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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061822	NM_006000.3(TUBA4A):c.3+290C>G	TUBA4A, TUBA4B	Single nucleotide variant (intron variant)	Ptosis	GUncertain significance
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
Select item 1241194	NM_001278552.2(TUBA4A):c.-43+144del	LOC129935646, TUBA4A +1 more	Deletion (intron variant)	not provided	GBenign
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 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 1181267	NM_001278552.2(TUBA4A):c.-43+62C>A	LOC129935646, TUBA4A +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign

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