VWA8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 152159	GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1	LOC126861769, LOC126861770 +437 more	Copy number loss	See cases	GPathogenic
Select item 154825	GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3	LOC130009641, LOC130009642 +141 more	Copy number gain	See cases	GUncertain significance
Select item 59890	GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3	AKAP11, CCDC122 +111 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
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 3067350	NM_015058.2(VWA8):c.5466T>G (p.Asp1822Glu)	VWA8 (D1822E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2643780	NM_015058.2(VWA8):c.4596T>C (p.Asp1532=)	VWA8	Single nucleotide variant (synonymous 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 2505503	NM_015058.2(VWA8):c.[3070G>A;4558C>T]	VWA8 (R1520*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 97	GPathogenic
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 737789	NM_015058.2(VWA8):c.4467A>G (p.Ala1489=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770991	NM_015058.2(VWA8):c.4315A>C (p.Ile1439Leu)	VWA8 (I1439L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 708894	NM_015058.2(VWA8):c.3602C>T (p.Ala1201Val)	VWA8 (A1201V)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3189363	NM_015058.2(VWA8):c.3082G>A (p.Gly1028Arg)	VWA8 (G1028R)	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 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 2253787	NM_015058.2(VWA8):c.3051T>G (p.Ile1017Met)	VWA8 (I1017M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332479	NM_015058.2(VWA8):c.3034A>C (p.Met1012Leu)	VWA8 (M1012L)	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 3332477	NM_015058.2(VWA8):c.2972C>T (p.Pro991Leu)	VWA8 (P991L)	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 784677	NM_015058.2(VWA8):c.2811C>T (p.Leu937=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3332484	NM_015058.2(VWA8):c.2741A>T (p.Asp914Val)	VWA8 (D914V)	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 3189360	NM_015058.2(VWA8):c.2607G>T (p.Met869Ile)	VWA8 (M869I)	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 3332480	NM_015058.2(VWA8):c.2533G>A (p.Val845Ile)	VWA8 (V845I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710185	NM_015058.2(VWA8):c.2503-8C>T	VWA8	Single nucleotide variant (intron variant)	not provided	GBenign
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 3189358	NM_015058.2(VWA8):c.2473G>A (p.Gly825Arg)	VWA8 (G825R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2271564	NM_015058.2(VWA8):c.2368A>T (p.Ile790Phe)	VWA8 (I790F)	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 2468833	NM_015058.2(VWA8):c.2089G>A (p.Ala697Thr)	VWA8 (A697T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3332486	NM_015058.2(VWA8):c.2006T>C (p.Leu669Pro)	VWA8 (L669P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 617841	NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln)	VWA8 (R668Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 97 +1 more	GBenign/Likely benign
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 3189357	NM_015058.2(VWA8):c.1963G>C (p.Ala655Pro)	VWA8 (A655P)	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 3189356	NM_015058.2(VWA8):c.1649A>G (p.Tyr550Cys)	VWA8 (Y550C)	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 2245158	NM_015058.2(VWA8):c.1552C>T (p.Arg518Trp)	VWA8 (R518W)	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 2362810	NM_015058.2(VWA8):c.1527G>C (p.Lys509Asn)	VWA8 (K509N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332482	NM_015058.2(VWA8):c.1523G>A (p.Gly508Asp)	VWA8 (G508D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788444	NM_015058.2(VWA8):c.1491G>T (p.Arg497=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 151283	GRCh38/hg38 13q14.11(chr13:41859904-42003348)x1	LOC130009636, LOC130009637 +4 more	Copy number loss	See cases	GLikely benign
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 3332487	NM_015058.2(VWA8):c.1358A>G (p.Lys453Arg)	VWA8 (K453R)	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 2205855	NM_015058.2(VWA8):c.1258C>T (p.Arg420Cys)	VWA8 (R420C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747553	NM_015058.2(VWA8):c.1251G>A (p.Ala417=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 788445	NM_015058.2(VWA8):c.1222G>A (p.Gly408Arg)	VWA8 (G408R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3189353	NM_015058.2(VWA8):c.1183C>T (p.Arg395Trp)	VWA8 (R395W)	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 3332483	NM_015058.2(VWA8):c.1114C>T (p.Leu372Phe)	VWA8 (L372F)	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 2329510	NM_015058.2(VWA8):c.970A>G (p.Ile324Val)	VWA8 (I324V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710186	NM_015058.2(VWA8):c.957A>T (p.Ala319=)	VWA8	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2391696	NM_015058.2(VWA8):c.845G>A (p.Gly282Glu)	VWA8 (G282E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332478	NM_015058.2(VWA8):c.662A>G (p.Lys221Arg)	VWA8 (K221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2556512	NM_015058.2(VWA8):c.610C>T (p.Arg204Cys)	VWA8 (R204C)	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 3332485	NM_015058.2(VWA8):c.604G>A (p.Asp202Asn)	VWA8 (D202N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2550363	NM_015058.2(VWA8):c.476T>G (p.Ile159Ser)	VWA8 (I159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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