C0393576[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 857353	NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter)	VPS13A (Q985*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2627468	NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)	VPS13A (K1038fs)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2671682	NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)	VPS13A	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 857694	NM_033305.3(VPS13A):c.5909_5910del (p.Glu1970fs)	VPS13A (E1931fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2585440	NM_033305.3(VPS13A):c.6379-1G>C	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 4683	NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)	VPS13A (S2097fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2627469	NM_033305.3(VPS13A):c.9067_9069delinsTGG (p.Gly3023Trp)	VPS13A (G2984W +1 more)	Indel (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 555158	NM_006019.4(TCIRG1):c.713+1G>T	TCIRG1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar