ClinVar for MedGen (Select 1648386) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 892115	NM_003332.4(TYROBP):c.112G>A (p.Val38Met)	TYROBP (V27M +1 more)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 892114	NM_003332.4(TYROBP):c.140T>C (p.Val47Ala)	TYROBP (V47A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 892113	NM_003332.4(TYROBP):c.180C>G (p.Ala60=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892112	NM_003332.4(TYROBP):c.230-3C>T	TYROBP	Single nucleotide variant (intron variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 890876	NM_003332.4(TYROBP):c.*154T>C	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 737347	NM_003332.4(TYROBP):c.111G>A (p.Thr37=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 732760	NM_003332.4(TYROBP):c.46C>T (p.Leu16=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 356673	NM_018965.4(TREM2):c.*111A>G	TREM2 (T204A)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 328898	NM_003332.4(TYROBP):c.-50G>A	TYROBP	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 328897	NM_003332.4(TYROBP):c.-34C>T	TYROBP	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 328896	NM_003332.4(TYROBP):c.68G>A (p.Arg23His)	TYROBP (R23H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 328895	NM_003332.4(TYROBP):c.94+10G>C	TYROBP	Single nucleotide variant (intron variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +1 more	GBenign
Select item 328894	NM_003332.4(TYROBP):c.123C>G (p.Gly41=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 328893	NM_003332.4(TYROBP):c.*5G>A	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 328892	NM_003332.4(TYROBP):c.*25A>C	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 328891	NM_003332.4(TYROBP):c.*83C>T	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 328890	NM_003332.4(TYROBP):c.*85C>T	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 328889	NM_003332.4(TYROBP):c.*103T>A	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 328888	NM_003332.4(TYROBP):c.*140T>C	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +1 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 196360	NM_003332.4(TYROBP):c.163G>T (p.Val55Leu)	TYROBP (V55L +1 more)	Single nucleotide variant (missense variant +1 more)	TYROBP-related condition +3 more	GBenign
Select item 192243	NC_000019.10:g.35905884_35911125del	LOC130064271, LOC130064269 +2 more	Deletion	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	Gnot provided
Select item 192242	NM_018965.4(TREM2):c.197C>T (p.Thr66Met)	TREM2 (T66M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 192241	NM_018965.4(TREM2):c.113A>G (p.Tyr38Cys)	TREM2 (Y38C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 56723	NM_018965.4(TREM2):c.40+4_40+6del	TREM2	Deletion (intron variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GPathogenic/Likely pathogenic
Select item 56722	NM_018965.4(TREM2):c.313del (p.Ala105fs)	TREM2 (A105fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 56721	NM_018965.4(TREM2):c.269del (p.Gly90fs)	TREM2 (G90fs)	Deletion (frameshift variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GLikely pathogenic
Select item 56397	NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter)	TYROBP (E76* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 56396	NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg)	TYROBP (G38R +1 more)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GLikely pathogenic
Select item 56395	NM_003332.4(TYROBP):c.141del (p.Met48fs)	TYROBP (M37fs +1 more)	Deletion (frameshift variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GPathogenic/Likely pathogenic
Select item 56394	NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn)	TYROBP (S28N +1 more)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GLikely pathogenic
Select item 5797	NM_003332.4(TYROBP):c.2T>C (p.Met1Thr)	TYROBP (M1T)	Single nucleotide variant (missense variant +2 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GPathogenic
Select item 5795	NC_000019.10:g.35905861_35911126del	LOC130064269, LOC130064270 +2 more	Deletion	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	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 +1 more	GPathogenic
Select item 5218	NM_018965.4(TREM2):c.377T>G (p.Val126Gly)	TREM2 (V126G)	Single nucleotide variant (missense variant)	TREM2-related condition +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

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Items: 42