DHX38[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 148076	GRCh38/hg38 16q22.2(chr16:72044363-72253331)x3	DHX38, HP +13 more	Copy number gain	See cases	GUncertain significance
Select item 1134805	NM_014003.4(DHX38):c.6G>A (p.Gly2=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1523400	NM_014003.4(DHX38):c.10A>T (p.Thr4Ser)	DHX38 (T4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674605	NM_014003.4(DHX38):c.27G>A (p.Ser9=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187914	NM_014003.4(DHX38):c.32A>G (p.His11Arg)	DHX38 (H11R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995674	NM_014003.4(DHX38):c.34C>G (p.Arg12Gly)	DHX38 (R12G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927749	NM_014003.4(DHX38):c.34C>T (p.Arg12Ter)	DHX38 (R12*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1578595	NM_014003.4(DHX38):c.39G>A (p.Leu13=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170732	NM_014003.4(DHX38):c.47C>G (p.Thr16Ser)	DHX38 (T16S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 858580	NM_014003.4(DHX38):c.55G>A (p.Asp19Asn)	DHX38 (D19N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2010244	NM_014003.4(DHX38):c.66_72del (p.Gly23fs)	DHX38 (G23fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1378168	NM_014003.4(DHX38):c.64G>A (p.Val22Ile)	DHX38 (V22I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3082289	NM_014003.4(DHX38):c.68G>C (p.Gly23Ala)	DHX38 (G23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1167323	NM_014003.4(DHX38):c.69T>C (p.Gly23=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign
Select item 1169701	NM_014003.4(DHX38):c.84G>A (p.Lys28=)	DHX38	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1388268	NM_014003.4(DHX38):c.89A>G (p.Lys30Arg)	DHX38 (K30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023827	NM_014003.4(DHX38):c.93T>C (p.Ser31=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1419805	NM_014003.4(DHX38):c.95C>T (p.Ala32Val)	DHX38 (A32V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1077733	NM_014003.4(DHX38):c.96G>A (p.Ala32=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 849099	NM_014003.4(DHX38):c.98C>T (p.Ala33Val)	DHX38 (A33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 942203	NM_014003.4(DHX38):c.102C>T (p.Ser34=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943646	NM_014003.4(DHX38):c.123T>C (p.Ala41=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1620204	NM_014003.4(DHX38):c.129T>C (p.Ala43=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946411	NM_014003.4(DHX38):c.133C>T (p.Arg45Cys)	DHX38 (R45C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3082278	NM_014003.4(DHX38):c.134G>A (p.Arg45His)	DHX38 (R45H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1672136	NM_014003.4(DHX38):c.135C>A (p.Arg45=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1111828	NM_014003.4(DHX38):c.141A>G (p.Ser47=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358092	NM_014003.4(DHX38):c.146T>G (p.Leu49Arg)	DHX38 (L49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1167324	NM_014003.4(DHX38):c.147C>G (p.Leu49=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GBenign
Select item 1381905	NM_014003.4(DHX38):c.148G>A (p.Gly50Arg)	DHX38 (G50R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995587	NM_014003.4(DHX38):c.153G>A (p.Leu51=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149364	NM_014003.4(DHX38):c.165T>G (p.Ala55=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929079	NM_014003.4(DHX38):c.175C>A (p.Arg59=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502919	NM_014003.4(DHX38):c.175C>T (p.Arg59Trp)	DHX38 (R59W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361640	NM_014003.4(DHX38):c.176G>T (p.Arg59Leu)	DHX38 (R59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 858774	NM_014003.4(DHX38):c.176G>A (p.Arg59Gln)	DHX38 (R59Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1099269	NM_014003.4(DHX38):c.180A>G (p.Arg60=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951294	NM_014003.4(DHX38):c.182A>C (p.Glu61Ala)	DHX38 (E61A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723848	NM_014003.4(DHX38):c.198C>T (p.Asp66=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 1447137	NM_014003.4(DHX38):c.199G>A (p.Asp67Asn)	DHX38 (D67N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1014484	NM_014003.4(DHX38):c.203G>C (p.Gly68Ala)	DHX38 (G68A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648209	NM_014003.4(DHX38):c.204G>A (p.Gly68=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3028410	NM_014003.4(DHX38):c.211AAG[2] (p.Lys73del)	DHX38 (K73del)	Microsatellite (inframe_deletion)	Retinal dystrophy	GUncertain significance
