LOC129932155[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 146109	GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1	ASPM, CFH +36 more	Copy number loss	See cases	GPathogenic
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 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 1501969	NM_018136.5(ASPM):c.249G>A (p.Pro83=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 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 157793	NM_018136.5(ASPM):c.223G>A (p.Ala75Thr)	ASPM, LOC129932155 (A75T)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 1501171	NM_018136.5(ASPM):c.203A>G (p.Asp68Gly)	LOC129932155, ASPM (D68G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 294657	NM_018136.5(ASPM):c.193C>A (p.Leu65Met)	ASPM, LOC129932155 (L65M)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
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 2639708	NM_018136.5(ASPM):c.186G>C (p.Thr62=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 390874	NM_018136.5(ASPM):c.177C>G (p.Ala59=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided +1 more	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 975497	NM_018136.5(ASPM):c.170T>C (p.Leu57Pro)	ASPM, LOC129932155 (L57P)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
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 2180479	NM_018136.5(ASPM):c.153C>T (p.Cys51=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 157778	NM_018136.5(ASPM):c.117_118del (p.Leu41fs)	ASPM, LOC129932155 (L41fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GPathogenic
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 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 1926303	NM_018136.5(ASPM):c.108G>C (p.Pro36=)	ASPM, LOC129932155	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

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Items: 27