ClinVar for MedGen (Select 18180) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708372	NM_032730.5(RTN4IP1):c.1007T>A (p.Val336Asp)	RTN4IP1 (V236D +1 more)	Single nucleotide variant (missense variant)	Optic atrophy	GUncertain significance
Select item 1691850	NM_130837.3(OPA1):c.2051C>G (p.Ser684Ter)	OPA1 (S505* +9 more)	Single nucleotide variant (nonsense)	Optic atrophy	GLikely pathogenic
Select item 1684497	NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu)	ZNF236 (K232E +1 more)	Single nucleotide variant (missense variant)	Delayed speech and language development +3 more	GUncertain significance
Select item 1285534	NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter)	SNAP25 (K201*)	Single nucleotide variant (nonsense)	Global developmental delay +5 more	GConflicting classifications of pathogenicity
Select item 973112	NM_006796.3(AFG3L2):c.[1814A>G;2375dup]	AFG3L2, TUBB6 (Y605C)	Duplication (frameshift variant +2 more)	Optic atrophy	GPathogenic
Select item 973111	NM_006796.3(AFG3L2):c.[1901_1902del;916A>G]	AFG3L2 (K306E)	Microsatellite (nonsense +1 more)	Optic atrophy +2 more	GPathogenic
Select item 973110	NM_006796.3(AFG3L2):c.1130T>C (p.Phe377Ser)	AFG3L2 (F377S)	Single nucleotide variant (missense variant)	Optic atrophy	GPathogenic
Select item 973109	NM_006796.3(AFG3L2):c.1036C>T (p.Leu346Phe)	AFG3L2 (L346F)	Single nucleotide variant (missense variant)	Optic atrophy	GPathogenic
Select item 973108	NM_006796.3(AFG3L2):c.1289C>T (p.Thr430Ile)	AFG3L2 (T430I)	Single nucleotide variant (missense variant)	Reduced tendon reflexes +1 more	GPathogenic
Select item 973107	NM_006796.3(AFG3L2):c.[1385C>T;1858C>A]	AFG3L2 (A462V +1 more)	Single nucleotide variant (missense variant)	Spasticity +4 more	GPathogenic
Select item 973106	NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu)	AFG3L2 (P514L)	Single nucleotide variant (missense variant)	Optic atrophy 12 +2 more	GPathogenic
Select item 973105	NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly)	AFG3L2 (D407G)	Single nucleotide variant (missense variant)	Optic atrophy 12 +2 more	GPathogenic
Select item 973104	NM_006796.3(AFG3L2):c.1394G>A (p.Arg465Lys)	AFG3L2 (R465K)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GPathogenic
Select item 812922	NC_000002.11:g.15744252_17675820del	DDX1, CYRIA +2 more	Deletion	Peripheral edema +4 more	GLikely pathogenic
Select item 565275	NM_006796.3(AFG3L2):c.1402C>T (p.Arg468Cys)	AFG3L2 (R468C)	Single nucleotide variant (missense variant)	Optic atrophy 12	GPathogenic
Select item 546814	NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val)	AFG3L2 (A462V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 523305	NC_012920.1:m.11443A>C	MT-ND4	Single nucleotide variant	Visual impairment +4 more	GUncertain significance
Select item 523244	GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207)	ACP6, BCL9 +6 more	Copy number gain	Optic atrophy +4 more	GPathogenic
Select item 523243	GRCh37/hg19 9q31.3(chr9:111624558-111812725)	ABITRAM, ACTL7A +4 more	Copy number gain	Profound global developmental delay +4 more	GUncertain significance
Select item 449055	NM_016011.5(MECR):c.830+2dup	MECR	Duplication (splice donor variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +2 more	GPathogenic/Likely pathogenic
Select item 431941	NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter)	OPA1 (R733* +9 more)	Single nucleotide variant (nonsense)	Optic atrophy +1 more	GPathogenic
Select item 385335	NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met)	AFG3L2 (T355M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 374883	NM_016011.5(MECR):c.247_250del (p.Asn83fs)	MECR (N111fs +4 more)	Deletion (frameshift variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +1 more	GPathogenic
Select item 374882	NM_016011.4(MECR):c.772C>T (p.Arg258Trp)	MECR (R258W +4 more)	Single nucleotide variant (missense variant +1 more)	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities +1 more	GPathogenic
Select item 374881	NM_016011.5(MECR):c.854A>G (p.Tyr285Cys)	MECR (Y285C +4 more)	Single nucleotide variant (missense variant +1 more)	Childhood Onset Dystonias +2 more	GPathogenic/Likely pathogenic
Select item 374879	NM_016011.5(MECR):c.855T>G (p.Tyr285Ter)	MECR (Y285* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 374878	NM_016011.5(MECR):c.695G>A (p.Gly232Glu)	MECR (G232E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 374146	NM_000274.4(OAT):c.875A>G (p.Lys292Arg)	OAT (K292R +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency +4 more	GLikely pathogenic
Select item 370048	NC_012920.1:m.7373A>G	MT-CO1	Single nucleotide variant	Optic atrophy	GUncertain significance
Select item 221553	NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser)	PMPCA (G356S +2 more)	Single nucleotide variant (missense variant)	Global brain atrophy +12 more	GPathogenic
Select item 221552	NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr)	PMPCA (A377T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 2 +13 more	GPathogenic
Select item 183353	NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)	ISCA2 (G77S)	Single nucleotide variant (missense variant +1 more)	Fatal multiple mitochondrial dysfunctions syndrome +2 more	GPathogenic/Likely pathogenic
Select item 183339	NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter)	PIGQ (R207*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 167405	NM_130837.3(OPA1):c.1877G>A (p.Arg626His)	OPA1 (R626H +8 more)	Single nucleotide variant (missense variant)	OPA1-related condition +1 more	GUncertain significance

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Items: 34