KIAA0319L[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 3114073	NM_024874.5(KIAA0319L):c.3128G>A (p.Ser1043Asn)	KIAA0319L (S1043N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478054	NM_024874.5(KIAA0319L):c.3079G>A (p.Gly1027Ser)	KIAA0319L (G1027S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211323	NM_024874.5(KIAA0319L):c.3020T>C (p.Leu1007Pro)	KIAA0319L (L1007P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288074	NM_024874.5(KIAA0319L):c.3010G>A (p.Glu1004Lys)	KIAA0319L (E1004K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539116	NM_024874.5(KIAA0319L):c.2966T>G (p.Ile989Ser)	KIAA0319L (I989S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786460	NM_024874.5(KIAA0319L):c.2922G>A (p.Thr974=)	KIAA0319L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2276259	NM_024874.5(KIAA0319L):c.2900A>C (p.Lys967Thr)	KIAA0319L (K967T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332148	NM_024874.5(KIAA0319L):c.2812T>G (p.Phe938Val)	KIAA0319L (F938V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352304	NM_024874.5(KIAA0319L):c.2581G>A (p.Ala861Thr)	KIAA0319L (A861T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114072	NM_024874.5(KIAA0319L):c.2557A>G (p.Ile853Val)	KIAA0319L (I853V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492563	NM_024874.5(KIAA0319L):c.2490G>C (p.Lys830Asn)	KIAA0319L (K830N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238358	NM_024874.5(KIAA0319L):c.2444T>C (p.Ile815Thr)	KIAA0319L (I815T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711665	NM_024874.5(KIAA0319L):c.2329C>T (p.Arg777Trp)	KIAA0319L (R777W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2259528	NM_024874.5(KIAA0319L):c.2273G>T (p.Gly758Val)	KIAA0319L (G758V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288076	NM_024874.5(KIAA0319L):c.2194G>A (p.Glu732Lys)	KIAA0319L (E732K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464904	NM_024874.5(KIAA0319L):c.2185A>G (p.Thr729Ala)	KIAA0319L (T729A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 772679	NM_024874.5(KIAA0319L):c.2109T>A (p.Ile703=)	KIAA0319L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3114071	NM_024874.5(KIAA0319L):c.2038T>C (p.Ser680Pro)	KIAA0319L (S680P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288075	NM_024874.5(KIAA0319L):c.1949G>A (p.Ser650Asn)	KIAA0319L (S650N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465953	NM_024874.5(KIAA0319L):c.1936G>A (p.Glu646Lys)	KIAA0319L (E646K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346818	NM_024874.5(KIAA0319L):c.1906A>G (p.Lys636Glu)	KIAA0319L (K636E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552628	NM_024874.5(KIAA0319L):c.1897C>T (p.Leu633Phe)	KIAA0319L (L633F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410750	NM_024874.5(KIAA0319L):c.1751C>G (p.Thr584Ser)	KIAA0319L (T584S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114069	NM_024874.5(KIAA0319L):c.1681C>T (p.Leu561Phe)	KIAA0319L (L561F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288077	NM_024874.5(KIAA0319L):c.1535T>C (p.Val512Ala)	KIAA0319L (V512A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114068	NM_024874.5(KIAA0319L):c.1504C>G (p.Pro502Ala)	KIAA0319L (P502A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780233	NM_024874.5(KIAA0319L):c.1295-3A>T	KIAA0319L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780234	NM_024874.5(KIAA0319L):c.1295-4C>T	KIAA0319L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780235	NM_024874.5(KIAA0319L):c.1295-10T>C	KIAA0319L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3114067	NM_024874.5(KIAA0319L):c.1225A>T (p.Ile409Phe)	KIAA0319L (I409F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612890	NM_024874.5(KIAA0319L):c.1178A>G (p.Tyr393Cys)	KIAA0319L (Y393C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740235	NM_024874.5(KIAA0319L):c.1110G>A (p.Ser370=)	KIAA0319L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309546	