ClinVar for Gene (Select 80086) - ClinVar - NCBI

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Links from Gene

Items: 18

	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	TUBA4B, LOC129935646 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257920	NM_001355221.1(TUBA4B):c.12+834G>T	TUBA4B, TUBA4A	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	LOC129935646, TUBA4A +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic