19048[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 146109	GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1	ASPM, CFH +36 more	Copy number loss	See cases	GPathogenic
Select item 1223553	NC_000001.11:g.197083990C>T	ASPM	Single nucleotide variant	not provided	GLikely benign
Select item 1252618	NC_000001.11:g.197084011T>C	ASPM	Single nucleotide variant	not provided	GBenign
Select item 210340	NM_018136.5(ASPM):c.*158T>C	ASPM	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 294589	NM_018136.5(ASPM):c.*145T>G	ASPM	Single nucleotide variant (3 prime UTR variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 294590	NM_018136.5(ASPM):c.*82G>A	ASPM	Single nucleotide variant (3 prime UTR variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 294591	NM_018136.5(ASPM):c.*81C>T	ASPM	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 210342	NM_018136.5(ASPM):c.*78C>G	ASPM	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 876659	NM_018136.5(ASPM):c.*61G>A	ASPM	Single nucleotide variant (3 prime UTR variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 210341	NM_018136.5(ASPM):c.*60C>T	ASPM	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 294592	NM_018136.5(ASPM):c.10416G>A (p.Thr3472=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2980673	NM_018136.5(ASPM):c.10415C>T (p.Thr3472Met)	ASPM (T1887M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1614463	NM_018136.5(ASPM):c.10374A>G (p.Glu3458=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1697199	NM_018136.5(ASPM):c.10369del (p.Glu3457fs)	ASPM (E1872fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2167450	NM_018136.5(ASPM):c.10364A>T (p.Asn3455Ile)	ASPM (N1870I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850270	NM_018136.5(ASPM):c.10346G>T (p.Trp3449Leu)	ASPM (W3449L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503777	NM_018136.5(ASPM):c.10337del (p.Lys3446fs)	ASPM (K1861fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1901396	NM_018136.5(ASPM):c.10335T>G (p.Leu3445=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1238332	NM_018136.5(ASPM):c.10332-20dup	ASPM	Duplication (intron variant)	not provided	GBenign
Select item 1204775	NM_018136.5(ASPM):c.10332-6del	ASPM	Deletion (intron variant)	not provided	GLikely benign
Select item 1579747	NM_018136.5(ASPM):c.10332-13T>C	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220309	NM_018136.5(ASPM):c.10332-40_10332-38del	ASPM	Microsatellite (intron variant)	not provided	GLikely benign
Select item 678055	NM_018136.5(ASPM):c.10331+151A>G	ASPM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377499	NM_018136.5(ASPM):c.10331+18G>A	ASPM	Single nucleotide variant (intron variant)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 157775	NM_018136.5(ASPM):c.10331+8A>G	ASPM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1309540	NM_018136.5(ASPM):c.10331+5G>T	ASPM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 157774	NM_018136.5(ASPM):c.10331+5G>A	ASPM	Single nucleotide variant (intron variant)	Microcephaly 5, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1521896	NM_018136.5(ASPM):c.10330A>C (p.Arg3444=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2827357	NM_018136.5(ASPM):c.10310T>A (p.Val3437Glu)	ASPM (V1852E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751803	NM_018136.5(ASPM):c.10296C>T (p.Ile3432=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196037	NM_018136.5(ASPM):c.10295T>A (p.Ile3432Asn)	ASPM (I3432N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 2593815	NM_018136.5(ASPM):c.10288C>T (p.Pro3430Ser)	ASPM (P3430S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404473	NM_018136.5(ASPM):c.10284C>G (p.Ser3428Arg)	ASPM (S1843R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 294593	NM_018136.5(ASPM):c.10279A>G (p.Ile3427Val)	ASPM (I3427V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 294594	NM_018136.5(ASPM):c.10261C>A (p.Gln3421Lys)	ASPM (Q3421K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2428264	NM_018136.5(ASPM):c.10259A>G (p.Lys3420Arg)	ASPM (K1835R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796680	NM_018136.5(ASPM):c.10253_10257del (p.Leu3418fs)	ASPM (L3418fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1345972	NM_018136.5(ASPM):c.10222C>T (p.His3408Tyr)	ASPM (H1823Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 985791	NM_018136.5(ASPM):c.10217C>G (p.Thr3406Arg)	ASPM (T1821R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2890885	NM_018136.5(ASPM):c.10192C>T (p.Arg3398Cys)	ASPM (R1813C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 157773	NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)	ASPM (R3390* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 2210393	NM_018136.5(ASPM):c.10165G>A (p.Val3389Ile)	ASPM (V1804I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 157772	NM_018136.5(ASPM):c.10162-7T>A	ASPM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1196998	NM_018136.5(ASPM):c.10162-73G>T	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232852	NM_018136.5(ASPM):c.10161+144A>T	ASPM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 210344	NM_018136.5(ASPM):c.10161+13_10161+16del	ASPM	Deletion (intron variant)	not specified	GLikely benign
