15985[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 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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 3172354	NM_153366.4(SVEP1):c.10627G>A (p.Gly3543Ser)	LOC124310623, SVEP1 (G3543S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594018	NM_153366.4(SVEP1):c.10538G>A (p.Arg3513His)	SVEP1 (R3513H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348766	NM_153366.4(SVEP1):c.10531G>A (p.Gly3511Arg)	SVEP1 (G3511R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659410	NM_153366.4(SVEP1):c.10521C>T (p.Pro3507=)	SVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3172353	NM_153366.4(SVEP1):c.10451G>A (p.Arg3484His)	SVEP1 (R3484H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232713	NM_153366.4(SVEP1):c.10449A>C (p.Gln3483His)	SVEP1 (Q3483H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211960	NM_153366.4(SVEP1):c.10378G>A (p.Gly3460Arg)	SVEP1 (G3460R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597280	NM_153366.4(SVEP1):c.10370T>C (p.Leu3457Ser)	SVEP1 (L3457S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325815	NM_153366.4(SVEP1):c.10225G>A (p.Ala3409Thr)	SVEP1 (A3409T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250559	NM_153366.4(SVEP1):c.10181G>T (p.Gly3394Val)	SVEP1 (G3394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379738	NM_153366.4(SVEP1):c.10124A>T (p.Tyr3375Phe)	SVEP1 (Y3375F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659411	NM_153366.4(SVEP1):c.10092C>T (p.Pro3364=)	SVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551213	NM_153366.4(SVEP1):c.10039C>G (p.His3347Asp)	SVEP1 (H3347D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172421	NM_153366.4(SVEP1):c.9988A>G (p.Ser3330Gly)	SVEP1 (S3330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172420	NM_153366.4(SVEP1):c.9977A>T (p.Asn3326Ile)	SVEP1 (N3326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383030	NM_153366.4(SVEP1):c.9947C>T (p.Thr3316Met)	SVEP1 (T3316M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389863	NM_153366.4(SVEP1):c.9935T>C (p.Ile3312Thr)	SVEP1 (I3312T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520610	NM_153366.4(SVEP1):c.9920A>G (p.Asn3307Ser)	SVEP1 (N3307S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215005	NM_153366.4(SVEP1):c.9853A>G (p.Arg3285Gly)	SVEP1 (R3285G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361959	NM_153366.4(SVEP1):c.9836G>A (p.Arg3279His)	SVEP1 (R3279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172419	NM_153366.4(SVEP1):c.9835C>T (p.Arg3279Cys)	SVEP1 (R3279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521785	NM_153366.4(SVEP1):c.9754G>A (p.Val3252Met)	SVEP1 (V3252M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304597	NM_153366.4(SVEP1):c.9718T>G (p.Ser3240Ala)	SVEP1 (S3240A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3172417	NM_153366.4(SVEP1):c.9671A>T (p.Asp3224Val)	SVEP1 (D3224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337833	NM_153366.4(SVEP1):c.9517A>G (p.Arg3173Gly)	SVEP1 (R3173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172416	NM_153366.4(SVEP1):c.9458C>T (p.Thr3153Met)	SVEP1 (T3153M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622621	NM_153366.4(SVEP1):c.9409G>T (p.Ala3137Ser)	SVEP1 (A3137S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172415	NM_153366.4(SVEP1):c.9290A>G (p.Gln3097Arg)	SVEP1 (Q3097R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240897	NM_153366.4(SVEP1):c.9235A>G (p.Ser3079Gly)	SVEP1 (S3079G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615281	NM_153366.4(SVEP1):c.9211C>T (p.Pro3071Ser)	SVEP1 (P3071S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553267	NM_153366.4(SVEP1):c.9185C>T (p.Thr3062Ile)	SVEP1 (T3062I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474503	NM_153366.4(SVEP1):c.9113T>G (p.Leu3038Arg)	SVEP1 (L3038R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172414	NM_153366.4(SVEP1):c.9058A>G (p.Thr3020Ala)	SVEP1 (T3020A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461872	NM_153366.4(SVEP1):c.9035T>C (p.Ile3012Thr)	SVEP1 (I3012T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213825	NM_153366.4(SVEP1):c.8975A>T (p.Asn2992Ile)	SVEP1 (N2992I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352691	NM_153366.4(SVEP1):c.8948G>A (p.Gly2983Glu)	SVEP1 (G2983E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296194	NM_153366.4(SVEP1):c.8755G>A (p.Glu2919Lys)	SVEP1 (E2919K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172412	NM_153366.4(SVEP1):c.8753A>G (p.His2918Arg)	SVEP1 (H2918R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206455	NM_153366.4(SVEP1):c.8705C>T (p.Thr2902Met)	SVEP1 (T2902M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239142	NM_153366.4(SVEP1):c.8542G>A (p.Glu2848Lys)	SVEP1 (E2848K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172410	NM_153366.4(SVEP1):c.8313A>C (p.Glu2771Asp)	SVEP1 (E2771D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496197	NM_153366.4(SVEP1):c.8300C>T (p.Ser2767Phe)	SVEP1 (S2767F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490168	NM_153366.4(SVEP1):c.8197A>G (p.Thr2733Ala)	SVEP1 (T2733A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226866	NM_153366.4(SVEP1):c.8040G>A (p.Met2680Ile)	SVEP1 (M2680I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172408	NM_153366.4(SVEP1):c.8003C>T (p.Pro2668Leu)	SVEP1 (P2668L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172407	NM_153366.4(SVEP1):c.7996G>C (p.Glu2666Gln)	SVEP1 (E2666Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215004	NM_153366.4(SVEP1):c.7984G>A (p.Glu2662Lys)	SVEP1 (E2662K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608142	NM_153366.4(SVEP1):c.7982G>T (p.Trp2661Leu)	SVEP1 (W2661L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495284	NM_153366.4(SVEP1):c.7949C>T (p.Pro2650Leu)	SVEP1 (P2650L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458831	NM_153366.4(SVEP1):c.7915G>A (p.Asp2639Asn)	SVEP1 (D2639N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172405	NM_153366.4(SVEP1):c.7820C>T (p.Thr2607Ile)	SVEP1 (T2607I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605501	NM_153366.4(SVEP1):c.7798G>C (p.Gly2600Arg)	SVEP1 (G2600R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172403	NM_153366.4(SVEP1):c.7649C>T (p.Ser2550Phe)	SVEP1 (S2550F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485202	NM_153366.4(SVEP1):c.7610C>T (p.Thr2537Ile)	SVEP1 (T2537I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659412	NM_153366.4(SVEP1):c.7591G>A (p.Glu2531Lys)	SVEP1 (E2531K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2232555	NM_153366.4(SVEP1):c.7577G>A (p.Arg2526Gln)	SVEP1 (R2526Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172402	NM_153366.4(SVEP1):c.7558G>A (p.Val2520Ile)	SVEP1 (V2520I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172401	NM_153366.4(SVEP1):c.7351A>C (p.Ile2451Leu)	SVEP1 (I2451L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659413	NM_153366.4(SVEP1):c.7332G>A (p.Glu2444=)	SVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406744	NM_153366.4(SVEP1):c.7287C>G (p.Ser2429Arg)	SVEP1 (S2429R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391915	NM_153366.4(SVEP1):c.7208C>A (p.Thr2403Asn)	SVEP1 (T2403N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550073	NM_153366.4(SVEP1):c.7200T>G (p.Phe2400Leu)	SVEP1 (F2400L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024938	NM_153366.4(SVEP1):c.7180C>T (p.Pro2394Ser)	SVEP1 (P2394S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3172400	NM_153366.4(SVEP1):c.7130A>G (p.Lys2377Arg)	SVEP1 (K2377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251405	NM_153366.4(SVEP1):c.7097C>A (p.Ser2366Tyr)	SVEP1 (S2366Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313301	NM_153366.4(SVEP1):c.7093C>T (p.Pro2365Ser)	SVEP1 (P2365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172399	NM_153366.4(SVEP1):c.7046G>T (p.Cys2349Phe)	SVEP1 (C2349F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659414	NM_153366.4(SVEP1):c.6960T>G (p.Pro2320=)	SVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330607	NM_153366.4(SVEP1):c.6947C>T (p.Pro2316Leu)	SVEP1 (P2316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322404	NM_153366.4(SVEP1):c.6878G>A (p.Gly2293Asp)	SVEP1 (G2293D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172398	NM_153366.4(SVEP1):c.6815A>G (p.Asn2272Ser)	SVEP1 (N2272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543486	NM_153366.4(SVEP1):c.6806C>T (p.Pro2269Leu)	SVEP1 (P2269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376712	NM_153366.4(SVEP1):c.6799C>A (p.Pro2267Thr)	SVEP1 (P2267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276287	NM_153366.4(SVEP1):c.6781C>A (p.Pro2261Thr)	SVEP1 (P2261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470103	NM_153366.4(SVEP1):c.6766C>T (p.Pro2256Ser)	SVEP1 (P2256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409234	NM_153366.4(SVEP1):c.6743A>G (p.Asn2248Ser)	SVEP1 (N2248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317606	NM_153366.4(SVEP1):c.6720T>G (p.Ser2240Arg)	SVEP1 (S2240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330319	NM_153366.4(SVEP1):c.6698C>T (p.Pro2233Leu)	SVEP1 (P2233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311830	NM_153366.4(SVEP1):c.6647A>T (p.Glu2216Val)	SVEP1 (E2216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474060	NM_153366.4(SVEP1):c.6602C>T (p.Pro2201Leu)	SVEP1 (P2201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172397	NM_153366.4(SVEP1):c.6600C>G (p.His2200Gln)	SVEP1 (H2200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341577	NM_153366.4(SVEP1):c.6536A>G (p.Lys2179Arg)	SVEP1 (K2179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293278	NM_153366.4(SVEP1):c.6532A>G (p.Ile2178Val)	SVEP1 (I2178V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273477	NM_153366.4(SVEP1):c.6524G>A (p.Gly2175Glu)	SVEP1 (G2175E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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