ClinVar for MedGen (Select 1648299) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237543	NM_005994.4(TBX2):c.346G>T (p.Asp116Tyr)	TBX2 (D116Y)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GUncertain significance
Select item 2582360	NM_005994.4(TBX2):c.431G>T (p.Gly144Val)	TBX2 (G144V)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GUncertain significance
Select item 2443992	NM_005994.4(TBX2):c.499T>C (p.Phe167Leu)	TBX2 (F167L)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GLikely pathogenic
Select item 2436988	NM_005994.4(TBX2):c.988G>T (p.Ala330Ser)	TBX2 (A330S)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GUncertain significance
Select item 2431855	NM_005994.4(TBX2):c.1934G>A (p.Gly645Asp)	TBX2 (G645D)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GUncertain significance
Select item 1708483	NM_005994.4(TBX2):c.481G>A (p.Asp161Asn)	TBX2 (D161N)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GUncertain significance
Select item 1687348	NM_005994.4(TBX2):c.887+2T>C	TBX2	Single nucleotide variant (splice donor variant)	TBX2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1334937	NM_005994.4(TBX2):c.1827C>T (p.Ser609=)	TBX2	Single nucleotide variant (synonymous variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction +1 more	GBenign
Select item 1334936	NM_005994.4(TBX2):c.1687-22C>T	TBX2	Single nucleotide variant (intron variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction +1 more	GBenign
Select item 1334935	NM_005994.4(TBX2):c.1051+43G>A	TBX2	Single nucleotide variant (intron variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction +1 more	GBenign
Select item 1334934	NM_005994.4(TBX2):c.1051+39C>G	TBX2	Single nucleotide variant (intron variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction +1 more	GBenign
Select item 1334933	NM_005994.4(TBX2):c.1051+36del	TBX2	Deletion (intron variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GBenign
Select item 1028465	NM_005994.4(TBX2):c.1295A>G (p.Lys432Arg)	TBX2 (K432R)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GUncertain significance
Select item 978728	NM_005994.4(TBX2):c.110T>G (p.Phe37Cys)	TBX2 (F37C)	Single nucleotide variant (missense variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction	GLikely pathogenic
Select item 773592	NM_005994.4(TBX2):c.1212G>A (p.Arg404=)	TBX2	Single nucleotide variant (synonymous variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction +1 more	GBenign/Likely benign
Select item 522826	NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)	TBX2 (R20Q)	Single nucleotide variant (missense variant)	TBX2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 521325	NM_005994.4(TBX2):c.914G>A (p.Arg305His)	TBX2 (R305H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 254337	NM_177438.3(DICER1):c.4605_4606del (p.Cys1535fs)	DICER1 (C1535fs)	Microsatellite (frameshift variant)	Vertebral anomalies and variable endocrine and T-cell dysfunction +3 more	GPathogenic