Related gene-specific medical variations for Gene (Select 30009) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324867	NM_013351.2(TBX21):c.242C>T (p.Pro81Leu)	LOC130061064, TBX21 (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174959	NM_013351.2(TBX21):c.311C>T (p.Pro104Leu)	LOC130061064, TBX21 (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174958	NM_013351.2(TBX21):c.292G>T (p.Asp98Tyr)	LOC130061064, TBX21 (D98Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174955	NM_013351.2(TBX21):c.112C>T (p.Pro38Ser)	LOC109286563, TBX21 (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688320	NM_013351.2(TBX21):c.99C>G (p.His33Gln)	LOC109286563, TBX21 (H33Q)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2500097	NM_013351.2(TBX21):c.113C>A (p.Pro38Gln)	LOC109286563, TBX21 (P38Q)	Single nucleotide variant (missense variant)	Immunodeficiency 88 +2 more	GUncertain significance
Select item 2471365	NM_013351.2(TBX21):c.251C>T (p.Ala84Val)	LOC130061064, TBX21 (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394542	NM_013351.2(TBX21):c.134C>A (p.Ala45Glu)	LOC109286563, TBX21 (A45E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391527	NM_013351.2(TBX21):c.190G>A (p.Val64Met)	LOC130061064, TBX21 (V64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387223	NM_013351.2(TBX21):c.175C>T (p.Pro59Ser)	LOC130061064, TBX21 (P59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363929	NM_013351.2(TBX21):c.241C>T (p.Pro81Ser)	LOC130061064, TBX21 (P81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343716	NM_013351.2(TBX21):c.90C>A (p.Asp30Glu)	LOC109286563, TBX21 (D30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326038	NM_013351.2(TBX21):c.332C>T (p.Pro111Leu)	LOC130061064, TBX21 (P111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321273	NM_013351.2(TBX21):c.302G>T (p.Gly101Val)	LOC130061064, TBX21 (G101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316976	NM_013351.2(TBX21):c.218G>C (p.Gly73Ala)	LOC130061064, TBX21 (G73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 828012	NM_013351.2(TBX21):c.326C>G (p.Ala109Gly)	LOC130061064, TBX21 (A109G)	Single nucleotide variant (missense variant)	Asthma, nasal polyps, and aspirin intolerance +1 more	GUncertain significance
Select item 626179	NM_013351.2(TBX21):c.83G>A (p.Gly28Asp)	LOC109286563, TBX21 (G28D)	Single nucleotide variant (missense variant)	Asthma, nasal polyps, and aspirin intolerance +1 more	GUncertain significance