29530[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 58434	GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3	ADCK5, ARHGAP39 +47 more	Copy number gain	See cases	GUncertain significance
Select item 2396642	NM_001369769.2(KIFC2):c.11T>G (p.Phe4Cys)	KIFC2, LOC130001404 +1 more (F4C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3288691	NM_001369769.2(KIFC2):c.17C>G (p.Ser6Trp)	KIFC2, LOC130001404 +1 more (S6W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 782144	NM_001369769.2(KIFC2):c.24C>T (p.Leu8=)	KIFC2, LOC130001404 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2623156	NM_001369769.2(KIFC2):c.42C>A (p.Ser14Arg)	KIFC2, LOC130001404 +1 more (S14R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3288690	NM_001369769.2(KIFC2):c.54G>C (p.Arg18Ser)	KIFC2, LOC130001404 +1 more (R18S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2411396	NM_001369769.2(KIFC2):c.81G>C (p.Glu27Asp)	KIFC2, LOC130001404 +1 more (E27D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2411917	NM_001369769.2(KIFC2):c.109A>C (p.Lys37Gln)	KIFC2, TMEM276 (K37Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2519542	NM_001369769.2(KIFC2):c.179C>T (p.Ala60Val)	KIFC2, TMEM276 (A60V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3115049	NM_001369769.2(KIFC2):c.181A>G (p.Ser61Gly)	KIFC2, TMEM276 (S61G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3115051	NM_001369769.2(KIFC2):c.190C>T (p.Pro64Ser)	KIFC2, TMEM276 (P64S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2360601	NM_001369769.2(KIFC2):c.196G>A (p.Asp66Asn)	KIFC2, TMEM276 (D66N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3115054	NM_001369769.2(KIFC2):c.314C>T (p.Pro105Leu)	KIFC2 (P105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115055	NM_001369769.2(KIFC2):c.358G>A (p.Val120Met)	KIFC2 (V120M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278737	NM_001369769.2(KIFC2):c.422T>C (p.Leu141Pro)	KIFC2 (L141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288684	NM_001369769.2(KIFC2):c.454C>T (p.Pro152Ser)	KIFC2 (P152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288686	NM_001369769.2(KIFC2):c.455C>T (p.Pro152Leu)	KIFC2 (P152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549709	NM_001369769.2(KIFC2):c.473C>T (p.Ser158Phe)	KIFC2 (S158F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115056	NM_001369769.2(KIFC2):c.493C>T (p.Pro165Ser)	KIFC2 (P165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459283	NM_001369769.2(KIFC2):c.515C>T (p.Pro172Leu)	KIFC2 (P172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606787	NM_001369769.2(KIFC2):c.545G>A (p.Gly182Glu)	KIFC2 (G182E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325110	NM_001369769.2(KIFC2):c.578G>A (p.Arg193Lys)	KIFC2 (R193K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658986	NM_001369769.2(KIFC2):c.600G>T (p.Gln200His)	KIFC2 (Q200H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658987	NM_001369769.2(KIFC2):c.604A>T (p.Ile202Phe)	KIFC2 (I202F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3115057	NM_001369769.2(KIFC2):c.787G>A (p.Gly263Arg)	KIFC2 (G263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491125	NM_001369769.2(KIFC2):c.823G>T (p.Ala275Ser)	KIFC2 (A275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393899	NM_001369769.2(KIFC2):c.872A>T (p.Glu291Val)	KIFC2 (E291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384316	NM_001369769.2(KIFC2):c.953C>T (p.Thr318Met)	KIFC2 (T318M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115058	NM_001369769.2(KIFC2):c.971G>A (p.Arg324His)	KIFC2 (R324H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115041	NM_001369769.2(KIFC2):c.1091C>T (p.Ser364Leu)	KIFC2 (S364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152001	GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3	ARHGAP39, C8orf82 +21 more	Copy number gain	See cases	GBenign
Select item 3288693	NM_001369769.2(KIFC2):c.1166C>T (p.Pro389Leu)	KIFC2 (P389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246808	NM_001369769.2(KIFC2):c.1171G>A (p.Gly391Arg)	KIFC2 (G391R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217133	NM_001369769.2(KIFC2):c.1180G>C (p.Gly394Arg)	KIFC2 (G394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600767	NM_001369769.2(KIFC2):c.1193G>C (p.Gly398Ala)	KIFC2 (G398A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557025	NM_001369769.2(KIFC2):c.1229T>C (p.Ile410Thr)	KIFC2 (I410T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658988	NM_001369769.2(KIFC2):c.1237C>T (p.Leu413=)	KIFC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3115042	