"GeneDx"[submitter] AND "DHX30"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575537	NM_138615.3(DHX30):c.25A>T (p.Lys9Ter)	DHX30 (K9*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2579970	NM_138615.3(DHX30):c.258A>G (p.Lys86=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2571903	NM_138615.3(DHX30):c.451G>T (p.Asp151Tyr)	DHX30 (D112Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253548	NM_138615.3(DHX30):c.492del (p.Trp165fs)	DHX30 (W126fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1801021	NM_138615.3(DHX30):c.536G>T (p.Gly179Val)	DHX30 (G140V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505707	NM_138615.3(DHX30):c.647A>G (p.His216Arg)	DHX30 (H177R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696988	NM_138615.3(DHX30):c.677C>T (p.Ser226Phe)	DHX30 (S187F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663694	NM_138615.3(DHX30):c.808A>G (p.Thr270Ala)	DHX30 (T231A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309241	NM_138615.3(DHX30):c.854C>A (p.Pro285His)	DHX30 (P246H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706713	NM_138615.3(DHX30):c.873dup (p.Ala292fs)	DHX30 (A253fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2574280	NM_138615.3(DHX30):c.1118C>T (p.Ala373Val)	DHX30 (A334V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712200	NM_138615.3(DHX30):c.1325C>T (p.Thr442Ile)	DHX30 (T403I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698309	NM_138615.3(DHX30):c.1472C>G (p.Pro491Arg)	DHX30 (P452R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186979	NM_138615.3(DHX30):c.1504C>T (p.Arg502Trp)	DHX30 (R463W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311384	NM_138615.3(DHX30):c.1511G>C (p.Ser504Thr)	DHX30 (S465T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691787	NM_138615.3(DHX30):c.1517A>G (p.Glu506Gly)	DHX30 (E467G +2 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 3340667	NM_138615.3(DHX30):c.1613G>A (p.Gly538Asp)	DHX30 (G499D +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3343215	NM_138615.3(DHX30):c.1672G>A (p.Val558Met)	DHX30 (V519M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376056	NM_138615.3(DHX30):c.1745A>C (p.Asn582Thr)	DHX30 (N543T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806822	NM_138615.3(DHX30):c.1756C>G (p.Arg586Gly)	DHX30 (R547G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662393	NM_138615.3(DHX30):c.1772G>A (p.Ser591Asn)	DHX30 (S552N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311089	NM_138615.3(DHX30):c.1814G>T (p.Gly605Val)	DHX30 (G566V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575885	NM_138615.3(DHX30):c.1910A>G (p.His637Arg)	DHX30 (H598R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252775	NM_138615.3(DHX30):c.2026C>T (p.Pro676Ser)	DHX30 (P637S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305752	NM_138615.3(DHX30):c.2099T>G (p.Leu700Arg)	DHX30 (L661R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language +1 more	GUncertain significance
Select item 2663232	NM_138615.3(DHX30):c.2129T>C (p.Met710Thr)	DHX30 (M671T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303715	NM_138615.3(DHX30):c.2140_2141delinsGC (p.Lys714Ala)	DHX30 (K675A +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2574522	NM_138615.3(DHX30):c.2266C>T (p.Arg756Cys)	DHX30 (R717C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313926	NM_138615.3(DHX30):c.2307_2312delinsCAAGAGCCAATGTG (p.Trp770fs)	DHX30 (W731fs +2 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3364994	NM_138615.3(DHX30):c.2308T>C (p.Trp770Arg)	DHX30 (W731R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574180	NM_138615.3(DHX30):c.2314T>G (p.Ser772Ala)	DHX30 (S733A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 375373	NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp)	DHX30 (R782W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language +1 more	GPathogenic
Select item 453272	NM_138615.3(DHX30):c.2354G>A (p.Arg785His)	DHX30 (R785H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2430439	NM_138615.3(DHX30):c.2393G>A (p.Ser798Asn)	DHX30 (S759N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579793	NM_138615.3(DHX30):c.2423T>A (p.Val808Glu)	DHX30 (V769E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505764	NM_138615.3(DHX30):c.2453A>C (p.Asn818Thr)	DHX30 (N779T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308399	NM_138615.3(DHX30):c.2575+5G>A	DHX30	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3378092	NM_138615.3(DHX30):c.2680C>T (p.Arg894Cys)	DHX30 (R855C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523233	NM_138615.3(DHX30):c.2723G>A (p.Arg908Gln)	DHX30 (R869Q +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language +1 more	GConflicting classifications of pathogenicity
Select item 711804	NM_138615.3(DHX30):c.2930-4C>T	DHX30	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3252973	NM_138615.3(DHX30):c.2942A>C (p.Gln981Pro)	DHX30 (Q942P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372832	NM_138615.3(DHX30):c.2950G>C (p.Glu984Gln)	DHX30 (E945Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364376	NM_138615.3(DHX30):c.2954A>C (p.Asn985Thr)	DHX30 (N946T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313843	NM_138615.3(DHX30):c.3001G>A (p.Ala1001Thr)	DHX30 (A1001T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331316	NM_138615.3(DHX30):c.3011_3018del (p.Gln1004fs)	DHX30 (Q1004fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1314734	NM_138615.3(DHX30):c.3052G>A (p.Val1018Met)	DHX30 (V1018M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315560	NM_138615.3(DHX30):c.3064G>A (p.Gly1022Ser)	DHX30 (G1022S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253387	NM_138615.3(DHX30):c.3107C>A (p.Thr1036Asn)	DHX30 (T1008N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698228	NM_138615.3(DHX30):c.3131A>G (p.Asn1044Ser)	DHX30 (N1005S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241562	NM_138615.3(DHX30):c.3183C>T (p.Thr1061=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1712157	NM_138615.3(DHX30):c.3214C>T (p.Arg1072Ter)	DHX30 (R1033* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1308107	NM_138615.3(DHX30):c.3238G>A (p.Val1080Ile)	DHX30 (V1041I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578044	NM_138615.3(DHX30):c.3263_3266del (p.Val1088fs)	DHX30 (V1049fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1800998	NM_138615.3(DHX30):c.3262G>A (p.Val1088Ile)	DHX30 (V1049I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377941	NM_138615.3(DHX30):c.3469C>G (p.Leu1157Val)	DHX30 (L1118V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370001	NM_138615.3(DHX30):c.3513_3556del (p.Leu1171_Leu1172insTer)	DHX30	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1315183	NM_138615.3(DHX30):c.3532_3542delinsTAGT (p.Leu1178_Gly1181delinsTer)	DHX30	Indel (nonsense)	not provided	GUncertain significance
Select item 2207887	NM_138615.3(DHX30):c.3539G>A (p.Arg1180Gln)	DHX30 (R1152Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2582041	NM_138615.3(DHX30):c.3579C>A (p.Asp1193Glu)	DHX30 (D1154E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 3361604	NM_138615.3(DHX30):c.314A>G (p.Lys105Arg)	DHX30 (K105R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359539	NM_138615.3(DHX30):c.797T>C (p.Met266Thr)	DHX30 (M227T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359492	NM_138615.3(DHX30):c.28+2T>C	DHX30	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63