C0497327[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 199044	NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)	GBA1, LOC106627981 (E365K +2 more)	Single nucleotide variant (missense variant)	not specified +13 more	GBenign/Likely benign; risk factor
Select item 127974	NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln)	MRE11 (R576Q)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 481777	NM_005591.4(MRE11):c.229G>A (p.Glu77Lys)	MRE11 (E77K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 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 374122	NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn)	TYROBP (D32N)	Single nucleotide variant (missense variant +1 more)	Parkinsonian disorder +9 more	GUncertain significance

ClinVar