ClinVar for OMIM (Select 104760) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989440	NM_007126.5(VCP):c.1184A>G (p.Asp395Gly)	VCP (D395G +1 more)	Single nucleotide variant (missense variant)	FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES	GPathogenic
Select item 180691	NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter)	COL25A1 (G497* +1 more)	Single nucleotide variant (nonsense)	Fibrosis of extraocular muscles, congenital, 5	GPathogenic
Select item 120224	NM_012268.4(PLD3):c.694G>A (p.Val232Met)	PLD3 (V232M)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 98117	NM_000021.4(PSEN1):c.1318_1320del (p.Thr440del)	PSEN1 (T440del +1 more)	Deletion (inframe_deletion)	Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques	GPathogenic
Select item 13426	NM_000371.4(TTR):c.424G>A (p.Val142Ile)	TTR (V142I)	Single nucleotide variant (missense variant)	TTR-related disorder +11 more	GPathogenic/Likely pathogenic
Select item 13401	NM_000311.5(PRNP):c.593T>C (p.Phe198Ser)	PRNP (F198S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic

ClinVar