ClinVar for OMIM (Select 618394) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238814	NM_021813.4(BACH2):c.1649G>T (p.Cys550Phe)	BACH2 (C550F)	Single nucleotide variant (missense variant)	Immunodeficiency 60	GUncertain significance
Select item 2671738	NM_021813.4(BACH2):c.2416G>C (p.Glu806Gln)	BACH2 (E806Q)	Single nucleotide variant (missense variant)	Immunodeficiency 60	GUncertain significance
Select item 2582709	NM_021813.4(BACH2):c.1427G>T (p.Ser476Ile)	BACH2 (S476I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2431834	NM_021813.4(BACH2):c.801G>T (p.Lys267Asn)	BACH2 (K267N)	Single nucleotide variant (missense variant)	Immunodeficiency 60	GUncertain significance
Select item 2431608	NM_021813.4(BACH2):c.1134G>C (p.Gln378His)	BACH2 (Q378H)	Single nucleotide variant (missense variant)	Immunodeficiency 60	GUncertain significance
Select item 1675107	NM_021813.4(BACH2):c.455C>T (p.Pro152Leu)	BACH2 (P152L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1662867	NM_021813.4(BACH2):c.2418G>C (p.Glu806Asp)	BACH2 (E806D)	Single nucleotide variant (missense variant)	Immunodeficiency 60 +1 more	GLikely benign
Select item 1166323	NM_021813.4(BACH2):c.249A>G (p.Thr83=)	BACH2	Single nucleotide variant (synonymous variant)	Immunodeficiency 60 +2 more	GBenign
Select item 1164209	NM_021813.4(BACH2):c.1506A>G (p.Val502=)	BACH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1030768	NM_021813.4(BACH2):c.1102C>T (p.Pro368Ser)	BACH2 (P368S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 989283	NM_021813.4(BACH2):c.1724T>C (p.Val575Ala)	BACH2 (V575A)	Single nucleotide variant (missense variant)	Immunodeficiency 60	GUncertain significance
Select item 778006	NM_021813.4(BACH2):c.15G>A (p.Glu5=)	BACH2	Single nucleotide variant (synonymous variant)	Immunodeficiency 60 +1 more	GBenign/Likely benign
Select item 636831	NM_021813.4(BACH2):c.955A>G (p.Thr319Ala)	BACH2 (T319A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 625844	NM_021813.4(BACH2):c.2362G>A (p.Glu788Lys)	BACH2 (E788K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625843	NM_021813.4(BACH2):c.71T>C (p.Leu24Pro)	BACH2 (L24P)	Single nucleotide variant (missense variant)	Immunodeficiency 60	GPathogenic