ClinVar for MedGen (Select 1717952) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580934	NM_016146.6(TRAPPC4):c.374T>C (p.Leu125Pro)	TRAPPC4 (L125P +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GLikely pathogenic
Select item 2437255	NM_016146.6(TRAPPC4):c.64T>C (p.Tyr22His)	TRAPPC4 (Y22H)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GUncertain significance
Select item 2437254	NM_016146.6(TRAPPC4):c.260G>A (p.Gly87Asp)	TRAPPC4 (G87D +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GUncertain significance
Select item 1342354	NM_016146.6(TRAPPC4):c.176-3C>T	TRAPPC4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GUncertain significance
Select item 1172587	NM_016146.6(TRAPPC4):c.278C>T (p.Pro93Leu)	TRAPPC4 (P93L +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GUncertain significance
Select item 996553	NM_016146.6(TRAPPC4):c.191T>C (p.Leu64Pro)	TRAPPC4 (L64P)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GUncertain significance
Select item 916549	NM_016146.6(TRAPPC4):c.638_*4del (p.Gly213_Ter220delinsXaa)	TRAPPC4	Deletion (stop lost)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy	GLikely pathogenic
Select item 812649	NM_016146.6(TRAPPC4):c.454+3A>G	TRAPPC4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy +2 more	GPathogenic/Likely pathogenic