ClinVar for Gene (Select 55901) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352968	NM_018676.4(THSD1):c.670C>G (p.Arg224Gly)	THSD1 (R224G)	Single nucleotide variant (missense variant)	THSD1-related disorder	GBenign
Select item 3325976	NM_018676.4(THSD1):c.1075G>A (p.Gly359Ser)	THSD1 (G359S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325975	NM_018676.4(THSD1):c.1577C>T (p.Pro526Leu)	THSD1 (P526L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325974	NM_018676.4(THSD1):c.994G>C (p.Glu332Gln)	THSD1 (E332Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325973	NM_018676.4(THSD1):c.439G>A (p.Val147Met)	THSD1 (V147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325972	NM_018676.4(THSD1):c.1909G>T (p.Gly637Trp)	THSD1 (G584W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325971	NM_018676.4(THSD1):c.22T>G (p.Phe8Val)	THSD1 (F8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325970	NM_018676.4(THSD1):c.1498C>T (p.Arg500Trp)	THSD1 (R447W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257007	NM_018676.4(THSD1):c.442G>A (p.Gly148Ser)	THSD1 (G148S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3177144	NM_018676.4(THSD1):c.61C>T (p.Leu21Phe)	THSD1 (L21F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177143	NM_018676.4(THSD1):c.496G>A (p.Val166Ile)	THSD1 (V166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177142	NM_018676.4(THSD1):c.31C>G (p.Leu11Val)	THSD1 (L11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177141	NM_018676.4(THSD1):c.2293C>A (p.Pro765Thr)	THSD1 (P712T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177140	NM_018676.4(THSD1):c.2279G>T (p.Arg760Leu)	THSD1 (R707L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177139	NM_018676.4(THSD1):c.2210A>G (p.Lys737Arg)	THSD1 (K737R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177138	NM_018676.4(THSD1):c.1772T>G (p.Phe591Cys)	THSD1 (F538C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177137	NM_018676.4(THSD1):c.1243G>A (p.Val415Met)	THSD1 (V362M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148943	GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1	ALG11, ARL11 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3059040	NM_018676.4(THSD1):c.495C>T (p.Ile165=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GBenign
Select item 3054611	NM_018676.4(THSD1):c.2136C>T (p.Phe712=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3053491	NM_018676.4(THSD1):c.1944C>T (p.Ala648=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3051745	NM_018676.4(THSD1):c.1356C>T (p.Asn452=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GBenign
Select item 3051018	NM_018676.4(THSD1):c.1389G>A (p.Ser463=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3049790	NM_018676.4(THSD1):c.702T>C (p.Ile234=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3049369	NM_018676.4(THSD1):c.1314G>A (p.Arg438=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3048677	NM_018676.4(THSD1):c.1632T>C (p.Gly544=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3045947	NM_018676.4(THSD1):c.1449C>T (p.Asp483=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3045504	NM_018676.4(THSD1):c.1053G>A (p.Gln351=)	THSD1	Single nucleotide variant (synonymous variant +1 more)	THSD1-related disorder	GBenign
Select item 3042486	NM_018676.4(THSD1):c.1791C>T (p.Val597=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3041671	NM_018676.4(THSD1):c.471G>A (p.Pro157=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3040967	NM_018676.4(THSD1):c.681C>T (p.Val227=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3038987	NM_018676.4(THSD1):c.816C>T (p.Val272=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3038735	NM_018676.4(THSD1):c.936G>A (p.Lys312=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3037862	NM_018676.4(THSD1):c.2303A>G (p.Lys768Arg)	THSD1 (K715R +1 more)	Single nucleotide variant (missense variant)	THSD1-related disorder	GBenign
Select item 3037810	NM_018676.4(THSD1):c.1530C>T (p.Ala510=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3037659	NM_018676.4(THSD1):c.1425C>T (p.Arg475=)	THSD1	Single nucleotide variant (synonymous variant)	THSD1-related disorder	GLikely benign
Select item 3037282	NM_018676.4(THSD1):c.701T>C (p.Ile234Thr)	THSD1 (I234T)	Single nucleotide variant (missense variant)	THSD1-related disorder	GLikely benign
Select item 3027099	NM_018676.4(THSD1):c.91G>A (p.Glu31Lys)	THSD1 (E31K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026576	NM_018676.4(THSD1):c.2218C>T (p.Leu740Phe)	THSD1 (L687F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2685465	GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	GUncertain significance
Select item 2672546	NM_018676.4(THSD1):c.1788G>A (p.Ala596=)	THSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643829	NM_018676.4(THSD1):c.464T>C (p.Leu155Pro)	THSD1 (L155P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643828	NM_018676.4(THSD1):c.1799G>A (p.Gly600Glu)	THSD1 (G547E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643827	NM_018676.4(THSD1):c.2115T>C (p.Phe705=)	THSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633261	NM_018676.4(THSD1):c.2237G>A (p.Gly746Glu)	THSD1 (G693E +1 more)	Single nucleotide variant (missense variant)	THSD1-related disorder	GUncertain significance
