ClinVar for Gene (Select 79987) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323756	NM_153366.4(SVEP1):c.5516T>C (p.Ile1839Thr)	SVEP1 (I1839T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323755	NM_153366.4(SVEP1):c.9256A>G (p.Ile3086Val)	SVEP1 (I3086V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3323754	NM_153366.4(SVEP1):c.3236C>G (p.Pro1079Arg)	SVEP1 (P1079R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323753	NM_153366.4(SVEP1):c.6311C>G (p.Ala2104Gly)	SVEP1 (A2104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323752	NM_153366.4(SVEP1):c.3638G>T (p.Arg1213Leu)	SVEP1 (R1213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323751	NM_153366.4(SVEP1):c.2483A>T (p.Lys828Ile)	SVEP1 (K828I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323750	NM_153366.4(SVEP1):c.9592A>G (p.Ser3198Gly)	SVEP1 (S3198G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323749	NM_153366.4(SVEP1):c.6745C>T (p.Arg2249Cys)	SVEP1 (R2249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323748	NM_153366.4(SVEP1):c.2372G>A (p.Arg791His)	SVEP1 (R791H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323747	NM_153366.4(SVEP1):c.6386G>A (p.Gly2129Asp)	SVEP1 (G2129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323746	NM_153366.4(SVEP1):c.8555A>C (p.Gln2852Pro)	SVEP1 (Q2852P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323745	NM_153366.4(SVEP1):c.10043C>T (p.Pro3348Leu)	SVEP1 (P3348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323744	NM_153366.4(SVEP1):c.2554T>G (p.Tyr852Asp)	SVEP1 (Y852D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323743	NM_153366.4(SVEP1):c.7809T>A (p.Ser2603Arg)	SVEP1 (S2603R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323742	NM_153366.4(SVEP1):c.9937G>C (p.Glu3313Gln)	SVEP1 (E3313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323741	NM_153366.4(SVEP1):c.10276A>G (p.Ile3426Val)	SVEP1 (I3426V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323740	NM_153366.4(SVEP1):c.8632A>T (p.Ser2878Cys)	SVEP1 (S2878C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323739	NM_153366.4(SVEP1):c.3620C>T (p.Thr1207Ile)	SVEP1 (T1207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323737	NM_153366.4(SVEP1):c.9344C>T (p.Pro3115Leu)	SVEP1 (P3115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323736	NM_153366.4(SVEP1):c.1067C>T (p.Ser356Phe)	SVEP1 (S356F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323735	NM_153366.4(SVEP1):c.3620C>A (p.Thr1207Asn)	SVEP1 (T1207N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323734	NM_153366.4(SVEP1):c.5099T>C (p.Phe1700Ser)	SVEP1 (F1700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323733	NM_153366.4(SVEP1):c.3620C>G (p.Thr1207Ser)	SVEP1 (T1207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323732	NM_153366.4(SVEP1):c.1428T>A (p.Asp476Glu)	SVEP1 (D476E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323731	NM_153366.4(SVEP1):c.3517A>G (p.Ser1173Gly)	SVEP1 (S1173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323730	NM_153366.4(SVEP1):c.1867G>A (p.Val623Ile)	SVEP1 (V623I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323729	NM_153366.4(SVEP1):c.5837C>T (p.Thr1946Met)	SVEP1 (T1946M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3172419	NM_153366.4(SVEP1):c.9835C>T (p.Arg3279Cys)	SVEP1 (R3279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172418	NM_153366.4(SVEP1):c.979A>G (p.Thr327Ala)	SVEP1 (T327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3172416	NM_153366.4(SVEP1):c.9458C>T (p.Thr3153Met)	SVEP1 (T3153M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3172414	NM_153366.4(SVEP1):c.9058A>G (p.Thr3020Ala)	SVEP1 (T3020A)	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 3172411	NM_153366.4(SVEP1):c.869G>A (p.Arg290Gln)	SVEP1 (R290Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 3172406	NM_153366.4(SVEP1):c.794C>A (p.Pro265His)	SVEP1 (P265H)	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 3172403	NM_153366.4(SVEP1):c.7649C>T (p.Ser2550Phe)	SVEP1 (S2550F)	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 3172400	NM_153366.4(SVEP1):c.7130A>G (p.Lys2377Arg)	SVEP1 (K2377R)	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 3172398	NM_153366.4(SVEP1):c.6815A>G (p.Asn2272Ser)	SVEP1 (N2272S)	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 3172396	NM_153366.4(SVEP1):c.6496G>C (p.Ala2166Pro)	SVEP1 (A2166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172395	NM_153366.4(SVEP1):c.6433C>T (p.Arg2145Trp)	SVEP1 (R2145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172394	NM_153366.4(SVEP1):c.6076A>G (p.Ile2026Val)	SVEP1 (I2026V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172393	NM_153366.4(SVEP1):c.601G>A (p.Gly201Arg)	SVEP1 (G201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172392	NM_153366.4(SVEP1):c.5573T>C (p.Ile1858Thr)	SVEP1 (I1858T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172391	NM_153366.4(SVEP1):c.5531C>A (p.Ala1844Asp)	SVEP1 (A1844D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172390	