"KCCC/NGS Laboratory, Kuwait Cancer Control Center"[submitter] AND "TG - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213853	NM_004612.4(TGFBR1):c.192A>G (p.Lys64=)	TGFBR1	Single nucleotide variant (synonymous variant)	Multiple self-healing squamous epithelioma +3 more	GBenign/Likely benign
Select item 259453	NM_004612.4(TGFBR1):c.805+39A>G	TGFBR1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 36857	NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)	TGFBR1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 45094	NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=)	TGFBR1	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +4 more	GBenign
Select item 45095	NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=)	TGFBR1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 259451	NM_004612.4(TGFBR1):c.1255+24G>A	TGFBR1	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 1 +4 more	GBenign
Select item 2573222	NM_004612.4(TGFBR1):c.1387-23T>G	TGFBR1	Single nucleotide variant (intron variant)	Multiple self-healing squamous epithelioma	GBenign

ClinVar