NM_001369769.2(KIFC2):c.1259C>G (p.Thr420Arg)	KIFC2 (T420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590914	NM_001369769.2(KIFC2):c.1262C>T (p.Ser421Phe)	KIFC2 (S421F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401053	NM_001369769.2(KIFC2):c.1276A>C (p.Ser426Arg)	KIFC2 (S426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115043	NM_001369769.2(KIFC2):c.1277G>A (p.Ser426Asn)	KIFC2 (S426N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115044	NM_001369769.2(KIFC2):c.1322G>A (p.Gly441Glu)	KIFC2 (G441E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115045	NM_001369769.2(KIFC2):c.1340G>A (p.Arg447His)	KIFC2 (R447H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291951	NM_001369769.2(KIFC2):c.1367C>T (p.Ala456Val)	KIFC2 (A456V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115046	NM_001369769.2(KIFC2):c.1438A>G (p.Ile480Val)	KIFC2 (I480V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658989	NM_001369769.2(KIFC2):c.1464C>T (p.Thr488=)	KIFC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2237506	NM_001369769.2(KIFC2):c.1492C>G (p.Pro498Ala)	KIFC2 (P498A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620145	NM_001369769.2(KIFC2):c.1520C>T (p.Ala507Val)	KIFC2 (A507V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612421	NM_001369769.2(KIFC2):c.1529C>T (p.Ser510Leu)	KIFC2 (S510L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595871	NM_001369769.2(KIFC2):c.1537C>T (p.Arg513Trp)	KIFC2 (R513W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391213	NM_001369769.2(KIFC2):c.1564C>T (p.Arg522Trp)	KIFC2 (R522W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115048	NM_001369769.2(KIFC2):c.1627C>A (p.Pro543Thr)	KIFC2 (P543T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517121	NM_001369769.2(KIFC2):c.1633G>C (p.Glu545Gln)	KIFC2 (E545Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601999	NM_001369769.2(KIFC2):c.1655G>T (p.Gly552Val)	KIFC2 (G552V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527453	NM_001369769.2(KIFC2):c.1657C>G (p.Pro553Ala)	KIFC2 (P553A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408306	NM_001369769.2(KIFC2):c.1726C>T (p.His576Tyr)	KIFC2, LOC130001405 (H576Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265428	NM_001369769.2(KIFC2):c.1756C>T (p.Arg586Trp)	KIFC2 (R586W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518104	NM_001369769.2(KIFC2):c.1759G>T (p.Ala587Ser)	KIFC2 (A587S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331177	NM_001369769.2(KIFC2):c.1820C>T (p.Thr607Met)	KIFC2 (T607M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490951	NM_001369769.2(KIFC2):c.1843C>G (p.Arg615Gly)	KIFC2 (R615G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491820	NM_001369769.2(KIFC2):c.1844G>A (p.Arg615His)	KIFC2 (R615H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236372	NM_001369769.2(KIFC2):c.1858G>A (p.Ala620Thr)	KIFC2 (A620T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115050	NM_001369769.2(KIFC2):c.1876G>A (p.Val626Met)	KIFC2 (V626M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460343	NM_001369769.2(KIFC2):c.1904G>T (p.Arg635Leu)	KIFC2 (R635L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354272	NM_001369769.2(KIFC2):c.1971G>C (p.Gln657His)	KIFC2 (Q657H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517706	NM_001369769.2(KIFC2):c.2002G>A (p.Gly668Ser)	KIFC2 (G668S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509003	NM_001369769.2(KIFC2):c.2028C>A (p.His676Gln)	KIFC2 (H676Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288692	NM_001369769.2(KIFC2):c.2032C>G (p.Pro678Ala)	KIFC2 (P678A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536637	NM_001369769.2(KIFC2):c.2033C>G (p.Pro678Arg)	KIFC2 (P678R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658990	NM_001369769.2(KIFC2):c.2082G>A (p.Ala694=)	KIFC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2280172	NM_001369769.2(KIFC2):c.2118+34C>T	KIFC2 (R718W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288685	NM_001369769.2(KIFC2):c.2119-31G>C	KIFC2 (R723P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383669	NM_001369769.2(KIFC2):c.2241T>G (p.Pro747=)	KIFC2 (L774R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3115052	NM_001369769.2(KIFC2):c.2276C>T (p.Thr759Ile)	KIFC2 (P786S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 692244	NM_001369769.2(KIFC2):c.2280_2282delinsTTC (p.Cys761Ser)	FOXH1, KIFC2 (C761S)	Indel (missense variant)	CBL-related disorder	GUncertain significance

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