ClinVar for Gene (Select 22907) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3370001	NM_138615.3(DHX30):c.3513_3556del (p.Leu1171_Leu1172insTer)	DHX30	Deletion (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 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 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
Select item 3352776	NM_138615.3(DHX30):c.1278G>A (p.Pro426=)	DHX30	Single nucleotide variant (synonymous variant)	DHX30-related disorder	GLikely benign
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 3340667	NM_138615.3(DHX30):c.1613G>A (p.Gly538Asp)	DHX30 (G499D +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3338619	NM_138615.3(DHX30):c.2291C>T (p.Ser764Phe)	DHX30 (S725F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337024	NM_138615.3(DHX30):c.256-3C>T	DHX30	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3336173	NM_138615.3(DHX30):c.3499G>C (p.Glu1167Gln)	DHX30 (E1128Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271862	NM_138615.3(DHX30):c.3329G>A (p.Arg1110His)	DHX30 (R1071H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271861	NM_138615.3(DHX30):c.479T>C (p.Met160Thr)	DHX30 (M132T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271860	NM_138615.3(DHX30):c.3548G>C (p.Cys1183Ser)	DHX30 (C1155S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3271859	NM_138615.3(DHX30):c.1231G>A (p.Val411Ile)	DHX30 (V372I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3257159	NM_138615.3(DHX30):c.288C>T (p.Ser96=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254749	NM_138615.3(DHX30):c.1397G>C (p.Arg466Pro)	DHX30 (R427P +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	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 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 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 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 3233803	NM_138615.3(DHX30):c.3088-19T>G	DHX30	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3082185	NM_138615.3(DHX30):c.3439C>T (p.Arg1147Cys)	DHX30 (R1108C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3082184	NM_138615.3(DHX30):c.3427C>T (p.Arg1143Trp)	DHX30 (R1104W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3082183	NM_138615.3(DHX30):c.1805A>T (p.Tyr602Phe)	DHX30 (Y563F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3082182	NM_138615.3(DHX30):c.1580C>T (p.Ser527Phe)	DHX30 (S527F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3082181	NM_138615.3(DHX30):c.1448G>A (p.Arg483His)	DHX30 (R455H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3068481	NM_138615.3(DHX30):c.2626C>T (p.His876Tyr)	DHX30 (H837Y +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GLikely benign
Select item 3067857	NM_138615.3(DHX30):c.630G>A (p.Met210Ile)	DHX30 (M171I +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 3064454	NM_138615.3(DHX30):c.2597A>T (p.Tyr866Phe)	DHX30 (Y827F +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 3062731	GRCh37/hg19 3p21.31(chr3:47405305-47880799)x3	CSPG5, DHX30 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3058655	NM_138615.3(DHX30):c.2706C>T (p.Val902=)	DHX30	Single nucleotide variant (synonymous variant)	DHX30-related disorder	GLikely benign
Select item 3058122	NM_138615.3(DHX30):c.2142G>A (p.Lys714=)	DHX30	Single nucleotide variant (synonymous variant)	DHX30-related disorder	GLikely benign
Select item 3057335	NM_138615.3(DHX30):c.2895C>T (p.Asn965=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3055963	NM_138615.3(DHX30):c.2085C>T (p.His695=)	DHX30	Single nucleotide variant (synonymous variant)	DHX30-related disorder	GLikely benign
Select item 3051655	NM_138615.3(DHX30):c.2232G>C (p.Val744=)	DHX30	Single nucleotide variant (synonymous variant)	DHX30-related disorder	GLikely benign
Select item 3050368	NM_138615.3(DHX30):c.1821C>T (p.Pro607=)	DHX30	Single nucleotide variant (synonymous variant)	DHX30-related disorder	GLikely benign
Select item 3047893	NM_138615.3(DHX30):c.2682T>C (p.Arg894=)	DHX30	Single nucleotide variant (synonymous variant)	DHX30-related disorder	GLikely benign
Select item 3045381	NM_138615.3(DHX30):c.2997C>T (p.Thr999=)	DHX30	Single nucleotide variant (synonymous variant)	DHX30-related disorder	GLikely benign
Select item 3038743	NM_138615.3(DHX30):c.517A>G (p.Ile173Val)	DHX30 (I134V +2 more)	Single nucleotide variant (missense variant)	DHX30-related disorder	GBenign
Select item 3037140	NM_138615.3(DHX30):c.2637C>T (p.Thr879=)	DHX30	Single nucleotide variant (synonymous variant)	DHX30-related disorder	GLikely benign
