"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "THBS1"[ - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 783705	NM_003246.4(THBS1):c.34C>T (p.Leu12=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776872	NM_003246.4(THBS1):c.75C>T (p.Gly25=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783706	NM_003246.4(THBS1):c.582C>T (p.Ile194=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739381	NM_003246.4(THBS1):c.597C>T (p.Ile199=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783707	NM_003246.4(THBS1):c.675C>T (p.Asp225=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1099055	NM_003246.4(THBS1):c.847G>A (p.Glu283Lys)	THBS1 (E283K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 774713	NM_003246.4(THBS1):c.984C>T (p.Asn328=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794500	NM_003246.4(THBS1):c.1011T>G (p.Thr337=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 757662	NM_003246.4(THBS1):c.1965C>T (p.His655=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725158	NM_003246.4(THBS1):c.2289T>C (p.Tyr763=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733360	NM_003246.4(THBS1):c.2995+4A>T	THBS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 712840	NM_003246.4(THBS1):c.3024C>T (p.Phe1008=)	LOC126862110, THBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734632	NM_003246.4(THBS1):c.3234C>T (p.Asn1078=)	LOC126862110, THBS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717028	NM_003246.4(THBS1):c.3267+10A>G	LOC126862110, THBS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729190	NM_003246.4(THBS1):c.3351G>A (p.Lys1117=)	LOC126862110, THBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3243876	NC_000015.9:g.(?_38545387)_(40293445_?)dup	EIF2AK4, FAM98B +7 more	Duplication	not provided	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance