Related gene-specific medical variations for Gene (Select 80086) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061822	NM_001355221.1(TUBA4B):c.12+147G>C	TUBA4A, TUBA4B	Single nucleotide variant (intron variant)	Ptosis	GUncertain significance
Select item 1260536	NM_001355221.1(TUBA4B):c.12+641T>G	LOC129935646, TUBA4A +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257920	NM_001355221.1(TUBA4B):c.12+834G>T	TUBA4A, TUBA4B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1241194	NM_001355221.1(TUBA4B):c.12+541del	LOC129935646, TUBA4A +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1237057	NM_001355221.1(TUBA4B):c.12+390G>C	TUBA4A, TUBA4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235911	NM_001355221.1(TUBA4B):c.12+541dup	LOC129935646, TUBA4A +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1218136	NM_001355221.1(TUBA4B):c.12+339A>G	TUBA4A, TUBA4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186396	NM_001355221.1(TUBA4B):c.12+357del	TUBA4B, TUBA4A	Deletion (intron variant)	not provided	GLikely benign
Select item 1181267	NM_001355221.1(TUBA4B):c.12+614G>T	TUBA4A, TUBA4B +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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