THBS1[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 57226	GRCh38/hg38 15q14(chr15:34995451-39735062)x1	CDIN1, DPH6 +92 more	Copy number loss	See cases	GPathogenic
Select item 783705	NM_003246.4(THBS1):c.34C>T (p.Leu12=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3344153	NM_003246.3(THBS1):c.68_69delAG	THBS1	Microsatellite	THBS1-related disorder	GUncertain significance
Select item 776872	NM_003246.4(THBS1):c.75C>T (p.Gly25=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2354594	NM_003246.4(THBS1):c.77G>C (p.Gly26Ala)	THBS1 (G26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176947	NM_003246.4(THBS1):c.121C>A (p.Arg41Ser)	THBS1 (R41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279947	NM_003246.4(THBS1):c.124A>G (p.Lys42Glu)	THBS1 (K42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353703	NM_003246.4(THBS1):c.143T>A (p.Leu48Gln)	THBS1 (L48Q)	Single nucleotide variant (missense variant)	THBS1-related disorder	GUncertain significance
Select item 2214583	NM_003246.4(THBS1):c.154C>T (p.Pro52Ser)	THBS1 (P52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307287	NM_003246.4(THBS1):c.212C>G (p.Pro71Arg)	THBS1 (P71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369692	NM_003246.4(THBS1):c.235G>A (p.Val79Met)	THBS1 (V79M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491652	NM_003246.4(THBS1):c.331G>A (p.Asp111Asn)	THBS1 (D111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176953	NM_003246.4(THBS1):c.341G>A (p.Gly114Asp)	THBS1 (G114D)	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 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 2236443	NM_003246.4(THBS1):c.608G>T (p.Gly203Val)	THBS1 (G203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325856	NM_003246.4(THBS1):c.653T>A (p.Val218Asp)	THBS1 (V218D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783707	NM_003246.4(THBS1):c.675C>T (p.Asp225=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2598388	NM_003246.4(THBS1):c.698C>A (p.Ser233Tyr)	THBS1 (S233Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2615005	NM_003246.4(THBS1):c.700A>G (p.Ser234Gly)	THBS1 (S234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298675	NM_003246.4(THBS1):c.776T>C (p.Ile259Thr)	THBS1 (I259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1099055	NM_003246.4(THBS1):c.847G>A (p.Glu283Lys)	THBS1 (E283K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2385570	NM_003246.4(THBS1):c.964G>A (p.Gly322Arg)	THBS1 (G322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 929776	NM_003246.4(THBS1):c.1060C>T (p.Pro354Ser)	THBS1 (P354S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2221503	NM_003246.4(THBS1):c.1159G>A (p.Glu387Lys)	THBS1 (E387K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176945	NM_003246.4(THBS1):c.1181G>C (p.Ser394Thr)	THBS1 (S394T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3176946	NM_003246.4(THBS1):c.1190A>G (p.Asn397Ser)	THBS1 (N397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328389	NM_003246.4(THBS1):c.1235G>C (p.Arg412Pro)	THBS1 (R412P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325858	NM_003246.4(THBS1):c.1262G>A (p.Arg421Gln)	THBS1 (R421Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403534	NM_003246.4(THBS1):c.1290G>A (p.Lys430=)	THBS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 523011	NM_003246.4(THBS1):c.1361G>C (p.Gly454Ala)	THBS1 (G454A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 403535	NM_003246.4(THBS1):c.1410C>T (p.Asn470=)	THBS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3176948	NM_003246.4(THBS1):c.1430A>T (p.Glu477Val)	THBS1 (E477V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299018	NM_003246.4(THBS1):c.1445A>C (p.Lys482Thr)	THBS1 (K482T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570405	NM_003246.4(THBS1):c.1462G>A (p.Ala488Thr)	THBS1 (A488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024362	NM_003246.4(THBS1):c.1470del (p.Ile491fs)	THBS1 (I491fs)	Deletion (frameshift variant)	Hearing impairment	GUncertain significance
