DHX34[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 149907	GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3	BICRA, BICRA-AS2 +45 more	Copy number gain	See cases	GLikely benign
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2314296	NM_014681.6(DHX34):c.10C>G (p.Pro4Ala)	DHX34 (P4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204427	NM_014681.6(DHX34):c.34C>T (p.Arg12Cys)	DHX34 (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056984	NM_014681.6(DHX34):c.49C>T (p.Arg17Trp)	DHX34 (R17W)	Single nucleotide variant (missense variant)	DHX34-related disorder	GBenign
Select item 3082208	NM_014681.6(DHX34):c.106C>T (p.Arg36Cys)	DHX34 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396769	NM_014681.6(DHX34):c.115T>G (p.Leu39Val)	DHX34 (L39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509069	NM_014681.6(DHX34):c.151C>T (p.Arg51Cys)	DHX34 (R51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406091	NM_014681.6(DHX34):c.196C>T (p.Arg66Cys)	DHX34 (R66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082222	NM_014681.6(DHX34):c.238G>A (p.Glu80Lys)	DHX34 (E80K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721876	NM_014681.6(DHX34):c.249T>C (p.Pro83=)	DHX34	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712250	NM_014681.6(DHX34):c.256C>T (p.Pro86Ser)	DHX34 (P86S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1341894	NM_014681.6(DHX34):c.299dup (p.Tyr100Ter)	DHX34 (Y100*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 2615126	NM_014681.6(DHX34):c.313C>T (p.Arg105Cys)	DHX34 (R105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082232	NM_014681.6(DHX34):c.314G>A (p.Arg105His)	DHX34 (R105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292176	NM_014681.6(DHX34):c.337C>T (p.Pro113Ser)	DHX34 (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082237	NM_014681.6(DHX34):c.343A>T (p.Thr115Ser)	DHX34 (T115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789121	NM_014681.6(DHX34):c.350G>A (p.Gly117Asp)	DHX34 (G117D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 728098	NM_014681.6(DHX34):c.380C>T (p.Ala127Val)	DHX34 (A127V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2398295	NM_014681.6(DHX34):c.400C>T (p.Arg134Cys)	DHX34 (R134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082238	NM_014681.6(DHX34):c.401G>T (p.Arg134Leu)	DHX34 (R134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393032	NM_014681.6(DHX34):c.401G>A (p.Arg134His)	DHX34 (R134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532051	NM_014681.6(DHX34):c.406G>T (p.Ala136Ser)	DHX34 (A136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271879	NM_014681.6(DHX34):c.416A>T (p.His139Leu)	DHX34 (H139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 691941	NM_014681.6(DHX34):c.466C>T (p.Gln156Ter)	DHX34 (Q156*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorders +6 more	GLikely pathogenic
Select item 2348400	NM_014681.6(DHX34):c.470G>A (p.Arg157His)	DHX34 (R157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244201	NM_014681.6(DHX34):c.475C>T (p.Arg159Trp)	DHX34 (R159W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492296	NM_014681.6(DHX34):c.494C>A (p.Ala165Asp)	DHX34 (A165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775417	NM_014681.6(DHX34):c.508C>T (p.Arg170Cys)	DHX34 (R170C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2394147	NM_014681.6(DHX34):c.638G>A (p.Arg213Gln)	DHX34 (R213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207023	NM_014681.6(DHX34):c.668G>A (p.Arg223His)	DHX34 (R223H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082240	NM_014681.6(DHX34):c.693G>T (p.Gln231His)	DHX34 (Q231H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617352	NM_014681.6(DHX34):c.758T>C (p.Val253Ala)	DHX34 (V253A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458335	NM_014681.6(DHX34):c.796C>T (p.Arg266Trp)	DHX34 (R266W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059175	NM_014681.6(DHX34):c.834G>A (p.Val278=)	DHX34	Single nucleotide variant (synonymous variant)	DHX34-related disorder	GBenign
Select item 2204476	NM_014681.6(DHX34):c.850C>T (p.Arg284Trp)	DHX34 (R284W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050604	NM_014681.6(DHX34):c.864C>T (p.Asn288=)	DHX34	Single nucleotide variant (synonymous variant)	DHX34-related disorder	GBenign
Select item 3056792	NM_014681.6(DHX34):c.899C>G (p.Pro300Arg)	DHX34 (P300R)	Single nucleotide variant (missense variant)	DHX34-related disorder	GBenign
Select item 3082241	NM_014681.6(DHX34):c.904C>T (p.Arg302Trp)	DHX34 (R302W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038863	NM_014681.6(DHX34):c.927C>T (p.Leu309=)	DHX34	Single nucleotide variant (synonymous variant)	DHX34-related disorder	GLikely benign
Select item 3271883	NM_014681.6(DHX34):c.929T>C (p.Met310Thr)	DHX34 (M310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271878	NM_014681.6(DHX34):c.1031C>T (p.Pro344Leu)	DHX34 (P344L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220326	NM_014681.6(DHX34):c.1055C>G (p.Ser352Cys)	DHX34 (S352C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321484	NM_014681.6(DHX34):c.1108G>T (p.Asp370Tyr)	DHX34 (D370Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039476	NM_014681.6(DHX34):c.1122G>A (p.Pro374=)	DHX34	Single nucleotide variant (synonymous variant)	DHX34-related disorder	GBenign
