C0338451[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801435	NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro)	TARDBP (S377P)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GLikely pathogenic
Select item 257502	NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp)	MAPT (R370W +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +2 more	GBenign
Select item 460294	NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe)	MAPT (S427F +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +1 more	GBenign/Likely benign
Select item 98203	NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro)	MAPT (S447P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 803430	NM_001377265.1(MAPT):c.1834A>C (p.Thr612Pro)	MAPT (T162P +6 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GUncertain significance
Select item 14266	NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val)	MAPT (L266V +6 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GPathogenic
Select item 14257	NM_001377265.1(MAPT):c.2064T>C (p.Asn688=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GPathogenic
Select item 98217	NM_001377265.1(MAPT):c.2091T>C (p.Ser697=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia	GPathogenic/Likely pathogenic

ClinVar