Related gene-specific medical variations for Gene (Select 100287015) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1247321	NR_040040.1(MCPH1-DT):n.131G>A	LOC129999779, MCPH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1245106	NR_040040.1(MCPH1-DT):n.123G>C	LOC129999779, MCPH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1243287	NR_040040.1(MCPH1-DT):n.158T>A	LOC129999779, MCPH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1238897	NR_040040.1(MCPH1-DT):n.117C>G	LOC129999779, MCPH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign

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