NIPSNAP3B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-Kruszka syndrome	GPathogenic
Select item 146243	GRCh38/hg38 9q31.1(chr9:103006145-105161449)x1	ABCA1, CT70 +41 more	Copy number loss	See cases	GUncertain significance
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 155197	GRCh38/hg38 9q31.1-31.2(chr9:104036284-105935181)x3	ABCA1, CT70 +58 more	Copy number gain	See cases	GUncertain significance
Select item 2598076	NM_018376.4(NIPSNAP3B):c.34C>T (p.Leu12Phe)	LOC130002268, NIPSNAP3B (L12F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595301	NM_018376.4(NIPSNAP3B):c.89G>C (p.Arg30Thr)	NIPSNAP3B (R30T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569211	NM_018376.4(NIPSNAP3B):c.97G>A (p.Asp33Asn)	NIPSNAP3B (D33N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3200201	NM_018376.4(NIPSNAP3B):c.152C>T (p.Ala51Val)	NIPSNAP3B (A51V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293963	NM_018376.4(NIPSNAP3B):c.230T>C (p.Phe77Ser)	NIPSNAP3B (F77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405891	NM_018376.4(NIPSNAP3B):c.258T>A (p.His86Gln)	NIPSNAP3B (H86Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492071	NM_018376.4(NIPSNAP3B):c.289G>C (p.Ala97Pro)	NIPSNAP3B (A97P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200202	NM_018376.4(NIPSNAP3B):c.290C>A (p.Ala97Asp)	NIPSNAP3B (A97D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591431	NM_018376.4(NIPSNAP3B):c.299G>A (p.Arg100Gln)	NIPSNAP3B (R100Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200203	NM_018376.4(NIPSNAP3B):c.343A>G (p.Ile115Val)	NIPSNAP3B (I115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209794	NM_018376.4(NIPSNAP3B):c.359G>A (p.Arg120His)	NIPSNAP3B (R120H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3200204	NM_018376.4(NIPSNAP3B):c.377C>T (p.Thr126Met)	NIPSNAP3B (T126M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494546	NM_018376.4(NIPSNAP3B):c.386C>T (p.Thr129Ile)	NIPSNAP3B (T129I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237318	NM_018376.4(NIPSNAP3B):c.392T>C (p.Leu131Pro)	NIPSNAP3B (L131P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479484	NM_018376.4(NIPSNAP3B):c.463C>G (p.Pro155Ala)	NIPSNAP3B (P155A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200205	NM_018376.4(NIPSNAP3B):c.544G>A (p.Gly182Ser)	NIPSNAP3B (G182S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394378	NM_018376.4(NIPSNAP3B):c.545G>C (p.Gly182Ala)	NIPSNAP3B (G182A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200206	NM_018376.4(NIPSNAP3B):c.587T>C (p.Val196Ala)	NIPSNAP3B (V196A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778962	NM_018376.4(NIPSNAP3B):c.675A>G (p.Glu225=)	NIPSNAP3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2540063	NM_018376.4(NIPSNAP3B):c.676A>G (p.Ser226Gly)	NIPSNAP3B (S226G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 364318	NM_005502.3(ABCA1):c.*3312A>C	ABCA1, NIPSNAP3B	Single nucleotide variant	Familial High Density Lipoprotein Deficiency +1 more	GUncertain significance
Select item 364319	NM_005502.4(ABCA1):c.*3279A>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 364320	NM_005502.4(ABCA1):c.*3254T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GBenign/Likely benign
Select item 364321	NM_005502.4(ABCA1):c.*3251T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GBenign/Likely benign
Select item 364322	NM_005502.4(ABCA1):c.*3220A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +2 more	GBenign
Select item 915227	NM_005502.4(ABCA1):c.*3208T>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 364323	NM_005502.4(ABCA1):c.3205_3207del	ABCA1, NIPSNAP3B	Deletion (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +1 more	GLikely benign
Select item 915228	NM_005502.4(ABCA1):c.*3187A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 364324	NM_005502.4(ABCA1):c.*3087C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 364325	NM_005502.4(ABCA1):c.*3083T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GBenign
Select item 364326	NM_005502.4(ABCA1):c.*3029A>G	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 912532	NM_005502.4(ABCA1):c.*2988C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 364327	NM_005502.4(ABCA1):c.*2907A>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1287228	NM_005502.4(ABCA1):c.2897_2899del	ABCA1, NIPSNAP3B	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 912533	NM_005502.4(ABCA1):c.*2893C>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 364328	NM_005502.4(ABCA1):c.*2746T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 913640	NM_005502.4(ABCA1):c.*2737T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 364329	NM_005502.4(ABCA1):c.*2705G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GBenign
