ClinVar for MedGen (Select 414112) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1692999	NM_032273.4(TMEM126A):c.329G>A (p.Gly110Asp)	TMEM126A (G110D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive optic atrophy, OPA7 type	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 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 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 880529	NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr)	TMEM126A (S188Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive optic atrophy, OPA7 type	GUncertain significance
Select item 306324	NM_032273.4(TMEM126A):c.502A>G (p.Met168Val)	TMEM126A (M168V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive optic atrophy, OPA7 type +1 more	GUncertain significance
Select item 306323	NM_032273.4(TMEM126A):c.487A>G (p.Ile163Val)	TMEM126A (I163V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive optic atrophy, OPA7 type +1 more	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 262022	NM_032273.4(TMEM126A):c.395+10A>G	TMEM126A	Single nucleotide variant (intron variant)	Autosomal recessive optic atrophy, OPA7 type +2 more	GBenign
Select item 215271	NM_032273.4(TMEM126A):c.395+5G>A	TMEM126A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 215270	NM_032273.4(TMEM126A):c.280+14C>T	TMEM126A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 197361	NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln)	TMEM126A (R105Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 196566	NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser)	TMEM126A (R29S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 196565	NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly)	TMEM126A (S52G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 167733	NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val)	TMEM126A (L129V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137671	NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr)	TMEM126A (S188T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive optic atrophy, OPA7 type +2 more	GBenign/Likely benign
Select item 137670	NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)	TMEM126A (R64H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 137669	NM_032273.4(TMEM126A):c.96T>G (p.Leu32=)	TMEM126A	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive optic atrophy, OPA7 type +2 more	GConflicting classifications of pathogenicity
Select item 410	NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)	TMEM126A (R55*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic

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Items: 20