"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TANGO2"[ge - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1208775	NM_152906.7(TANGO2):c.56+219C>G	TANGO2 (S53*)	Single nucleotide variant (nonsense +3 more)	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +2 more	GBenign/Likely benign
Select item 450215	NM_152906.7(TANGO2):c.149T>C (p.Leu50Pro)	TANGO2 (L50P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 376931	NM_152906.7(TANGO2):c.419G>A (p.Arg140Gln)	TANGO2 (R140Q +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 2652878	NM_152906.7(TANGO2):c.549G>T (p.Ala183=)	TANGO2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1543207	NM_152906.7(TANGO2):c.738G>A (p.Ala246=)	TANGO2 (G184R +3 more)	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	FAM230A, GGT2 +46 more	Copy number loss	not provided	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	DGCR8, AIFM3 +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	MED15, MRPL40 +45 more	Copy number loss	not provided	GPathogenic
Select item 1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	RTN4R, SERPIND1 +45 more	Copy number gain	not provided	GPathogenic
Select item 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	FAM230A, GGTLC3 +45 more	Copy number loss	not provided	GPathogenic