C0236642[trait identifier] AND "OMIM"[submitter] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 18157	NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)	PSEN1 (A79V +1 more)	Single nucleotide variant (missense variant)	Pick disease +4 more	GPathogenic
Select item 18145	NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)	PSEN1 (L113P +1 more)	Single nucleotide variant (missense variant)	Pick disease +4 more	GLikely pathogenic
Select item 18128	NM_000021.4(PSEN1):c.415A>G (p.Met139Val)	PSEN1 (M139V +1 more)	Single nucleotide variant (missense variant)	Acne inversa, familial, 3 +4 more	GPathogenic
Select item 18123	NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)	PSEN1 (M146L +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GPathogenic
Select item 18124	NM_000021.4(PSEN1):c.488A>G (p.His163Arg)	PSEN1 (H163R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 18149	NM_000021.4(PSEN1):c.548G>T (p.Gly183Val)	PSEN1 (G183V +1 more)	Single nucleotide variant (missense variant)	Pick disease	GPathogenic
Select item 18143	NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)	PSEN1 (G206A +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1U +5 more	GPathogenic
Select item 18159	NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)	PSEN1 (G217R +1 more)	Single nucleotide variant (missense variant)	Acne inversa, familial, 3 +3 more	GLikely pathogenic
Select item 18125	NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu)	PSEN1 (A246E +1 more)	Single nucleotide variant (missense variant)	Pick disease +4 more	GPathogenic
Select item 18148	NM_000021.4(PSEN1):c.811C>G (p.Leu271Val)	PSEN1 (L271V +1 more)	Single nucleotide variant (missense variant)	Pick disease +3 more	GPathogenic
Select item 18152	NM_000021.4(PSEN1):c.833G>T (p.Arg278Ile)	PSEN1 (R278I +1 more)	Single nucleotide variant (missense variant)	Acne inversa, familial, 3 +3 more	GPathogenic
Select item 18132	NM_000021.4(PSEN1):c.839A>G (p.Glu280Gly)	PSEN1 (E280G +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +4 more	GPathogenic
Select item 18131	NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)	PSEN1 (E280A +1 more)	Single nucleotide variant (missense variant)	Acne inversa, familial, 3 +3 more	GPathogenic
Select item 18156	NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly)	PSEN1 (D333G +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia +5 more	GConflicting classifications of pathogenicity
Select item 120170	NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)	PSEN1 (L381F +1 more)	Single nucleotide variant (missense variant)	Alzheimer disease 3 +3 more	GLikely pathogenic
Select item 18127	NM_000021.4(PSEN1):c.1229G>A (p.Cys410Tyr)	PSEN1 (C410Y +1 more)	Single nucleotide variant (missense variant)	Pick disease +3 more	GPathogenic
Select item 18136	NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)	PSEN1 (A426P +1 more)	Single nucleotide variant (missense variant)	Pick disease +5 more	GLikely pathogenic
Select item 18155	NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)	PSEN1 (A431E +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 14259	NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr)	MAPT (K257T +6 more)	Single nucleotide variant (missense variant +1 more)	Pick disease	GPathogenic
Select item 14253	NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)	MAPT (N279K +5 more)	Single nucleotide variant (intron variant +1 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
Select item 14262	NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)	MAPT (S320F +9 more)	Single nucleotide variant (missense variant +2 more)	Frontotemporal dementia	GPathogenic
Select item 14260	NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile)	MAPT (K369I +9 more)	Single nucleotide variant (missense variant +2 more)	Pick disease	GPathogenic
Select item 14255	NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)	MAPT (G389R +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 14247	NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)	MAPT (R406W +9 more)	Single nucleotide variant (missense variant +2 more)	Supranuclear palsy, progressive, 1 +5 more	GPathogenic

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Items: 25