C0338451[trait identifier] AND "Guerreiro-Bras Laboratory, Van Andel I - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 648503	NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp)	DCTN1 (R409W +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GConflicting classifications of pathogenicity
Select item 1344516	NM_005235.3(ERBB4):c.3335G>A (p.Arg1112His)	ERBB4 (R1096H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344514	NM_018446.4(GLT8D1):c.393del (p.Lys131fs)	GLT8D1 (K131fs)	Deletion (frameshift variant)	Frontotemporal dementia	GLikely pathogenic
Select item 905893	NM_018965.4(TREM2):c.117C>G (p.Asp39Glu)	TREM2 (D39E)	Single nucleotide variant (missense variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +1 more	GUncertain significance
Select item 586548	NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)	SETX (T1558A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +2 more	GConflicting classifications of pathogenicity
Select item 1344518	NM_015046.7(SETX):c.1114A>C (p.Thr372Pro)	SETX (T372P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1344511	NM_015046.7(SETX):c.638C>T (p.Ser213Phe)	SETX (S213F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 1344510	NM_001008212.2(OPTN):c.236A>G (p.Gln79Arg)	LOC108903148, OPTN (Q79R)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GLikely pathogenic
Select item 1344517	NM_001097577.3(ANG):c.368G>C (p.Gly123Ala)	ANG, EGILA +1 more (G123A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1344513	NM_000750.5(CHRNB4):c.658G>A (p.Val220Met)	CHRNB4 (V220M)	Single nucleotide variant (missense variant +1 more)	Frontotemporal dementia	GLikely pathogenic
Select item 1344512	NM_000750.5(CHRNB4):c.178C>T (p.Leu60Phe)	CHRNB4 (L60F)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GLikely pathogenic
Select item 1344515	NM_001761.3(CCNF):c.373G>A (p.Glu125Lys)	CCNF (E125K)	Single nucleotide variant (5 prime UTR variant +1 more)	Frontotemporal dementia	Gno classifications from unflagged records
Select item 37069	NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)	FUS (P431L +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis +4 more	GConflicting classifications of pathogenicity
Select item 98320	NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met)	CHRNA4 (T545M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity