C0220704[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636939	NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del)	TBX1	Deletion (inframe_deletion)	not provided +5 more	GUncertain significance
Select item 1414844	NM_001379200.1(TBX1):c.711+3G>A	TBX1	Single nucleotide variant (intron variant)	TBX1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1382862	NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg)	TBX1 (Q247R +1 more)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +3 more	GUncertain significance
Select item 1114796	NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)	TBX1 (R305Q +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +3 more	GLikely benign
Select item 518715	NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)	TBX1 (G350D +1 more)	Single nucleotide variant (missense variant +1 more)	Conotruncal heart malformations +6 more	GConflicting classifications of pathogenicity
Select item 1060987	NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1])	TBX1	Microsatellite (inframe_deletion +1 more)	DiGeorge syndrome +3 more	GUncertain significance
Select item 800274	NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)	TBX1 (P384Q +1 more)	Single nucleotide variant (missense variant +1 more)	Conotruncal heart malformations +4 more	GConflicting classifications of pathogenicity
Select item 803643	NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)	TBX1 (P396L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 598931	NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	DiGeorge syndrome +4 more	GConflicting classifications of pathogenicity