17761[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
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 3034609	NM_018965.4(TREM2):c.*169G>A	TREM2	Single nucleotide variant (3 prime UTR variant)	TREM2-related disorder	GLikely benign
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 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 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 1945329	NM_018965.4(TREM2):c.*123C>T	TREM2 (H208Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1575653	NM_018965.4(TREM2):c.*114C>T	TREM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 1482828	NM_018965.4(TREM2):c.*109C>G	TREM2 (T203S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1508060	NM_018965.4(TREM2):c.107_108delinsAG	TREM2 (T203A)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 718148	NM_018965.4(TREM2):c.*107G>T	TREM2 (E202D)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1954186	NM_018965.4(TREM2):c.*105G>C	TREM2 (E202Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1959798	NM_018965.4(TREM2):c.*102C>G	TREM2 (Q201E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2135653	NM_018965.4(TREM2):c.*101G>C	TREM2 (W200C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1534302	NM_018965.4(TREM2):c.*80A>T	TREM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1919056	NM_018965.4(TREM2):c.*70C>T	TREM2 (T190I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1966298	NM_018965.4(TREM2):c.*61T>C	TREM2 (I187T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108683	NM_018965.4(TREM2):c.*53A>T	TREM2	Single nucleotide variant (synonymous variant +1 more)	not provided	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 1993730	NM_018965.4(TREM2):c.*45A>G	TREM2 (T182A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1412934	NM_018965.4(TREM2):c.*45A>T	TREM2 (T182S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1439874	NM_018965.4(TREM2):c.*43G>C	TREM2 (G181A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2131026	NM_018965.4(TREM2):c.*26A>G	TREM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3061615	NM_018965.4(TREM2):c.*2G>A	TREM2	Single nucleotide variant (synonymous variant +1 more)	TREM2-related disorder	GLikely benign
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 1409635	NM_018965.4(TREM2):c.689C>T (p.Thr230Met)	TREM2 (T230M)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 499713	NM_018965.4(TREM2):c.677-6T>C	TREM2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1447460	NM_018965.4(TREM2):c.677-10A>G	TREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701502	NM_018965.4(TREM2):c.675A>G (p.Pro225=)	TREM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1012774	NM_018965.4(TREM2):c.674C>T (p.Pro225Leu)	TREM2 (P225L)	Single nucleotide variant (missense variant +1 more)	not provided	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 1504655	NM_018965.4(TREM2):c.645T>G (p.His215Gln)	TREM2 (H215Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1389159	NM_018965.4(TREM2):c.635A>G (p.Asp212Gly)	TREM2 (D212G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1389558	NM_018965.4(TREM2):c.622C>G (p.Pro208Ala)	TREM2 (P208A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1380082	NM_018965.4(TREM2):c.611G>A (p.Gly204Glu)	TREM2 (G204E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1178350	NM_018965.4(TREM2):c.594G>A (p.Trp198Ter)	TREM2 (W198*)	Single nucleotide variant (nonsense +1 more)	Frontotemporal dementia	GPathogenic
Select item 1353455	NM_018965.4(TREM2):c.578T>C (p.Leu193Pro)	TREM2 (L193P)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 1982815	NM_018965.4(TREM2):c.538G>C (p.Ala180Pro)	TREM2 (A180P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975372	NM_018965.4(TREM2):c.534C>A (p.Leu178=)	TREM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 522336	NM_018965.4(TREM2):c.514C>T (p.Pro172Ser)	TREM2 (P172S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2020997	NM_018965.4(TREM2):c.513A>C (p.Pro171=)	TREM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1387771	NM_018965.4(TREM2):c.510C>G (p.Phe170Leu)	TREM2 (F170L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1879660	NM_018965.4(TREM2):c.507C>T (p.Pro169=)	TREM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1498893	NM_018965.4(TREM2):c.483-1G>A	TREM2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1473898	NM_018965.4(TREM2):c.483-2A>C	TREM2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
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 1969696	NM_018965.4(TREM2):c.482+16T>C	TREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2178794	NM_018965.4(TREM2):c.482+8G>A	TREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1912125	NM_018965.4(TREM2):c.471C>T (p.His157=)	TREM2	Single nucleotide variant (synonymous 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 1995957	NM_018965.4(TREM2):c.463G>A (p.Val155Met)	TREM2 (V155M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991458	NM_018965.4(TREM2):c.462T>C (p.His154=)	TREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1570242	NM_018965.4(TREM2):c.450C>T (p.Phe150=)	TREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973298	NM_018965.4(TREM2):c.434G>C (p.Gly145Ala)	TREM2 (G145A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2288192	NM_018965.4(TREM2):c.433G>A (p.Gly145Arg)	TREM2 (G145R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1430279	NM_018965.4(TREM2):c.433G>T (p.Gly145Trp)	TREM2 (G145W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054123	NM_018965.4(TREM2):c.432C>T (p.Pro144=)	TREM2	Single nucleotide variant (synonymous variant)	TREM2-related disorder	GLikely benign
Select item 1928303	NM_018965.4(TREM2):c.432C>G (p.Pro144=)	TREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 593263	NM_018965.4(TREM2):c.431C>G (p.Pro144Arg)	TREM2 (P144R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666503	NM_018965.4(TREM2):c.429C>T (p.Phe143=)	TREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961094	NM_018965.4(TREM2):c.424T>C (p.Trp142Arg)	TREM2 (W142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050499	NM_018965.4(TREM2):c.417A>C (p.Gly139=)	TREM2	Single nucleotide variant (synonymous variant)	TREM2-related disorder	GLikely benign
Select item 2995806	NM_018965.4(TREM2):c.408G>T (p.Arg136=)	TREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 498494	NM_018965.4(TREM2):c.407G>A (p.Arg136Gln)	TREM2 (R136Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1511527	NM_018965.4(TREM2):c.406C>T (p.Arg136Trp)	TREM2 (R136W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 724458	NM_018965.4(TREM2):c.396C>G (p.Pro132=)	TREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2715444	NM_018965.4(TREM2):c.392-2A>T	TREM2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1536190	NM_018965.4(TREM2):c.392-15C>G	TREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636146	NM_018965.4(TREM2):c.391+20C>T	TREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603446	NM_018965.4(TREM2):c.391+14G>A	TREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1965316	NM_018965.4(TREM2):c.369G>A (p.Lys123=)	TREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012919	NM_018965.4(TREM2):c.368del (p.Lys123fs)	TREM2 (K123fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1398320	NM_018965.4(TREM2):c.365G>A (p.Arg122Lys)	TREM2 (R122K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514569	NM_018965.4(TREM2):c.353C>A (p.Ala118Asp)	TREM2 (A118D)	Single nucleotide variant (missense variant)	not provided	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 1398978	NM_018965.4(TREM2):c.323A>G (p.Tyr108Cys)	TREM2 (Y108C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497089	NM_018965.4(TREM2):c.315G>A (p.Ala105=)	TREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 287526	NM_018965.4(TREM2):c.314C>T (p.Ala105Val)	TREM2 (A105V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 56722	NM_018965.4(TREM2):c.313del (p.Ala105fs)	TREM2 (A105fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2323909	NM_018965.4(TREM2):c.304C>A (p.Pro102Thr)	TREM2 (P102T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1664818	NM_018965.4(TREM2):c.292C>A (p.Arg98=)	TREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 3012356	NM_018965.4(TREM2):c.291G>A (p.Leu97=)	TREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444592	NM_018965.4(TREM2):c.290T>C (p.Leu97Pro)	TREM2 (L97P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957437	NM_018965.4(TREM2):c.288G>T (p.Thr96=)	TREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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