KIAA1671[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 57499	GRCh38/hg38 22q11.23(chr22:24884631-25299561)x3	CRYBB2, CRYBB3 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148675	GRCh38/hg38 22q11.23-12.1(chr22:24972072-26101385)x3	CRYBB2, CRYBB3 +35 more	Copy number gain	See cases	GLikely benign
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	LOC130067151, LOC130067152 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 2309654	NM_001145206.2(KIAA1671):c.46G>A (p.Val16Met)	KIAA1671 (V16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481123	NM_001145206.2(KIAA1671):c.49C>G (p.Pro17Ala)	KIAA1671 (P17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481124	NM_001145206.2(KIAA1671):c.50C>A (p.Pro17Gln)	KIAA1671 (P17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392550	NM_001145206.2(KIAA1671):c.104A>G (p.Gln35Arg)	KIAA1671 (Q35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284461	NM_001145206.2(KIAA1671):c.245C>T (p.Pro82Leu)	KIAA1671 (P82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460886	NM_001145206.2(KIAA1671):c.386C>G (p.Pro129Arg)	KIAA1671 (P129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379618	NM_001145206.2(KIAA1671):c.436C>T (p.Leu146Phe)	KIAA1671 (L146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405346	NM_001145206.2(KIAA1671):c.454A>C (p.Ser152Arg)	KIAA1671 (S152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349527	NM_001145206.2(KIAA1671):c.463G>A (p.Ala155Thr)	KIAA1671 (A155T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333386	NM_001145206.2(KIAA1671):c.476C>A (p.Ala159Glu)	KIAA1671 (A159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347697	NM_001145206.2(KIAA1671):c.499G>T (p.Ala167Ser)	KIAA1671 (A167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351817	NM_001145206.2(KIAA1671):c.572G>A (p.Gly191Glu)	KIAA1671 (G191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219595	NM_001145206.2(KIAA1671):c.583C>T (p.Arg195Trp)	KIAA1671 (R195W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295200	NM_001145206.2(KIAA1671):c.625C>G (p.Gln209Glu)	KIAA1671 (Q209E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114330	NM_001145206.2(KIAA1671):c.635C>G (p.Ala212Gly)	KIAA1671 (A212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114331	NM_001145206.2(KIAA1671):c.680C>T (p.Thr227Met)	KIAA1671 (T227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455760	NM_001145206.2(KIAA1671):c.775G>C (p.Gly259Arg)	KIAA1671 (G259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653002	NM_001145206.2(KIAA1671):c.864G>A (p.Thr288=)	KIAA1671	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2381260	NM_001145206.2(KIAA1671):c.983A>G (p.Asp328Gly)	KIAA1671 (D328G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381604	NM_001145206.2(KIAA1671):c.1007C>T (p.Pro336Leu)	KIAA1671 (P336L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390223	NM_001145206.2(KIAA1671):c.1121C>T (p.Ser374Leu)	KIAA1671 (S374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217466	NM_001145206.2(KIAA1671):c.1151G>C (p.Ser384Thr)	KIAA1671 (S384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404417	NM_001145206.2(KIAA1671):c.1164A>C (p.Glu388Asp)	KIAA1671 (E388D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355607	NM_001145206.2(KIAA1671):c.1198G>T (p.Ala400Ser)	KIAA1671 (A400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343115	NM_001145206.2(KIAA1671):c.1334G>A (p.Arg445Gln)	KIAA1671 (R445Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337201	NM_001145206.2(KIAA1671):c.1334G>T (p.Arg445Leu)	KIAA1671 (R445L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114305	NM_001145206.2(KIAA1671):c.1373C>T (p.Ser458Phe)	KIAA1671 (S458F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520306	NM_001145206.2(KIAA1671):c.1403C>T (p.Ala468Val)	KIAA1671 (A468V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2653003	NM_001145206.2(KIAA1671):c.1464C>T (p.Ala488=)	KIAA1671	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3114306	NM_001145206.2(KIAA1671):c.1497G>T (p.Arg499Ser)	KIAA1671 (R499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243961	NM_001145206.2(KIAA1671):c.1502C>T (p.Thr501Met)	KIAA1671 (T501M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300260	NM_001145206.2(KIAA1671):c.1612A>G (p.Lys538Glu)	KIAA1671 (K538E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363696	NM_001145206.2(KIAA1671):c.1667C>T (p.Pro556Leu)	KIAA1671 (P556L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382024	NM_001145206.2(KIAA1671):c.1696C>T (p.Arg566Trp)	KIAA1671 (R566W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478642	NM_001145206.2(KIAA1671):c.1704G>T (p.Lys568Asn)	KIAA1671 (K568N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320293	NM_001145206.2(KIAA1671):c.1814G>A (p.Arg605Gln)	KIAA1671 (R605Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288276	NM_001145206.2(KIAA1671):c.1851C>G (p.His617Gln)	KIAA1671 (H617Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359841	NM_001145206.2(KIAA1671):c.1915G>A (p.Asp639Asn)	KIAA1671 (D639N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508608	NM_001145206.2(KIAA1671):c.1928C>T (p.Ala643Val)	KIAA1671 (A643V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403227	NM_001145206.2(KIAA1671):c.1942C>T (p.Pro648Ser)	KIAA1671 (P648S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408959	NM_001145206.2(KIAA1671):c.2042C>T (p.Thr681Met)	KIAA1671 (T681M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284109	NM_001145206.2(KIAA1671):c.2087C>T (p.Pro696Leu)	KIAA1671 (P696L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294014	NM_001145206.2(KIAA1671):c.2092C>T (p.His698Tyr)	KIAA1671 (H698Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493088	NM_001145206.2(KIAA1671):c.2121G>C (p.Leu707Phe)	KIAA1671 (L707F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358912	NM_001145206.2(KIAA1671):c.2129A>G (p.Asn710Ser)	KIAA1671 (N710S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368378	NM_001145206.2(KIAA1671):c.2177C>T (p.Ser726Leu)	KIAA1671 (S726L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279405	NM_001145206.2(KIAA1671):c.2192C>A (p.Pro731His)	KIAA1671 (P731H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259763	NM_001145206.2(KIAA1671):c.2239G>A (p.Ala747Thr)	KIAA1671 (A747T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313804	NM_001145206.2(KIAA1671):c.2240C>A (p.Ala747Asp)	KIAA1671 (A747D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114307	NM_001145206.2(KIAA1671):c.2278C>T (p.Arg760Cys)	KIAA1671 (R760C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492164	NM_001145206.2(KIAA1671):c.2284C>G (p.Leu762Val)	KIAA1671 (L762V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405827	NM_001145206.2(KIAA1671):c.2378T>A (p.Val793Asp)	KIAA1671 (V793D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297001	NM_001145206.2(KIAA1671):c.2635C>T (p.Pro879Ser)	KIAA1671 (P879S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301937	NM_001145206.2(KIAA1671):c.2653G>A (p.Asp885Asn)	KIAA1671 (D885N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517306	NM_001145206.2(KIAA1671):c.2771C>T (p.Pro924Leu)	KIAA1671 (P924L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207906	NM_001145206.2(KIAA1671):c.2774C>T (p.Ala925Val)	KIAA1671 (A925V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367500	NM_001145206.2(KIAA1671):c.2812G>C (p.Gly938Arg)	KIAA1671 (G938R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256653	NM_001145206.2(KIAA1671):c.2860C>G (p.Pro954Ala)	KIAA1671 (P954A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336578	NM_001145206.2(KIAA1671):c.2864A>G (p.Asn955Ser)	KIAA1671 (N955S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380395	NM_001145206.2(KIAA1671):c.2906C>T (p.Ser969Phe)	KIAA1671 (S969F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410480	NM_001145206.2(KIAA1671):c.2942G>A (p.Ser981Asn)	KIAA1671 (S981N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258562	