Select item 3028411	NM_014003.4(DHX38):c.213G>C (p.Lys71Asn)	DHX38 (K71N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028412	NM_014003.4(DHX38):c.217A>C (p.Lys73Gln)	DHX38 (K73Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1369469	NM_014003.4(DHX38):c.219G>T (p.Lys73Asn)	DHX38 (K73N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407078	NM_014003.4(DHX38):c.225del (p.Val76fs)	DHX38 (V76fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1971663	NM_014003.4(DHX38):c.224A>C (p.Lys75Thr)	DHX38 (K75T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415850	NM_014003.4(DHX38):c.224A>G (p.Lys75Arg)	DHX38 (K75R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485557	NM_014003.4(DHX38):c.244T>G (p.Trp82Gly)	DHX38 (W82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1477500	NM_014003.4(DHX38):c.246G>C (p.Trp82Cys)	DHX38 (W82C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1137506	NM_014003.4(DHX38):c.261T>C (p.Asp87=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1004874	NM_014003.4(DHX38):c.281A>G (p.Glu94Gly)	DHX38 (E94G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937591	NM_014003.4(DHX38):c.285G>C (p.Glu95Asp)	DHX38 (E95D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368843	NM_014003.4(DHX38):c.286G>A (p.Gly96Ser)	DHX38 (G96S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1085270	NM_014003.4(DHX38):c.288C>T (p.Gly96=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 963790	NM_014003.4(DHX38):c.289G>A (p.Gly97Ser)	DHX38 (G97S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3082284	NM_014003.4(DHX38):c.295C>A (p.Gln99Lys)	DHX38 (Q99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1021252	NM_014003.4(DHX38):c.314G>A (p.Arg105Gln)	DHX38 (R105Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970022	NM_014003.4(DHX38):c.315G>C (p.Arg105=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1362581	NM_014003.4(DHX38):c.320A>T (p.Asp107Val)	DHX38 (D107V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031779	NM_014003.4(DHX38):c.323+9C>G	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1151481	NM_014003.4(DHX38):c.323+9C>T	DHX38	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962816	NM_014003.4(DHX38):c.324-9_324-8del	DHX38	Deletion (intron variant)	not provided	GLikely benign
Select item 3028413	NM_014003.4(DHX38):c.324A>G (p.Arg108=)	DHX38	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 1917091	NM_014003.4(DHX38):c.331C>T (p.Arg111Trp)	DHX38 (R111W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855249	NM_014003.4(DHX38):c.332G>A (p.Arg111Gln)	DHX38 (R111Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927173	NM_014003.4(DHX38):c.335C>A (p.Ser112Tyr)	DHX38 (S112Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399506	NM_014003.4(DHX38):c.338C>T (p.Ala113Val)	DHX38 (A113V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1638366	NM_014003.4(DHX38):c.339T>G (p.Ala113=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 840780	NM_014003.4(DHX38):c.340C>T (p.Arg114Trp)	DHX38 (R114W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 969305	NM_014003.4(DHX38):c.341G>A (p.Arg114Gln)	DHX38 (R114Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2967714	NM_014003.4(DHX38):c.360T>C (p.His120=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1406830	NM_014003.4(DHX38):c.362C>T (p.Pro121Leu)	DHX38 (P121L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165032	NM_014003.4(DHX38):c.363G>A (p.Pro121=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1396556	NM_014003.4(DHX38):c.367G>T (p.Gly123Cys)	DHX38 (G123C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715078	NM_014003.4(DHX38):c.375C>T (p.Ser125=)	DHX38	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1433907	NM_014003.4(DHX38):c.387G>A (p.Trp129Ter)	DHX38 (W129*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1662371	NM_014003.4(DHX38):c.393C>T (p.Arg131=)	DHX38	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902403	NM_014003.4(DHX38):c.397C>T (p.Arg133Trp)	DHX38 (R133W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927490	NM_014003.4(DHX38):c.398G>A (p.Arg133Gln)	DHX38 (R133Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3028414	NM_014003.4(DHX38):c.401A>G (p.Gln134Arg)	DHX38 (Q134R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1022697	NM_014003.4(DHX38):c.402G>C (p.Gln134His)	DHX38 (Q134H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004351	NM_014003.4(DHX38):c.407A>G (p.Glu136Gly)	DHX38 (E136G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555452	NM_014003.4(DHX38):c.409C>T (p.Arg137Trp)	DHX38 (R137W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 863446	NM_014003.4(DHX38):c.415C>T (p.Arg139Trp)	DHX38 (R139W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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