LOC130001960[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 150247	GRCh38/hg38 9q21.33(chr9:84861055-86784049)x1	AGTPBP1, C9orf153 +31 more	Copy number loss	See cases	GUncertain significance
Select item 2440454	NM_001330701.2(AGTPBP1):c.-34+1G>A	AGTPBP1, LOC130001960	Single nucleotide variant (splice donor variant)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GLikely pathogenic
Select item 1201667	NM_001330701.2(AGTPBP1):c.-66del	AGTPBP1, LOC130001960 (R53fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2506621	NM_001330701.2(AGTPBP1):c.-87T>G	AGTPBP1, LOC130001960	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1306421	NM_001330701.2(AGTPBP1):c.-88_-87delinsTC	AGTPBP1, LOC130001960 (A45V)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1296972	NM_001330701.2(AGTPBP1):c.-87T>C	AGTPBP1, LOC130001960	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3056478	NM_001330701.2(AGTPBP1):c.-179GCC[4]	AGTPBP1, LOC130001960 (A19del)	Microsatellite (5 prime UTR variant)	AGTPBP1-related disorder	GBenign
Select item 3338243	NM_001330701.2(AGTPBP1):c.-185_-184insTCCAGCGCCGCCGCC	AGTPBP1, LOC130001960	Insertion (inframe_indel +1 more)	Neurodegeneration, childhood-onset, with cerebellar atrophy	GBenign
Select item 992321	NM_001286715.1(AGTPBP1):c.11_26dup (p.Ser9fs)	AGTPBP1, LOC130001960 (S9fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1308442	NM_001330701.2(AGTPBP1):c.-206G>A	AGTPBP1, LOC130001960 (A6T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 22