"Genome-Nilou Lab"[submitter] AND "ASPM"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 21638	NM_018136.5(ASPM):c.9773A>G (p.His3258Arg)	ASPM (H3258R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 21635	NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)	ASPM (R3244* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
Select item 21634	NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)	ASPM (R3233* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1029678	NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter)	ASPM (W1635* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 673922	NM_018136.5(ASPM):c.9636+52T>C	ASPM	Single nucleotide variant (intron variant)	Microcephaly 5, primary, autosomal recessive +1 more	GBenign
Select item 1486541	NM_018136.5(ASPM):c.9593G>A (p.Arg3198His)	ASPM (R1613H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1300352	NM_018136.5(ASPM):c.9578G>A (p.Arg3193His)	ASPM (R1608H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 157915	NM_018136.5(ASPM):c.9577C>T (p.Arg3193Cys)	ASPM (R3193C +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 1303573	NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro)	ASPM (A1600P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 157914	NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=)	ASPM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 510890	NM_018136.5(ASPM):c.9471A>G (p.Glu3157=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1704817	NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln)	ASPM (R1567Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 157913	NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter)	ASPM (R3152* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 157912	NM_018136.5(ASPM):c.9444+8T>G	ASPM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 294601	NM_018136.5(ASPM):c.9439A>G (p.Ile3147Val)	ASPM (I3147V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 157911	NM_018136.5(ASPM):c.9395T>C (p.Leu3132Pro)	ASPM (L3132P +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 21625	NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg)	ASPM (L3132R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 643176	NM_018136.5(ASPM):c.9324del (p.Leu3109fs)	ASPM (L1524fs +1 more)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive +3 more	GPathogenic/Likely pathogenic
Select item 2180477	NM_018136.5(ASPM):c.9250G>A (p.Val3084Ile)	ASPM (V3084I +1 more)	Single nucleotide variant (missense variant)	ASPM-related disorder +2 more	GUncertain significance
Select item 876700	NM_018136.5(ASPM):c.9223A>C (p.Lys3075Gln)	ASPM (K1490Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 21621	NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)	ASPM (R3064* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 4960	NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)	ASPM (Q3060* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1315499	NM_018136.5(ASPM):c.9167C>A (p.Ala3056Asp)	ASPM (A1471D +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 294603	NM_018136.5(ASPM):c.9151C>T (p.Arg3051Trp)	ASPM (R3051W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 195616	NM_018136.5(ASPM):c.9101G>A (p.Cys3034Tyr)	ASPM (C3034Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 157904	NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter)	ASPM (R3031* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 593359	NM_018136.5(ASPM):c.9052A>G (p.Lys3018Glu)	ASPM (K3018E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 387515	NM_018136.5(ASPM):c.9006A>G (p.Ala3002=)	ASPM	Single nucleotide variant (synonymous variant)	Microcephaly 5, primary, autosomal recessive +2 more	GLikely benign
Select item 1309538	NM_018136.5(ASPM):c.8836T>C (p.Tyr2946His)	ASPM (Y1361H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 157900	NM_018136.5(ASPM):c.8820+7C>G	ASPM	Single nucleotide variant (intron variant)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 294604	NM_018136.5(ASPM):c.8804G>A (p.Ser2935Asn)	ASPM (S2935N)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 157898	NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs)	ASPM (Q2904fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
Select item 210361	NM_018136.5(ASPM):c.8683G>A (p.Ala2895Thr)	ASPM (A2895T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 434405	NM_018136.5(ASPM):c.8557C>T (p.Arg2853Trp)	ASPM (R2853W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1897883	NM_018136.5(ASPM):c.8539C>G (p.Leu2847Val)	ASPM (L2847V)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 157896	NM_018136.5(ASPM):c.8524C>T (p.Arg2842Trp)	ASPM (R2842W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 157894	NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)	ASPM (Q2836fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 387514	NM_018136.5(ASPM):c.8371G>A (p.Gly2791Ser)	ASPM (G2791S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 294607	NM_018136.5(ASPM):c.8294A>C (p.Lys2765Thr)	ASPM (K2765T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 518195	NM_018136.5(ASPM):c.8277A>G (p.Lys2759=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GLikely benign
Select item 522990	NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter)	ASPM (Q2756*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 874821	NM_018136.5(ASPM):c.8206T>G (p.Leu2736Val)	ASPM (L2736V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 512386	NM_018136.5(ASPM):c.8187A>G (p.Lys2729=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 282364	NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 157888	NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs)	ASPM (K2712fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1511123	NM_018136.5(ASPM):c.8045G>A (p.Arg2682Gln)	ASPM (R2682Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 157884	NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr)	ASPM (I2670T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1029676	NM_018136.5(ASPM):c.7966AGA[1] (p.Arg2657del)	ASPM (R2657del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 21611	NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile)	ASPM (L2647I)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign
Select item 157883	NM_018136.5(ASPM):c.7917A>G (p.Lys2639=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 1958054	NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)	ASPM (I2631del)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 21609	NM_018136.5(ASPM):c.7860G>C (p.Gln2620His)	ASPM (Q2620H)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign
Select item 1917093	NM_018136.5(ASPM):c.7832G>A (p.Gly2611Asp)	ASPM (G2611D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 806299	NM_018136.5(ASPM):c.7799A>G (p.Asn2600Ser)	ASPM (N2600S)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 157878	NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala)	ASPM (V2596A)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 426428	NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs)	ASPM (K2595fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
Select item 21606	NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)	ASPM (K2595fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 510051	NM_018136.5(ASPM):c.7761T>C (p.Tyr2587=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GLikely benign
Select item 383222	NM_018136.5(ASPM):c.7701T>C (p.Tyr2567=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 21605	NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly)	ASPM (S2562G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 157876	NM_018136.5(ASPM):c.7674C>A (p.Ile2558=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GBenign/Likely benign
Select item 21604	NM_018136.5(ASPM):c.7674C>T (p.Ile2558=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign
Select item 745020	NM_018136.5(ASPM):c.7635A>G (p.Lys2545=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 21603	NM_018136.5(ASPM):c.7605G>A (p.Val2535=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign
Select item 21602	NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 136427	NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter)	ASPM (L2522*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1472408	NM_018136.5(ASPM):c.7544G>A (p.Arg2515Gln)	ASPM (R2515Q)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 2176291	NM_018136.5(ASPM):c.7502A>G (p.Gln2501Arg)	ASPM (Q2501R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 21599	NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His)	ASPM (Y2494H)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign
Select item 157868	NM_018136.5(ASPM):c.7353G>A (p.Leu2451=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 995414	NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs)	ASPM (I2445fs)	Duplication (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
Select item 585449	NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter)	ASPM (R2442*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1519845	NM_018136.5(ASPM):c.7235C>A (p.Thr2412Asn)	ASPM (T2412N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 157867	NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs)	ASPM (S2387fs)	Microsatellite (frameshift variant +1 more)	Autosomal recessive primary microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 157864	NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)	ASPM (Q2377fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 157861	NM_018136.5(ASPM):c.7023C>T (p.Ile2341=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 286057	NM_018136.5(ASPM):c.7002G>T (p.Met2334Ile)	ASPM (M2334I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1029675	NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter)	ASPM (R2332*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 157860	NM_018136.5(ASPM):c.6960A>G (p.Ser2320=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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