Select item 364330	NM_005502.4(ABCA1):c.*2653C>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 914038	NM_005502.4(ABCA1):c.*2645G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 364331	NM_005502.4(ABCA1):c.*2611A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 914039	NM_005502.4(ABCA1):c.*2537G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 914040	NM_005502.4(ABCA1):c.*2516T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 914551	NM_005502.4(ABCA1):c.*2502T>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 364332	NM_005502.4(ABCA1):c.*2486T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GConflicting classifications of pathogenicity
Select item 364333	NM_005502.4(ABCA1):c.*2446A>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 364334	NM_005502.4(ABCA1):c.*2409T>C	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 912581	NM_005502.4(ABCA1):c.*2371A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 912582	NM_005502.4(ABCA1):c.*2330A>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +2 more	GUncertain significance
Select item 364335	NM_005502.4(ABCA1):c.*2311A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 364336	NM_005502.4(ABCA1):c.*2220T>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913682	NM_005502.4(ABCA1):c.*2129A>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GBenign/Likely benign
Select item 364337	NM_005502.4(ABCA1):c.*2089G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GConflicting classifications of pathogenicity
Select item 913683	NM_005502.4(ABCA1):c.*2002A>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 913684	NM_005502.4(ABCA1):c.*1970G>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 364338	NM_005502.4(ABCA1):c.*1923A>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GBenign/Likely benign
Select item 364339	NM_005502.4(ABCA1):c.*1911C>T	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GBenign
Select item 364340	NM_005502.4(ABCA1):c.*1900T>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 364341	NM_005502.4(ABCA1):c.*1896G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 914593	NM_005502.4(ABCA1):c.*1876A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 914594	NM_005502.4(ABCA1):c.*1803G>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GBenign/Likely benign
Select item 912627	NM_005502.4(ABCA1):c.*1790C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 912628	NM_005502.4(ABCA1):c.*1773A>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 364342	NM_005502.4(ABCA1):c.*1768T>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 364343	NM_005502.4(ABCA1):c.*1767G>T	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 364344	NM_005502.4(ABCA1):c.*1657C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 364345	NM_005502.4(ABCA1):c.*1653T>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GBenign
Select item 364346	NM_005502.4(ABCA1):c.*1586A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GBenign/Likely benign
Select item 364347	NM_005502.4(ABCA1):c.*1574T>C	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 364348	NM_005502.4(ABCA1):c.*1476A>G	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1228065	NM_005502.4(ABCA1):c.*1466dup	ABCA1, NIPSNAP3B	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 364349	NM_005502.4(ABCA1):c.*1467A>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 364350	NM_005502.4(ABCA1):c.*1466del	NIPSNAP3B, ABCA1	Deletion (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +2 more	GBenign
Select item 364351	NM_005502.4(ABCA1):c.*1440C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +2 more	GBenign
Select item 364352	NM_005502.4(ABCA1):c.*1373dup	ABCA1, NIPSNAP3B	Duplication (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +1 more	GLikely benign
Select item 364353	NM_005502.4(ABCA1):c.*1327G>A	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +1 more	GLikely benign
Select item 364354	NM_005502.4(ABCA1):c.*1326C>T	NIPSNAP3B, ABCA1	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GUncertain significance
Select item 914127	NM_005502.4(ABCA1):c.*1322C>T	ABCA1, NIPSNAP3B	Single nucleotide variant (3 prime UTR variant)	Tangier disease +1 more	GBenign/Likely benign
Select item 364355	NM_005502.4(ABCA1):c.*1291del	ABCA1, NIPSNAP3B	Deletion (3 prime UTR variant)	Familial High Density Lipoprotein Deficiency +1 more	GLikely benign

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