"PreventionGenetics, part of Exact Sciences"[submitter] AND "ASPM"[gen - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157775	NM_018136.5(ASPM):c.10331+8A>G	ASPM	Single nucleotide variant (intron variant)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign
Select item 157919	NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln)	ASPM (R3304Q +1 more)	Single nucleotide variant (missense variant)	ASPM-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 284745	NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr)	ASPM (S3297Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 3033823	NM_018136.5(ASPM):c.9830-8del	ASPM	Deletion (intron variant)	ASPM-related disorder	GLikely benign
Select item 21638	NM_018136.5(ASPM):c.9773A>G (p.His3258Arg)	ASPM (H3258R +1 more)	Single nucleotide variant (missense variant)	ASPM-related disorder +3 more	GBenign/Likely benign
Select item 3029829	NM_018136.5(ASPM):c.9675T>C (p.Asp3225=)	ASPM	Single nucleotide variant (synonymous variant)	ASPM-related disorder	GLikely benign
Select item 289606	NM_018136.5(ASPM):c.9657T>G (p.Ser3219=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2143812	NM_018136.5(ASPM):c.9555A>G (p.Ala3185=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1303573	NM_018136.5(ASPM):c.9553G>C (p.Ala3185Pro)	ASPM (A1600P +1 more)	Single nucleotide variant (missense variant)	ASPM-related disorder +2 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 specified +2 more	GBenign
Select item 157907	NM_018136.5(ASPM):c.9276T>C (p.Gly3092=)	ASPM	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 157906	NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr)	ASPM (I3085T +1 more)	Single nucleotide variant (missense variant)	ASPM-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2180477	NM_018136.5(ASPM):c.9250G>A (p.Val3084Ile)	ASPM (V3084I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 3030764	NM_018136.5(ASPM):c.9087A>G (p.Arg3029=)	ASPM	Single nucleotide variant (synonymous variant)	ASPM-related disorder	GLikely benign
Select item 499424	NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser)	ASPM (A2818S)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 234260	NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)	ASPM (M2752R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 157890	NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val)	ASPM (F2735V)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 282364	NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 21611	NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile)	ASPM (L2647I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
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 21606	NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)	ASPM (K2595fs)	Deletion (frameshift variant +1 more)	ASPM-related disorder +4 more	GPathogenic
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 21604	NM_018136.5(ASPM):c.7674C>T (p.Ile2558=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 157875	NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)	ASPM (S2557C)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 21603	NM_018136.5(ASPM):c.7605G>A (p.Val2535=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 21602	NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 3040246	NM_018136.5(ASPM):c.7488A>G (p.Thr2496=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	ASPM-related disorder	GLikely benign
Select item 21599	NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His)	ASPM (Y2494H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 194879	NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys)	ASPM (R2492K)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 157867	NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs)	ASPM (S2387fs)	Microsatellite (frameshift variant +1 more)	ASPM-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 499427	NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly)	ASPM (R2372G)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 157863	NM_018136.5(ASPM):c.7074A>G (p.Lys2358=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875804	NM_018136.5(ASPM):c.6796G>A (p.Ala2266Thr)	ASPM (A2266T)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +2 more	GUncertain significance
Select item 729298	NM_018136.5(ASPM):c.6795C>T (p.Ala2265=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 157858	NM_018136.5(ASPM):c.6775T>C (p.Leu2259=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	ASPM-related disorder +3 more	GBenign/Likely benign
Select item 157850	NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly)	ASPM (D2042G)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 21593	NM_018136.5(ASPM):c.5961A>G (p.Gln1987=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 157842	NM_018136.5(ASPM):c.5846A>G (p.His1949Arg)	ASPM (H1949R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 294621	NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg)	ASPM (Q1914R)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +3 more	GBenign/Likely benign
Select item 1582624	NM_018136.5(ASPM):c.5700T>G (p.Ala1900=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	ASPM-related disorder +1 more	GLikely benign
Select item 595524	NM_018136.5(ASPM):c.5584A>G (p.Lys1862Glu)	ASPM (K1862E)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2896691	NM_018136.5(ASPM):c.5580G>A (p.Ala1860=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	ASPM-related disorder +1 more	GLikely benign
