ClinVar for Gene (Select 9400) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358260	NM_004259.7(RECQL5):c.1229+487G>A	RECQL5 (G417R)	Single nucleotide variant (missense variant +2 more)	RECQL5-related disorder	GUncertain significance
Select item 3356104	NM_004259.7(RECQL5):c.1473C>T (p.Ser491=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3355645	NM_004259.7(RECQL5):c.1322G>A (p.Arg441Gln)	RECQL5 (R441Q)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GLikely benign
Select item 3352494	NM_004259.7(RECQL5):c.1327C>T (p.Arg443Trp)	RECQL5 (R443W)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
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 3351937	NM_004259.7(RECQL5):c.141C>T (p.Asp47=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3351093	NM_004259.7(RECQL5):c.1224A>G (p.Glu408=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3351036	NM_004259.7(RECQL5):c.1505G>A (p.Arg502Gln)	RECQL5 (R502Q)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
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 3349704	NM_004259.7(RECQL5):c.2213G>A (p.Gly738Asp)	RECQL5 (G738D)	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 3348938	NM_004259.7(RECQL5):c.2067C>T (p.Gly689=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	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 3320981	NM_001162997.2(SMIM6):c.38A>C (p.Asp13Ala)	RECQL5, SMIM6 (D13A)	Single nucleotide variant (missense variant +1 more)	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 3313543	NM_004259.7(RECQL5):c.709G>A (p.Asp237Asn)	RECQL5 (D237N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313542	NM_004259.7(RECQL5):c.608T>A (p.Val203Glu)	RECQL5 (V203E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313541	NM_004259.7(RECQL5):c.1441T>A (p.Phe481Ile)	RECQL5 (F481I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313540	NM_004259.7(RECQL5):c.1504C>T (p.Arg502Trp)	RECQL5 (R502W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313539	NM_004259.7(RECQL5):c.124G>A (p.Val42Ile)	LOC126862642, RECQL5 (V42I)	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 3313537	NM_004259.7(RECQL5):c.1045C>T (p.Arg349Trp)	RECQL5 (R349W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313535	NM_004259.7(RECQL5):c.1565T>C (p.Ile522Thr)	RECQL5 (I522T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152858	NM_004259.7(RECQL5):c.820C>G (p.Gln274Glu)	RECQL5 (Q274E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152857	NM_004259.7(RECQL5):c.478C>T (p.His160Tyr)	RECQL5 (H160Y)	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 3152854	NM_004259.7(RECQL5):c.2753T>C (p.Val918Ala)	RECQL5 (V918A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3152852	NM_004259.7(RECQL5):c.25C>T (p.Pro9Ser)	LOC126862642, RECQL5 (P9S)	Single nucleotide variant (missense variant)	not specified	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 3152850	NM_004259.7(RECQL5):c.2498C>T (p.Pro833Leu)	RECQL5 (P833L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3152848	NM_004259.7(RECQL5):c.1960C>T (p.Arg654Trp)	RECQL5 (R654W)	Single nucleotide variant (missense variant)	not specified	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 3152846	NM_004259.7(RECQL5):c.1087T>G (p.Tyr363Asp)	RECQL5 (Y363D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152845	NM_004259.7(RECQL5):c.1013A>G (p.Lys338Arg)	RECQL5 (K338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061661	NM_004259.7(RECQL5):c.130+5C>A	LOC126862642, RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GLikely benign
Select item 3060535	NM_004259.7(RECQL5):c.1586-5del	RECQL5	Deletion (intron variant)	RECQL5-related disorder	GBenign
Select item 3060025	NM_004259.7(RECQL5):c.1459G>A (p.Gly487Ser)	RECQL5 (G487S)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GLikely benign
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
Select item 3059523	NM_004259.7(RECQL5):c.1586-6_1586-5insA	RECQL5	Insertion (intron variant)	RECQL5-related disorder	GBenign
Select item 3059311	NM_004259.7(RECQL5):c.2217C>T (p.Ser739=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GBenign
Select item 3059161	NM_004259.7(RECQL5):c.2073C>T (p.His691=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GBenign
Select item 3057156	NM_004259.7(RECQL5):c.1586-8_1586-7insG	RECQL5	Insertion (intron variant)	RECQL5-related disorder	GBenign
Select item 3056014	NM_004259.7(RECQL5):c.1586-6_1586-5dup	RECQL5	Duplication (intron variant)	RECQL5-related disorder	GBenign
Select item 3055986	NM_004259.7(RECQL5):c.1229+486C>T	RECQL5	Single nucleotide variant (synonymous variant +2 more)	RECQL5-related disorder	GBenign
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 3054935	NM_004259.7(RECQL5):c.1281C>T (p.Cys427=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
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 3052232	NM_004259.7(RECQL5):c.986+7T>G	RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GLikely benign
Select item 3052206	NM_004259.7(RECQL5):c.590C>A (p.Pro197Gln)	RECQL5 (P197Q)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 3051381	NM_004259.7(RECQL5):c.726G>T (p.Leu242=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3051248	NM_004259.7(RECQL5):c.1455C>T (p.Asp485=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
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 3051174	NM_004259.7(RECQL5):c.1328G>A (p.Arg443Gln)	RECQL5 (R443Q)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GLikely benign
Select item 3050523	NM_004259.7(RECQL5):c.1229+537G>A	RECQL5	Single nucleotide variant (synonymous variant +2 more)	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 3048599	NM_004259.7(RECQL5):c.1813-10C>T	RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GBenign
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 3047677	NM_004259.7(RECQL5):c.1586-10C>A	RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GLikely benign
Select item 3047467	NM_004259.7(RECQL5):c.1317C>T (p.Ala439=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3046686	NM_004259.7(RECQL5):c.1056G>A (p.Arg352=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3046556	NM_004259.7(RECQL5):c.649A>G (p.Lys217Glu)	RECQL5 (K217E)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 3046076	NM_004259.7(RECQL5):c.1150-7T>C	RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GLikely benign
Select item 3044901	NM_004259.7(RECQL5):c.190C>G (p.Leu64Val)	RECQL5 (L64V)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GBenign
Select item 3044777	NM_004259.7(RECQL5):c.1229+549G>T	RECQL5	Single nucleotide variant (3 prime UTR variant +1 more)	RECQL5-related disorder	GLikely benign
Select item 3043800	NM_004259.7(RECQL5):c.1586-8C>A	RECQL5	Single nucleotide variant (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 3042513	NM_004259.7(RECQL5):c.903G>A (p.Val301=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3041565	NM_004259.7(RECQL5):c.1718+8C>T	RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GBenign
Select item 3041303	NM_004259.7(RECQL5):c.1586-8_1586-7insAA	RECQL5	Insertion (intron variant)	RECQL5-related disorder	GLikely benign
Select item 3041166	NM_004259.7(RECQL5):c.1586-9C>A	RECQL5	Single nucleotide variant (intron variant)	RECQL5-related disorder	GBenign
Select item 3040622	NM_004259.7(RECQL5):c.1536G>A (p.Met512Ile)	RECQL5 (M512I)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
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 3039708	NM_004259.7(RECQL5):c.2637C>T (p.Val879=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GBenign
Select item 3039493	NM_004259.7(RECQL5):c.357A>G (p.Glu119=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3039443	NM_004259.7(RECQL5):c.1545C>T (p.Arg515=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3038928	NM_004259.7(RECQL5):c.1229+528C>T	RECQL5	Single nucleotide variant (synonymous variant +2 more)	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 3036767	NM_004259.7(RECQL5):c.2931C>T (p.Cys977=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3036465	NM_004259.7(RECQL5):c.1529_1534del (p.Lys510_Gln511del)	RECQL5	Deletion	RECQL5-related disorder	GLikely benign
Select item 3035771	NM_004259.7(RECQL5):c.1586-5CA[4]	RECQL5	Microsatellite (splice acceptor 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 3031133	NM_004259.7(RECQL5):c.1434C>T (p.Tyr478=)	RECQL5	Single nucleotide variant (synonymous variant)	RECQL5-related disorder	GLikely benign
Select item 3029743	NM_004259.7(RECQL5):c.1229+537G>T	RECQL5	Single nucleotide variant (synonymous variant +2 more)	RECQL5-related disorder	GLikely benign
Select item 2801244	NM_004259.7(RECQL5):c.1586-5dup	RECQL5	Duplication (intron variant)	not provided	GBenign
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	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 2672710	NM_004259.7(RECQL5):c.2060G>C (p.Arg687Pro)	RECQL5 (R687P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2648277	NM_004259.7(RECQL5):c.259G>A (p.Val87Met)	RECQL5 (V87M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648276	NM_004259.7(RECQL5):c.1425C>T (p.Arg475=)	RECQL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2636849	NM_004259.7(RECQL5):c.1985G>T (p.Gly662Val)	RECQL5 (G662V)	Single nucleotide variant (missense variant)	RECQL5-related disorder	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 2635965	NM_004259.7(RECQL5):c.2059C>T (p.Arg687Trp)	RECQL5 (R687W)	Single nucleotide variant (missense variant)	RECQL5-related disorder	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 2634902	NM_004259.7(RECQL5):c.2060G>A (p.Arg687Gln)	RECQL5 (R687Q)	Single nucleotide variant (missense variant)	RECQL5-related disorder	GUncertain significance
Select item 2634867	NM_004259.7(RECQL5):c.1520T>C (p.Phe507Ser)	RECQL5 (F507S)	Single nucleotide variant (missense variant)	RECQL5-related disorder	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

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