ClinVar for MedGen (Select 1798947) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064884	NM_152906.7(TANGO2):c.220A>C (p.Thr74Pro)	TANGO2 (H14P +2 more)	Single nucleotide variant (missense variant +1 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GUncertain significance
Select item 2500728	NC_000022.11:g.20041466_20075200del	TANGO2	Deletion	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GPathogenic
Select item 2444033	NM_152906.7(TANGO2):c.287T>G (p.Leu96Arg)	TANGO2 (L137R +2 more)	Single nucleotide variant (missense variant +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GUncertain significance
Select item 2436951	NM_152906.7(TANGO2):c.443T>G (p.Leu148Trp)	TANGO2 (L114W +3 more)	Single nucleotide variant (missense variant +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GUncertain significance
Select item 1710052	NM_152906.7(TANGO2):c.280del (p.His94fs)	TANGO2 (H135fs +2 more)	Deletion (frameshift variant +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1709923	NM_152906.7(TANGO2):c.359A>G (p.Asn120Ser)	TANGO2 (N120S +2 more)	Single nucleotide variant (missense variant +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GUncertain significance
Select item 1696470	NM_152906.7(TANGO2):c.430G>A (p.Asp144Asn)	TANGO2 (D110N +3 more)	Single nucleotide variant (missense variant +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GUncertain significance
Select item 1364080	NM_152906.7(TANGO2):c.719C>G (p.Thr240Ser)	TANGO2 (H177Q +15 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1339009	NM_152906.7(TANGO2):c.263G>A (p.Arg88Gln)	TANGO2 (R129Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +1 more	GUncertain significance
Select item 1312508	NM_152906.7(TANGO2):c.262C>T (p.Arg88Ter)	TANGO2 (A28V +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 1312505	NM_152906.7(TANGO2):c.12CTT[1] (p.Phe6del)	TANGO2 (F6del)	Microsatellite (inframe_deletion +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GUncertain significance
Select item 1312498	NM_152906.7(TANGO2):c.265G>T (p.Gly89Cys)	TANGO2 (G130C +3 more)	Single nucleotide variant (missense variant +1 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GUncertain significance
Select item 1312497	NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg)	TANGO2 (L20R +1 more)	Single nucleotide variant (missense variant +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GUncertain significance
Select item 1301615	NM_152906.7(TANGO2):c.703G>A (p.Gly235Ser)	TANGO2 (G137S +10 more)	Single nucleotide variant (missense variant +3 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +1 more	GUncertain significance
Select item 1208775	NM_152906.7(TANGO2):c.56+219C>G	TANGO2 (S53*)	Single nucleotide variant (nonsense +3 more)	not provided +2 more	GBenign/Likely benign
Select item 1027803	NM_152906.7(TANGO2):c.57-3C>T	TANGO2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 984648	NM_152906.7(TANGO2):c.569_592del (p.Ile190_Leu197del)	TANGO2	Deletion (inframe_deletion +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GLikely pathogenic
Select item 984373	NC_000022.11:g.20041469_20075432del	TANGO2	Deletion	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GPathogenic
Select item 984372	NC_000022.11:g.20039637_20075714del	TANGO2	Deletion	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GPathogenic
Select item 915959	GRCh37/hg19 22q11.21(chr22:20036384-20045784)	TANGO2	Copy number loss	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GPathogenic
Select item 915958	GRCh37/hg19 22q11.21(chr22:20029135-20062954)	TANGO2	Copy number loss	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GPathogenic
Select item 813936	NM_152906.7(TANGO2):c.380+1G>A	TANGO2	Single nucleotide variant (splice donor variant +1 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GLikely pathogenic
Select item 803644	NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln)	TANGO2 (R73Q +1 more)	Single nucleotide variant (missense variant +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	GUncertain significance
Select item 673860	NM_152906.7(TANGO2):c.56+148C>T	TANGO2	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 644642	NM_001003800.2(BICD2):c.2383C>T (p.Arg795Trp)	BICD2 (R795W)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more	GUncertain significance
Select item 617515	NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter)	TANGO2 (R86* +2 more)	Single nucleotide variant (nonsense +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +1 more	GPathogenic/Likely pathogenic
Select item 432207	NM_152906.7(TANGO2):c.711-3C>G	TANGO2	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 378700	NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)	TANGO2 (R32* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 224774	NM_152906.7(TANGO2):c.418C>T (p.Arg140Ter)	TANGO2 (R140* +3 more)	Single nucleotide variant (nonsense +2 more)	Metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration +1 more	GPathogenic
Select item 224773	NM_152906.7(TANGO2):c.4del (p.Cys2fs)	TANGO2 (C2fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 224772	NM_152906.7(TANGO2):c.146-3605_451+2245del	TANGO2	Deletion (splice acceptor variant +2 more)	Cardiac arrhythmia +4 more	GPathogenic
Select item 224770	NM_152906.5(TANGO2):c.57-1743_*10769del	TANGO2	Deletion	Acute rhabdomyolysis +5 more	GPathogenic
Select item 208824	NM_152906.7(TANGO2):c.605+1G>A	TANGO2	Single nucleotide variant (non-coding transcript variant +2 more)	Seizure +7 more	GPathogenic/Likely pathogenic
Select item 208823	NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)	TANGO2 (G154R +5 more)	Single nucleotide variant (missense variant +2 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +6 more	GPathogenic/Likely pathogenic

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Items: 34