C4540496[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2440778	NM_138615.3(DHX30):c.509C>G (p.Pro170Arg)	DHX30 (P131R +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 2440768	NM_138615.3(DHX30):c.3403G>A (p.Val1135Met)	DHX30 (V1096M +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language	GUncertain significance