6740[HGNC] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 1701726	Single allele	FRS2, LOC130008282 +14 more	Duplication	not provided	GUncertain significance
Select item 310329	NM_000239.3(LYZ):c.-1C>T	LYZ	Single nucleotide variant (5 prime UTR variant)	Familial visceral amyloidosis, Ostertag type +1 more	GBenign
Select item 882898	NM_000239.3(LYZ):c.10C>G (p.Leu4Val)	LYZ (L4V)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GBenign
Select item 2319596	NM_000239.3(LYZ):c.40G>T (p.Val14Phe)	LYZ (V14F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 631690	NM_000239.3(LYZ):c.86del (p.Thr29fs)	LYZ (T29fs)	Deletion (frameshift variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 1609912	NM_000239.3(LYZ):c.90G>C (p.Leu30=)	LYZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557798	NM_000239.3(LYZ):c.95G>A (p.Arg32Lys)	LYZ (R32K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2056166	NM_000239.3(LYZ):c.136+9A>G	LYZ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 882899	NM_000239.3(LYZ):c.151A>T (p.Lys51Ter)	LYZ (K51*)	Single nucleotide variant (nonsense)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 310330	NM_000239.3(LYZ):c.156G>A (p.Trp52Ter)	LYZ (W52*)	Single nucleotide variant (nonsense)	Familial visceral amyloidosis, Ostertag type +2 more	GConflicting classifications of pathogenicity
Select item 1338132	NM_000239.3(LYZ):c.175C>T (p.Arg59Ter)	LYZ (R59*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 2862723	NM_000239.3(LYZ):c.188A>G (p.Tyr63Cys)	LYZ (Y63C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14375	NM_000239.3(LYZ):c.199G>C (p.Asp67His)	LYZ (D67H)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GPathogenic
Select item 1337976	NM_000239.3(LYZ):c.209C>G (p.Thr70Ser)	LYZ (T70S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 14374	NM_000239.3(LYZ):c.221T>C (p.Ile74Thr)	LYZ (I74T)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GPathogenic
Select item 14377	NM_000239.3(LYZ):c.223T>A (p.Phe75Ile)	LYZ (F75I)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GPathogenic
Select item 2142972	NM_000239.3(LYZ):c.230T>C (p.Ile77Thr)	LYZ (I77T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14378	NM_000239.3(LYZ):c.244T>A (p.Trp82Arg)	LYZ	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14376	NM_000239.3(LYZ):c.244T>C (p.Trp82Arg)	LYZ	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 310331	NM_000239.3(LYZ):c.263C>A (p.Thr88Asn)	LYZ (T88N)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GBenign/Likely benign
Select item 310332	NM_000239.3(LYZ):c.269G>A (p.Gly90Glu)	LYZ (G90E)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 883694	NM_000239.3(LYZ):c.272C>G (p.Ala91Gly)	LYZ (A91G)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GLikely benign
Select item 2076769	NM_000239.3(LYZ):c.286C>A (p.His96Asn)	LYZ (H96N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2477422	NM_000239.3(LYZ):c.349G>A (p.Val117Ile)	LYZ (V117I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2872515	NM_000239.3(LYZ):c.382G>A (p.Val128Met)	LYZ (V128M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791068	NM_000239.3(LYZ):c.392G>C (p.Arg131Thr)	LYZ (R131T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095574	NM_000239.3(LYZ):c.412G>C (p.Asp138His)	LYZ (D138H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 310333	NM_000239.3(LYZ):c.415G>C (p.Val139Leu)	LYZ (V139L)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GBenign
Select item 2074121	NM_000239.3(LYZ):c.432A>G (p.Gln144=)	LYZ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722403	NM_000239.3(LYZ):c.434G>A (p.Gly145Asp)	LYZ (G145D)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 883695	NM_000239.3(LYZ):c.*122A>G	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310334	NM_000239.3(LYZ):c.*169G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type +1 more	GBenign
Select item 310335	NM_000239.3(LYZ):c.*178C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type +1 more	GBenign
Select item 310336	NM_000239.3(LYZ):c.*191A>G	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 310337	NM_000239.3(LYZ):c.*221C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310338	NM_000239.3(LYZ):c.*242C>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 881353	NM_000239.3(LYZ):c.*266G>C	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 881352	NM_000239.3(LYZ):c.*266G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 310340	NM_000239.3(LYZ):c.289_290insTTTTTTTTTTTTT	LYZ	Insertion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 310339	NM_000239.3(LYZ):c.280_289dup	LYZ	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 881354	NM_000239.3(LYZ):c.*300C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 881355	NM_000239.3(LYZ):c.*309G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310341	NM_000239.3(LYZ):c.*330C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310342	NM_000239.3(LYZ):c.*331G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 881798	NM_000239.3(LYZ):c.*404G>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 881799	NM_000239.3(LYZ):c.*413G>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 310343	NM_000239.3(LYZ):c.*415G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 310344	NM_000239.3(LYZ):c.*418C>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type +1 more	GBenign
Select item 881800	NM_000239.3(LYZ):c.*426C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310345	NM_000239.3(LYZ):c.*440T>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310346	NM_000239.3(LYZ):c.*442T>G	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310347	NM_000239.3(LYZ):c.*461G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 310348	NM_000239.3(LYZ):c.*470C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310349	NM_000239.3(LYZ):c.*521G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 882949	NM_000239.3(LYZ):c.*544C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 882950	NM_000239.3(LYZ):c.*565G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310350	NM_000239.3(LYZ):c.*565G>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 882951	NM_000239.3(LYZ):c.*608T>C	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310351	NM_000239.3(LYZ):c.*655G>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type +1 more	GBenign
Select item 310352	NM_000239.3(LYZ):c.*735del	LYZ	Deletion (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GLikely benign
Select item 883743	NM_000239.3(LYZ):c.*771A>G	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310353	NM_000239.3(LYZ):c.*814C>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310354	NM_000239.3(LYZ):c.*835C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 883744	NM_000239.3(LYZ):c.*866C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310355	NM_000239.3(LYZ):c.*890T>C	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type +1 more	GBenign
Select item 883745	NM_000239.3(LYZ):c.*891G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 980441	GRCh37/hg19 12q15(chr12:68572386-70833868)x1	BEST3, CCT2 +17 more	Copy number loss	not provided	GPathogenic
Select item 831543	NC_000012.12:g.(?_69348409)_(69353219_?)dup	LYZ	Duplication	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 78