Select item 2599005	NM_018676.4(THSD1):c.1019C>T (p.Thr340Ile)	THSD1 (T340I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2575997	NM_018676.4(THSD1):c.2281C>T (p.Arg761Trp)	THSD1 (R708W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2546727	NM_018676.4(THSD1):c.2056C>T (p.Arg686Trp)	THSD1 (R633W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532027	NM_018676.4(THSD1):c.243G>T (p.Gln81His)	THSD1 (Q81H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527163	NM_018676.4(THSD1):c.2344G>T (p.Asp782Tyr)	THSD1 (D782Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512339	NM_018676.4(THSD1):c.697C>G (p.Pro233Ala)	THSD1 (P233A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498584	NM_018676.4(THSD1):c.1698G>A (p.Ala566=)	THSD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498195	NM_018676.4(THSD1):c.892G>T (p.Glu298Ter)	THSD1 (E298*)	Single nucleotide variant (nonsense)	Lymphatic malformation 13	GPathogenic
Select item 2488607	NM_018676.4(THSD1):c.1301C>T (p.Thr434Met)	THSD1 (T434M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488418	NM_018676.4(THSD1):c.1250T>G (p.Val417Gly)	THSD1 (V364G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479114	NM_018676.4(THSD1):c.2327C>T (p.Ser776Phe)	THSD1 (S723F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474293	NM_018676.4(THSD1):c.1763A>G (p.Lys588Arg)	THSD1 (K588R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463188	NM_018676.4(THSD1):c.968G>A (p.Ser323Asn)	THSD1 (S323N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444420	NM_018676.4(THSD1):c.1021+5G>A	THSD1	Single nucleotide variant (intron variant)	Aneurysm, intracranial berry, 12	GUncertain significance
Select item 2443746	NM_018676.4(THSD1):c.1322_1329del (p.Arg441fs)	THSD1 (R388fs +1 more)	Deletion (frameshift variant)	Lymphatic malformation 13	GPathogenic
Select item 2443745	NM_018676.4(THSD1):c.1561C>T (p.Gln521Ter)	THSD1 (Q521* +1 more)	Single nucleotide variant (nonsense)	Lymphatic malformation 13	GPathogenic
Select item 2400419	NM_018676.4(THSD1):c.2363G>C (p.Ser788Thr)	THSD1 (S735T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399428	NM_018676.4(THSD1):c.802G>A (p.Val268Ile)	THSD1 (V268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385372	NM_018676.4(THSD1):c.211A>T (p.Thr71Ser)	THSD1 (T71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371270	NM_018676.4(THSD1):c.524T>G (p.Leu175Arg)	THSD1 (L175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331444	NM_018676.4(THSD1):c.2491G>C (p.Gly831Arg)	THSD1 (G778R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324974	NM_018676.4(THSD1):c.692C>T (p.Thr231Ile)	THSD1 (T231I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313713	NM_018676.4(THSD1):c.1067G>A (p.Cys356Tyr)	THSD1 (C356Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305281	NM_018676.4(THSD1):c.838A>G (p.Arg280Gly)	THSD1 (R280G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299808	NM_018676.4(THSD1):c.2447C>T (p.Ser816Leu)	THSD1 (S816L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270237	NM_018676.4(THSD1):c.1003C>G (p.Leu335Val)	THSD1 (L335V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269672	NM_018676.4(THSD1):c.1784C>T (p.Pro595Leu)	THSD1 (P542L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247726	NM_018676.4(THSD1):c.2186A>G (p.Tyr729Cys)	THSD1 (Y676C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234876	NM_018676.4(THSD1):c.1508C>T (p.Pro503Leu)	THSD1 (P450L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233128	NM_018676.4(THSD1):c.1783C>T (p.Pro595Ser)	THSD1 (P542S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229820	NM_018676.4(THSD1):c.1087C>T (p.Arg363Cys)	THSD1 (R363C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1804813	NM_018676.4(THSD1):c.1996C>T (p.Arg666Ter)	THSD1 (R613* +1 more)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1706562	GRCh37/hg19 13q14.3(chr13:52535544-53362733)x3	ALG11, ATP7B +9 more	Copy number gain	See cases	GUncertain significance
Select item 1706527	NM_018676.4(THSD1):c.1627_1630del (p.Lys543fs)	THSD1 (K490fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527772	GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137)	ALG11, ARL11 +64 more	Copy number loss	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ATP7B, WDFY2 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1301527	NM_018676.4(THSD1):c.1619dup (p.Met540fs)	THSD1 (M487fs +1 more)	Duplication (frameshift variant)	Vascular dementia	GUncertain significance
Select item 1297020	NM_018676.4(THSD1):c.1051C>T (p.Gln351Ter)	THSD1 (Q351*)	Single nucleotide variant (nonsense +1 more)	Aortic aneurysm	GUncertain significance
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 988918	GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3	ALG11, ATP7B +15 more	Copy number gain	not provided	GUncertain significance
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	DIS3, KLF5 +62 more	Copy number loss	not provided	GPathogenic

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