"GeneDx"[submitter] AND "TUBB6"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 326100	NM_006796.3(AFG3L2):c.*109A>C	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 326101	NM_006796.3(AFG3L2):c.*28G>C	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	Optic atrophy 12 +3 more	GBenign
Select item 384240	NM_006796.3(AFG3L2):c.*16C>T	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 136316	NM_006796.3(AFG3L2):c.*2G>A	AFG3L2, TUBB6	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 451875	NM_006796.3(AFG3L2):c.2392T>C (p.Ter798Gln)	AFG3L2, TUBB6	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 682373	NM_006796.3(AFG3L2):c.2382A>G (p.Lys794=)	AFG3L2, TUBB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3253173	NM_006796.3(AFG3L2):c.2375del (p.Gly792fs)	AFG3L2, TUBB6 (G792fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 214058	NM_006796.3(AFG3L2):c.2348G>A (p.Arg783Gln)	TUBB6, AFG3L2 (R783Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423779	NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp)	AFG3L2, TUBB6 (R783W)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 28 +1 more	GUncertain significance
Select item 1256165	NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile)	AFG3L2, TUBB6 (L772I)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 28 +3 more	GUncertain significance
Select item 214057	NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)	AFG3L2, TUBB6 (L772F)	Single nucleotide variant (missense variant +1 more)	Spastic ataxia 5 +3 more	GConflicting classifications of pathogenicity
Select item 2249228	NM_006796.3(AFG3L2):c.2252C>T (p.Ala751Val)	AFG3L2, TUBB6 (A751V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2663739	NM_006796.3(AFG3L2):c.2218G>C (p.Asp740His)	TUBB6, AFG3L2 (D740H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 733398	NM_006796.3(AFG3L2):c.2195A>G (p.Glu732Gly)	AFG3L2, TUBB6 (E732G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 450638	NM_006796.3(AFG3L2):c.2185C>G (p.Leu729Val)	AFG3L2, TUBB6 (L729V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253656	GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1	ANKRD62, MC2R +63 more	Copy number loss	See cases	GPathogenic
Select item 253619	GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1	NDUFV2, CETN1 +65 more	Copy number loss	See cases	GPathogenic
Select item 253449	GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4	POTEC, LRRC30 +65 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 21