C0234985[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373903	NM_015046.7(SETX):c.2607_2609del (p.Lys870del)	SETX (K870del)	Deletion (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 374134	NM_000021.4(PSEN1):c.314T>G (p.Phe105Cys)	PSEN1 (F105C +1 more)	Single nucleotide variant (missense variant)	Mental deterioration +1 more	GPathogenic
Select item 98080	NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu)	PSEN1 (P264L +1 more)	Single nucleotide variant (missense variant)	Mental deterioration +6 more	GPathogenic/Likely pathogenic
Select item 98222	NM_001377265.1(MAPT):c.2091+16C>T	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia +5 more	GPathogenic
Select item 31158	NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)	C19orf12 (K142E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 31157	NM_031448.6(C19orf12):c.172G>A (p.Gly58Arg)	C19orf12 (G69R +1 more)	Single nucleotide variant (missense variant +1 more)	Mental deterioration +8 more	GPathogenic/Likely pathogenic

ClinVar