ClinVar for Gene (Select 259266) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234999	NM_018136.5(ASPM):c.3820C>T (p.Gln1274Ter)	ASPM (Q1274*)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
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 3234770	NM_018136.5(ASPM):c.486T>C (p.Ser162=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3130508	NM_018136.5(ASPM):c.9814G>A (p.Ala3272Thr)	ASPM (A3272T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130507	NM_018136.5(ASPM):c.9503A>G (p.Lys3168Arg)	ASPM (K1583R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130505	NM_018136.5(ASPM):c.9174C>G (p.Ile3058Met)	ASPM (I3058M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130503	NM_018136.5(ASPM):c.8668C>A (p.Gln2890Lys)	ASPM (Q2890K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130502	NM_018136.5(ASPM):c.8579A>G (p.Lys2860Arg)	ASPM (K2860R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3130500	NM_018136.5(ASPM):c.8059A>G (p.Asn2687Asp)	ASPM (N2687D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130498	NM_018136.5(ASPM):c.7661A>G (p.His2554Arg)	ASPM (H2554R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130497	NM_018136.5(ASPM):c.7606G>A (p.Val2536Ile)	ASPM (V2536I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130495	NM_018136.5(ASPM):c.7192A>G (p.Met2398Val)	ASPM (M173V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3130494	NM_018136.5(ASPM):c.715C>T (p.Leu239Phe)	ASPM (L239F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130493	NM_018136.5(ASPM):c.7093C>G (p.Gln2365Glu)	ASPM (Q140E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130492	NM_018136.5(ASPM):c.6712A>C (p.Lys2238Gln)	ASPM (K2238Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130491	NM_018136.5(ASPM):c.6319A>G (p.Ile2107Val)	ASPM (I2107V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3130490	NM_018136.5(ASPM):c.6302A>T (p.Gln2101Leu)	ASPM (Q2101L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130489	NM_018136.5(ASPM):c.6265G>A (p.Glu2089Lys)	ASPM (E2089K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130488	NM_018136.5(ASPM):c.6064G>A (p.Ala2022Thr)	ASPM (A2022T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130486	NM_018136.5(ASPM):c.5767G>A (p.Ala1923Thr)	ASPM (A1923T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130485	NM_018136.5(ASPM):c.5296A>G (p.Lys1766Glu)	ASPM (K1766E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130484	NM_018136.5(ASPM):c.5234G>A (p.Arg1745Gln)	ASPM (R1745Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130483	NM_018136.5(ASPM):c.5148A>T (p.Lys1716Asn)	ASPM (K1716N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130482	NM_018136.5(ASPM):c.4953G>A (p.Met1651Ile)	ASPM (M1651I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130481	NM_018136.5(ASPM):c.487A>G (p.Thr163Ala)	ASPM (T163A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130480	NM_018136.5(ASPM):c.4805A>G (p.Tyr1602Cys)	ASPM (Y1602C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130479	NM_018136.5(ASPM):c.4792C>A (p.Gln1598Lys)	ASPM (Q1598K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130478	NM_018136.5(ASPM):c.4670G>A (p.Cys1557Tyr)	ASPM (C1557Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130477	NM_018136.5(ASPM):c.4636G>A (p.Ala1546Thr)	ASPM (A1546T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130476	NM_018136.5(ASPM):c.4597A>G (p.Asn1533Asp)	ASPM (N1533D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130475	NM_018136.5(ASPM):c.4542A>G (p.Ile1514Met)	ASPM (I1514M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3130472	NM_018136.5(ASPM):c.3605C>A (p.Thr1202Asn)	ASPM (T1202N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130471	NM_018136.5(ASPM):c.3469C>T (p.Pro1157Ser)	ASPM (P1157S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130470	NM_018136.5(ASPM):c.3364G>A (p.Ala1122Thr)	ASPM (A1122T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130469	NM_018136.5(ASPM):c.3034G>T (p.Val1012Phe)	ASPM (V1012F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130468	NM_018136.5(ASPM):c.2939G>A (p.Arg980Gln)	ASPM (R980Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130467	NM_018136.5(ASPM):c.289G>A (p.Val97Met)	ASPM (V97M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3130465	NM_018136.5(ASPM):c.2679G>C (p.Leu893Phe)	ASPM (L893F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130464	NM_018136.5(ASPM):c.2620T>C (p.Tyr874His)	ASPM (Y874H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130463	NM_018136.5(ASPM):c.2334G>C (p.Met778Ile)	ASPM (M778I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130462	NM_018136.5(ASPM):c.2130A>G (p.Ile710Met)	ASPM (I710M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130461	NM_018136.5(ASPM):c.1772C>G (p.Thr591Arg)	ASPM (T591R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064892	NM_018136.5(ASPM):c.1598_1601del (p.Asn533fs)	ASPM (N533fs)	Microsatellite (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3064181	NM_018136.5(ASPM):c.3742-1G>C	ASPM	Single nucleotide variant (splice acceptor variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3064102	NM_018136.5(ASPM):c.2027-516G>T	ASPM	Single nucleotide variant (intron variant)	Microcephaly 5, primary, autosomal recessive	GLikely benign