Select item 3234920	NM_018136.5(ASPM):c.10161+1_10161+2del	ASPM	Deletion (splice donor variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 1388732	NM_018136.5(ASPM):c.10156G>C (p.Ala3386Pro)	ASPM (A3386P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476829	NM_018136.5(ASPM):c.10148C>T (p.Thr3383Ile)	ASPM (T1798I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931335	NM_018136.5(ASPM):c.10147A>G (p.Thr3383Ala)	ASPM (T3383A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053391	NM_018136.5(ASPM):c.10145C>T (p.Thr3382Ile)	ASPM (T3382I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2118408	NM_018136.5(ASPM):c.10126T>C (p.Leu3376=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 993038	NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del)	ASPM (C1789del +1 more)	Microsatellite (inframe_deletion)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2688620	NM_018136.5(ASPM):c.10118G>A (p.Cys3373Tyr)	ASPM (C1788Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 975498	NM_018136.5(ASPM):c.10113A>C (p.Lys3371Asn)	ASPM (K1786N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 157771	NM_018136.5(ASPM):c.10109C>G (p.Thr3370Arg)	ASPM (T3370R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 157770	NM_018136.5(ASPM):c.10100G>A (p.Ser3367Asn)	ASPM (S3367N +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 294595	NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg)	ASPM (G3366R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 294596	NM_018136.5(ASPM):c.10095C>T (p.Gly3365=)	ASPM	Single nucleotide variant (synonymous variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 874777	NM_018136.5(ASPM):c.10061G>A (p.Arg3354Gln)	ASPM (R1769Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 210343	NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter)	ASPM (R3354* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 21549	NM_018136.5(ASPM):c.10059C>A (p.Tyr3353Ter)	ASPM (Y3353* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 234723	NM_018136.5(ASPM):c.10057T>C (p.Tyr3353His)	ASPM (Y3353H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1339592	NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs)	ASPM (I1767fs +1 more)	Insertion (frameshift variant)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
Select item 507500	NM_018136.5(ASPM):c.10041G>A (p.Leu3347=)	ASPM	Single nucleotide variant (synonymous variant)	Microcephaly 5, primary, autosomal recessive +2 more	GLikely benign
Select item 294597	NM_018136.5(ASPM):c.10039T>C (p.Leu3347=)	ASPM	Single nucleotide variant (synonymous variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2967321	NM_018136.5(ASPM):c.10034T>A (p.Ile3345Lys)	ASPM (I3345K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520464	NM_018136.5(ASPM):c.10013A>T (p.Asp3338Val)	ASPM (D1753V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3318701	NM_018136.5(ASPM):c.10010A>G (p.Tyr3337Cys)	ASPM (Y1752C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1480181	NM_018136.5(ASPM):c.10001CAG[1] (p.Ala3335del)	ASPM (A3335del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 874778	NM_018136.5(ASPM):c.10006G>A (p.Val3336Ile)	ASPM (V3336I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2717691	NM_018136.5(ASPM):c.10005A>C (p.Ala3335=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 157923	NM_018136.5(ASPM):c.9996T>C (p.Thr3332=)	ASPM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 740737	NM_018136.5(ASPM):c.9985-9C>G	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 157922	NM_018136.5(ASPM):c.9985-72G>A	ASPM	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1208009	NM_018136.5(ASPM):c.9984+204_9984+206del	ASPM	Deletion (intron variant)	not provided	GLikely benign
Select item 21641	NM_018136.5(ASPM):c.9984+1G>T	ASPM	Single nucleotide variant (splice donor variant)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 489306	NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter)	ASPM (Q3321* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive +2 more	GPathogenic
Select item 2015011	NM_018136.5(ASPM):c.9958G>A (p.Val3320Met)	ASPM (V3320M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672374	NM_018136.5(ASPM):c.9954T>C (p.Tyr3318=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 874779	NM_018136.5(ASPM):c.9939G>T (p.Met3313Ile)	ASPM (M3313I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 294598	NM_018136.5(ASPM):c.9932C>T (p.Pro3311Leu)	ASPM (P3311L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 3318697	NM_018136.5(ASPM):c.9931C>T (p.Pro3311Ser)	ASPM (P3311S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325567	NM_018136.5(ASPM):c.9931C>G (p.Pro3311Ala)	ASPM (P1726A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 157921	NM_018136.5(ASPM):c.9928A>G (p.Ile3310Val)	ASPM (I3310V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 375460	NM_018136.5(ASPM):c.9923G>T (p.Arg3308Leu)	ASPM (R3308L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 157920	NM_018136.5(ASPM):c.9923G>A (p.Arg3308His)	ASPM (R3308H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 157919	NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln)	ASPM (R3304Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 157918	NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter)	ASPM (R3304* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2439257	NM_018136.5(ASPM):c.9898T>C (p.Phe3300Leu)	ASPM (F1715L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 284745	NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr)	ASPM (S3297Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1323525	NM_018136.5(ASPM):c.9874C>T (p.Gln3292Ter)	ASPM (Q1707* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 21640	NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter)	ASPM (R3281* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 1565614	NM_018136.5(ASPM):c.9834A>G (p.Val3278=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 294599	NM_018136.5(ASPM):c.9833T>C (p.Val3278Ala)	ASPM (V3278A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2229885	NM_018136.5(ASPM):c.9832G>A (p.Val3278Ile)	ASPM (V1693I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 771317	NM_018136.5(ASPM):c.9830-7C>T	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign

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