Select item 3271871	NM_014681.6(DHX34):c.1147G>C (p.Val383Leu)	DHX34 (V383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490290	NM_014681.6(DHX34):c.1175G>A (p.Ser392Asn)	DHX34 (S392N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383996	NM_014681.6(DHX34):c.1180G>A (p.Val394Met)	DHX34 (V394M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589436	NM_014681.6(DHX34):c.1210C>T (p.His404Tyr)	DHX34 (H404Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082209	NM_014681.6(DHX34):c.1220G>A (p.Arg407His)	DHX34 (R407H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514372	NM_014681.6(DHX34):c.1225G>A (p.Val409Met)	DHX34 (V409M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271877	NM_014681.6(DHX34):c.1243A>G (p.Ser415Gly)	DHX34 (S415G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750667	NM_014681.6(DHX34):c.1246G>A (p.Ala416Thr)	DHX34 (A416T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3082210	NM_014681.6(DHX34):c.1264C>G (p.Gln422Glu)	DHX34 (Q422E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082211	NM_014681.6(DHX34):c.1286C>T (p.Ala429Val)	DHX34 (A429V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082212	NM_014681.6(DHX34):c.1288C>T (p.Pro430Ser)	DHX34 (P430S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 691940	NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser)	DHX34 (N441S)	Single nucleotide variant (missense variant)	Microcephaly +5 more	GLikely pathogenic
Select item 3271881	NM_014681.6(DHX34):c.1354A>T (p.Ile452Phe)	DHX34 (I452F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271872	NM_014681.6(DHX34):c.1373C>T (p.Ser458Phe)	DHX34 (S458F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349076	NM_014681.6(DHX34):c.1403C>T (p.Pro468Leu)	DHX34 (P468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285865	NM_014681.6(DHX34):c.1403C>A (p.Pro468Gln)	DHX34 (P468Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239834	NM_014681.6(DHX34):c.1441A>G (p.Ser481Gly)	DHX34 (S481G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271876	NM_014681.6(DHX34):c.1453G>A (p.Ala485Thr)	DHX34 (A485T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402606	NM_014681.6(DHX34):c.1462C>T (p.Arg488Trp)	DHX34 (R488W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712251	NM_014681.6(DHX34):c.1491C>T (p.Pro497=)	DHX34	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2593419	NM_014681.6(DHX34):c.1492G>A (p.Gly498Arg)	DHX34 (G498R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257837	NM_014681.6(DHX34):c.1520C>T (p.Ser507Leu)	DHX34 (S507L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514397	NM_014681.6(DHX34):c.1540C>T (p.Pro514Ser)	DHX34 (P514S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519101	NM_014681.6(DHX34):c.1543T>C (p.Tyr515His)	DHX34 (Y515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059415	NM_014681.6(DHX34):c.1554A>G (p.Pro518=)	DHX34	Single nucleotide variant (synonymous variant)	DHX34-related disorder	GBenign
Select item 3271874	NM_014681.6(DHX34):c.1561C>T (p.Arg521Trp)	DHX34 (R521W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786355	NM_014681.6(DHX34):c.1582T>C (p.Leu528=)	DHX34	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3039035	NM_014681.6(DHX34):c.1590G>A (p.Leu530=)	DHX34	Single nucleotide variant (synonymous variant)	DHX34-related disorder	GBenign
Select item 3060131	NM_014681.6(DHX34):c.1593+9T>C	DHX34	Single nucleotide variant (intron variant)	DHX34-related disorder	GBenign
Select item 3082213	NM_014681.6(DHX34):c.1631C>T (p.Pro544Leu)	DHX34 (P544L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542662	NM_014681.6(DHX34):c.1643C>G (p.Pro548Arg)	DHX34 (P548R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082214	NM_014681.6(DHX34):c.1669G>A (p.Ala557Thr)	DHX34 (A557T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376362	NM_014681.6(DHX34):c.1672A>G (p.Ile558Val)	DHX34 (I558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082215	NM_014681.6(DHX34):c.1684C>T (p.Arg562Trp)	DHX34 (R562W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376692	NM_014681.6(DHX34):c.1742C>G (p.Ala581Gly)	DHX34 (A581G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265017	NM_014681.6(DHX34):c.1750C>T (p.Pro584Ser)	DHX34 (P584S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242287	NM_014681.6(DHX34):c.1790C>T (p.Ser597Phe)	DHX34 (S597F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532696	NM_014681.6(DHX34):c.1793T>C (p.Met598Thr)	DHX34 (M598T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082216	NM_014681.6(DHX34):c.1802T>C (p.Leu601Pro)	DHX34 (L601P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2163208	NM_014681.6(DHX34):c.1826C>G (p.Ala609Gly)	DHX34 (A609G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718689	NM_014681.6(DHX34):c.1839C>T (p.Ser613=)	DHX34	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791481	NM_014681.6(DHX34):c.1863C>T (p.Ser621=)	DHX34	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2398769	NM_014681.6(DHX34):c.1872C>A (p.Ser624Arg)	DHX34 (S624R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335688	NM_014681.6(DHX34):c.1885G>A (p.Ala629Thr)	DHX34 (A629T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338341	NM_014681.6(DHX34):c.1886C>A (p.Ala629Glu)	DHX34 (A629E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271880	NM_014681.6(DHX34):c.1897C>T (p.Arg633Trp)	DHX34 (R633W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337239	NM_014681.6(DHX34):c.1951G>A (p.Ala651Thr)	DHX34 (A651T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533617	NM_014681.6(DHX34):c.1976G>A (p.Arg659Gln)	DHX34 (R659Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210342	NM_014681.6(DHX34):c.2003G>A (p.Arg668His)	DHX34 (R668H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370061	NM_014681.6(DHX34):c.2005C>T (p.Arg669Cys)	DHX34 (R669C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553419	NM_014681.6(DHX34):c.2008C>T (p.Arg670Trp)	DHX34 (R670W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368307	NM_014681.6(DHX34):c.2038A>G (p.Met680Val)	DHX34 (M680V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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