NM_024874.5(KIAA0319L):c.1088A>T (p.His363Leu)	KIAA0319L (H363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556242	NM_024874.5(KIAA0319L):c.1051C>T (p.His351Tyr)	KIAA0319L (H351Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353123	NM_024874.5(KIAA0319L):c.1033G>A (p.Asp345Asn)	KIAA0319L (D345N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638645	NM_024874.5(KIAA0319L):c.924A>C (p.Glu308Asp)	KIAA0319L (E308D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3114081	NM_024874.5(KIAA0319L):c.907T>C (p.Tyr303His)	KIAA0319L (Y303H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114080	NM_024874.5(KIAA0319L):c.877C>G (p.Gln293Glu)	KIAA0319L (Q293E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782936	NM_024874.5(KIAA0319L):c.871A>G (p.Thr291Ala)	KIAA0319L (T291A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2593772	NM_024874.5(KIAA0319L):c.782C>T (p.Thr261Met)	KIAA0319L (T261M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 738896	NM_024874.5(KIAA0319L):c.775G>A (p.Ala259Thr)	KIAA0319L (A259T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3114079	NM_024874.5(KIAA0319L):c.742G>A (p.Val248Ile)	KIAA0319L (V248I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 773634	NM_024874.5(KIAA0319L):c.728G>A (p.Gly243Asp)	KIAA0319L (G243D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3114078	NM_024874.5(KIAA0319L):c.706G>T (p.Asp236Tyr)	KIAA0319L (D236Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773635	NM_024874.5(KIAA0319L):c.700A>G (p.Thr234Ala)	KIAA0319L (T234A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 769508	NM_024874.5(KIAA0319L):c.630C>T (p.Asn210=)	KIAA0319L	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2320906	NM_024874.5(KIAA0319L):c.622G>T (p.Asp208Tyr)	KIAA0319L (D208Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114077	NM_024874.5(KIAA0319L):c.602C>T (p.Thr201Ile)	KIAA0319L (T201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114076	NM_024874.5(KIAA0319L):c.583G>A (p.Val195Ile)	KIAA0319L (V195I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546824	NM_024874.5(KIAA0319L):c.496C>T (p.Pro166Ser)	KIAA0319L (P166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114075	NM_024874.5(KIAA0319L):c.375T>A (p.Asn125Lys)	KIAA0319L (N125K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537732	NM_024874.5(KIAA0319L):c.366C>G (p.His122Gln)	KIAA0319L (H122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288073	NM_024874.5(KIAA0319L):c.350G>A (p.Arg117Gln)	KIAA0319L (R117Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114074	NM_024874.5(KIAA0319L):c.349C>T (p.Arg117Trp)	KIAA0319L (R117W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477982	NM_024874.5(KIAA0319L):c.316A>G (p.Ile106Val)	KIAA0319L (I106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594960	NM_024874.5(KIAA0319L):c.308G>A (p.Gly103Glu)	KIAA0319L (G103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738897	NM_024874.5(KIAA0319L):c.270C>T (p.Cys90=)	KIAA0319L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2511381	NM_024874.5(KIAA0319L):c.220T>C (p.Trp74Arg)	KIAA0319L (W74R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2248582	NM_024874.5(KIAA0319L):c.116G>T (p.Cys39Phe)	KIAA0319L (C39F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114070	NM_024874.5(KIAA0319L):c.16G>A (p.Gly6Arg)	KIAA0319L (G6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526893	GRCh37/hg19 1p34.3(chr1:35950860-36635695)	ADPRS, AGO1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1526873	GRCh37/hg19 1p34.3(chr1:35950860-36465764)	AGO1, AGO3 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 806420	GRCh37/hg19 1p34.3(chr1:35321300-35944813)x1	DLGAP3, KIAA0319L +6 more	Copy number loss	not provided	GUncertain significance
Select item 686407	GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3	DLGAP3, GJA4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic

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Items: 75