Related gene-specific medical variations for Gene (Select 22907) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382630	NM_138615.3(DHX30):c.1030C>T (p.Arg344Ter)	DHX30 (R305* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with severe motor impairment and absent language	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 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 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 2576175	NM_138615.3(DHX30):c.2359C>T (p.Gln787Ter)	DHX30 (Q748* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2440777	NM_138615.3(DHX30):c.73C>T (p.Arg25Cys)	DHX30 (R25C)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 2440776	NM_138615.3(DHX30):c.1624C>T (p.Arg542Cys)	DHX30 (R503C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 2440775	NM_138615.3(DHX30):c.1109C>T (p.Ser370Leu)	DHX30 (S331L +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 2440774	NM_138615.3(DHX30):c.270C>A (p.His90Gln)	DHX30 (H51Q +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 2440773	NM_138615.3(DHX30):c.1666G>A (p.Val556Ile)	DHX30 (V517I +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 2440771	NM_138615.3(DHX30):c.577G>A (p.Glu193Lys)	DHX30 (E154K +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 2440770	NM_138615.3(DHX30):c.1948C>T (p.Leu650Phe)	DHX30 (L611F +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 2440769	NM_138615.3(DHX30):c.2245A>G (p.Ser749Gly)	DHX30 (S710G +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 2440768	NM_138615.3(DHX30):c.3403G>A (p.Val1135Met)	DHX30 (V1096M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440767	NM_138615.3(DHX30):c.3287C>T (p.Pro1096Leu)	DHX30 (P1057L +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 1341913	NM_138615.3(DHX30):c.1237C>T (p.Leu413Phe)	DHX30 (L374F +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 1213813	NM_138615.3(DHX30):c.2845G>T (p.Val949Leu)	DHX30 (V910L +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance
Select item 931675	NM_138615.3(DHX30):c.1384G>A (p.Gly462Arg)	DHX30 (G462R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance

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Links from Gene

Items: 21