AFAP1L2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 58782	GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1	ABLIM1, ACSL5 +308 more	Copy number loss	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 151000	GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1	ABLIM1, ACSL5 +134 more	Copy number loss	See cases	GLikely pathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 146710	GRCh38/hg38 10q25.2-25.3(chr10:112074094-115537174)x1	LOC130004765, LOC130004766 +109 more	Copy number loss	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 3051730	NM_001272046.2(VWA2):c.948C>T (p.Asp316=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 2635682	NM_001272046.2(VWA2):c.959G>A (p.Cys320Tyr)	AFAP1L2, VWA2 (C320Y)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 769372	NM_001272046.2(VWA2):c.993C>T (p.Asn331=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712383	NM_001272046.2(VWA2):c.998-4G>A	AFAP1L2, VWA2	Single nucleotide variant (intron variant)	VWA2-related disorder +1 more	GLikely benign
Select item 769373	NM_001272046.2(VWA2):c.1056G>A (p.Ala352=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778416	NM_001272046.2(VWA2):c.1095C>T (p.Phe365=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774687	NM_001272046.2(VWA2):c.1096G>A (p.Val366Met)	AFAP1L2, VWA2 (V366M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2635809	NM_001272046.2(VWA2):c.1112G>A (p.Arg371Gln)	AFAP1L2, VWA2 (R371Q)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 3051444	NM_001272046.2(VWA2):c.1116C>T (p.Ala372=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 3058012	NM_001272046.2(VWA2):c.1246C>T (p.Arg416Cys)	AFAP1L2, VWA2 (R416C)	Single nucleotide variant (missense variant)	VWA2-related disorder	GLikely benign
Select item 3045576	NM_001272046.2(VWA2):c.1253G>A (p.Gly418Asp)	AFAP1L2, VWA2 (G418D)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 3046717	NM_001272046.2(VWA2):c.1293G>C (p.Glu431Asp)	AFAP1L2, VWA2 (E431D)	Single nucleotide variant (missense variant)	VWA2-related disorder	GLikely benign
Select item 2640861	NM_001272046.2(VWA2):c.1293G>A (p.Glu431=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046505	NM_001272046.2(VWA2):c.1307G>T (p.Ser436Ile)	AFAP1L2, VWA2 (S436I)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 684663	NM_001272046.2(VWA2):c.1336C>T (p.Arg446Cys)	AFAP1L2, VWA2 (R446C)	Single nucleotide variant (missense variant)	Vesicoureteral reflux	GLikely pathogenic
Select item 709107	NM_001272046.2(VWA2):c.1360del (p.Glu454fs)	AFAP1L2, VWA2 (E454fs)	Deletion (frameshift variant)	VWA2-related disorder +1 more	GLikely benign
Select item 3036976	NM_001272046.2(VWA2):c.1365A>C (p.Ser455=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 3049868	NM_001272046.2(VWA2):c.1366C>T (p.His456Tyr)	AFAP1L2, VWA2 (H456Y)	Single nucleotide variant (missense variant)	VWA2-related disorder	GBenign
Select item 3041109	NM_001272046.2(VWA2):c.1395G>A (p.Ala465=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 780912	NM_001272046.2(VWA2):c.1447G>A (p.Val483Met)	AFAP1L2, VWA2 (V483M)	Single nucleotide variant (missense variant)	VWA2-related disorder +1 more	GBenign
Select item 785330	NM_001272046.2(VWA2):c.1486C>T (p.His496Tyr)	AFAP1L2, VWA2 (H496Y)	Single nucleotide variant (missense variant)	VWA2-related disorder +1 more	GBenign
Select item 3031073	NM_001272046.2(VWA2):c.1500C>T (p.Tyr500=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 3029315	NM_001272046.2(VWA2):c.1549C>T (p.Leu517=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 3056283	NM_001272046.2(VWA2):c.1554C>T (p.Cys518=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	VWA2-related disorder	GLikely benign
Select item 716164	NM_001272046.2(VWA2):c.1632C>T (p.Pro544=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3046160	NM_001272046.2(VWA2):c.1708G>T (p.Val570Phe)	AFAP1L2, VWA2 (V570F)	Single nucleotide variant (missense variant)	VWA2-related disorder	GLikely benign
Select item 729720	NM_001272046.2(VWA2):c.1771C>T (p.Arg591Trp)	AFAP1L2, VWA2 (R591W)	Single nucleotide variant (missense variant)	VWA2-related disorder +1 more	GBenign/Likely benign
