C3150354[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5304	NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His)	TNFRSF13B (R202H)	Single nucleotide variant (missense variant)	Common Variable Immune Deficiency, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 5306	NM_012452.2(TNFRSF13B):c.581_582delCCinsAA (p.Ser194Ter)	TNFRSF13B	Indel	not provided +1 more	GPathogenic
Select item 5303	NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	TNFRSF13B (A181E)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 5307	NM_012452.3(TNFRSF13B):c.431C>A (p.Ser144Ter)	TNFRSF13B (S144*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 2	GPathogenic
Select item 5302	NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	TNFRSF13B (C104R)	Single nucleotide variant (missense variant)	TNFRSF13B-related condition +23 more	GConflicting classifications of pathogenicity; risk factor
Select item 322029	NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)	TNFRSF13B (L69fs)	Duplication (frameshift variant)	Immunodeficiency, common variable, 2 +5 more	GConflicting classifications of pathogenicity

ClinVar