"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ASPM"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1345972	NM_018136.5(ASPM):c.10222C>T (p.His3408Tyr)	ASPM (H1823Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 157772	NM_018136.5(ASPM):c.10162-7T>A	ASPM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 234723	NM_018136.5(ASPM):c.10057T>C (p.Tyr3353His)	ASPM (Y3353H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 21638	NM_018136.5(ASPM):c.9773A>G (p.His3258Arg)	ASPM (H3258R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 643176	NM_018136.5(ASPM):c.9324del (p.Leu3109fs)	ASPM (L1524fs +1 more)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive +3 more	GPathogenic/Likely pathogenic
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 157900	NM_018136.5(ASPM):c.8820+7C>G	ASPM	Single nucleotide variant (intron variant)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 194877	NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp)	ASPM (R2690W)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 157883	NM_018136.5(ASPM):c.7917A>G (p.Lys2639=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
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 136427	NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter)	ASPM (L2522*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GBenign/Likely benign
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 157857	NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu)	ASPM (V2243L)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 523815	NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter)	ASPM (Q2190*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
Select item 234256	NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile)	ASPM (N2092I)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 157851	NM_018136.5(ASPM):c.6131A>G (p.Asn2044Ser)	ASPM (N2044S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 157844	NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)	ASPM (M1983L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 157841	NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg)	ASPM (C1941R)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 288754	NM_018136.5(ASPM):c.5351A>G (p.Tyr1784Cys)	ASPM (Y1784C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 497240	NM_018136.5(ASPM):c.5302C>T (p.Arg1768Trp)	ASPM (R1768W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 136426	NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu)	ASPM (Q1736E)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 95889	NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp)	ASPM (R1729W)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 585446	NM_018136.5(ASPM):c.4520A>G (p.Tyr1507Cys)	ASPM (Y1507C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 157823	NM_018136.5(ASPM):c.4496G>T (p.Arg1499Leu)	ASPM (R1499L)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 157821	NM_018136.5(ASPM):c.4445G>A (p.Arg1482Gln)	ASPM (R1482Q)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 210356	NM_018136.5(ASPM):c.4214G>A (p.Arg1405His)	ASPM (R1405H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 157818	NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)	ASPM (R1405C)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 294635	NM_018136.5(ASPM):c.3791G>A (p.Arg1264His)	ASPM (R1264H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 157808	NM_018136.5(ASPM):c.3741+3A>G	ASPM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 294639	NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe)	ASPM (S1189F)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 876902	NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp)	ASPM (G1104D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 21575	NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)	ASPM (S1090F)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign
Select item 280518	NM_018136.5(ASPM):c.3082+1G>C	ASPM	Single nucleotide variant (splice donor variant)	Microcephaly 5, primary, autosomal recessive +3 more	GPathogenic/Likely pathogenic
Select item 157800	NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn)	ASPM (D990N)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 234802	NM_018136.5(ASPM):c.2761G>T (p.Ala921Ser)	ASPM (A921S)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 198227	NM_018136.5(ASPM):c.2365A>G (p.Ile789Val)	ASPM (I789V)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +3 more	GUncertain significance
Select item 157792	NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu)	ASPM (I740L)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 1033471	NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu)	ASPM (S566L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 157781	NM_018136.5(ASPM):c.1451A>G (p.Asn484Ser)	ASPM (N484S)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 157780	NM_018136.5(ASPM):c.1388G>A (p.Ser463Asn)	ASPM (S463N)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 877002	NM_018136.5(ASPM):c.712C>T (p.Pro238Ser)	ASPM (P238S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 136425	NM_018136.5(ASPM):c.644A>C (p.Glu215Ala)	ASPM (E215A)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign

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Items: 42