Select item 157834	NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)	ASPM (R1818C)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 157833	NM_018136.5(ASPM):c.5299G>C (p.Ala1767Pro)	ASPM (A1767P)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 95889	NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp)	ASPM (R1729W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 876854	NM_018136.5(ASPM):c.4975G>T (p.Val1659Phe)	ASPM (V1659F)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 157825	NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln)	ASPM (R1578Q)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 21586	NM_018136.5(ASPM):c.4449A>G (p.Lys1483=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign
Select item 157818	NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)	ASPM (R1405C)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +3 more	GBenign/Likely benign
Select item 2180478	NM_018136.5(ASPM):c.4157C>T (p.Ala1386Val)	ASPM (A1386V)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 157809	NM_018136.5(ASPM):c.3742-10T>G	ASPM	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 157808	NM_018136.5(ASPM):c.3741+3A>G	ASPM	Single nucleotide variant (intron variant)	ASPM-related disorder +3 more	GBenign/Likely benign
Select item 284204	NM_018136.5(ASPM):c.3726A>G (p.Thr1242=)	ASPM	Single nucleotide variant (synonymous variant)	Microcephaly 5, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 157805	NM_018136.5(ASPM):c.3599-4A>G	ASPM	Single nucleotide variant (intron variant)	ASPM-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 21578	NM_018136.5(ASPM):c.3579T>A (p.Ser1193=)	ASPM	Single nucleotide variant (synonymous variant)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign
Select item 3031624	NM_018136.5(ASPM):c.3546A>T (p.Ser1182=)	ASPM	Single nucleotide variant (synonymous variant)	ASPM-related disorder	GLikely benign
Select item 518200	NM_018136.5(ASPM):c.3390+3A>G	ASPM	Single nucleotide variant (intron variant)	ASPM-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 21573	NM_018136.5(ASPM):c.3138G>A (p.Arg1046=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 157800	NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn)	ASPM (D990N)	Single nucleotide variant (missense variant)	ASPM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 157798	NM_018136.5(ASPM):c.2914T>G (p.Leu972Val)	ASPM (L972V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 21567	NM_018136.5(ASPM):c.2805T>C (p.Ser935=)	ASPM	Single nucleotide variant (synonymous variant)	ASPM-related disorder +3 more	GBenign/Likely benign
Select item 136424	NM_018136.5(ASPM):c.2751C>T (p.Ala917=)	ASPM	Single nucleotide variant (synonymous variant)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 261007	NM_018136.5(ASPM):c.2420-20G>A	ASPM	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 294646	NM_018136.5(ASPM):c.2267A>G (p.Tyr756Cys)	ASPM (Y756C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 281892	NM_018136.5(ASPM):c.2205G>A (p.Glu735=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95887	NM_018136.5(ASPM):c.2174-20T>C	ASPM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2632013	NM_018136.5(ASPM):c.2026+2C>G	ASPM	Single nucleotide variant (splice donor variant)	ASPM-related disorder	GPathogenic
Select item 726173	NM_018136.5(ASPM):c.2004C>T (p.Thr668=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 261006	NM_018136.5(ASPM):c.1989A>G (p.Ala663=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 157784	NM_018136.5(ASPM):c.1717C>T (p.Arg573Trp)	ASPM (R573W)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 3048651	NM_018136.5(ASPM):c.1599_1606del (p.Asn533fs)	ASPM (N533fs)	Deletion (frameshift variant)	ASPM-related disorder	GPathogenic
Select item 3020771	NM_018136.5(ASPM):c.1029T>C (p.Phe343=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 157769	NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys)	ASPM (T336K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 21624	NM_018136.5(ASPM):c.937A>G (p.Ile313Val)	ASPM (I313V)	Single nucleotide variant (missense variant)	ASPM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 157903	NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr)	ASPM (C302Y)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1623045	NM_018136.5(ASPM):c.861T>C (p.Asn287=)	ASPM	Single nucleotide variant (synonymous variant)	ASPM-related disorder +1 more	GLikely benign
Select item 95890	NM_018136.5(ASPM):c.849C>T (p.Ser283=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 157893	NM_018136.5(ASPM):c.844A>C (p.Asn282His)	ASPM (N282H)	Single nucleotide variant (missense variant)	ASPM-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 157855	NM_018136.5(ASPM):c.646G>A (p.Glu216Lys)	ASPM (E216K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 282730	NM_018136.5(ASPM):c.581C>A (p.Ala194Asp)	ASPM (A194D)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 95888	NM_018136.5(ASPM):c.441+14C>T	ASPM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 3028965	NM_018136.5(ASPM):c.247C>G (p.Pro83Ala)	ASPM, LOC129932155 (P83A)	Single nucleotide variant (missense variant)	ASPM-related disorder	GUncertain significance
Select item 157793	NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)	ASPM, LOC129932155 (A75T)	Single nucleotide variant (missense variant)	ASPM-related disorder +3 more	GBenign/Likely benign

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Items: 84