ClinVar for MedGen (Select 1808468) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500098	NM_003200.5(TCF3):c.320C>T (p.Ala107Val)	TCF3 (A107V)	Single nucleotide variant (missense variant)	Agammaglobulinemia 8, autosomal dominant +1 more	GUncertain significance
Select item 1676602	TCF3, EX5-11 DEL	TCF3	Deletion	Agammaglobulinemia 8b, autosomal recessive	GPathogenic
Select item 1676601	NM_003200.5(TCF3):c.808C>T (p.Gln270Ter)	TCF3 (Q270*)	Single nucleotide variant (nonsense)	Agammaglobulinemia 8b, autosomal recessive	GPathogenic
Select item 1607823	NM_003200.5(TCF3):c.823-13C>T	TCF3	Single nucleotide variant (intron variant)	Agammaglobulinemia 8, autosomal dominant +2 more	GBenign/Likely benign
Select item 1432193	NM_003200.5(TCF3):c.1430G>A (p.Arg477Gln)	TCF3 (R476Q +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 8, autosomal dominant +2 more	GUncertain significance
Select item 1051931	NM_003200.5(TCF3):c.1327-3C>A	TCF3	Single nucleotide variant (intron variant)	Agammaglobulinemia 8, autosomal dominant +2 more	GUncertain significance
Select item 1050473	NM_003200.5(TCF3):c.1541C>T (p.Ser514Leu)	TCF3 (S513L +1 more)	Single nucleotide variant (missense variant)	TCF3-related disorder +3 more	GUncertain significance
Select item 735931	NM_003200.5(TCF3):c.1564A>C (p.Lys522Gln)	TCF3 (K522Q +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 8, autosomal dominant +2 more	GLikely benign
Select item 730318	NM_003200.5(TCF3):c.307G>A (p.Gly103Ser)	TCF3 (G103S)	Single nucleotide variant (missense variant)	Agammaglobulinemia 8b, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 719522	NM_003200.5(TCF3):c.315G>A (p.Arg105=)	TCF3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 717103	NM_003200.5(TCF3):c.1713G>A (p.Glu571=)	TCF3	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 8, autosomal dominant +2 more	GBenign/Likely benign
Select item 709097	NM_003200.5(TCF3):c.1948C>A (p.Pro650Thr)	TCF3 (P649T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 626182	NM_001136139.4(TCF3):c.1755G>A (p.Lys585=)	TCF3	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 8, autosomal dominant +1 more	GUncertain significance
Select item 626027	NM_003200.5(TCF3):c.229G>A (p.Glu77Lys)	TCF3 (E77K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance