Related gene-specific medical variations for Gene (Select 5970) - ClinVar - NCBI

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Related gene-specific medical variations for Gene (Select 5970) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256235	NM_021975.4(RELA):c.4G>T (p.Asp2Tyr)	LOC130006055, RELA (D2Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3244785	NC_000011.9:g.(?_65420156)_(65422230_?)del	RELA	Deletion	not provided	GPathogenic
Select item 2575942	NM_021975.4(RELA):c.1541C>G (p.Ala514Gly)	RELA (A387G +9 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1530525	NM_021975.4(RELA):c.7+11C>T	LOC130006055, RELA	Single nucleotide variant (intron variant)	not provided	GLikely benign

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