ClinVar for Gene (Select 79912) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244382	NC_000012.11:g.(?_21620458)_(21636518_?)dup	PYROXD1, RECQL	Duplication	not provided	GUncertain significance
Select item 3222960	NM_002907.4(RECQL):c.1907C>T (p.Ser636Phe)	PYROXD1, RECQL (S636F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222959	NM_002907.4(RECQL):c.1892T>A (p.Leu631His)	PYROXD1, RECQL (L631H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222958	NM_002907.4(RECQL):c.1857T>A (p.Asn619Lys)	PYROXD1, RECQL (N619K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222957	NM_002907.4(RECQL):c.1817G>A (p.Cys606Tyr)	PYROXD1, RECQL (C606Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222956	NM_002907.4(RECQL):c.1798-5_1807del	PYROXD1, RECQL	Deletion (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3222954	NM_002907.4(RECQL):c.1784A>G (p.Gln595Arg)	PYROXD1, RECQL (Q595R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222953	NM_002907.4(RECQL):c.1773A>G (p.Thr591=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3222952	NM_002907.4(RECQL):c.1761T>C (p.Thr587=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3222951	NM_002907.4(RECQL):c.1734del (p.Leu578_Leu579insTer)	PYROXD1, RECQL	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3222950	NM_002907.4(RECQL):c.1729A>T (p.Asn577Tyr)	PYROXD1, RECQL (N577Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222949	NM_002907.4(RECQL):c.1724_1726dup (p.Lys575_Ala576insGlu)	PYROXD1, RECQL	Duplication (inframe_insertion +1 more)	not specified	GUncertain significance
Select item 3222948	NM_002907.4(RECQL):c.1714A>G (p.Ile572Val)	PYROXD1, RECQL (I572V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3222947	NM_002907.4(RECQL):c.1695_1697del (p.Thr566del)	PYROXD1, RECQL (T566del)	Deletion (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 3222946	NM_002907.4(RECQL):c.1685C>T (p.Thr562Ile)	PYROXD1, RECQL (T562I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150242	NM_024854.5(PYROXD1):c.320A>T (p.Tyr107Phe)	PYROXD1 (Y36F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063269	GRCh37/hg19 12p12.1(chr12:21519406-21623649)x1	IAPP, PYROXD1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3062079	NM_024854.5(PYROXD1):c.750+5C>A	PYROXD1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 8	GUncertain significance
Select item 3023468	NM_002907.4(RECQL):c.1798-5_1798-4insTTG	PYROXD1, RECQL	Insertion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3010334	NM_024854.5(PYROXD1):c.994-5T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003091	NM_024854.5(PYROXD1):c.101C>T (p.Pro34Leu)	PYROXD1 (P34L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3003069	NM_024854.5(PYROXD1):c.488+9A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996584	NM_024854.5(PYROXD1):c.390A>G (p.Gly130=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987350	NM_024854.5(PYROXD1):c.881-8del	PYROXD1	Deletion (intron variant)	not provided	GBenign
Select item 2909673	NM_024854.5(PYROXD1):c.372A>G (p.Gly124=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902858	NM_002907.4(RECQL):c.1797+11A>T	PYROXD1, RECQL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2890029	NM_024854.5(PYROXD1):c.1068C>G (p.Ala356=)	PYROXD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888992	NM_024854.5(PYROXD1):c.1290A>G (p.Leu430=)	PYROXD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880801	NM_024854.5(PYROXD1):c.736_739del (p.Lys246fs)	PYROXD1 (K175fs +1 more)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2879971	NM_002907.4(RECQL):c.1792T>C (p.Phe598Leu)	PYROXD1, RECQL (F598L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869785	NM_024854.5(PYROXD1):c.816T>C (p.Phe272=)	PYROXD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862323	NM_024854.5(PYROXD1):c.414+14G>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842478	NM_024854.5(PYROXD1):c.286-20A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841147	NM_024854.5(PYROXD1):c.649+18C>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830625	NM_024854.5(PYROXD1):c.285+12G>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805653	NM_024854.5(PYROXD1):c.1168_1169del (p.Met390fs)	PYROXD1 (M131fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2804827	NM_024854.5(PYROXD1):c.199G>T (p.Glu67Ter)	PYROXD1 (E67*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2800043	NM_024854.5(PYROXD1):c.85-20TC[2]	PYROXD1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2799050	NM_024854.5(PYROXD1):c.102A>G (p.Pro34=)	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2794865	NM_024854.5(PYROXD1):c.649+1_649+2del	PYROXD1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 2791934	NM_024854.5(PYROXD1):c.212C>T (p.Thr71Ile)	PYROXD1 (T71I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2784432	NM_024854.5(PYROXD1):c.99T>C (p.Phe33=)	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2784139	NM_024854.5(PYROXD1):c.690T>C (p.Asn230=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2779909	NM_024854.5(PYROXD1):c.981C>G (p.Leu327=)	PYROXD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779886	NM_024854.5(PYROXD1):c.166-6A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777094	NM_024854.5(PYROXD1):c.12G>A (p.Ala4=)	LOC130007527, PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2766974	NM_024854.5(PYROXD1):c.1194dup (p.Ile399fs)	PYROXD1 (I399fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2763470	NM_024854.5(PYROXD1):c.165+9C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758425	NM_024854.5(PYROXD1):c.750+10C>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728337	NM_002907.4(RECQL):c.1827A>C (p.Glu609Asp)	PYROXD1, RECQL (E609D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2712227	NM_024854.5(PYROXD1):c.240T>C (p.Ile80=)	PYROXD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2710098	NM_002907.4(RECQL):c.1916C>A (p.Thr639Lys)	PYROXD1, RECQL (T639K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2700716	NM_024854.5(PYROXD1):c.84+11G>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694972	NM_024854.5(PYROXD1):c.285+17C>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2683187	NM_024854.5(PYROXD1):c.856C>T (p.His286Tyr)	PYROXD1 (H215Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2624703	NM_002907.4(RECQL):c.1837A>G (p.Lys613Glu)	PYROXD1, RECQL (K613E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593162	NM_002907.4(RECQL):c.1677_1678del (p.Tyr559_Ser560delinsTer)	PYROXD1, RECQL	Deletion (nonsense +1 more)	not specified	GUncertain significance
