ClinVar for MedGen (Select 934753) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585190	NM_003200.5(TCF3):c.1543GAG[2] (p.Glu517del)	TCF3 (E516del +1 more)	Microsatellite (inframe_deletion)	Agammaglobulinemia 8, autosomal dominant	GUncertain significance
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 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 1574845	NM_003200.5(TCF3):c.136G>A (p.Gly46Arg)	TCF3 (G46R)	Single nucleotide variant (missense variant)	Agammaglobulinemia 8, autosomal dominant +1 more	GLikely 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 1404537	NM_003200.5(TCF3):c.1589C>G (p.Pro530Arg)	TCF3 (P529R +1 more)	Single nucleotide variant (missense variant +1 more)	Agammaglobulinemia 8, autosomal dominant +1 more	GUncertain significance
Select item 1342488	NM_003200.5(TCF3):c.107G>A (p.Arg36Gln)	TCF3 (R36Q)	Single nucleotide variant (missense variant)	Agammaglobulinemia 8, autosomal dominant +1 more	GUncertain significance
Select item 1341825	NM_003200.5(TCF3):c.955+204G>A	TCF3	Single nucleotide variant (intron variant)	Agammaglobulinemia 8, autosomal dominant	GUncertain significance
Select item 1339126	NM_003200.5(TCF3):c.1049C>T (p.Ser350Leu)	TCF3 (S350L)	Single nucleotide variant (missense variant)	Agammaglobulinemia 8, autosomal dominant	GUncertain significance
Select item 1339124	NM_003200.5(TCF3):c.1121C>A (p.Ala374Asp)	TCF3 (A374D)	Single nucleotide variant (missense variant)	Agammaglobulinemia 8, autosomal dominant	GUncertain significance
Select item 1333896	NM_003200.5(TCF3):c.1670G>A (p.Arg557Gln)	TCF3 (R556Q +1 more)	Single nucleotide variant (intron variant +1 more)	Agammaglobulinemia 8, autosomal dominant	GUncertain significance
Select item 1185424	NM_003200.5(TCF3):c.72+42T>C	TCF3	Single nucleotide variant (intron variant)	Agammaglobulinemia 8, autosomal dominant +1 more	GBenign
Select item 1185423	NM_003200.5(TCF3):c.145+133G>A	TCF3	Single nucleotide variant (intron variant)	Agammaglobulinemia 8, autosomal dominant	GBenign
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 982676	NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs)	TCF3 (S445fs +1 more)	Deletion (frameshift variant)	Agammaglobulinemia 8, autosomal dominant	GLikely pathogenic
Select item 973674	NM_003200.5(TCF3):c.473G>A (p.Arg158Gln)	TCF3 (R158Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 812052	NM_003200.5(TCF3):c.1806G>A (p.Leu602=)	TCF3	Single nucleotide variant (synonymous variant +1 more)	Agammaglobulinemia 8, autosomal dominant +1 more	GLikely benign
Select item 811326	NM_003200.5(TCF3):c.23C>T (p.Ala8Val)	TCF3 (A8V)	Single nucleotide variant (missense variant)	not provided +2 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 714562	NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del)	TCF3 (S295del)	Microsatellite (inframe_deletion)	TCF3-related disorder +2 more	GLikely benign
Select item 713922	NM_003200.5(TCF3):c.1154G>A (p.Gly385Asp)	TCF3 (G385D)	Single nucleotide variant (missense variant)	not provided +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
Select item 225870	NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys)	TCF3 (E555K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic

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Items: 29