Select item 2545061	NM_003246.4(THBS1):c.1544G>A (p.Arg515His)	THBS1 (R515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176949	NM_003246.4(THBS1):c.1550G>A (p.Arg517His)	THBS1 (R517H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403536	NM_003246.4(THBS1):c.1563C>T (p.Asn521=)	THBS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403537	NM_003246.4(THBS1):c.1567A>G (p.Thr523Ala)	THBS1 (T523A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2319504	NM_003246.4(THBS1):c.1726C>T (p.Pro576Ser)	THBS1 (P576S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3325861	NM_003246.4(THBS1):c.1816C>G (p.His606Asp)	THBS1 (H606D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269280	NM_003246.4(THBS1):c.1836C>A (p.Asp612Glu)	THBS1 (D612E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409261	NM_003246.4(THBS1):c.1897G>C (p.Gly633Arg)	THBS1 (G633R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325857	NM_003246.4(THBS1):c.1903G>C (p.Glu635Gln)	THBS1 (E635Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279648	NM_003246.4(THBS1):c.1939C>T (p.Arg647Cys)	THBS1 (R647C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 757662	NM_003246.4(THBS1):c.1965C>T (p.His655=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	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 2591411	NM_003246.4(THBS1):c.1993T>C (p.Tyr665His)	THBS1 (Y665H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319886	NM_003246.4(THBS1):c.2012A>G (p.Asp671Gly)	THBS1 (D671G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325859	NM_003246.4(THBS1):c.2068G>C (p.Gly690Arg)	THBS1 (G690R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176950	NM_003246.4(THBS1):c.2068G>A (p.Gly690Arg)	THBS1 (G690R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176951	NM_003246.4(THBS1):c.2268C>G (p.Phe756Leu)	THBS1 (F756L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551718	NM_003246.4(THBS1):c.2269C>T (p.His757Tyr)	THBS1 (H757Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725158	NM_003246.4(THBS1):c.2289T>C (p.Tyr763=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337107	NM_003246.4(THBS1):c.2317C>T (p.Arg773Cys)	THBS1 (R773C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2592413	NM_003246.4(THBS1):c.2396C>A (p.Ala799Glu)	THBS1 (A799E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222611	NM_003246.4(THBS1):c.2463G>C (p.Gln821His)	THBS1 (Q821H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325860	NM_003246.4(THBS1):c.2467G>T (p.Asp823Tyr)	THBS1 (D823Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645161	NM_003246.4(THBS1):c.2736C>T (p.Leu912=)	THBS1	Single nucleotide variant (synonymous variant)	not provided	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 2317721	NM_003246.4(THBS1):c.2862G>C (p.Glu954Asp)	THBS1 (E954D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403538	NM_003246.4(THBS1):c.2868T>C (p.Asp956=)	THBS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2339449	NM_003246.4(THBS1):c.2872C>T (p.Arg958Cys)	THBS1 (R958C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360171	NM_003246.4(THBS1):c.2873G>A (p.Arg958His)	THBS1 (R958H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996688	NM_003246.4(THBS1):c.2875C>T (p.Arg959Ter)	THBS1 (R959*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	Gassociation
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 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 2475805	NM_003246.4(THBS1):c.3101G>A (p.Arg1034His)	LOC126862110, THBS1 (R1034H)	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 3353653	NM_003246.4(THBS1):c.3189G>T (p.Val1063=)	LOC126862110, THBS1	Single nucleotide variant (synonymous variant)	THBS1-related disorder	GLikely benign
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 3176952	NM_003246.4(THBS1):c.3235G>A (p.Ala1079Thr)	LOC126862110, THBS1 (A1079T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2475915	NM_003246.4(THBS1):c.3428A>G (p.Tyr1143Cys)	LOC126862110, THBS1 (Y1143C)	Single nucleotide variant (missense variant)	not specified	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 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 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2684755	GRCh37/hg19 15q14(chr15:38823493-39911204)x3	FSIP1, LINC02694 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 564194	GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1	THBS1, EIF2AK4 +22 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395223	GRCh37/hg19 15q14(chr15:36905047-40037396)x4	CDIN1, FAM98B +8 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 221498	GRCh37/hg19 15q14-15.1(chr15:39874092-40492503)x3	BUB1B, EIF2AK4 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 99