ClinVar for MedGen (Select 1648374) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2583155	NM_018965.4(TREM2):c.40+1G>A	TREM2	Single nucleotide variant (splice donor variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	GPathogenic
Select item 2437259	NM_018965.4(TREM2):c.203A>T (p.Asn68Ile)	TREM2 (N68I)	Single nucleotide variant (missense variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	GUncertain significance
Select item 1517663	NM_018965.4(TREM2):c.451G>A (p.Glu151Lys)	TREM2 (E151K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1464436	NM_018965.4(TREM2):c.486C>G (p.Ser162Arg)	TREM2 (S162R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1394089	NM_018965.4(TREM2):c.346A>T (p.Ser116Cys)	TREM2 (S116C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 907356	NM_018965.4(TREM2):c.*48A>T	TREM2 (S183C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 907355	NM_018965.4(TREM2):c.*148C>T	TREM2 (A216V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 907354	NM_018965.4(TREM2):c.*156G>T	TREM2 (G219C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 906413	NM_018965.4(TREM2):c.-98C>T	TREM2	Single nucleotide variant	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	GUncertain significance
Select item 906351	NM_018965.4(TREM2):c.*157G>A	TREM2 (G219D)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +1 more	GUncertain significance
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 904022	NM_018965.4(TREM2):c.482+7C>T	TREM2	Single nucleotide variant (intron variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	GUncertain significance
Select item 904021	NM_018965.4(TREM2):c.574G>A (p.Ala192Thr)	TREM2 (A192T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 714394	NM_018965.4(TREM2):c.668C>T (p.Thr223Ile)	TREM2 (T223I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 502024	NM_018965.4(TREM2):c.292C>T (p.Arg98Trp)	TREM2 (R98W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 356682	NM_018965.4(TREM2):c.-51G>A	TREM2	Single nucleotide variant	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	GUncertain significance
Select item 356681	NM_018965.4(TREM2):c.40+13C>T	TREM2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356680	NM_018965.4(TREM2):c.115G>A (p.Asp39Asn)	TREM2 (D39N)	Single nucleotide variant (missense variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +1 more	GUncertain significance
Select item 356679	NM_018965.4(TREM2):c.254C>T (p.Thr85Ile)	TREM2 (T85I)	Single nucleotide variant (missense variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	GUncertain significance
Select item 356677	NM_018965.4(TREM2):c.393C>T (p.Asp131=)	TREM2	Single nucleotide variant (synonymous variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 356675	NM_018965.4(TREM2):c.690G>A (p.Thr230=)	TREM2 (V166M)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +1 more	GConflicting classifications of pathogenicity
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 +1 more	GBenign
Select item 290058	NM_018965.4(TREM2):c.399G>T (p.Leu133=)	TREM2	Single nucleotide variant (synonymous variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +2 more	GConflicting classifications of pathogenicity
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 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 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 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 192242	NM_018965.4(TREM2):c.197C>T (p.Thr66Met)	TREM2 (T66M)	Single nucleotide variant (missense variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 56725	NM_018965.4(TREM2):c.482+2T>C	TREM2	Single nucleotide variant (splice donor variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +1 more	GPathogenic/Likely pathogenic
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
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 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 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 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 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 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

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Items: 36