ClinVar for Gene (Select 259266) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3437187	NM_018136.5(ASPM):c.3887C>T (p.Ala1296Val)	ASPM (A1296V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3437182	NM_018136.5(ASPM):c.5014A>C (p.Lys1672Gln)	ASPM (K1672Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437179	NM_018136.5(ASPM):c.2872T>G (p.Phe958Val)	ASPM (F958V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3437175	NM_018136.5(ASPM):c.1456C>A (p.Gln486Lys)	ASPM (Q486K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3437167	NM_018136.5(ASPM):c.7245G>C (p.Gln2415His)	ASPM (Q2415H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437163	NM_018136.5(ASPM):c.2384T>C (p.Ile795Thr)	ASPM (I795T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3437158	NM_018136.5(ASPM):c.4168T>A (p.Tyr1390Asn)	ASPM (Y1390N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437152	NM_018136.5(ASPM):c.8725A>G (p.Ile2909Val)	ASPM (I2909V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437149	NM_018136.5(ASPM):c.206A>G (p.Asn69Ser)	ASPM, LOC129932155 (N69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3437146	NM_018136.5(ASPM):c.821A>T (p.Lys274Ile)	ASPM (K274I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3437144	NM_018136.5(ASPM):c.5272C>G (p.Leu1758Val)	ASPM (L1758V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437142	NM_018136.5(ASPM):c.9979T>G (p.Ser3327Ala)	ASPM (S1742A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3437139	NM_018136.5(ASPM):c.10223A>G (p.His3408Arg)	ASPM (H1823R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3437133	NM_018136.5(ASPM):c.3641A>C (p.Lys1214Thr)	ASPM (K1214T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3437113	NM_018136.5(ASPM):c.6088G>A (p.Ala2030Thr)	ASPM (A2030T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437109	NM_018136.5(ASPM):c.5015A>T (p.Lys1672Ile)	ASPM (K1672I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437103	NM_018136.5(ASPM):c.2339A>C (p.Lys780Thr)	ASPM (K780T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3437099	NM_018136.5(ASPM):c.8099G>T (p.Arg2700Leu)	ASPM (R2700L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437092	NM_018136.5(ASPM):c.893T>G (p.Leu298Arg)	ASPM (L298R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3437086	NM_018136.5(ASPM):c.4966C>T (p.Leu1656Phe)	ASPM (L1656F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437082	NM_018136.5(ASPM):c.1212G>T (p.Met404Ile)	ASPM (M404I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3437075	NM_018136.5(ASPM):c.5669T>C (p.Val1890Ala)	ASPM (V1890A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437071	NM_018136.5(ASPM):c.59_98del (p.Pro20fs)	ASPM, LOC129932155 (P20fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3437067	NM_018136.5(ASPM):c.5324A>G (p.Tyr1775Cys)	ASPM (Y1775C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3437049	NM_018136.5(ASPM):c.10177T>G (p.Ser3393Ala)	ASPM (S3393A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3437036	NM_018136.5(ASPM):c.5998A>G (p.Ile2000Val)	ASPM (I2000V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437022	NM_018136.5(ASPM):c.5459T>C (p.Leu1820Pro)	ASPM (L1820P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437009	NM_018136.5(ASPM):c.1003G>A (p.Val335Ile)	ASPM (V335I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3437005	NM_018136.5(ASPM):c.6479G>A (p.Arg2160His)	ASPM (R2160H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3437002	NM_018136.5(ASPM):c.5176A>G (p.Met1726Val)	ASPM (M1726V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3436998	NM_018136.5(ASPM):c.4981A>C (p.Lys1661Gln)	ASPM (K1661Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3436996	NM_018136.5(ASPM):c.7897A>G (p.Lys2633Glu)	ASPM (K2633E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3436989	NM_018136.5(ASPM):c.2825G>A (p.Arg942His)	ASPM (R942H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3436979	NM_018136.5(ASPM):c.1700C>T (p.Thr567Ile)	ASPM (T567I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3436961	NM_018136.5(ASPM):c.6538G>A (p.Val2180Ile)	ASPM (V2180I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3436940	NM_018136.5(ASPM):c.91G>A (p.Glu31Lys)	ASPM, LOC129932155 (E31K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3436931	NM_018136.5(ASPM):c.3449A>G (p.His1150Arg)	ASPM (H1150R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3436926	NM_018136.5(ASPM):c.1006A>G (p.Thr336Ala)	ASPM (T336A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3393037	NM_018136.5(ASPM):c.3599-1G>A	ASPM	Single nucleotide variant (splice acceptor variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3391195	NM_018136.5(ASPM):c.3904G>T (p.Ala1302Ser)	ASPM (A1302S)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 3385334	NM_018136.5(ASPM):c.8720T>G (p.Leu2907Ter)	ASPM (L2907*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 3384969	NM_018136.5(ASPM):c.6107_6110del (p.Val2036fs)	ASPM (V2036fs)	Deletion (frameshift variant +1 more)	Autosomal recessive primary microcephaly	GPathogenic
