Related gene-specific medical variations for Gene (Select 84233) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1292287	NM_032273.4(TMEM126A):c.-8+121A>G	LOC130006551, TMEM126A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224280	NM_032273.4(TMEM126A):c.-8+80A>C	LOC130006551, TMEM126A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 883047	NM_032273.4(TMEM126A):c.-98C>G	LOC130006551, TMEM126A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive optic atrophy, OPA7 type	GUncertain significance
Select item 513170	NM_032273.4(TMEM126A):c.-8+20G>C	LOC130006551, TMEM126A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 508409	NM_032273.4(TMEM126A):c.-12A>G	LOC130006551, TMEM126A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 493100	NM_032273.4(TMEM126A):c.107C>T (p.Ser36Leu)	TMEM126A (S36L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 306322	NM_032273.4(TMEM126A):c.-16G>C	LOC130006551, TMEM126A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive optic atrophy, OPA7 type	GUncertain significance
Select item 306320	NM_032273.4(TMEM126A):c.-69T>A	LOC130006551, TMEM126A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive optic atrophy, OPA7 type +1 more	GBenign
Select item 215269	NM_032273.4(TMEM126A):c.-46_-45insACCG	LOC130006551, TMEM126A	Insertion (5 prime UTR variant)	not provided +1 more	GBenign

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