DDX60[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993418, LOC129993419 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC126807277, LOC126807278 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	AADAT, ACSL1 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	AADAT, ACSL1 +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC441052, LRP2BP +455 more	Copy number loss	See cases	GPathogenic
Select item 155164	GRCh38/hg38 4q32.3-33(chr4:167469096-170889588)x3	AADAT, ANXA10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	SAP30-DT, SCRG1 +451 more	Copy number gain	See cases	GPathogenic
Select item 155558	GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3	AADAT, ANXA10 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 3081199	NM_017631.6(DDX60):c.5084T>C (p.Val1695Ala)	DDX60 (V1695A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3081198	NM_017631.6(DDX60):c.4936T>C (p.Tyr1646His)	DDX60 (Y1646H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299131	NM_017631.6(DDX60):c.4867G>A (p.Val1623Met)	DDX60 (V1623M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784490	NM_017631.6(DDX60):c.4850A>G (p.Asn1617Ser)	DDX60 (N1617S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2471475	NM_017631.6(DDX60):c.4802T>C (p.Leu1601Pro)	DDX60 (L1601P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399000	NM_017631.6(DDX60):c.4622G>A (p.Arg1541Gln)	DDX60 (R1541Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272047	NM_017631.6(DDX60):c.4415C>T (p.Ser1472Leu)	DDX60 (S1472L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508820	NM_017631.6(DDX60):c.4328A>G (p.His1443Arg)	DDX60 (H1443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780511	NM_017631.6(DDX60):c.4270-9G>C	DDX60	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2279375	NM_017631.6(DDX60):c.4145C>T (p.Pro1382Leu)	DDX60 (P1382L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490375	NM_017631.6(DDX60):c.4112G>A (p.Arg1371Gln)	DDX60 (R1371Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330036	NM_017631.6(DDX60):c.4093A>G (p.Ser1365Gly)	DDX60 (S1365G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302384	NM_017631.6(DDX60):c.4009G>A (p.Val1337Ile)	DDX60 (V1337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081197	NM_017631.6(DDX60):c.3796A>T (p.Ser1266Cys)	DDX60 (S1266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478816	NM_017631.6(DDX60):c.3650A>G (p.Asn1217Ser)	DDX60 (N1217S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271540	NM_017631.6(DDX60):c.3589G>A (p.Val1197Met)	DDX60 (V1197M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081196	NM_017631.6(DDX60):c.3581C>A (p.Thr1194Asn)	DDX60 (T1194N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2623193	NM_017631.6(DDX60):c.3544A>C (p.Lys1182Gln)	DDX60 (K1182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306415	NM_017631.6(DDX60):c.3511A>G (p.Asn1171Asp)	DDX60 (N1171D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269466	NM_017631.6(DDX60):c.3487G>A (p.Asp1163Asn)	DDX60 (D1163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081195	NM_017631.6(DDX60):c.3475C>T (p.Pro1159Ser)	DDX60 (P1159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329306	NM_017631.6(DDX60):c.3424G>A (p.Ala1142Thr)	DDX60 (A1142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081194	NM_017631.6(DDX60):c.3311A>G (p.Asp1104Gly)	DDX60 (D1104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375263	NM_017631.6(DDX60):c.3184T>G (p.Leu1062Val)	DDX60 (L1062V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327211	NM_017631.6(DDX60):c.3058C>T (p.Pro1020Ser)	DDX60 (P1020S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302343	NM_017631.6(DDX60):c.2977A>G (p.Ile993Val)	DDX60 (I993V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2255747	NM_017631.6(DDX60):c.2897T>G (p.Leu966Trp)	DDX60 (L966W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081193	NM_017631.6(DDX60):c.2684G>A (p.Gly895Asp)	DDX60 (G895D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326528	NM_017631.6(DDX60):c.2347A>T (p.Ile783Phe)	DDX60 (I783F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655174	NM_017631.6(DDX60):c.2292C>T (p.Pro764=)	DDX60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616218	NM_017631.6(DDX60):c.2263C>T (p.Pro755Ser)	DDX60 (P755S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655175	NM_017631.6(DDX60):c.2191G>A (p.Val731Ile)	DDX60 (V731I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2400435	NM_017631.6(DDX60):c.2101T>C (p.Tyr701His)	DDX60 (Y701H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378300	NM_017631.6(DDX60):c.2075G>A (p.Arg692Gln)	DDX60 (R692Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2507684	NM_017631.6(DDX60):c.2074C>T (p.Arg692Trp)	DDX60 (R692W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081192	NM_017631.6(DDX60):c.2033C>G (p.Ser678Cys)	DDX60 (S678C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081190	NM_017631.6(DDX60):c.1988C>T (p.Thr663Met)	DDX60 (T663M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219317	NM_017631.6(DDX60):c.1913A>G (p.Gln638Arg)	DDX60 (Q638R)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2548178	NM_017631.6(DDX60):c.1687A>C (p.Lys563Gln)	DDX60 (K563Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081189	NM_017631.6(DDX60):c.1678A>G (p.Lys560Glu)	DDX60 (K560E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081188	NM_017631.6(DDX60):c.1675A>G (p.Ile559Val)	DDX60 (I559V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339716	NM_017631.6(DDX60):c.1666A>C (p.Thr556Pro)	DDX60 (T556P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486682	NM_017631.6(DDX60):c.1649C>T (p.Ser550Phe)	DDX60 (S550F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081187	NM_017631.6(DDX60):c.1604A>G (p.Tyr535Cys)	DDX60 (Y535C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339472	NM_017631.6(DDX60):c.1571G>C (p.Arg524Thr)	DDX60 (R524T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373761	NM_017631.6(DDX60):c.1502A>G (p.His501Arg)	DDX60 (H501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204720	NM_017631.6(DDX60):c.1419T>G (p.Ile473Met)	DDX60 (I473M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209174	NM_017631.6(DDX60):c.1396G>A (p.Val466Ile)	DDX60 (V466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333159	NM_017631.6(DDX60):c.1279C>T (p.Pro427Ser)	DDX60 (P427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398079	NM_017631.6(DDX60):c.1189C>G (p.His397Asp)	DDX60 (H397D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081202	NM_017631.6(DDX60):c.997A>G (p.Ile333Val)	DDX60 (I333V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081201	NM_017631.6(DDX60):c.896G>A (p.Cys299Tyr)	DDX60 (C299Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490550	NM_017631.6(DDX60):c.832T>G (p.Phe278Val)	DDX60 (F278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655176	NM_017631.6(DDX60):c.831C>G (p.Arg277=)	DDX60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2510681	NM_017631.6(DDX60):c.830G>A (p.Arg277His)	DDX60 (R277H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358758	NM_017631.6(DDX60):c.730A>C (p.Lys244Gln)	DDX60 (K244Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289309	NM_017631.6(DDX60):c.712A>G (p.Ile238Val)	DDX60 (I238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315928	NM_017631.6(DDX60):c.643C>T (p.Leu215Phe)	DDX60 (L215F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081200	NM_017631.6(DDX60):c.592A>G (p.Ile198Val)	DDX60 (I198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618142	NM_017631.6(DDX60):c.454G>A (p.Asp152Asn)	DDX60 (D152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267013	NM_017631.6(DDX60):c.359G>C (p.Arg120Pro)	DDX60 (R120P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720104	NM_017631.6(DDX60):c.349A>G (p.Ile117Val)	DDX60 (I117V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2614053	NM_017631.6(DDX60):c.209G>A (p.Arg70His)	DDX60 (R70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081191	NM_017631.6(DDX60):c.202G>T (p.Val68Phe)	DDX60 (V68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062774	GRCh37/hg19 4q32.3(chr4:169050575-169393595)x1	ANXA10, DDX60 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	AADAT, ACSL1 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	AADAT, ACSL1 +93 more	Copy number loss	See cases	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1340377	GRCh37/hg19 4q32.3(chr4:168490955-169280301)x3	ANXA10, DDX60 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
Select item 983279	GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1	CLDN22, GLRA3 +35 more	Copy number loss	See cases	GPathogenic
Select item 814628	GRCh37/hg19 4q32.3(chr4:169061120-169154822)x1	DDX60, ANXA10	Copy number loss	not provided	GUncertain significance
Select item 814627	GRCh37/hg19 4q32.3(chr4:168430007-169444017)x1	DDX60L, DDX60 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	AADAT, ACSL1 +79 more	Copy number loss	not provided	GPathogenic

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