ClinVar for Gene (Select 23078) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 128

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189368	NM_015058.2(VWA8):c.592A>G (p.Met198Val)	VWA8 (M198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189367	NM_015058.2(VWA8):c.350G>T (p.Arg117Leu)	VWA8 (R117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189366	NM_015058.2(VWA8):c.349C>T (p.Arg117Cys)	VWA8 (R117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189365	NM_015058.2(VWA8):c.31C>T (p.Pro11Ser)	LOC130009639, VWA8 (P11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189363	NM_015058.2(VWA8):c.3082G>A (p.Gly1028Arg)	VWA8 (G1028R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189362	NM_015058.2(VWA8):c.2812G>A (p.Glu938Lys)	VWA8 (E938K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189361	NM_015058.2(VWA8):c.2777A>T (p.His926Leu)	VWA8 (H926L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189360	NM_015058.2(VWA8):c.2607G>T (p.Met869Ile)	VWA8 (M869I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189359	NM_015058.2(VWA8):c.25G>C (p.Gly9Arg)	LOC130009639, VWA8 (G9R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3189358	NM_015058.2(VWA8):c.2473G>A (p.Gly825Arg)	VWA8 (G825R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189357	NM_015058.2(VWA8):c.1963G>C (p.Ala655Pro)	VWA8 (A655P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189356	NM_015058.2(VWA8):c.1649A>G (p.Tyr550Cys)	VWA8 (Y550C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189355	NM_015058.2(VWA8):c.1546A>G (p.Ile516Val)	VWA8 (I516V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189354	NM_015058.2(VWA8):c.1366A>G (p.Ile456Val)	VWA8 (I456V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189353	NM_015058.2(VWA8):c.1183C>T (p.Arg395Trp)	VWA8 (R395W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067350	NM_015058.2(VWA8):c.5466T>G (p.Asp1822Glu)	VWA8 (D1822E)	Single nucleotide variant (missense variant)	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 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	INTS6, ITM2B +119 more	Copy number loss	not provided	GPathogenic
Select item 2672545	NM_015058.2(VWA8):c.4690G>A (p.Val1564Met)	VWA8 (V1564M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643781	NM_015058.2(VWA8):c.4593A>G (p.Gln1531=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643780	NM_015058.2(VWA8):c.4596T>C (p.Asp1532=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609621	NM_015058.2(VWA8):c.2041G>A (p.Val681Ile)	VWA8 (V681I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607197	NM_015058.2(VWA8):c.1315A>G (p.Met439Val)	VWA8 (M439V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604040	NM_015058.2(VWA8):c.3073A>T (p.Ile1025Leu)	VWA8 (I1025L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588779	NM_015058.2(VWA8):c.454C>T (p.Arg152Cys)	VWA8 (R152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580280	NM_015058.2(VWA8):c.3070G>A (p.Gly1024Arg)	VWA8	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2568715	NM_015058.2(VWA8):c.1250C>T (p.Ala417Val)	VWA8 (A417V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556512	NM_015058.2(VWA8):c.610C>T (p.Arg204Cys)	VWA8 (R204C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550363	NM_015058.2(VWA8):c.476T>G (p.Ile159Ser)	VWA8 (I159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537789	NM_015058.2(VWA8):c.205A>G (p.Ile69Val)	VWA8 (I69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526270	NM_015058.2(VWA8):c.1082G>T (p.Arg361Leu)	VWA8 (R361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518764	NM_015058.2(VWA8):c.2222A>G (p.Tyr741Cys)	VWA8 (Y741C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505503	NM_015058.2(VWA8):c.[3070G>A;4558C>T]	VWA8 (R1520*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 97	GPathogenic
Select item 2476988	NM_015058.2(VWA8):c.632G>A (p.Arg211His)	VWA8 (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476962	NM_015058.2(VWA8):c.3023A>G (p.Tyr1008Cys)	VWA8 (Y1008C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468833	NM_015058.2(VWA8):c.2089G>A (p.Ala697Thr)	VWA8 (A697T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468822	NM_015058.2(VWA8):c.1611C>G (p.Ser537Arg)	VWA8 (S537R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464737	NM_015058.2(VWA8):c.95G>T (p.Arg32Leu)	LOC130009639, VWA8 (R32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454392	NM_015058.2(VWA8):c.385C>T (p.Arg129Trp)	VWA8 (R129W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429446	NM_015058.2(VWA8):c.947A>G (p.Asp316Gly)	VWA8 (D316G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2424733	NC_000013.10:g.(?_41367363)_(43181054_?)dup	AKAP11, DGKH +10 more	Duplication	not provided	GUncertain significance