Select item 3382981	NM_018136.5(ASPM):c.7543C>T (p.Arg2515Ter)	ASPM (R2515*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 3382845	NM_018136.5(ASPM):c.8450C>A (p.Ala2817Asp)	ASPM (A2817D)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 3382130	NM_018136.5(ASPM):c.8227C>T (p.Arg2743Ter)	ASPM (R2743*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 3382116	NM_018136.5(ASPM):c.5206C>T (p.Gln1736Ter)	ASPM (Q1736*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3381868	NM_018136.5(ASPM):c.7850dup (p.Gln2620fs)	ASPM (Q2620fs)	Duplication (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3377584	NM_018136.5(ASPM):c.10235T>C (p.Met3412Thr)	ASPM (M1827T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 3377568	NM_018136.5(ASPM):c.2982del (p.Lys994fs)	ASPM (K994fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3371957	NM_018136.5(ASPM):c.1268del (p.Pro423fs)	ASPM (P423fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3370968	NM_018136.5(ASPM):c.1649C>G (p.Pro550Arg)	ASPM (P550R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369141	NM_018136.5(ASPM):c.9407del (p.Asn3136fs)	ASPM (N1551fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3318742	NM_018136.5(ASPM):c.2377C>T (p.Arg793Trp)	ASPM (R793W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318731	NM_018136.5(ASPM):c.5252A>G (p.Gln1751Arg)	ASPM (Q1751R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 3318686	NM_018136.5(ASPM):c.385G>A (p.Val129Ile)	ASPM (V129I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3318678	NM_018136.5(ASPM):c.4832T>A (p.Ile1611Lys)	ASPM (I1611K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318669	NM_018136.5(ASPM):c.2450T>C (p.Leu817Ser)	ASPM (L817S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318659	NM_018136.5(ASPM):c.7010C>T (p.Ala2337Val)	ASPM (A2337V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318648	NM_018136.5(ASPM):c.5900T>A (p.Leu1967His)	ASPM (L1967H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318637	NM_018136.5(ASPM):c.3319G>C (p.Glu1107Gln)	ASPM (E1107Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318626	NM_018136.5(ASPM):c.6831G>C (p.Met2277Ile)	ASPM (M2277I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318615	NM_018136.5(ASPM):c.4852G>A (p.Ala1618Thr)	ASPM (A1618T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318604	NM_018136.5(ASPM):c.6134A>G (p.Lys2045Arg)	ASPM (K2045R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3318594	NM_018136.5(ASPM):c.1646A>G (p.Asp549Gly)	ASPM (D549G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318584	NM_018136.5(ASPM):c.6676A>G (p.Met2226Val)	ASPM (M2226V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3318566	NM_018136.5(ASPM):c.9545A>G (p.Asn3182Ser)	ASPM (N1597S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318545	NM_018136.5(ASPM):c.9491A>G (p.Tyr3164Cys)	ASPM (Y1579C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3318521	NM_018136.5(ASPM):c.8099G>A (p.Arg2700Gln)	ASPM (R2700Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257572	NM_018136.5(ASPM):c.8469_8472delinsGC (p.Ala2824fs)	ASPM (A2824fs)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 3254709	NM_018136.5(ASPM):c.2715_2717delinsAATGAGTC (p.Ile906fs)	ASPM (I906fs)	Indel (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 3251028	NM_018136.5(ASPM):c.9743_9744del (p.Lys3248fs)	ASPM (K1663fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3239560	NM_018136.5(ASPM):c.8263del (p.Arg2755fs)	ASPM (R2755fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3237166	NM_018136.5(ASPM):c.9664A>T (p.Lys3222Ter)	ASPM (K1637* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GPathogenic
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)	not provided +1 more	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 (M2398V)	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 (Q2365E)	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)	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

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