"PreventionGenetics, part of Exact Sciences"[submitter] AND "THBS1"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045699	NM_003246.4(THBS1):c.810C>T (p.Cys270=)	THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder	GLikely benign
Select item 403534	NM_003246.4(THBS1):c.1290G>A (p.Lys430=)	THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder +1 more	GBenign
Select item 403535	NM_003246.4(THBS1):c.1410C>T (p.Asn470=)	THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder +1 more	GBenign
Select item 403536	NM_003246.4(THBS1):c.1563C>T (p.Asn521=)	THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder +1 more	GBenign
Select item 403537	NM_003246.4(THBS1):c.1567A>G (p.Thr523Ala)	THBS1 (T523A)	Single nucleotide variant (missense variant)	THBS1-related disorder +1 more	GBenign
Select item 3043216	NM_003246.4(THBS1):c.1802A>G (p.Asn601Ser)	THBS1 (N601S)	Single nucleotide variant (missense variant)	THBS1-related disorder	GLikely benign
Select item 3043295	NM_003246.4(THBS1):c.1980C>T (p.Asn660=)	THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder	GLikely benign
Select item 725158	NM_003246.4(THBS1):c.2289T>C (p.Tyr763=)	THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder +1 more	GLikely benign
Select item 3039832	NM_003246.4(THBS1):c.2385C>T (p.Asp795=)	THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder	GLikely benign
Select item 3048631	NM_003246.4(THBS1):c.2853C>T (p.Asp951=)	THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder	GLikely benign
Select item 403538	NM_003246.4(THBS1):c.2868T>C (p.Asp956=)	THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder +1 more	GBenign
Select item 3029093	NM_003246.4(THBS1):c.2945A>G (p.Gln982Arg)	THBS1 (Q982R)	Single nucleotide variant (missense variant)	THBS1-related disorder	GUncertain significance
Select item 712840	NM_003246.4(THBS1):c.3024C>T (p.Phe1008=)	LOC126862110, THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder +1 more	GBenign/Likely benign
Select item 3042608	NM_003246.4(THBS1):c.3156C>T (p.Pro1052=)	LOC126862110, THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder	GLikely benign