Select item 2586021	NM_002907.4(RECQL):c.1747G>T (p.Ala583Ser)	PYROXD1, RECQL (A583S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2586011	NM_002907.4(RECQL):c.1918G>A (p.Gly640Arg)	PYROXD1, RECQL (G640R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2586001	NM_002907.4(RECQL):c.1668A>C (p.Lys556Asn)	PYROXD1, RECQL (K556N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2585998	NM_002907.4(RECQL):c.1922C>G (p.Ala641Gly)	PYROXD1, RECQL (A641G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2585990	NM_002907.4(RECQL):c.1708T>C (p.Leu570=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2574704	NM_024854.5(PYROXD1):c.740G>A (p.Gly247Glu)	PYROXD1 (G176E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2565590	NM_002907.4(RECQL):c.1676A>C (p.Tyr559Ser)	PYROXD1, RECQL (Y559S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565581	NM_002907.4(RECQL):c.1742A>T (p.Asn581Ile)	PYROXD1, RECQL (N581I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565569	NM_002907.4(RECQL):c.1758T>G (p.Ile586Met)	PYROXD1, RECQL (I586M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562122	NM_002907.4(RECQL):c.1770G>T (p.Val590=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2560860	NM_002907.4(RECQL):c.1771A>C (p.Thr591Pro)	PYROXD1, RECQL (T591P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552008	NM_024854.5(PYROXD1):c.193G>A (p.Val65Ile)	PYROXD1 (V65I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526087	NM_024854.5(PYROXD1):c.598G>A (p.Glu200Lys)	PYROXD1 (E200K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498275	NM_024854.5(PYROXD1):c.334_337del (p.Leu112fs)	PYROXD1 (L112fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2498274	NM_024854.5(PYROXD1):c.1061A>G (p.Tyr354Cys)	PYROXD1 (Y283C +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 8	GPathogenic
Select item 2481608	NM_024854.5(PYROXD1):c.1119G>A (p.Met373Ile)	PYROXD1 (M302I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463572	NM_002907.4(RECQL):c.1857T>C (p.Asn619=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2450992	NM_002907.4(RECQL):c.1773A>C (p.Thr591=)	PYROXD1, RECQL	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2450987	NM_002907.4(RECQL):c.1885_1889del (p.Asn629fs)	PYROXD1, RECQL (N629fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 2450982	NM_002907.4(RECQL):c.1715T>C (p.Ile572Thr)	PYROXD1, RECQL (I572T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2450977	NM_002907.4(RECQL):c.1741A>T (p.Asn581Tyr)	PYROXD1, RECQL (N581Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2450971	NM_002907.4(RECQL):c.1717G>A (p.Gly573Arg)	PYROXD1, RECQL (G573R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446913	NM_002907.4(RECQL):c.1819C>T (p.His607Tyr)	PYROXD1, RECQL (H607Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446910	NM_002907.4(RECQL):c.1760C>A (p.Thr587Asn)	PYROXD1, RECQL (T587N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2426895	NC_000012.11:g.(?_21590665)_(21621688_?)dup	PYROXD1	Duplication	not provided	GUncertain significance
Select item 2424570	NC_000012.11:g.(?_21623128)_(21652504_?)dup	PYROXD1, RECQL	Duplication	not provided	GUncertain significance
Select item 2423437	NC_000012.11:g.(?_20522219)_(22089608_?)dup	ABCC9, GOLT1B +13 more	Duplication	not provided	GUncertain significance
Select item 2419718	NM_002907.4(RECQL):c.1798-4dup	PYROXD1, RECQL	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2416219	NM_024854.5(PYROXD1):c.649+3A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2414117	NM_024854.5(PYROXD1):c.990C>T (p.Asn330=)	PYROXD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412042	NM_024854.5(PYROXD1):c.159C>G (p.Phe53Leu)	PYROXD1 (F53L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372246	NM_024854.5(PYROXD1):c.727T>G (p.Leu243Val)	PYROXD1 (L172V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2331159	NM_024854.5(PYROXD1):c.640A>G (p.Thr214Ala)	PYROXD1 (T143A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326474	NM_024854.5(PYROXD1):c.19C>T (p.Pro7Ser)	LOC130007527, PYROXD1 (P7S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315784	NM_002907.4(RECQL):c.1882G>A (p.Ala628Thr)	PYROXD1, RECQL (A628T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307901	NM_024854.5(PYROXD1):c.19C>A (p.Pro7Thr)	LOC130007527, PYROXD1 (P7T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300048	NM_024854.5(PYROXD1):c.901G>C (p.Glu301Gln)	PYROXD1 (E42Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274701	NM_024854.5(PYROXD1):c.1238A>C (p.Lys413Thr)	PYROXD1 (K154T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248183	NM_024854.5(PYROXD1):c.1196T>A (p.Ile399Asn)	PYROXD1 (I399N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230040	NM_024854.5(PYROXD1):c.1034A>G (p.His345Arg)	PYROXD1 (H345R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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