Related gene-specific medical variations for Gene (Select 7057) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353653	NM_003246.4(THBS1):c.3189G>T (p.Val1063=)	LOC126862110, THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder	GLikely benign
Select item 3176952	NM_003246.4(THBS1):c.3235G>A (p.Ala1079Thr)	LOC126862110, THBS1 (A1079T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042608	NM_003246.4(THBS1):c.3156C>T (p.Pro1052=)	LOC126862110, THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder	GLikely benign
Select item 2475915	NM_003246.4(THBS1):c.3428A>G (p.Tyr1143Cys)	LOC126862110, THBS1 (Y1143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475805	NM_003246.4(THBS1):c.3101G>A (p.Arg1034His)	LOC126862110, THBS1 (R1034H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428610	NM_003246.4(THBS1):c.542T>C (p.Val181Ala)	THBS1 (V181A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2213205	NM_003246.4(THBS1):c.3496G>A (p.Glu1166Lys)	LOC126862110, THBS1 (E1166K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 729190	NM_003246.4(THBS1):c.3351G>A (p.Lys1117=)	LOC126862110, THBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717028	NM_003246.4(THBS1):c.3267+10A>G	LOC126862110, 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 523011	NM_003246.4(THBS1):c.1361G>C (p.Gly454Ala)	THBS1 (G454A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance