"GeneDx"[submitter] AND "TUBA4A"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 1227287	NM_006000.3(TUBA4A):c.*48G>A	STK16, TUBA4A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1194569	NM_006000.3(TUBA4A):c.1311C>T (p.Ile437=)	TUBA4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340179	NM_006000.3(TUBA4A):c.1221G>A (p.Trp407Ter)	TUBA4A (W392* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1230337	NM_006000.3(TUBA4A):c.1155C>T (p.Ala385=)	TUBA4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720914	NM_006000.3(TUBA4A):c.999C>T (p.Ala333=)	TUBA4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 180182	NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys)	TUBA4A (R320C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 789160	NM_006000.3(TUBA4A):c.909A>G (p.Val303=)	TUBA4A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2428870	NM_006000.3(TUBA4A):c.897C>T (p.Ala299=)	TUBA4A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 818052	NM_006000.3(TUBA4A):c.761_762del (p.Glu254fs)	TUBA4A (E239fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 180185	NM_006000.3(TUBA4A):c.643C>T (p.Arg215Cys)	TUBA4A (R215C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722478	NM_006000.3(TUBA4A):c.541G>A (p.Val181Met)	TUBA4A (V166M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 720767	NM_006000.3(TUBA4A):c.324T>C (p.Tyr108=)	TUBA4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2578200	NM_006000.3(TUBA4A):c.313C>T (p.Arg105Cys)	TUBA4A (R105C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1304759	NM_006000.3(TUBA4A):c.270G>A (p.Glu90=)	TUBA4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1274783	NM_006000.3(TUBA4A):c.227-74C>A	TUBA4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804601	NM_006000.3(TUBA4A):c.130G>A (p.Gly44Arg)	TUBA4A (G29R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312962	NM_006000.3(TUBA4A):c.83A>G (p.His28Arg)	TUBA4A (H13R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1250583	NM_006000.3(TUBA4A):c.4-92T>C	TUBA4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253851	NM_006000.3(TUBA4A):c.4-120C>G	TUBA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195677	NM_006000.3(TUBA4A):c.4-254C>T	TUBA4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220964	NM_006000.3(TUBA4A):c.4-320dup	TUBA4A	Duplication (intron variant)	not provided	GBenign
Select item 1206638	NM_006000.3(TUBA4A):c.4-320_4-319dup	TUBA4A	Duplication (intron variant)	not provided	GLikely benign
Select item 1241623	NM_006000.3(TUBA4A):c.4-312_4-311insT	TUBA4A	Insertion (intron variant)	not provided	GBenign
Select item 1195229	NM_006000.3(TUBA4A):c.4-311del	TUBA4A	Deletion (intron variant)	not provided	GLikely benign
Select item 1221267	NM_006000.3(TUBA4A):c.4-312G>C	TUBA4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233199	NM_006000.3(TUBA4A):c.4-318_4-317insT	TUBA4A	Insertion (intron variant)	not provided	GBenign
Select item 1218136	NM_006000.3(TUBA4A):c.3+98T>C	TUBA4A, TUBA4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186396	NM_006000.3(TUBA4A):c.3+83del	TUBA4A, TUBA4B	Deletion (intron variant)	not provided	GLikely benign
Select item 1237057	NM_006000.3(TUBA4A):c.3+47C>G	TUBA4A, TUBA4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235911	NM_001278552.2(TUBA4A):c.-43+144dup	TUBA4A, TUBA4B +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1241194	NM_001278552.2(TUBA4A):c.-43+144del	LOC129935646, TUBA4A +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1181267	NM_001278552.2(TUBA4A):c.-43+62C>A	LOC129935646, TUBA4A +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260536	NM_001278552.2(TUBA4A):c.-43+35A>C	LOC129935646, TUBA4A +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257920	NM_001278552.2(TUBA4A):c.-201C>A	TUBA4A, TUBA4B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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Items: 35