ClinVar for MedGen (Select 1640811) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075676	NM_001377265.1(MAPT):c.2077C>G (p.Pro693Ala)	MAPT (P243A +5 more)	Single nucleotide variant (missense variant +1 more)	Supranuclear palsy, progressive, 1	GLikely pathogenic
Select item 1417517	NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)	MAPT (R546C +6 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia +4 more	GUncertain significance
Select item 1345546	NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)	MAPT (P4T)	Single nucleotide variant (missense variant +1 more)	Supranuclear palsy, progressive, 1 +4 more	GUncertain significance
Select item 1271108	NM_001377265.1(MAPT):c.2074G>A (p.Val692Ile)	MAPT (V242I +5 more)	Single nucleotide variant (intron variant +1 more)	Frontotemporal dementia +5 more	GBenign/Likely benign
Select item 1126880	NM_001377265.1(MAPT):c.1881G>A (p.Ser627=)	MAPT	Single nucleotide variant (synonymous variant +1 more)	Frontotemporal dementia +4 more	GLikely benign
Select item 956359	NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile)	MAPT (T30I)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +4 more	GUncertain significance
Select item 638372	NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)	MAPT (R222S +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +4 more	GConflicting classifications of pathogenicity
Select item 452810	NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)	MAPT (S273P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 257504	NM_001377265.1(MAPT):c.220+2535A>G	MAPT	Single nucleotide variant (intron variant)	Parkinson disease, late-onset +7 more	GBenign
Select item 98197	NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg)	MAPT (Q230R +1 more)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia +6 more	GBenign/Likely benign
Select item 14269	NM_001377265.1(MAPT):c.2084G>T (p.Gly695Val)	MAPT (G303V +5 more)	Single nucleotide variant (missense variant +1 more)	Supranuclear palsy, progressive, 1	GPathogenic
Select item 14267	NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu)	MAPT (S352L +9 more)	Single nucleotide variant (missense variant +2 more)	Supranuclear palsy, progressive, 1	GPathogenic
Select item 14263	NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu)	MAPT (R5L)	Single nucleotide variant (missense variant +1 more)	Supranuclear palsy, progressive, 1	GPathogenic
Select item 14247	NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)	MAPT (R406W +9 more)	Single nucleotide variant (missense variant +2 more)	Pick disease +5 more	GPathogenic
Select item 14245	NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)	MAPT (P301L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic