C4748657[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5214	NM_018965.4(TREM2):c.558G>T (p.Lys186Asn)	TREM2 (K186N)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	GUncertain significance
Select item 5215	NM_018965.4(TREM2):c.401A>G (p.Asp134Gly)	TREM2 (D134G)	Single nucleotide variant (missense variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	GUncertain significance
Select item 5218	NM_018965.4(TREM2):c.377T>G (p.Val126Gly)	TREM2 (V126G)	Single nucleotide variant (missense variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 5213	NM_018965.4(TREM2):c.233G>A (p.Trp78Ter)	TREM2 (W78*)	Single nucleotide variant (nonsense)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	GLikely pathogenic
Select item 5217	NM_018965.4(TREM2):c.132G>A (p.Trp44Ter)	TREM2 (W44*)	Single nucleotide variant (nonsense)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	GLikely pathogenic
Select item 5219	NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)	TREM2 (Q33*)	Single nucleotide variant (nonsense)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +2 more	GPathogenic
Select item 56724	NM_018965.4(TREM2):c.40G>T (p.Glu14Ter)	TREM2 (E14*)	Single nucleotide variant (nonsense)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	GPathogenic