KIAA0319[gene] and "single gene"[properties] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039730	NM_014809.4(KIAA0319):c.*4C>T	KIAA0319	Single nucleotide variant (3 prime UTR variant)	KIAA0319-related disorder	GLikely benign
Select item 2512111	NM_014809.4(KIAA0319):c.3182A>G (p.Asn1061Ser)	KIAA0319 (N1016S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611941	NM_014809.4(KIAA0319):c.3085T>A (p.Ser1029Thr)	KIAA0319 (S1029T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288060	NM_014809.4(KIAA0319):c.3053G>A (p.Arg1018Gln)	KIAA0319 (R1009Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234436	NM_014809.4(KIAA0319):c.3052C>A (p.Arg1018=)	KIAA0319	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3060890	NM_014809.4(KIAA0319):c.3038A>G (p.Tyr1013Cys)	KIAA0319 (Y1004C +6 more)	Single nucleotide variant (missense variant +2 more)	KIAA0319-related disorder	GBenign
Select item 2270027	NM_014809.4(KIAA0319):c.3034A>G (p.Lys1012Glu)	KIAA0319 (K1012E +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3059378	NM_014809.4(KIAA0319):c.2973A>G (p.Lys991=)	KIAA0319 (K961R)	Single nucleotide variant (synonymous variant +2 more)	KIAA0319-related disorder	GBenign
Select item 3060264	NM_014809.4(KIAA0319):c.2948+7A>G	KIAA0319	Single nucleotide variant (intron variant)	KIAA0319-related disorder	GBenign
Select item 2279305	NM_014809.4(KIAA0319):c.2833A>G (p.Ile945Val)	KIAA0319 (I356V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288066	NM_014809.4(KIAA0319):c.2786G>A (p.Arg929His)	KIAA0319 (R340H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114059	NM_014809.4(KIAA0319):c.2759A>G (p.His920Arg)	KIAA0319 (H768R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707909	NM_014809.4(KIAA0319):c.2756G>C (p.Gly919Ala)	KIAA0319 (G910A +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3036021	NM_014809.4(KIAA0319):c.2734+3A>G	KIAA0319	Single nucleotide variant (intron variant)	KIAA0319-related disorder	GLikely benign
Select item 2289452	NM_014809.4(KIAA0319):c.2695G>C (p.Asp899His)	KIAA0319 (D890H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060711	NM_014809.4(KIAA0319):c.2694T>C (p.Ala898=)	KIAA0319	Single nucleotide variant (synonymous variant)	KIAA0319-related disorder	GBenign
Select item 2602783	NM_014809.4(KIAA0319):c.2690A>G (p.Lys897Arg)	KIAA0319 (K864R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288063	NM_014809.4(KIAA0319):c.2673G>C (p.Met891Ile)	KIAA0319 (M846I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288064	NM_014809.4(KIAA0319):c.2619C>A (p.Ser873Arg)	KIAA0319 (S840R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244027	NM_014809.4(KIAA0319):c.2582C>T (p.Ser861Leu)	KIAA0319 (S709L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242004	NM_014809.4(KIAA0319):c.2572C>T (p.Arg858Trp)	KIAA0319 (R858W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288071	NM_014809.4(KIAA0319):c.2554A>G (p.Ile852Val)	KIAA0319 (I263V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114057	NM_014809.4(KIAA0319):c.2539G>A (p.Val847Met)	KIAA0319 (V814M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485773	NM_014809.4(KIAA0319):c.2477T>C (p.Val826Ala)	KIAA0319 (V237A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208860	NM_014809.4(KIAA0319):c.2458C>G (p.Leu820Val)	KIAA0319 (L231V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284624	NM_014809.4(KIAA0319):c.2447G>A (p.Gly816Asp)	KIAA0319 (G783D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511264	NM_014809.4(KIAA0319):c.2396C>T (p.Ser799Leu)	KIAA0319 (S793L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332552	NM_014809.4(KIAA0319):c.2384G>A (p.Ser795Asn)	KIAA0319 (S643N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114056	NM_014809.4(KIAA0319):c.2254T>C (p.Tyr752His)	KIAA0319 (Y719H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558524	NM_014809.4(KIAA0319):c.2243G>T (p.Arg748Ile)	KIAA0319 (R159I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288072	NM_014809.4(KIAA0319):c.2235T>G (p.Asp745Glu)	KIAA0319 (D156E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590157	NM_014809.4(KIAA0319):c.2212T>A (p.Leu738Met)	KIAA0319 (L149M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114055	NM_014809.4(KIAA0319):c.2171G>A (p.Gly724Asp)	KIAA0319 (G679D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114054	NM_014809.4(KIAA0319):c.2165G>A (p.Arg722Gln)	KIAA0319 (R133Q +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3042107	NM_014809.4(KIAA0319):c.2164C>T (p.Arg722Trp)	KIAA0319 (R133W +6 more)	Single nucleotide variant (missense variant)	KIAA0319-related disorder	GLikely benign
Select item 2518880	NM_014809.4(KIAA0319):c.2153C>A (p.Pro718His)	KIAA0319 (P685H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717701	NM_014809.4(KIAA0319):c.2108G>A (p.Ser703Asn)	KIAA0319 (S694N +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3288069	NM_014809.4(KIAA0319):c.2074C>T (p.Arg692Cys)	KIAA0319 (R540C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656286	NM_014809.4(KIAA0319):c.1971C>T (p.Phe657=)	KIAA0319	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039025	NM_014809.4(KIAA0319):c.1768A>G (p.Met590Val)	KIAA0319 (M438V +5 more)	Single nucleotide variant (missense variant +1 more)	KIAA0319-related disorder	GLikely benign
Select item 3114053	NM_014809.4(KIAA0319):c.1729A>C (p.Met577Leu)	KIAA0319 (M544L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540059	NM_014809.4(KIAA0319):c.1636A>G (p.Ile546Val)	KIAA0319 (I501V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482002	NM_014809.4(KIAA0319):c.1631A>T (p.Asn544Ile)	KIAA0319 (N511I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568979	NM_014809.4(KIAA0319):c.1559T>A (p.Ile520Lys)	KIAA0319 (I487K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784065	NM_014809.4(KIAA0319):c.1545A>G (p.Thr515=)	KIAA0319	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2384040	NM_014809.4(KIAA0319):c.1523C>T (p.Ser508Leu)	KIAA0319 (S499L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488113	NM_014809.4(KIAA0319):c.1516A>G (p.Thr506Ala)	KIAA0319 (T354A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114052	NM_014809.4(KIAA0319):c.1433T>C (p.Ile478Thr)	KIAA0319 (I433T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288061	NM_014809.4(KIAA0319):c.1423G>A (p.Gly475Arg)	KIAA0319 (G442R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319861	NM_014809.4(KIAA0319):c.1396G>A (p.Val466Met)	KIAA0319 (V457M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784066	NM_014809.4(KIAA0319):c.1361T>C (p.Ile454Thr)	KIAA0319 (I421T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2208978	NM_014809.4(KIAA0319):c.1354G>C (p.Ala452Pro)	KIAA0319 (A300P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049337	NM_014809.4(KIAA0319):c.1332G>A (p.Glu444=)	KIAA0319	Single nucleotide variant (synonymous variant +1 more)	KIAA0319-related disorder	GLikely benign
Select item 3114051	NM_014809.4(KIAA0319):c.1270G>A (p.Val424Ile)	KIAA0319 (V418I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244115	NM_014809.4(KIAA0319):c.1263T>G (p.Asn421Lys)	KIAA0319 (N388K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407896	NM_014809.4(KIAA0319):c.1246G>A (p.Gly416Arg)	KIAA0319 (G264R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114050	NM_014809.4(KIAA0319):c.1219G>A (p.Val407Ile)	KIAA0319 (V255I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114049	NM_014809.4(KIAA0319):c.1187C>G (p.Ser396Cys)	KIAA0319 (S244C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114048	NM_014809.4(KIAA0319):c.1166A>G (p.His389Arg)	KIAA0319 (H237R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295815	NM_014809.4(KIAA0319):c.1082C>T (p.Ala361Val)	KIAA0319 (A209V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598958	NM_014809.4(KIAA0319):c.1075G>A (p.Ala359Thr)	KIAA0319 (A207T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051538	NM_014809.4(KIAA0319):c.1066G>A (p.Ala356Thr)	KIAA0319 (A204T +4 more)	Single nucleotide variant (missense variant +1 more)	KIAA0319-related disorder	GLikely benign
Select item 3057609	NM_014809.4(KIAA0319):c.1044C>T (p.Pro348=)	KIAA0319	Single nucleotide variant (synonymous variant +1 more)	KIAA0319-related disorder	GLikely benign
Select item 2254976	NM_014809.4(KIAA0319):c.1031T>C (p.Ile344Thr)	KIAA0319 (I335T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344078	NM_014809.4(KIAA0319):c.1007C>T (p.Thr336Met)	KIAA0319 (T291M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2369194	NM_014809.4(KIAA0319):c.977C>A (p.Thr326Asn)	KIAA0319 (T317N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056331	NM_014809.4(KIAA0319):c.931G>A (p.Ala311Thr)	KIAA0319 (A159T +4 more)	Single nucleotide variant (missense variant)	KIAA0319-related disorder	GBenign
Select item 3114065	NM_014809.4(KIAA0319):c.884T>A (p.Val295Asp)	KIAA0319 (V295D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219190	NM_014809.4(KIAA0319):c.859G>A (p.Val287Met)	KIAA0319 (V278M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114064	NM_014809.4(KIAA0319):c.830C>T (p.Pro277Leu)	KIAA0319 (P268L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791140	NM_014809.4(KIAA0319):c.790T>A (p.Ser264Thr)	KIAA0319 (S112T +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3114063	NM_014809.4(KIAA0319):c.772G>C (p.Glu258Gln)	KIAA0319 (E106Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244455	NM_014809.4(KIAA0319):c.694A>G (p.Arg232Gly)	KIAA0319 (R80G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369597	NM_014809.4(KIAA0319):c.626C>T (p.Thr209Met)	KIAA0319 (T200M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480019	NM_014809.4(KIAA0319):c.620C>T (p.Ala207Val)	KIAA0319 (A162V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114062	NM_014809.4(KIAA0319):c.587A>G (p.Asn196Ser)	KIAA0319 (N151S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049041	NM_014809.4(KIAA0319):c.541G>A (p.Glu181Lys)	KIAA0319 (E136K +4 more)	Single nucleotide variant (missense variant)	KIAA0319-related disorder	GLikely benign
Select item 3288070	NM_014809.4(KIAA0319):c.523G>C (p.Glu175Gln)	KIAA0319 (E130Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059261	NM_014809.4(KIAA0319):c.424A>C (p.Thr142Pro)	KIAA0319 (T133P +3 more)	Single nucleotide variant (missense variant +1 more)	KIAA0319-related disorder	GBenign
Select item 2363052	NM_014809.4(KIAA0319):c.380C>T (p.Ser127Leu)	KIAA0319 (S121L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714309	NM_014809.4(KIAA0319):c.366C>T (p.Asn122=)	KIAA0319	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2402523	NM_014809.4(KIAA0319):c.352G>T (p.Asp118Tyr)	KIAA0319 (D112Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114060	NM_014809.4(KIAA0319):c.314G>A (p.Arg105Gln)	KIAA0319 (R96Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509740	NM_014809.4(KIAA0319):c.313C>T (p.Arg105Trp)	KIAA0319 (R99W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266807	NM_014809.4(KIAA0319):c.284C>G (p.Pro95Arg)	KIAA0319 (P95R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547369	NM_014809.4(KIAA0319):c.253A>G (p.Lys85Glu)	KIAA0319 (K79E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536884	NM_014809.4(KIAA0319):c.227G>A (p.Arg76His)	KIAA0319 (R76H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3288065	NM_014809.4(KIAA0319):c.178G>A (p.Ala60Thr)	KIAA0319 (A60T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288067	NM_014809.4(KIAA0319):c.173C>T (p.Thr58Met)	KIAA0319 (T58M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288062	NM_014809.4(KIAA0319):c.163G>A (p.Val55Ile)	KIAA0319 (V10I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3050380	NM_014809.4(KIAA0319):c.55+398G>T	KIAA0319	Single nucleotide variant (5 prime UTR variant +1 more)	KIAA0319-related disorder	GLikely benign
Select item 1808217	GRCh37/hg19 6p22.3(chr6:24545307-24611097)x1	KIAA0319	Copy number loss	not provided	GUncertain significance

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Items: 92