Select item 3061948	NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter)	ASPM (Q1347*)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3048651	NM_018136.5(ASPM):c.1599_1606del (p.Asn533fs)	ASPM (N533fs)	Deletion (frameshift variant)	ASPM-related disorder	GPathogenic
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 3033823	NM_018136.5(ASPM):c.9830-8del	ASPM	Deletion (intron variant)	ASPM-related disorder	GLikely benign
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 3030764	NM_018136.5(ASPM):c.9087A>G (p.Arg3029=)	ASPM	Single nucleotide variant (synonymous variant)	ASPM-related disorder	GLikely 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 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 3023119	NM_018136.5(ASPM):c.718dup (p.Ser240fs)	ASPM (S240fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3020795	NM_018136.5(ASPM):c.2488-12A>C	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3020691	NM_018136.5(ASPM):c.4083T>C (p.Tyr1361=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3016338	NM_018136.5(ASPM):c.3588A>G (p.Ala1196=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015515	NM_018136.5(ASPM):c.2158dup (p.Thr720fs)	ASPM (T720fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3014942	NM_018136.5(ASPM):c.2954_2955del (p.Leu985fs)	ASPM (L985fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3013934	NM_018136.5(ASPM):c.7134G>A (p.Arg2378=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3011733	NM_018136.5(ASPM):c.691dup (p.Cys231fs)	ASPM (C231fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3010935	NM_018136.5(ASPM):c.4926A>G (p.Ala1642=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009420	NM_018136.5(ASPM):c.2634T>C (p.His878=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006761	NM_018136.5(ASPM):c.4691G>T (p.Cys1564Phe)	ASPM (C1564F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003790	NM_018136.5(ASPM):c.7848C>T (p.Asn2616=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3003249	NM_018136.5(ASPM):c.8988-7T>C	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002071	NM_018136.5(ASPM):c.9829+10T>C	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999076	NM_018136.5(ASPM):c.3742-15G>C	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997229	NM_018136.5(ASPM):c.8261_8264del (p.Val2754fs)	ASPM (V2754fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2995490	NM_018136.5(ASPM):c.8988-15A>G	ASPM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2995126	NM_018136.5(ASPM):c.1680C>T (p.Asn560=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993693	NM_018136.5(ASPM):c.9679A>C (p.Thr3227Pro)	ASPM (T3227P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993142	NM_018136.5(ASPM):c.9624C>A (p.Ile3208=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992747	NM_018136.5(ASPM):c.2003C>A (p.Thr668Asn)	ASPM (T668N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990123	NM_018136.5(ASPM):c.2562C>G (p.Arg854=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989595	NM_018136.5(ASPM):c.8283A>G (p.Val2761=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987144	NM_018136.5(ASPM):c.2760+12A>G	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981378	NM_018136.5(ASPM):c.27C>G (p.Gly9=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2980056	NM_018136.5(ASPM):c.1450A>G (p.Asn484Asp)	ASPM (N484D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978160	NM_018136.5(ASPM):c.4407del (p.Ile1470fs)	ASPM (I1470fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2977769	NM_018136.5(ASPM):c.5916A>G (p.Lys1972=)	ASPM	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2976499	NM_018136.5(ASPM):c.2629+11C>T	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972470	NM_018136.5(ASPM):c.510A>C (p.Ser170=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970682	NM_018136.5(ASPM):c.6075A>G (p.Val2025=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2966906	NM_018136.5(ASPM):c.3599-20C>T	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962435	NM_018136.5(ASPM):c.8049G>A (p.Lys2683=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962182	NM_018136.5(ASPM):c.8820+17_8820+21del	ASPM	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2957501	NM_018136.5(ASPM):c.8987+11A>G	ASPM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954950	NM_018136.5(ASPM):c.7414A>T (p.Met2472Leu)	ASPM (M2472L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2910655	NM_018136.5(ASPM):c.4066-4C>T	ASPM	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2910130	NM_018136.5(ASPM):c.3185_3189del (p.Asn1062fs)	ASPM (N1062fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2909796	NM_018136.5(ASPM):c.5992C>T (p.Leu1998Phe)	ASPM (L1998F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909795	NM_018136.5(ASPM):c.8165A>G (p.Tyr2722Cys)	ASPM (Y2722C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2906609	NM_018136.5(ASPM):c.5784G>C (p.Gln1928His)	ASPM (Q1928H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2895696	NM_018136.5(ASPM):c.1141G>A (p.Asp381Asn)	ASPM (D381N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892658	NM_018136.5(ASPM):c.9123A>G (p.Arg3041=)	ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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