"Ambry Genetics"[submitter] AND "TMEM126A"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1058366	NM_032273.4(TMEM126A):c.20A>T (p.Asn7Ile)	TMEM126A (N7I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 883048	NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser)	TMEM126A (N7S)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive optic atrophy, OPA7 type +2 more	GUncertain significance
Select item 1042234	NM_032273.4(TMEM126A):c.80C>G (p.Ala27Gly)	TMEM126A (A27G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2319101	NM_032273.4(TMEM126A):c.136T>C (p.Cys46Arg)	TMEM126A (C46R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1914204	NM_032273.4(TMEM126A):c.166C>T (p.Arg56Cys)	TMEM126A (R56C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1522589	NM_032273.4(TMEM126A):c.239A>C (p.Asp80Ala)	TMEM126A (D10A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 498587	NM_032273.4(TMEM126A):c.367A>G (p.Ile123Val)	TMEM126A (I123V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 883827	NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr)	TMEM126A (I53T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3178532	NM_032273.4(TMEM126A):c.389C>T (p.Ala130Val)	TMEM126A (A130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 938215	NM_032273.4(TMEM126A):c.431T>C (p.Ile144Thr)	TMEM126A (I74T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3326690	NM_032273.4(TMEM126A):c.437G>A (p.Ser146Asn)	TMEM126A (S146N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3326691	NM_032273.4(TMEM126A):c.449G>A (p.Arg150Lys)	TMEM126A (R80K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance