Related gene-specific medical variations for Gene (Select 3142) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2472821	NM_021958.4(HLX):c.58G>T (p.Ala20Ser)	HLX, HLX-AS1 (A20S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250458	NM_021958.4(HLX):c.151C>T (p.His51Tyr)	HLX-AS1, HLX (H51Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240367	NM_021958.4(HLX):c.133T>A (p.Cys45Ser)	HLX-AS1, HLX (C45S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231075	NM_021958.4(HLX):c.161T>G (p.Val54Gly)	HLX, HLX-AS1 (V54G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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