Select item 3027074	NM_138615.3(DHX30):c.2770-7C>T	DHX30	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3027009	NM_138615.3(DHX30):c.3380G>T (p.Arg1127Leu)	DHX30 (R1088L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026806	NM_138615.3(DHX30):c.2707G>A (p.Val903Ile)	DHX30 (V864I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026790	NM_138615.3(DHX30):c.3564G>A (p.Val1188=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025534	NM_138615.3(DHX30):c.1593C>T (p.Ala531=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025014	NM_138615.3(DHX30):c.2859G>A (p.Gln953=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024676	NM_138615.3(DHX30):c.3505G>A (p.Gly1169Arg)	DHX30 (G1130R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2834350	NM_138615.3(DHX30):c.1510A>G (p.Ser504Gly)	DHX30 (S465G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685917	GRCh37/hg19 3p21.31(chr3:47720958-48490193)x3	ATRIP, CAMP +11 more	Copy number gain	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 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 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 2653783	NM_138615.3(DHX30):c.3519G>A (p.Ala1173=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653782	NM_138615.3(DHX30):c.3298C>T (p.Leu1100=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653781	NM_138615.3(DHX30):c.3192-3T>C	DHX30, MIR1226	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2653780	NM_138615.3(DHX30):c.3088-4G>A	DHX30	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653779	NM_138615.3(DHX30):c.3075C>A (p.Pro1025=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653778	NM_138615.3(DHX30):c.2814C>T (p.Ala938=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653777	NM_138615.3(DHX30):c.2331C>T (p.Ile777=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653776	NM_138615.3(DHX30):c.1995C>A (p.Arg665=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653775	NM_138615.3(DHX30):c.1986C>T (p.Ile662=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653774	NM_138615.3(DHX30):c.1945G>A (p.Ala649Thr)	DHX30 (A610T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653773	NM_138615.3(DHX30):c.1292C>T (p.Ala431Val)	DHX30 (A392V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653772	NM_138615.3(DHX30):c.1129C>T (p.Arg377Trp)	DHX30 (R338W +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653771	NM_138615.3(DHX30):c.912G>A (p.Ala304=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653770	NM_138615.3(DHX30):c.668+5A>G	DHX30	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2653769	NM_138615.3(DHX30):c.633C>T (p.Thr211=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653768	NM_138615.3(DHX30):c.450C>T (p.Ala150=)	DHX30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653767	NM_138615.3(DHX30):c.75C>G (p.Arg25=)	DHX30	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2637812	NM_138615.3(DHX30):c.441_442delinsGA (p.Ser148Thr)	DHX30 (S109T +2 more)	Indel (missense variant)	not specified	GUncertain significance
Select item 2631144	NM_138615.3(DHX30):c.673A>T (p.Ser225Cys)	DHX30 (S186C +2 more)	Single nucleotide variant (missense variant)	DHX30-related disorder	GUncertain significance
Select item 2630835	NM_138615.3(DHX30):c.1778C>T (p.Thr593Ile)	DHX30 (T554I +2 more)	Single nucleotide variant (missense variant)	DHX30-related disorder	GUncertain significance
Select item 2630312	NM_138615.3(DHX30):c.1913_1924del (p.Arg638_His641del)	DHX30	Deletion (inframe_deletion)	DHX30-related disorder	GUncertain significance
Select item 2627176	NM_138615.3(DHX30):c.521G>A (p.Arg174Gln)	DHX30 (R135Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618246	NM_138615.3(DHX30):c.2060G>A (p.Arg687His)	DHX30 (R648H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600667	NM_138615.3(DHX30):c.1420C>T (p.Arg474Cys)	DHX30 (R446C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597226	NM_138615.3(DHX30):c.433C>G (p.Arg145Gly)	DHX30 (R106G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2593123	NM_138615.3(DHX30):c.1480A>C (p.Ile494Leu)	DHX30 (I455L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2581442	NM_138615.3(DHX30):c.2880T>G (p.Asn960Lys)	DHX30 (N921K +2 more)	Single nucleotide variant (missense variant)	not specified	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 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 2578044	NM_138615.3(DHX30):c.3263_3266del (p.Val1088fs)	DHX30 (V1049fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2576568	NM_138615.3(DHX30):c.2335C>T (p.Arg779Cys)	DHX30 (R740C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 2576175	NM_138615.3(DHX30):c.2359C>T (p.Gln787Ter)	DHX30 (Q748* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 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 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 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 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 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 2571616	NM_138615.3(DHX30):c.1930-1G>T	DHX30	Single nucleotide variant (splice acceptor variant)	Autism, susceptiblity to	GPathogenic
Select item 2558663	NM_138615.3(DHX30):c.2875G>A (p.Glu959Lys)	DHX30 (E959K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558062	NM_138615.3(DHX30):c.681T>G (p.Phe227Leu)	DHX30 (F227L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530706	NM_138615.3(DHX30):c.503T>G (p.Leu168Arg)	DHX30 (L129R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2505707	NM_138615.3(DHX30):c.647A>G (p.His216Arg)	DHX30 (H177R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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