"GeneDx"[submitter] AND "TREM2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 235387	NM_018965.4(TREM2):c.*73G>A	TREM2 (W191*)	Single nucleotide variant (nonsense +1 more)	not provided +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)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +2 more	GBenign/Likely benign
Select item 1181443	NM_018965.4(TREM2):c.483-106G>A	TREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706662	NM_018965.4(TREM2):c.483-152C>T	TREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 196494	NM_018965.4(TREM2):c.469C>T (p.His157Tyr)	TREM2 (H157Y)	Single nucleotide variant (missense variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +2 more	GBenign/Likely benign
Select item 356678	NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)	TREM2 (T96K)	Single nucleotide variant (missense variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +2 more	GBenign/Likely benign
Select item 261064	NM_018965.4(TREM2):c.259G>A (p.Asp87Asn)	TREM2 (D87N)	Single nucleotide variant (missense variant)	not provided +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)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +2 more	GBenign/Likely benign
Select item 195350	NM_018965.4(TREM2):c.140G>A (p.Arg47His)	TREM2 (R47H)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 1391887	NM_018965.4(TREM2):c.83C>T (p.Ala28Val)	TREM2 (A28V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1225296	NM_018965.4(TREM2):c.41-43C>T	TREM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182120	NM_018965.4(TREM2):c.40+88T>C	TREM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216202	NC_000006.12:g.41163317T>G	TREM2	Single nucleotide variant	not provided	GLikely benign