C4721893[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 290058	NM_018965.4(TREM2):c.399G>T (p.Leu133=)	TREM2	Single nucleotide variant (synonymous variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 23