Related gene-specific medical variations for Gene (Select 55714) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2665030	NM_001080477.4(TENM3):c.749+4836T>G	TENM3	Single nucleotide variant (intron variant)	Microphthalmia, isolated, with coloboma 9	GUncertain significance
Select item 2665029	NM_001080477.4(TENM3):c.631A>G (p.Arg211Gly)	TENM3 (R118G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Microphthalmia, isolated, with coloboma 9	GUncertain significance
Select item 2437034	NM_001080477.4(TENM3):c.7964A>G (p.Lys2655Arg)	TENM3 (K1001R +12 more)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with coloboma 9	GUncertain significance
Select item 1340771	GRCh37/hg19 4q34.3-35.1(chr4:180650411-183647536)x1	TENM3	Copy number loss	not provided	GUncertain significance
Select item 563007	GRCh37/hg19 4q35.1(chr4:183259550-183613837)x3	TENM3	Copy number gain	not provided	GUncertain significance
Select item 442640	GRCh37/hg19 4q34.3-35.1(chr4:182649810-183252608)x3	TENM3	Copy number gain	See cases	GUncertain significance
Select item 442178	GRCh37/hg19 4q35.1(chr4:183214583-183488926)x1	TENM3	Copy number loss	See cases	GLikely benign
Select item 257354	NM_001080477.4(TENM3):c.5913T>C (p.Asp1971=)	TENM3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

ClinVar