NM_001145206.2(KIAA1671):c.3002A>G (p.Glu1001Gly)	KIAA1671 (E1001G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485489	NM_001145206.2(KIAA1671):c.3004G>T (p.Val1002Leu)	KIAA1671 (V1002L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226684	NM_001145206.2(KIAA1671):c.3009C>G (p.Asn1003Lys)	KIAA1671 (N1003K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514995	NM_001145206.2(KIAA1671):c.3302A>G (p.Lys1101Arg)	KIAA1671 (K1101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360777	NM_001145206.2(KIAA1671):c.3322C>T (p.Arg1108Cys)	KIAA1671 (R1108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380825	NM_001145206.2(KIAA1671):c.3421C>T (p.Arg1141Cys)	KIAA1671 (R1141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244384	NM_001145206.2(KIAA1671):c.3459G>A (p.Met1153Ile)	KIAA1671 (M1153I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369525	NM_001145206.2(KIAA1671):c.3491C>T (p.Pro1164Leu)	KIAA1671 (P1164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536113	NM_001145206.2(KIAA1671):c.3497T>C (p.Leu1166Pro)	KIAA1671 (L1166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263583	NM_001145206.2(KIAA1671):c.3505C>T (p.Arg1169Cys)	KIAA1671 (R1169C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457306	NM_001145206.2(KIAA1671):c.3592G>A (p.Val1198Ile)	KIAA1671 (V1198I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369265	NM_001145206.2(KIAA1671):c.3632T>C (p.Leu1211Pro)	KIAA1671 (L1211P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454463	NM_001145206.2(KIAA1671):c.3668G>A (p.Arg1223Lys)	KIAA1671 (R1223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412087	NM_001145206.2(KIAA1671):c.3679G>A (p.Val1227Met)	KIAA1671 (V1227M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589985	NM_001145206.2(KIAA1671):c.3700C>T (p.Arg1234Trp)	KIAA1671 (R1234W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479779	NM_001145206.2(KIAA1671):c.3708G>T (p.Arg1236Ser)	KIAA1671 (R1236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403853	NM_001145206.2(KIAA1671):c.3724G>C (p.Gly1242Arg)	KIAA1671 (G1242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348625	NM_001145206.2(KIAA1671):c.3724G>A (p.Gly1242Arg)	KIAA1671 (G1242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236893	NM_001145206.2(KIAA1671):c.3734A>G (p.Gln1245Arg)	KIAA1671 (Q1245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114311	NM_001145206.2(KIAA1671):c.3755A>G (p.Glu1252Gly)	KIAA1671 (E1252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114312	NM_001145206.2(KIAA1671):c.3880C>T (p.Pro1294Ser)	KIAA1671 (P1294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242069	NM_001145206.2(KIAA1671):c.3904T>C (p.Ser1302Pro)	KIAA1671 (S1302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279406	NM_001145206.2(KIAA1671):c.3920G>A (p.Arg1307Lys)	KIAA1671 (R1307K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288208	NM_001145206.2(KIAA1671):c.3925C>G (p.Pro1309Ala)	KIAA1671 (P1309A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348350	NM_001145206.2(KIAA1671):c.3929G>T (p.Gly1310Val)	KIAA1671 (G1310V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304335	NM_001145206.2(KIAA1671):c.4016C>T (p.Ala1339Val)	KIAA1671 (A1339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343873	NM_001145206.2(KIAA1671):c.4076G>A (p.Gly1359Glu)	KIAA1671 (G1359E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219569	NM_001145206.2(KIAA1671):c.4111C>G (p.Gln1371Glu)	KIAA1671 (Q1371E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395943	NM_001145206.2(KIAA1671):c.4144C>T (p.Arg1382Trp)	KIAA1671 (R1382W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363679	NM_001145206.2(KIAA1671):c.4205C>T (p.Pro1402Leu)	KIAA1671 (P1402L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465080	NM_001145206.2(KIAA1671):c.4291A>T (p.Arg1431Trp)	KIAA1671 (R1431W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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