DHX9[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 2552082	NM_001357.5(DHX9):c.230G>A (p.Ser77Asn)	DHX9 (S77N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 773287	NM_001357.5(DHX9):c.364+6G>T	DHX9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2331211	NM_001357.5(DHX9):c.413C>T (p.Thr138Ile)	DHX9 (T138I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617259	NM_001357.5(DHX9):c.580A>T (p.Ile194Phe)	DHX9 (I194F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1710412	NM_001357.5(DHX9):c.594T>A (p.Tyr198Ter)	DHX9 (Y198*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2663910	NM_001357.5(DHX9):c.710dup (p.Leu237fs)	DHX9 (L237fs)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease	GLikely pathogenic
Select item 773288	NM_001357.5(DHX9):c.732G>A (p.Leu244=)	DHX9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2545665	NM_001357.5(DHX9):c.817C>G (p.Pro273Ala)	DHX9 (P273A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554192	NM_001357.5(DHX9):c.1090C>T (p.Leu364Phe)	DHX9 (L364F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205875	NM_001357.5(DHX9):c.1126C>G (p.His376Asp)	DHX9 (H376D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579537	NM_001357.5(DHX9):c.1212T>A (p.Asn404Lys)	DHX9 (N404K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2505168	NM_001357.5(DHX9):c.1240G>A (p.Gly414Arg)	DHX9 (G414R)	Single nucleotide variant (missense variant +1 more)	DHX9-related disorder	GLikely pathogenic
Select item 2579535	NM_001357.5(DHX9):c.1506_1507del (p.Ile502fs)	DHX9 (I502fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2579538	NM_001357.5(DHX9):c.1557+1G>A	DHX9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2537361	NM_001357.5(DHX9):c.1809T>G (p.Asp603Glu)	DHX9 (D603E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532598	NM_001357.5(DHX9):c.1866G>T (p.Leu622Phe)	DHX9 (L622F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579541	NM_001357.5(DHX9):c.2152A>G (p.Thr718Ala)	DHX9 (T718A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579326	NM_001357.5(DHX9):c.2171A>G (p.Asp724Gly)	DHX9 (D724G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2627913	NM_001357.5(DHX9):c.2291G>A (p.Arg764Gln)	DHX9 (R764Q)	Single nucleotide variant (missense variant +1 more)	DHX9-related neurodevelopmental disorder	GLikely pathogenic
Select item 781795	NM_001357.5(DHX9):c.2625C>T (p.Tyr875=)	DHX9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 773289	NM_001357.5(DHX9):c.2709C>T (p.Ile903=)	DHX9	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2579523	NM_001357.5(DHX9):c.3076T>G (p.Ser1026Ala)	DHX9 (S1026A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579532	NM_001357.5(DHX9):c.3144+2T>C	DHX9	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2619769	NM_001357.5(DHX9):c.3228A>T (p.Gln1076His)	DHX9 (Q1076H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505473	NM_001357.5(DHX9):c.3488A>G (p.Lys1163Arg)	DHX9 (K1163R)	Single nucleotide variant (missense variant +1 more)	DHX9-related condition	GUncertain significance
Select item 2326200	NM_001357.5(DHX9):c.3596A>G (p.Tyr1199Cys)	DHX9 (Y1199C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263303	NM_001357.5(DHX9):c.3649G>A (p.Gly1217Ser)	DHX9 (G1217S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278933	NM_001357.5(DHX9):c.3653A>G (p.Tyr1218Cys)	DHX9 (Y1218C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533363	NM_001357.5(DHX9):c.3670G>A (p.Gly1224Ser)	DHX9 (G1224S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2692451	NM_001357.5(DHX9):c.3760G>T (p.Gly1254Trp)	DHX9 (G1254W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2471184	NM_001357.5(DHX9):c.3805G>A (p.Gly1269Ser)	DHX9 (G1269S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	AXDND1, CACNA1E +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 814146	GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3	RGS8, RGSL1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 624465	GRCh37/hg19 1q25.3(chr1:181863430-183148056)x1	DHX9, GLUL +9 more	Copy number loss	not provided	GUncertain significance
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	NIBAN1, NMNAT2 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 60