ClinVar for MedGen (Select 1786662) - ClinVar - NCBI

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

Links from MedGen

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065695	NM_138376.3(TTC5):c.343A>C (p.Lys115Gln)	TTC5 (K115Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GUncertain significance
Select item 3062315	NM_138376.3(TTC5):c.79C>T (p.Arg27Ter)	TTC5 (R27*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GLikely pathogenic
Select item 2502828	NM_138376.3(TTC5):c.418C>T (p.Gln140Ter)	TTC5 (Q140*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GUncertain significance
Select item 2443352	NM_138376.3(TTC5):c.1225C>T (p.Arg409Ter)	TTC5 (R409*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GLikely pathogenic
Select item 1878583	NM_138376.3(TTC5):c.139_140inv (p.Gln47Trp)	TTC5 (Q47W)	Inversion (missense variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GUncertain significance
Select item 1048624	NM_138376.3(TTC5):c.692C>T (p.Ala231Val)	TTC5 (A231V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 1048623	NM_138376.3(TTC5):c.787C>T (p.Arg263Ter)	LOC126861878, TTC5 (R263*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 1048622	NM_138376.3(TTC5):c.1183C>T (p.Arg395Ter)	TTC5 (R395*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GUncertain significance
Select item 1048621	NM_138376.3(TTC5):c.629A>G (p.Tyr210Cys)	TTC5 (Y210C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 1048620	NM_138376.3(TTC5):c.51+1G>A	TTC5, LOC130055244	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic
Select item 1048619	NM_138376.3(TTC5):c.599del (p.Pro200fs)	TTC5 (P200fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism	GPathogenic