"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356674	NM_018965.4(TREM2):c.*30G>A	TREM2 (E177K)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +2 more	GBenign
Select item 714394	NM_018965.4(TREM2):c.668C>T (p.Thr223Ile)	TREM2 (T223I)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +2 more	GBenign/Likely benign
Select item 356676	NM_018965.4(TREM2):c.632T>C (p.Leu211Pro)	TREM2 (L211P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 522336	NM_018965.4(TREM2):c.514C>T (p.Pro172Ser)	TREM2 (P172S)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +2 more	GConflicting classifications of pathogenicity
Select item 196494	NM_018965.4(TREM2):c.469C>T (p.His157Tyr)	TREM2 (H157Y)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 290058	NM_018965.4(TREM2):c.399G>T (p.Leu133=)	TREM2	Single nucleotide variant (synonymous variant)	TREM2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 356678	NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)	TREM2 (T96K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 261064	NM_018965.4(TREM2):c.259G>A (p.Asp87Asn)	TREM2 (D87N)	Single nucleotide variant (missense variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 445645	NM_018965.4(TREM2):c.185G>A (p.Arg62His)	TREM2 (R62H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 5219	NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)	TREM2 (Q33*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic