ClinVar for MedGen (Select 1682670) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2647014	NM_001318525.2(TRAPPC2L):c.119A>G (p.Asp40Gly)	TRAPPC2L (D10G +2 more)	Single nucleotide variant (missense variant +3 more)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +2 more	GLikely benign
Select item 2628106	NM_001318525.2(TRAPPC2L):c.164A>T (p.Glu55Val)	TRAPPC2L (E25V +2 more)	Single nucleotide variant (missense variant +2 more)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	GLikely pathogenic
Select item 2442210	NM_001318525.2(TRAPPC2L):c.33G>A (p.Glu11=)	TRAPPC2L	Single nucleotide variant (synonymous variant +2 more)	TRAPPC2L-related disorder +1 more	GUncertain significance
Select item 2442007	NM_001318525.2(TRAPPC2L):c.33+2T>G	TRAPPC2L	Single nucleotide variant (splice donor variant)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	GLikely pathogenic
Select item 2431365	NM_001318525.2(TRAPPC2L):c.33+5G>A	TRAPPC2L	Single nucleotide variant (intron variant)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	GUncertain significance
Select item 1030538	NM_001318525.2(TRAPPC2L):c.350A>G (p.Asn117Ser)	TRAPPC2L (N86S +3 more)	Single nucleotide variant (missense variant +1 more)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +1 more	GUncertain significance
Select item 932239	NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly)	TRAPPC2L (A2G)	Single nucleotide variant (missense variant +2 more)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +1 more	GConflicting classifications of pathogenicity
Select item 803287	NM_013275.6(ANKRD11):c.3603dup (p.Phe1202fs)	ANKRD11, TRAPPC2L (F1202fs)	Duplication (frameshift variant)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	GPathogenic
Select item 803286	NM_013275.6(ANKRD11):c.4145dup (p.Gly1384fs)	TRAPPC2L, ANKRD11 (G1384fs)	Duplication (frameshift variant)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	GPathogenic
Select item 619097	NM_001318525.2(TRAPPC2L):c.109G>T (p.Asp37Tyr)	TRAPPC2L (D37Y +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	GPathogenic
Select item 588478	NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)	ANKRD11, TRAPPC2L (S1878P)	Single nucleotide variant (missense variant)	ANKRD11-related disorder +4 more	GBenign/Likely benign
Select item 585399	NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)	TRAPPC2L, ANKRD11 (D46N)	Single nucleotide variant (missense variant +1 more)	ANKRD11-related disorder +4 more	GBenign/Likely benign
Select item 217881	NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter)	ANKRD11, TRAPPC2L (Q2394*)	Single nucleotide variant (nonsense)	KBG syndrome +1 more	GLikely pathogenic