Related gene-specific medical variations for Gene (Select 259266) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2793883	NM_018136.5(ASPM):c.114C>T (p.Val38=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725058	NM_018136.5(ASPM):c.187C>T (p.Leu63=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690547	NM_018136.5(ASPM):c.1485dup (p.Thr496fs)	ASPM (T496fs)	Duplication (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2690546	NM_018136.5(ASPM):c.6811_6812del (p.Arg2271fs)	ASPM (R2271fs)	Microsatellite (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2690545	NM_018136.5(ASPM):c.6548dup (p.Arg2184fs)	ASPM (R2184fs)	Duplication (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
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 2688619	NM_018136.5(ASPM):c.8740A>C (p.Ile2914Leu)	ASPM (I2914L)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2688618	NM_018136.5(ASPM):c.2389C>G (p.Arg797Gly)	ASPM (R797G)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2687851	NM_018136.5(ASPM):c.5064T>N (p.Thr1688=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	not specified	GPathogenic
Select item 2639708	NM_018136.5(ASPM):c.186G>C (p.Thr62=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627051	NM_018136.5(ASPM):c.7811A>G (p.Lys2604Arg)	ASPM (K2604R)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2544525	NM_018136.5(ASPM):c.227A>G (p.Glu76Gly)	ASPM, LOC129932155 (E76G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439266	NM_018136.5(ASPM):c.3577_3579delinsCCA (p.Ser1193Pro)	ASPM (S1193P)	Indel (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439265	NM_018136.5(ASPM):c.441+5T>G	ASPM	Single nucleotide variant (intron variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439264	NM_018136.5(ASPM):c.9309A>T (p.Arg3103Ser)	ASPM (R1518S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439263	NM_018136.5(ASPM):c.2583A>G (p.Ile861Met)	ASPM (I861M)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439262	NM_018136.5(ASPM):c.9695T>C (p.Ile3232Thr)	ASPM (I1647T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439261	NM_018136.5(ASPM):c.6351C>T (p.His2117=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439259	NM_018136.5(ASPM):c.1879C>T (p.Arg627Cys)	ASPM (R627C)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439258	NM_018136.5(ASPM):c.3875G>A (p.Arg1292Lys)	ASPM (R1292K)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
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 2439256	NM_018136.5(ASPM):c.3387A>T (p.Lys1129Asn)	ASPM (K1129N)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439254	NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr)	ASPM (A1876T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439253	NM_018136.5(ASPM):c.4190C>T (p.Thr1397Ile)	ASPM (T1397I)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2435488	NM_018136.5(ASPM):c.4515del (p.Lys1505fs)	ASPM (K1505fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2400287	NM_018136.5(ASPM):c.86C>G (p.Ala29Gly)	ASPM, LOC129932155 (A29G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212362	NM_018136.5(ASPM):c.85G>C (p.Ala29Pro)	ASPM, LOC129932155 (A29P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180479	NM_018136.5(ASPM):c.153C>T (p.Cys51=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926303	NM_018136.5(ASPM):c.108G>C (p.Pro36=)	LOC129932155, ASPM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671738	NM_018136.5(ASPM):c.261G>C (p.Leu87=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501969	NM_018136.5(ASPM):c.249G>A (p.Pro83=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1501171	NM_018136.5(ASPM):c.203A>G (p.Asp68Gly)	ASPM, LOC129932155 (D68G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1323946	NM_018136.5(ASPM):c.9109del (p.Gln3037fs)	ASPM (Q1452fs +1 more)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 1323945	NM_018136.5(ASPM):c.9444+1G>T	ASPM	Single nucleotide variant (splice donor variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 1323530	NM_018136.5(ASPM):c.434del (p.Lys145fs)	ASPM (K145fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GPathogenic
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 1323515	NM_018136.5(ASPM):c.4451_4455del (p.Tyr1484fs)	ASPM (Y1484fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 1323512	NM_018136.5(ASPM):c.2581dup (p.Ile861fs)	ASPM (I861fs)	Duplication (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 1252074	NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe)	ASPM (I851F)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 1184540	NM_018136.5(ASPM):c.8365del (p.Ser2789fs)	ASPM (S2789fs)	Deletion (intron variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 1184539	NM_018136.5(ASPM):c.8794del (p.Ile2932fs)	ASPM (I2932fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 1012238	NM_018136.5(ASPM):c.2525_2531del (p.Ser842fs)	ASPM (S842fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 995273	NM_018136.5(ASPM):c.9C>A (p.Asn3Lys)	ASPM (N3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995272	NM_018136.5(ASPM):c.5409del (p.Ala1804fs)	ASPM (A1804fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 987074	NM_018136.5(ASPM):c.804_805del (p.Lys268fs)	ASPM (K268fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 977862	NM_018136.5(ASPM):c.250_252delinsCG (p.Ala84fs)	ASPM, LOC129932155 (A84fs)	Indel (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 975502	NM_018136.5(ASPM):c.761A>G (p.Glu254Gly)	ASPM (E254G)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975501	NM_018136.5(ASPM):c.1402_1406del (p.Asn468fs)	ASPM (N468fs)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance
Select item 975500	NM_018136.5(ASPM):c.9446G>T (p.Arg3149Ile)	ASPM (R1564I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975499	NM_018136.5(ASPM):c.9314A>G (p.Lys3105Arg)	ASPM (K1520R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
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 975497	NM_018136.5(ASPM):c.170T>C (p.Leu57Pro)	ASPM, LOC129932155 (L57P)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975495	NM_018136.5(ASPM):c.3168+7T>G	ASPM	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 874211	NM_018136.5(ASPM):c.128A>G (p.His43Arg)	ASPM, LOC129932155 (H43R)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 874210	NM_018136.5(ASPM):c.135C>T (p.Cys45=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 804546	NM_018136.5(ASPM):c.3173A>C (p.Asp1058Ala)	ASPM (D1058A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728819	NM_018136.5(ASPM):c.162C>T (p.Asp54=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598151	NM_018136.5(ASPM):c.174A>T (p.Gly58=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 445983	NM_018136.5(ASPM):c.7082C>G (p.Ser2361Cys)	ASPM (S2361C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 445836	NM_018136.5(ASPM):c.2120T>A (p.Leu707Ter)	ASPM (L707*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 390874	NM_018136.5(ASPM):c.177C>G (p.Ala59=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 294657	NM_018136.5(ASPM):c.193C>A (p.Leu65Met)	ASPM, LOC129932155 (L65M)	Single nucleotide variant (missense variant)	not provided +1 more	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
Select item 157778	NM_018136.5(ASPM):c.117_118del (p.Leu41fs)	ASPM, LOC129932155 (L41fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 157776	NM_018136.5(ASPM):c.112G>A (p.Val38Ile)	ASPM, LOC129932155 (V38I)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 38806	nsv930453	ASPM	Deletion	Microcephaly 5, primary, autosomal recessive	GPathogenic
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 21639	NM_018136.5(ASPM):c.9789T>A (p.Tyr3263Ter)	ASPM (Y3263* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21637	NM_018136.5(ASPM):c.9754del (p.Arg3252fs)	ASPM (R3252fs +1 more)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21636	NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs)	ASPM (Y3250fs +1 more)	Microsatellite (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 21633	NM_018136.5(ASPM):c.9686_9690del (p.Ile3229fs)	ASPM (I1644fs +1 more)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21631	NM_018136.5(ASPM):c.9677dup (p.Cys3226fs)	ASPM (C3226fs +1 more)	Duplication (frameshift variant)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21630	NM_018136.5(ASPM):c.9595A>T (p.Lys3199Ter)	ASPM (K3199* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21627	NM_018136.5(ASPM):c.9507del (p.Ile3170fs)	ASPM (I3170fs +1 more)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21623	NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter)	ASPM (R3107* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 21620	NM_018136.5(ASPM):c.9115_9118dup (p.Tyr3040fs)	ASPM (Y1455fs +1 more)	Duplication (frameshift variant)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21619	NM_018136.5(ASPM):c.8844del (p.Lys2949fs)	ASPM (K1364fs +1 more)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21618	NM_018136.5(ASPM):c.8668C>T (p.Gln2890Ter)	ASPM (Q2890*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21617	NM_018136.5(ASPM):c.8508_8509del (p.Lys2837fs)	ASPM (K2837fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21616	NM_018136.5(ASPM):c.848C>T (p.Ser283Phe)	ASPM (S283F)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21615	NM_018136.5(ASPM):c.8378del (p.Met2793fs)	ASPM (M2793fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21614	NM_018136.5(ASPM):c.8273T>A (p.Leu2758Ter)	ASPM (L2758*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21612	NM_018136.5(ASPM):c.8131_8132del (p.Lys2711fs)	ASPM (K2711fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21610	NM_018136.5(ASPM):c.7894C>T (p.Gln2632Ter)	ASPM (Q2632*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21608	NM_018136.5(ASPM):c.7860_7861del (p.Gln2620fs)	ASPM (Q2620fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21598	NM_018136.5(ASPM):c.7461T>A (p.Ile2487=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21597	NM_018136.5(ASPM):c.6732del (p.Tyr2245fs)	ASPM (Y2245fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21596	NM_018136.5(ASPM):c.6651_6654del (p.Thr2218fs)	ASPM (T2218fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21591	NM_018136.5(ASPM):c.5149del (p.Lys1716_Ile1717insTer)	ASPM	Deletion (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21589	NM_018136.5(ASPM):c.4858_4859del (p.Ile1620fs)	ASPM (I1620fs)	Microsatellite (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21585	NM_018136.5(ASPM):c.440del (p.Lys147fs)	ASPM (K147fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21584	NM_018136.5(ASPM):c.4074G>A (p.Trp1358Ter)	ASPM (W1358*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21579	NM_018136.5(ASPM):c.3663del (p.Arg1221fs)	ASPM (R1221fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21576	NM_018136.5(ASPM):c.3477_3481del (p.Ala1160fs)	ASPM (A1160fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	Gnot provided
Select item 21574	NM_018136.5(ASPM):c.3188T>G (p.Leu1063Ter)	ASPM (L1063*)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	Gnot provided

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