C0338451[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 98026	NM_000021.4(PSEN1):c.428T>C (p.Ile143Thr)	PSEN1 (I143T +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GPathogenic
Select item 2922173	NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)	PSEN1 (P432A +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GConflicting classifications of pathogenicity
Select item 37069	NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)	FUS (P431L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1676222	NM_001377265.1(MAPT):c.1351+5G>C	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia	GUncertain significance
Select item 98208	NM_001377265.1(MAPT):c.1891G>A (p.Ala631Thr)	MAPT (A556T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 98222	NM_001377265.1(MAPT):c.2091+16C>T	MAPT	Single nucleotide variant (intron variant)	Frontotemporal dementia +5 more	GPathogenic

ClinVar