ClinVar for MedGen (Select 1612104) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168461	NM_006509.4(RELB):c.1458C>T (p.Asp486=)	RELB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 996038	NM_006509.4(RELB):c.401AGC[3] (p.Gln135dup)	RELB	Microsatellite (inframe_insertion)	Immunodeficiency 53	GUncertain significance
Select item 973569	NM_006509.4(RELB):c.919C>T (p.Arg307Ter)	RELB (R307*)	Single nucleotide variant (nonsense)	Immunodeficiency 53	GLikely pathogenic
Select item 430895	NM_006509.4(RELB):c.1191C>A (p.Tyr397Ter)	RELB (Y397*)	Single nucleotide variant (nonsense)	Immunodeficiency 53	GPathogenic

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