Select item 3032392	NM_001272046.2(VWA2):c.1778C>T (p.Ala593Val)	AFAP1L2, VWA2 (A593V)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 3060525	NM_001272046.2(VWA2):c.1870G>A (p.Val624Ile)	AFAP1L2, VWA2 (V624I)	Single nucleotide variant (missense variant)	VWA2-related disorder	GUncertain significance
Select item 725234	NM_001272046.2(VWA2):c.1882G>T (p.Ala628Ser)	VWA2, AFAP1L2 (A628S)	Single nucleotide variant (missense variant)	VWA2-related disorder +1 more	GLikely benign
Select item 747819	NM_001272046.2(VWA2):c.1923C>G (p.Gly641=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039596	NM_001272046.2(VWA2):c.1924G>A (p.Gly642Arg)	AFAP1L2, VWA2 (G642R)	Single nucleotide variant (missense variant)	VWA2-related disorder	GBenign
Select item 716934	NM_001272046.2(VWA2):c.1933G>A (p.Ala645Thr)	VWA2, AFAP1L2 (A645T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3037467	NM_001272046.2(VWA2):c.2027_2035dup (p.Leu678_Ala679insGlyArgLeu)	AFAP1L2, VWA2	Duplication (inframe insertion)	VWA2-related disorder	GLikely benign
Select item 774564	NM_001272046.2(VWA2):c.2044C>T (p.Arg682Trp)	AFAP1L2, VWA2 (R682W)	Single nucleotide variant (missense variant)	VWA2-related disorder +1 more	GBenign
Select item 714488	NM_001272046.2(VWA2):c.2073C>T (p.Tyr691=)	AFAP1L2, VWA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2672418	NM_001272046.2(VWA2):c.2143C>T (p.Leu715Phe)	AFAP1L2, VWA2 (L715F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780141	NM_001272046.2(VWA2):c.2182G>C (p.Val728Leu)	AFAP1L2, VWA2 (V728L)	Single nucleotide variant (missense variant)	VWA2-related disorder +1 more	GBenign/Likely benign
Select item 3067187	NM_001272046.2(VWA2):c.2204G>A (p.Arg735His)	AFAP1L2, VWA2 (R735H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2241785	NM_001001936.3(AFAP1L2):c.2447G>A (p.Gly816Glu)	AFAP1L2 (G761E +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092018	NM_001001936.3(AFAP1L2):c.2392G>A (p.Val798Met)	AFAP1L2 (V737M +19 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2306444	NM_001001936.3(AFAP1L2):c.2387C>T (p.Ser796Leu)	AFAP1L2 (S737L +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568762	NM_001001936.3(AFAP1L2):c.2372A>G (p.Lys791Arg)	AFAP1L2 (K732R +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230800	NM_001001936.3(AFAP1L2):c.2338G>T (p.Asp780Tyr)	AFAP1L2 (D697Y +19 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640862	NM_001001936.3(AFAP1L2):c.2286C>T (p.His762=)	AFAP1L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2465497	NM_001001936.3(AFAP1L2):c.2284C>A (p.His762Asn)	AFAP1L2 (H761N +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616654	NM_001001936.3(AFAP1L2):c.2269A>G (p.Thr757Ala)	AFAP1L2 (T674A +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288546	NM_001001936.3(AFAP1L2):c.2252C>T (p.Pro751Leu)	AFAP1L2 (P694L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535835	NM_001001936.3(AFAP1L2):c.2238G>C (p.Lys746Asn)	AFAP1L2 (K718N +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510201	NM_001001936.3(AFAP1L2):c.2237A>G (p.Lys746Arg)	AFAP1L2 (K690R +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773541	NM_001001936.3(AFAP1L2):c.2190C>T (p.Arg730=)	AFAP1L2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3091986	NM_001001936.3(AFAP1L2):c.2188C>T (p.Arg730Cys)	AFAP1L2 (R674C +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209702	NM_001001936.3(AFAP1L2):c.2176G>A (p.Glu726Lys)	AFAP1L2 (E643K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091976	NM_001001936.3(AFAP1L2):c.2170C>T (p.Arg724Trp)	AFAP1L2 (R641W +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402582	NM_001001936.3(AFAP1L2):c.2161G>A (p.Glu721Lys)	AFAP1L2 (E739K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622897	NM_001001936.3(AFAP1L2):c.2138A>G (p.Glu713Gly)	AFAP1L2 (E685G +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366255	NM_001001936.3(AFAP1L2):c.2129C>T (p.Ala710Val)	AFAP1L2 (A653V +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369236	NM_001001936.3(AFAP1L2):c.1943G>A (p.Arg648His)	AFAP1L2 (R565H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640863	NM_001001936.3(AFAP1L2):c.1905C>G (p.Thr635=)	AFAP1L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2515395	NM_001001936.3(AFAP1L2):c.1837G>A (p.Val613Ile)	AFAP1L2 (V530I +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463529	NM_001001936.3(AFAP1L2):c.1795G>A (p.Glu599Lys)	AFAP1L2 (E543K +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455670	NM_001001936.3(AFAP1L2):c.1682C>G (p.Thr561Arg)	AFAP1L2 (T505R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520465	NM_001001936.3(AFAP1L2):c.1678C>T (p.Pro560Ser)	AFAP1L2 (P504S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341504	NM_001001936.3(AFAP1L2):c.1655G>A (p.Ser552Asn)	AFAP1L2 (S496N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342443	NM_001001936.3(AFAP1L2):c.1627G>A (p.Val543Ile)	AFAP1L2 (V561I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713983	NM_001001936.3(AFAP1L2):c.1590G>A (p.Glu530=)	AFAP1L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3091943	NM_001001936.3(AFAP1L2):c.1586A>C (p.Asn529Thr)	AFAP1L2 (N501T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391344	NM_001001936.3(AFAP1L2):c.1493G>A (p.Arg498His)	AFAP1L2 (R516H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396438	NM_001001936.3(AFAP1L2):c.1492C>T (p.Arg498Cys)	AFAP1L2 (R498C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255933	NM_001001936.3(AFAP1L2):c.1487A>T (p.Gln496Leu)	AFAP1L2 (Q549L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527004	NM_001001936.3(AFAP1L2):c.1481C>T (p.Pro494Leu)	AFAP1L2 (P438L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091934	NM_001001936.3(AFAP1L2):c.1446G>T (p.Lys482Asn)	AFAP1L2 (K426N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218419	NM_001001936.3(AFAP1L2):c.1387G>A (p.Asp463Asn)	AFAP1L2 (D516N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210709	NM_001001936.3(AFAP1L2):c.1297G>A (p.Glu433Lys)	AFAP1L2 (E486K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091920	NM_001001936.3(AFAP1L2):c.1206G>T (p.Glu402Asp)	AFAP1L2 (E374D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091915	NM_001001936.3(AFAP1L2):c.1195G>A (p.Val399Met)	AFAP1L2 (V371M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624308	NM_001001936.3(AFAP1L2):c.1156C>T (p.Arg386Trp)	AFAP1L2 (R330W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371928	NM_001001936.3(AFAP1L2):c.1063G>A (p.Glu355Lys)	AFAP1L2 (E299K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640864	NM_001001936.3(AFAP1L2):c.1056G>A (p.Arg352=)	AFAP1L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091903	NM_001001936.3(AFAP1L2):c.1010T>A (p.Met337Lys)	AFAP1L2 (M355K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530349	NM_001001936.3(AFAP1L2):c.1005C>A (p.Asn335Lys)	AFAP1L2 (N353K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490914	NM_001001936.3(AFAP1L2):c.958A>G (p.Thr320Ala)	AFAP1L2 (T264A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274683	NM_001001936.3(AFAP1L2):c.890T>C (p.Ile297Thr)	AFAP1L2 (I350T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214347	NM_001001936.3(AFAP1L2):c.886G>A (p.Asp296Asn)	AFAP1L2 (D314N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092087	NM_001001936.3(AFAP1L2):c.866G>A (p.Arg289His)	AFAP1L2 (R289H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555799	NM_001001936.3(AFAP1L2):c.830C>T (p.Ala277Val)	AFAP1L2 (A249V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307376	NM_001001936.3(AFAP1L2):c.731T>C (p.Met244Thr)	AFAP1L2 (M297T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092073	NM_001001936.3(AFAP1L2):c.538G>A (p.Ala180Thr)	AFAP1L2 (A152T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604096	NM_001001936.3(AFAP1L2):c.530G>A (p.Arg177His)	AFAP1L2 (R121H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404163	NM_001001936.3(AFAP1L2):c.529C>T (p.Arg177Cys)	AFAP1L2 (R149C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345414	NM_001001936.3(AFAP1L2):c.526G>A (p.Ala176Thr)	AFAP1L2 (A148T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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