ClinVar for MedGen (Select 1741014) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584597	NM_001127208.3(TET2):c.5777G>A (p.Arg1926His)	TET2, TET2-AS1 (R1926H)	Single nucleotide variant (missense variant)	Immunodeficiency 75	GUncertain significance
Select item 2582572	NM_001127208.3(TET2):c.3409+39C>T	TET2, TET2-AS1 (P1150S)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 75	GUncertain significance
Select item 2582545	NM_001127208.3(TET2):c.1712G>A (p.Arg571His)	TET2, TET2-AS1 (R571H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2442793	NM_001127208.3(TET2):c.2188del (p.Thr730fs)	TET2, TET2-AS1 (T730fs)	Deletion (frameshift variant)	Immunodeficiency 75	GLikely pathogenic
Select item 2441670	NM_001127208.3(TET2):c.1621C>G (p.Leu541Val)	TET2-AS1, TET2 (L541V)	Single nucleotide variant (missense variant)	Immunodeficiency 75	GUncertain significance
Select item 2437044	NM_001127208.3(TET2):c.5107G>T (p.Gly1703Ter)	TET2, TET2-AS1 (G1703*)	Single nucleotide variant (nonsense)	Immunodeficiency 75	GUncertain significance
Select item 1879612	NM_001127208.3(TET2):c.685dup (p.Thr229fs)	TET2, TET2-AS1 (T229fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1699010	NM_001127208.3(TET2):c.4600C>T (p.Gln1534Ter)	TET2, TET2-AS1 (Q1534*)	Single nucleotide variant (nonsense)	Immunodeficiency 75	GUncertain significance
Select item 989406	NM_001127208.3(TET2):c.4894C>T (p.Gln1632Ter)	TET2, TET2-AS1 (Q1632*)	Single nucleotide variant (nonsense)	Immunodeficiency 75	GPathogenic
Select item 430399	NM_001127208.3(TET2):c.4145A>G (p.His1382Arg)	TET2-AS1, TET2 (H1382R)	Single nucleotide variant (genic downstream transcript variant +1 more)	not provided	GUncertain significance
Select item 135318	NM_001127208.3(TET2):c.1285G>A (p.Gly429Arg)	TET2, TET2-AS1 (G429R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 135298	NM_001127208.3(TET2):c.5305G>C (p.Ala1769Pro)	TET2, TET2-AS1 (A1769P)	Single nucleotide variant (missense variant)	Immunodeficiency 75 +1 more	GUncertain significance