"TBXAS1-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2053992	NM_001061.7(TBXAS1):c.50C>T (p.Thr17Met)	LOC126860199, TBXAS1 (T18M +1 more)	Single nucleotide variant (missense variant +2 more)	TBXAS1-related condition +1 more	GUncertain significance
Select item 547027	NM_001061.7(TBXAS1):c.179G>A (p.Arg60His)	TBXAS1 (R60H)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3044455	NM_001061.7(TBXAS1):c.236+33C>T	TBXAS1	Single nucleotide variant (intron variant)	TBXAS1-related condition	GLikely benign
Select item 3041125	NM_001061.7(TBXAS1):c.333+1811G>A	TBXAS1 (R134Q)	Single nucleotide variant (missense variant +1 more)	TBXAS1-related condition	GLikely benign
Select item 499773	NM_001061.7(TBXAS1):c.357G>A (p.Ser119=)	TBXAS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1625639	NM_001061.7(TBXAS1):c.414C>G (p.Ala138=)	TBXAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 713791	NM_001061.7(TBXAS1):c.447C>T (p.Asn149=)	TBXAS1	Single nucleotide variant (synonymous variant)	TBXAS1-related condition +1 more	GBenign/Likely benign
Select item 1668674	NM_001061.7(TBXAS1):c.621T>A (p.Asp207Glu)	TBXAS1 (D140E +4 more)	Single nucleotide variant (missense variant)	TBXAS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3057439	NM_001061.7(TBXAS1):c.689-7T>C	TBXAS1	Single nucleotide variant (intron variant)	TBXAS1-related condition	GLikely benign
Select item 1550920	NM_001061.7(TBXAS1):c.726T>C (p.Ile242=)	TBXAS1	Single nucleotide variant (synonymous variant)	TBXAS1-related condition +1 more	GBenign/Likely benign
Select item 193618	NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys)	TBXAS1 (E320K +4 more)	Single nucleotide variant (missense variant)	TBXAS1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 768205	NM_001061.7(TBXAS1):c.1246C>G (p.Gln416Glu)	TBXAS1 (Q355E +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1613991	NM_001061.7(TBXAS1):c.1269G>A (p.Gln423=)	TBXAS1	Single nucleotide variant (synonymous variant)	TBXAS1-related condition +1 more	GLikely benign
Select item 1653640	NM_001061.7(TBXAS1):c.1270C>T (p.Arg424Cys)	TBXAS1 (R357C +4 more)	Single nucleotide variant (missense variant)	TBXAS1-related condition +2 more	GBenign/Likely benign
Select item 2180982	NM_001061.7(TBXAS1):c.1278C>T (p.Pro426=)	TBXAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 596868	NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln)	TBXAS1 (R398Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1992626	NM_001061.7(TBXAS1):c.1422C>T (p.Ala474=)	TBXAS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign