"Revvity Omics, Revvity"[submitter] AND "ASPM"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 294595	NM_018136.5(ASPM):c.10096G>A (p.Gly3366Arg)	ASPM (G3366R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 157919	NM_018136.5(ASPM):c.9911G>A (p.Arg3304Gln)	ASPM (R3304Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 1014977	NM_018136.5(ASPM):c.9592C>T (p.Arg3198Cys)	ASPM (R1613C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 452686	NM_018136.5(ASPM):c.9294+2T>C	ASPM	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 234260	NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg)	ASPM (M2752R)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 977866	NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)	ASPM (R2732fs)	Microsatellite (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	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 157875	NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)	ASPM (S2557C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 294612	NM_018136.5(ASPM):c.7372A>G (p.Arg2458Gly)	ASPM (R2458G)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
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 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 1375337	NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys)	ASPM (G2156C)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	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 157850	NM_018136.5(ASPM):c.6125A>G (p.Asp2042Gly)	ASPM (D2042G)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 279957	NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs)	ASPM (I1894fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
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 157835	NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp)	ASPM (G1837D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1524012	NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr)	ASPM (I1778T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 1338429	NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter)	ASPM (R1538*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
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 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 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 2231517	NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val)	ASPM (I1375V)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 157817	NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del)	ASPM (Y1373del)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 2439266	NM_018136.5(ASPM):c.3577_3579delinsCCA (p.Ser1193Pro)	ASPM (S1193P)	Indel (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 1029518	NM_018136.5(ASPM):c.3282_3285del (p.Asn1095fs)	ASPM (N1095fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 21571	NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter)	ASPM (R1019*)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 434410	NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu)	ASPM (K993E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 157797	NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)	ASPM (R931*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1323512	NM_018136.5(ASPM):c.2581dup (p.Ile861fs)	ASPM (I861fs)	Duplication (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GPathogenic
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 4965	NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)	ASPM (R797*)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
Select item 598452	NM_018136.5(ASPM):c.2103G>A (p.Gln701=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 157789	NM_018136.5(ASPM):c.1949C>G (p.Ser650Cys)	ASPM (S650C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 2690547	NM_018136.5(ASPM):c.1485dup (p.Thr496fs)	ASPM (T496fs)	Duplication (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 157777	NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)	ASPM (Q380*)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 765135	NM_018136.5(ASPM):c.582T>C (p.Ala194=)	ASPM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1323530	NM_018136.5(ASPM):c.434del (p.Lys145fs)	ASPM (K145fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GPathogenic

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Items: 56