TUBA1C[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 2672502	NM_001303115.2(TUBA1C):c.-465C>T	TUBA1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2334872	NM_032704.5(TUBA1C):c.19A>G (p.Ile7Val)	TUBA1C (I77V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240993	NM_032704.5(TUBA1C):c.128G>T (p.Gly43Val)	TUBA1C (G43V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545939	NM_032704.5(TUBA1C):c.349C>T (p.Leu117Phe)	TUBA1C (L117F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476529	NM_032704.5(TUBA1C):c.452C>G (p.Ser151Trp)	TUBA1C (S151W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454707	NM_032704.5(TUBA1C):c.634A>C (p.Ile212Leu)	TUBA1C (I177L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642968	NM_032704.5(TUBA1C):c.663C>T (p.Arg221=)	TUBA1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233965	NM_032704.5(TUBA1C):c.782C>G (p.Pro261Arg)	TUBA1C (P261R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384772	NM_032704.5(TUBA1C):c.922C>T (p.Arg308Cys)	TUBA1C (R308C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223839	NM_032704.5(TUBA1C):c.1015C>T (p.Arg339Cys)	TUBA1C (R304C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305481	NM_032704.5(TUBA1C):c.1072C>G (p.Gln358Glu)	TUBA1C (Q323E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327493	NM_032704.5(TUBA1C):c.1159G>A (p.Ala387Thr)	TUBA1C (A352T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284394	NM_032704.5(TUBA1C):c.1214T>C (p.Val405Ala)	TUBA1C (V405A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425458	NC_000012.11:g.(?_49578793)_(49676010_?)dup	TUBA1C, TUBA1A	Duplication	not provided	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 979966	GRCh37/hg19 12q13.12(chr12:49584942-49910016)x3	PRPH, DNAJC22 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394537	GRCh37/hg19 12q13.12(chr12:49667030-49692424)x1	PRPH, TUBA1C	Copy number loss	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24