NM_153366.4(SVEP1):c.5411T>A (p.Ile1804Asn)	SVEP1 (I1804N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172389	NM_153366.4(SVEP1):c.5384C>T (p.Pro1795Leu)	SVEP1 (P1795L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172388	NM_153366.4(SVEP1):c.47C>T (p.Ser16Leu)	SVEP1 (S16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172387	NM_153366.4(SVEP1):c.4710T>G (p.Phe1570Leu)	SVEP1 (F1570L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172386	NM_153366.4(SVEP1):c.4576G>C (p.Val1526Leu)	SVEP1 (V1526L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172384	NM_153366.4(SVEP1):c.4525A>G (p.Arg1509Gly)	SVEP1 (R1509G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172383	NM_153366.4(SVEP1):c.4511C>T (p.Ser1504Leu)	SVEP1 (S1504L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172382	NM_153366.4(SVEP1):c.4464C>G (p.Gly1488=)	SVEP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3172381	NM_153366.4(SVEP1):c.4096A>T (p.Ser1366Cys)	SVEP1 (S1366C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172380	NM_153366.4(SVEP1):c.4075A>C (p.Thr1359Pro)	SVEP1 (T1359P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172379	NM_153366.4(SVEP1):c.3926A>G (p.Asn1309Ser)	SVEP1 (N1309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172378	NM_153366.4(SVEP1):c.3875G>A (p.Arg1292His)	SVEP1 (R1292H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172377	NM_153366.4(SVEP1):c.3760A>G (p.Ile1254Val)	SVEP1 (I1254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172375	NM_153366.4(SVEP1):c.349C>G (p.Pro117Ala)	SVEP1 (P117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172374	NM_153366.4(SVEP1):c.3454G>A (p.Ala1152Thr)	SVEP1 (A1152T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172373	NM_153366.4(SVEP1):c.3263C>T (p.Ser1088Leu)	SVEP1 (S1088L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172372	NM_153366.4(SVEP1):c.3148T>G (p.Ser1050Ala)	SVEP1 (S1050A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172371	NM_153366.4(SVEP1):c.3002A>G (p.Asn1001Ser)	SVEP1 (N1001S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172370	NM_153366.4(SVEP1):c.3001A>C (p.Asn1001His)	SVEP1 (N1001H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172369	NM_153366.4(SVEP1):c.2994G>A (p.Met998Ile)	LOC132089633, SVEP1 (M998I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172368	NM_153366.4(SVEP1):c.2917A>G (p.Ile973Val)	LOC132089633, SVEP1 (I973V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172367	NM_153366.4(SVEP1):c.2894T>C (p.Phe965Ser)	LOC132089633, SVEP1 (F965S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172366	NM_153366.4(SVEP1):c.2817G>T (p.Gln939His)	SVEP1 (Q939H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172364	NM_153366.4(SVEP1):c.2770G>A (p.Val924Met)	SVEP1 (V924M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172363	NM_153366.4(SVEP1):c.2429A>G (p.Asp810Gly)	SVEP1 (D810G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172362	NM_153366.4(SVEP1):c.2323G>A (p.Val775Ile)	SVEP1 (V775I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3172361	NM_153366.4(SVEP1):c.231G>T (p.Glu77Asp)	SVEP1 (E77D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172359	NM_153366.4(SVEP1):c.2236G>A (p.Gly746Arg)	SVEP1 (G746R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172358	NM_153366.4(SVEP1):c.2069C>T (p.Thr690Ile)	SVEP1 (T690I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172357	NM_153366.4(SVEP1):c.1998T>G (p.His666Gln)	SVEP1 (H666Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172356	NM_153366.4(SVEP1):c.1928T>C (p.Ile643Thr)	SVEP1 (I643T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172355	NM_153366.4(SVEP1):c.1548G>T (p.Lys516Asn)	SVEP1 (K516N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3172353	NM_153366.4(SVEP1):c.10451G>A (p.Arg3484His)	SVEP1 (R3484H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172351	NM_153366.4(SVEP1):c.1021A>G (p.Ile341Val)	SVEP1 (I341V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3024938	NM_153366.4(SVEP1):c.7180C>T (p.Pro2394Ser)	SVEP1 (P2394S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2673186	NM_153366.4(SVEP1):c.4876A>G (p.Ile1626Val)	SVEP1 (I1626V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659425	NM_153366.4(SVEP1):c.12C>T (p.Arg4=)	SVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659424	NM_153366.4(SVEP1):c.129C>T (p.Pro43=)	SVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659423	NM_153366.4(SVEP1):c.198G>A (p.Gln66=)	SVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659422	NM_153366.4(SVEP1):c.483C>G (p.Ser161=)	SVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659421	NM_153366.4(SVEP1):c.1484-4G>A	SVEP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659420	NM_153366.4(SVEP1):c.2322C>T (p.Gly774=)	SVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659419	NM_153366.4(SVEP1):c.2805A>G (p.Glu935=)	SVEP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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