"GeneDx"[submitter] AND "LOC129995635"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 515428	NM_001069.3(TUBB2A):c.12C>A (p.Ile4=)	LOC129995635, TUBB2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3342978	NM_001069.3(TUBB2A):c.7G>A (p.Glu3Lys)	LOC129995635, TUBB2A (E3K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2663576	NM_001069.3(TUBB2A):c.-6G>T	LOC129995635, TUBB2A	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1195622	NC_000006.12:g.3157551G>A	LOC129995635, TUBB2A	Single nucleotide variant	not provided	GLikely benign
Select item 1262018	NC_000006.12:g.3157554C>T	LOC129995635, TUBB2A	Single nucleotide variant	not provided	GBenign
Select item 1182513	NC_000006.12:g.3157564G>A	TUBB2A, LOC129995635	Single nucleotide variant	not provided	GBenign
Select item 1247019	NC_000006.12:g.3157575C>T	LOC129995635, TUBB2A	Single nucleotide variant	not provided	GBenign
Select item 1271097	NC_000006.12:g.3157620T>C	LOC129995635, TUBB2A	Single nucleotide variant	not provided	GBenign
Select item 1296154	NC_000006.12:g.3157688G>C	LOC129995635, TUBB2A	Single nucleotide variant	not provided	GBenign
Select item 1231021	NC_000006.12:g.3157741T>C	LOC129995635, TUBB2A	Single nucleotide variant	not provided	GBenign
Select item 1217955	NC_000006.12:g.3157804del	LOC129995635, TUBB2A	Deletion	not provided	GLikely benign