Select item 2395668	NM_015058.2(VWA8):c.43G>A (p.Gly15Ser)	LOC130009639, VWA8 (G15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391696	NM_015058.2(VWA8):c.845G>A (p.Gly282Glu)	VWA8 (G282E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387396	NM_015058.2(VWA8):c.1207A>C (p.Ile403Leu)	VWA8 (I403L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382553	NM_015058.2(VWA8):c.3105G>C (p.Gln1035His)	VWA8 (Q1035H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381123	NM_015058.2(VWA8):c.610C>A (p.Arg204Ser)	VWA8 (R204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362810	NM_015058.2(VWA8):c.1527G>C (p.Lys509Asn)	VWA8 (K509N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352224	NM_015058.2(VWA8):c.1439G>A (p.Arg480His)	VWA8 (R480H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348436	NM_015058.2(VWA8):c.5498A>C (p.Asn1833Thr)	VWA8 (N1833T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329510	NM_015058.2(VWA8):c.970A>G (p.Ile324Val)	VWA8 (I324V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290848	NM_015058.2(VWA8):c.1991G>A (p.Arg664Gln)	VWA8 (R664Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289657	NM_015058.2(VWA8):c.1787G>A (p.Gly596Glu)	VWA8 (G596E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271564	NM_015058.2(VWA8):c.2368A>T (p.Ile790Phe)	VWA8 (I790F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261649	NM_015058.2(VWA8):c.2683C>T (p.Pro895Ser)	VWA8 (P895S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261648	NM_015058.2(VWA8):c.125A>G (p.Glu42Gly)	LOC130009639, VWA8 (E42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253787	NM_015058.2(VWA8):c.3051T>G (p.Ile1017Met)	VWA8 (I1017M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250501	NM_015058.2(VWA8):c.1175T>C (p.Val392Ala)	VWA8 (V392A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245158	NM_015058.2(VWA8):c.1552C>T (p.Arg518Trp)	VWA8 (R518W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244727	NM_015058.2(VWA8):c.2579T>C (p.Leu860Ser)	VWA8 (L860S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238953	NM_015058.2(VWA8):c.2476C>T (p.Leu826Phe)	VWA8 (L826F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209871	NM_015058.2(VWA8):c.22C>T (p.Leu8Phe)	LOC130009639, VWA8 (L8F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205855	NM_015058.2(VWA8):c.1258C>T (p.Arg420Cys)	VWA8 (R420C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	ACOD1, AKAP11 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527769	GRCh37/hg19 13q14.11(chr13:42406426-42577775)	VWA8	Copy number loss	not specified	GUncertain significance
Select item 1527767	GRCh37/hg19 13q13.3-14.11(chr13:39428367-43608103)	AKAP11, COG6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	MIR16-1, MLNR +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 979368	GRCh37/hg19 13q14.11(chr13:42103787-42534815)x3	VWA8	Copy number gain	not provided	GLikely benign
Select item 789634	NM_015058.2(VWA8):c.163+8G>A	LOC130009639, VWA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788445	NM_015058.2(VWA8):c.1222G>A (p.Gly408Arg)	VWA8 (G408R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788444	NM_015058.2(VWA8):c.1491G>T (p.Arg497=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784677	NM_015058.2(VWA8):c.2811C>T (p.Leu937=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770991	NM_015058.2(VWA8):c.4315A>C (p.Ile1439Leu)	VWA8 (I1439L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 747553	NM_015058.2(VWA8):c.1251G>A (p.Ala417=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737789	NM_015058.2(VWA8):c.4467A>G (p.Ala1489=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710186	NM_015058.2(VWA8):c.957A>T (p.Ala319=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710185	NM_015058.2(VWA8):c.2503-8C>T	VWA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708894	NM_015058.2(VWA8):c.3602C>T (p.Ala1201Val)	VWA8 (A1201V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 685228	GRCh37/hg19 13q14.11(chr13:42284274-42302851)x1	VWA8	Copy number loss	not provided	GUncertain significance
Select item 617841	NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln)	VWA8 (R668Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 617840	NM_015058.2(VWA8):c.2451G>A (p.Thr817=)	VWA8	Single nucleotide variant (synonymous variant)	Nonsyndromic cleft lip palate	GLikely pathogenic
Select item 617839	NM_015058.2(VWA8):c.3676-7T>C	VWA8	Single nucleotide variant (intron variant)	Nonsyndromic cleft lip palate	GLikely pathogenic
Select item 617838	NM_015058.2(VWA8):c.4558C>T (p.Arg1520Ter)	VWA8 (R1520*)	Single nucleotide variant (nonsense)	Nonsyndromic cleft lip palate	GLikely pathogenic
Select item 617837	NM_015058.2(VWA8):c.4690G>C (p.Val1564Leu)	VWA8 (V1564L)	Single nucleotide variant (missense variant)	Nonsyndromic cleft lip palate	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 443133	GRCh37/hg19 13q14.11(chr13:42149812-42734566)x3	DGKH, VWA8	Copy number gain	See cases	GUncertain significance
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2