18632[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 2252686	NM_017576.4(KIF27):c.4178C>A (p.Ser1393Tyr)	KIF27 (S1296Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114853	NM_017576.4(KIF27):c.4121G>A (p.Arg1374Gln)	KIF27 (R1277Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250399	NM_017576.4(KIF27):c.4079G>A (p.Arg1360Gln)	KIF27 (R1360Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613083	NM_017576.4(KIF27):c.4052A>T (p.His1351Leu)	KIF27 (H1220L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556620	NM_017576.4(KIF27):c.4034G>A (p.Gly1345Glu)	KIF27 (G865E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297093	NM_017576.4(KIF27):c.4016C>G (p.Ser1339Cys)	KIF27 (S1208C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597171	NM_017576.4(KIF27):c.3992C>T (p.Thr1331Ile)	KIF27 (T779I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252126	NM_017576.4(KIF27):c.3983A>G (p.Asn1328Ser)	KIF27 (N1328S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400765	NM_017576.4(KIF27):c.3931C>G (p.Pro1311Ala)	KIF27 (P1311A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382336	NM_017576.4(KIF27):c.3898C>T (p.Pro1300Ser)	KIF27 (P1234S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455411	NM_017576.4(KIF27):c.3896T>G (p.Ile1299Ser)	KIF27 (I1168S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302251	NM_017576.4(KIF27):c.3896T>C (p.Ile1299Thr)	KIF27 (I1168T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114851	NM_017576.4(KIF27):c.3863C>T (p.Thr1288Ile)	KIF27 (T1191I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114850	NM_017576.4(KIF27):c.3826G>C (p.Glu1276Gln)	KIF27 (E1276Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273236	NM_017576.4(KIF27):c.3631T>C (p.Tyr1211His)	KIF27 (Y1114H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235781	NM_017576.4(KIF27):c.3584C>G (p.Thr1195Ser)	KIF27 (T1195S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616175	NM_017576.4(KIF27):c.3571G>T (p.Gly1191Cys)	KIF27 (G1094C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306454	NM_017576.4(KIF27):c.3463C>G (p.Leu1155Val)	KIF27 (L1058V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407897	NM_017576.4(KIF27):c.3454G>C (p.Glu1152Gln)	KIF27 (E672Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403011	NM_017576.4(KIF27):c.3439A>G (p.Met1147Val)	KIF27 (M1147V +5 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2469483	NM_017576.4(KIF27):c.3438T>G (p.Asn1146Lys)	KIF27 (N1049K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333077	NM_017576.4(KIF27):c.3394T>G (p.Leu1132Val)	KIF27 (L1001V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496261	NM_017576.4(KIF27):c.3334A>G (p.Ile1112Val)	KIF27 (I1046V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515759	NM_017576.4(KIF27):c.3331A>G (p.Thr1111Ala)	KIF27 (T1045A +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2619986	NM_017576.4(KIF27):c.3274C>T (p.Arg1092Cys)	KIF27 (R961C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275347	NM_017576.4(KIF27):c.3235C>T (p.Arg1079Cys)	KIF27 (R527C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403012	NM_017576.4(KIF27):c.3186T>A (p.Ile1062=)	KIF27	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2469891	NM_017576.4(KIF27):c.3158A>G (p.His1053Arg)	KIF27 (H1053R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263995	NM_017576.4(KIF27):c.3120A>C (p.Lys1040Asn)	KIF27 (K560N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659279	NM_017576.4(KIF27):c.3111G>T (p.Val1037=)	KIF27	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2375147	NM_017576.4(KIF27):c.3109G>T (p.Val1037Leu)	KIF27 (V971L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375144	NM_017576.4(KIF27):c.3107A>T (p.Asn1036Ile)	KIF27 (N1036I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403013	NM_017576.4(KIF27):c.3106A>G (p.Asn1036Asp)	KIF27 (N1036D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2211275	NM_017576.4(KIF27):c.3105C>A (p.His1035Gln)	KIF27 (H555Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709464	NM_017576.4(KIF27):c.3099C>A (p.Arg1033=)	KIF27	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2454252	NM_017576.4(KIF27):c.3098G>A (p.Arg1033His)	KIF27 (R967H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114848	NM_017576.4(KIF27):c.3097C>T (p.Arg1033Cys)	KIF27 (R1033C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403014	NM_017576.4(KIF27):c.3054A>G (p.Glu1018=)	KIF27	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 2230121	NM_017576.4(KIF27):c.3025A>G (p.Thr1009Ala)	KIF27 (T529A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611110	NM_017576.4(KIF27):c.3022A>G (p.Ser1008Gly)	KIF27 (S911G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114847	NM_017576.4(KIF27):c.2994G>C (p.Leu998Phe)	KIF27 (L998F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114846	NM_017576.4(KIF27):c.2991G>C (p.Glu997Asp)	KIF27 (E900D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218704	NM_017576.4(KIF27):c.2980C>A (p.Leu994Met)	KIF27 (L897M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114844	NM_017576.4(KIF27):c.2969G>T (p.Arg990Leu)	KIF27 (R510L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489141	NM_017576.4(KIF27):c.2729G>T (p.Gly910Val)	KIF27 (G844V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620713	NM_017576.4(KIF27):c.2666A>G (p.Gln889Arg)	KIF27 (Q823R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114842	NM_017576.4(KIF27):c.2623C>T (p.Arg875Trp)	KIF27 (R875W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114841	NM_017576.4(KIF27):c.2602C>A (p.Gln868Lys)	KIF27 (Q868K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659280	NM_017576.4(KIF27):c.2579G>A (p.Arg860Gln)	KIF27 (R380Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3114840	NM_017576.4(KIF27):c.2570G>C (p.Arg857Thr)	KIF27 (R857T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114839	NM_017576.4(KIF27):c.2533G>A (p.Val845Ile)	KIF27 (V845I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114838	NM_017576.4(KIF27):c.2383A>G (p.Met795Val)	KIF27 (M795V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460914	NM_017576.4(KIF27):c.2306A>G (p.Glu769Gly)	KIF27 (E769G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228301	NM_017576.4(KIF27):c.2246A>C (p.Asp749Ala)	KIF27 (D749A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466297	NM_017576.4(KIF27):c.2232A>G (p.Ile744Met)	KIF27 (I264M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253846	NM_017576.4(KIF27):c.2216T>A (p.Leu739Gln)	KIF27 (L259Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223808	NM_017576.4(KIF27):c.2052T>A (p.Asp684Glu)	KIF27 (D204E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783549	NM_017576.4(KIF27):c.2019T>A (p.Val673=)	KIF27	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114837	NM_017576.4(KIF27):c.1984A>G (p.Arg662Gly)	KIF27 (R182G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403015	NM_017576.4(KIF27):c.1973G>A (p.Gly658Glu)	KIF27 (G658E +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 749540	NM_017576.4(KIF27):c.1943A>T (p.Asp648Val)	KIF27 (D648V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2219243	NM_017576.4(KIF27):c.1808A>G (p.Lys603Arg)	KIF27 (K123R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114836	NM_017576.4(KIF27):c.1783A>G (p.Ile595Val)	KIF27 (I595V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281398	NM_017576.4(KIF27):c.1642C>G (p.Leu548Val)	KIF27 (L548V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114835	NM_017576.4(KIF27):c.1620A>C (p.Glu540Asp)	KIF27 (E60D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515591	NM_017576.4(KIF27):c.1595G>A (p.Arg532Lys)	KIF27 (R52K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336782	NM_017576.4(KIF27):c.1436A>G (p.Lys479Arg)	KIF27 (K479R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559680	NM_017576.4(KIF27):c.1243G>A (p.Val415Ile)	KIF27 (V415I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2401497	NM_017576.4(KIF27):c.1214A>G (p.Gln405Arg)	KIF27 (Q405R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114834	NM_017576.4(KIF27):c.1148T>G (p.Ile383Ser)	KIF27 (I383S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298487	NM_017576.4(KIF27):c.1142C>T (p.Thr381Ile)	KIF27 (T381I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114833	NM_017576.4(KIF27):c.1116C>G (p.Ser372Arg)	KIF27 (S372R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546586	NM_017576.4(KIF27):c.1100G>A (p.Arg367Gln)	KIF27 (R367Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114831	NM_017576.4(KIF27):c.1083T>G (p.Phe361Leu)	KIF27 (F361L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526171	NM_017576.4(KIF27):c.992C>A (p.Ser331Tyr)	KIF27 (S331Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326889	NM_017576.4(KIF27):c.944T>C (p.Ile315Thr)	KIF27 (I315T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381384	NM_017576.4(KIF27):c.898C>T (p.Arg300Trp)	KIF27 (R300W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495249	NM_017576.4(KIF27):c.809G>T (p.Gly270Val)	KIF27 (G270V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515369	NM_017576.4(KIF27):c.761C>T (p.Thr254Met)	KIF27 (T254M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114856	NM_017576.4(KIF27):c.701G>A (p.Arg234Gln)	KIF27 (R234Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403016	NM_017576.4(KIF27):c.637A>G (p.Ile213Val)	KIF27 (I213V)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2624217	NM_017576.4(KIF27):c.615C>G (p.Ser205Arg)	KIF27 (S205R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114855	NM_017576.4(KIF27):c.607C>G (p.His203Asp)	KIF27 (H203D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222547	NM_017576.4(KIF27):c.514A>C (p.Lys172Gln)	KIF27 (K172Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526817	NM_017576.4(KIF27):c.493A>G (p.Asn165Asp)	KIF27 (N165D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207831	NM_017576.4(KIF27):c.457A>G (p.Met153Val)	KIF27 (M153V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2456829	NM_017576.4(KIF27):c.452C>T (p.Thr151Ile)	KIF27 (T151I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542260	NM_017576.4(KIF27):c.377G>A (p.Ser126Asn)	KIF27 (S126N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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