dup	RECQL5	Duplication (intron variant)	RECQL5-related disorder	GBenign
Select item 3037204	NM_004259.7(RECQL5):c.1586-7_1586-5dup	RECQL5	Duplication (intron variant)	RECQL5-related disorder	GBenign
Select item 2801244	NM_004259.7(RECQL5):c.1586-5dup	RECQL5	Duplication (intron variant)	not provided	GBenign
Select item 3060535	NM_004259.7(RECQL5):c.1586-5del	RECQL5	Deletion (intron variant)	RECQL5-related disorder	GBenign
Select item 3059523	NM_004259.7(RECQL5):c.1586-6_1586-5insA	RECQL5	Insertion (intron variant)	RECQL5-related disorder	GBenign
Select item 3043293	NM_004259.7(RECQL5):c.1586-6_1586-5del	RECQL5	Deletion (intron variant)	RECQL5-related disorder	GBenign
Select item 403370	NM_004259.7(RECQL5):c.1586-6_1586-5insACA	RECQL5	Insertion (intron variant)	not specified	GBenign
Select item 3060018	NM_004259.7(RECQL5):c.1586-7_1586-6insA	RECQL5	Insertion (intron variant)	RECQL5-related disorder	GBenign
Select item 3059997	NM_004259.7(RECQL5):c.1586-7C>A	RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GBenign

<< First< Prev

Page of 2