DHX35[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 148535	GRCh38/hg38 20q11.23-12(chr20:38912733-39376861)x1	DHX35, FAM83D +12 more	Copy number loss	See cases	GLikely benign
Select item 3082249	NM_021931.4(DHX35):c.41G>A (p.Gly14Asp)	DHX35 (G14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082252	NM_021931.4(DHX35):c.96C>G (p.Asn32Lys)	DHX35 (N32K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326597	NM_021931.4(DHX35):c.106A>G (p.Thr36Ala)	DHX35 (T36A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406577	NM_021931.4(DHX35):c.136T>C (p.Ser46Pro)	DHX35 (S46P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082246	NM_021931.4(DHX35):c.164C>T (p.Pro55Leu)	DHX35 (P55L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268684	NM_021931.4(DHX35):c.199A>G (p.Ile67Val)	DHX35 (I67V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2492671	NM_021931.4(DHX35):c.303A>C (p.Arg101Ser)	DHX35 (R70S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082247	NM_021931.4(DHX35):c.307G>A (p.Val103Ile)	DHX35 (V103I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381670	NM_021931.4(DHX35):c.379G>T (p.Val127Leu)	DHX35 (V96L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536816	NM_021931.4(DHX35):c.391G>A (p.Glu131Lys)	DHX35 (E100K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082248	NM_021931.4(DHX35):c.409C>T (p.Arg137Cys)	DHX35 (R137C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267909	NM_021931.4(DHX35):c.410G>A (p.Arg137His)	DHX35 (R106H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348171	NM_021931.4(DHX35):c.440C>T (p.Thr147Met)	DHX35 (T116M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375478	NM_021931.4(DHX35):c.693T>A (p.Asp231Glu)	DHX35 (D200E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082250	NM_021931.4(DHX35):c.697T>C (p.Cys233Arg)	DHX35 (C233R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082251	NM_021931.4(DHX35):c.751C>G (p.Gln251Glu)	DHX35 (Q220E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225447	NM_021931.4(DHX35):c.787G>A (p.Glu263Lys)	DHX35 (E232K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335490	NM_021931.4(DHX35):c.918G>A (p.Met306Ile)	DHX35 (M306I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456659	NM_021931.4(DHX35):c.1102T>C (p.Tyr368His)	DHX35 (Y337H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082242	NM_021931.4(DHX35):c.1111A>G (p.Arg371Gly)	DHX35 (R340G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536815	NM_021931.4(DHX35):c.1120A>G (p.Ile374Val)	DHX35 (I343V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478036	NM_021931.4(DHX35):c.1174G>C (p.Gly392Arg)	DHX35 (G361R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082244	NM_021931.4(DHX35):c.1177C>T (p.Arg393Cys)	DHX35 (R362C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321602	NM_021931.4(DHX35):c.1178G>A (p.Arg393His)	DHX35 (R362H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262294	NM_021931.4(DHX35):c.1186C>T (p.Arg396Cys)	DHX35 (R365C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551394	NM_021931.4(DHX35):c.1193G>A (p.Arg398His)	DHX35 (R367H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591758	NM_021931.4(DHX35):c.1196C>T (p.Ser399Leu)	DHX35 (S368L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318007	NM_021931.4(DHX35):c.1210C>T (p.Arg404Cys)	DHX35 (R404C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205601	NM_021931.4(DHX35):c.1420C>T (p.Arg474Cys)	DHX35 (R443C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367067	NM_021931.4(DHX35):c.1432C>G (p.Pro478Ala)	DHX35 (P447A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082245	NM_021931.4(DHX35):c.1433C>T (p.Pro478Leu)	DHX35 (P447L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295388	NM_021931.4(DHX35):c.1481A>G (p.Lys494Arg)	DHX35 (K463R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257570	NM_021931.4(DHX35):c.1519G>A (p.Glu507Lys)	DHX35 (E476K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248267	NM_021931.4(DHX35):c.1563T>G (p.Phe521Leu)	DHX35 (F521L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349292	NM_021931.4(DHX35):c.1565T>C (p.Val522Ala)	DHX35 (V522A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328761	NM_021931.4(DHX35):c.1576A>G (p.Asn526Asp)	DHX35 (N495D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328479	NM_021931.4(DHX35):c.1808C>T (p.Pro603Leu)	DHX35 (P572L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 564625	GRCh37/hg19 20q11.23-12(chr20:37327665-37675011)x3	SLC32A1, FAM83D +3 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic

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Items: 45