ClinVar for Gene (Select 23742) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063376	GRCh37/hg19 15q11.2-12(chr15:24740574-25955228)x1	ATP10A, IPW +12 more	Copy number loss	not specified	GPathogenic
Select item 3063363	GRCh37/hg19 15q11.2-12(chr15:23620191-25972663)x1	ATP10A, GOLGA6L2 +17 more	Copy number loss	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062005	GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4	PWRN3, PWRN4 +170 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062004	GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699)	APBA2, ATP10A +189 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3025429	NM_018958.3(NPAP1):c.1729A>G (p.Asn577Asp)	NPAP1 (N577D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685503	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28915864)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684750	GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3	ATP10A, CYFIP1 +27 more	Copy number gain	not provided	GPathogenic
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2672580	NM_018958.3(NPAP1):c.278C>T (p.Ala93Val)	NPAP1 (A93V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2671594	Single allele	APBA2, ARHGAP11B +42 more	Duplication	not provided	GPathogenic
Select item 2663786	NC_000015.10:g.(?_23319714)_(28314256_?)del	GABRA5, PWRN4 +143 more	Deletion	Angelman syndrome	GPathogenic
Select item 2645010	NM_018958.3(NPAP1):c.3462A>G (p.Gln1154=)	NPAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645009	NM_018958.3(NPAP1):c.3302G>A (p.Gly1101Asp)	NPAP1 (G1101D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2645008	NM_018958.3(NPAP1):c.3028G>A (p.Gly1010Arg)	NPAP1 (G1010R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645007	NM_018958.3(NPAP1):c.2409C>T (p.Thr803=)	NPAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645006	NM_018958.3(NPAP1):c.726A>G (p.Thr242=)	NPAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622219	NM_018958.3(NPAP1):c.422T>A (p.Ile141Asn)	NPAP1 (I141N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618398	NM_018958.3(NPAP1):c.330C>A (p.His110Gln)	NPAP1 (H110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618209	NM_018958.3(NPAP1):c.1378A>G (p.Asn460Asp)	NPAP1 (N460D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607308	NM_018958.3(NPAP1):c.968A>G (p.Asn323Ser)	NPAP1 (N323S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607239	NM_018958.3(NPAP1):c.1241C>A (p.Thr414Asn)	NPAP1 (T414N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602142	NM_018958.3(NPAP1):c.1635C>A (p.Ser545Arg)	NPAP1 (S545R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598885	NM_018958.3(NPAP1):c.2927C>T (p.Thr976Ile)	NPAP1 (T976I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597964	NM_018958.3(NPAP1):c.821A>G (p.Gln274Arg)	NPAP1 (Q274R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595518	NM_018958.3(NPAP1):c.2231G>T (p.Gly744Val)	NPAP1 (G744V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588427	NM_018958.3(NPAP1):c.2813G>A (p.Gly938Asp)	NPAP1 (G938D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579285	GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1	ATP10A, ATP10A-DT +163 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 2578750	GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 2578749	GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4	ATP10A, CYFIP1 +27 more	Copy number gain	not provided	GPathogenic
Select item 2574688	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)	APBA2, ATP10A +32 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 2562580	NM_018958.3(NPAP1):c.2488C>G (p.Pro830Ala)	NPAP1 (P830A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553611	NM_018958.3(NPAP1):c.244C>G (p.Leu82Val)	NPAP1 (L82V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541930	NM_018958.3(NPAP1):c.1472C>T (p.Ala491Val)	NPAP1 (A491V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536855	NM_018958.3(NPAP1):c.131C>G (p.Pro44Arg)	NPAP1 (P44R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526546	NM_018958.3(NPAP1):c.1364C>T (p.Ala455Val)	NPAP1 (A455V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518130	NM_018958.3(NPAP1):c.2797G>C (p.Val933Leu)	NPAP1 (V933L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518106	NM_018958.3(NPAP1):c.205A>C (p.Lys69Gln)	NPAP1 (K69Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516426	NM_018958.3(NPAP1):c.1769C>G (p.Thr590Arg)	NPAP1 (T590R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506559	GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579)	PWAR4, PWAR5 +22 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 2498629	GRCh37/hg19 15q11.2-13.1(chr15:23406271-28566579)x1	PWAR4, HERC2 +22 more	Copy number loss	not provided	GPathogenic
Select item 2498601	NM_018958.3(NPAP1):c.2142C>T (p.Ala714=)	NPAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2484427	NM_018958.3(NPAP1):c.2486C>T (p.Pro829Leu)	NPAP1 (P829L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480781	NM_018958.3(NPAP1):c.1234C>T (p.Pro412Ser)	NPAP1 (P412S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474598	NM_018958.3(NPAP1):c.1250C>T (p.Thr417Ile)	NPAP1 (T417I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472124	NM_018958.3(NPAP1):c.3392G>A (p.Arg1131Lys)	NPAP1 (R1131K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2466718	NM_018958.3(NPAP1):c.109C>T (p.Arg37Trp)	NPAP1 (R37W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458964	NM_018958.3(NPAP1):c.943G>T (p.Ala315Ser)	NPAP1 (A315S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456094	NM_018958.3(NPAP1):c.716T>C (p.Met239Thr)	NPAP1 (M239T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2445212	Single allele	CYFIP1, GOLGA6L2 +11 more	Duplication	See cases	GLikely pathogenic
Select item 2407540	NM_018958.3(NPAP1):c.2114C>T (p.Pro705Leu)	NPAP1 (P705L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404358	NM_018958.3(NPAP1):c.2960G>A (p.Gly987Glu)	NPAP1 (G987E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402056	NM_018958.3(NPAP1):c.2975G>C (p.Gly992Ala)	NPAP1 (G992A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393059	NM_018958.3(NPAP1):c.964C>T (p.Arg322Cys)	NPAP1 (R322C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393058	NM_018958.3(NPAP1):c.80C>T (p.Pro27Leu)	NPAP1 (P27L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393057	NM_018958.3(NPAP1):c.2351C>T (p.Thr784Ile)	NPAP1 (T784I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389125	NM_018958.3(NPAP1):c.401C>A (p.Ala134Glu)	NPAP1 (A134E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373459	NM_018958.3(NPAP1):c.352C>T (p.Pro118Ser)	NPAP1 (P118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353069	NM_018958.3(NPAP1):c.166C>T (p.Arg56Cys)	NPAP1 (R56C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330849	NM_018958.3(NPAP1):c.2011C>T (p.Pro671Ser)	NPAP1 (P671S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330699	NM_018958.3(NPAP1):c.866C>T (p.Ser289Phe)	NPAP1 (S289F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319384	NM_018958.3(NPAP1):c.749G>C (p.Arg250Pro)	NPAP1 (R250P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311910	NM_018958.3(NPAP1):c.247G>A (p.Gly83Arg)	NPAP1 (G83R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306340	NM_018958.3(NPAP1):c.781G>T (p.Ala261Ser)	NPAP1 (A261S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298496	NM_018958.3(NPAP1):c.2053G>T (p.Ala685Ser)	NPAP1 (A685S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291208	NM_018958.3(NPAP1):c.88C>T (p.Arg30Trp)	NPAP1 (R30W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284004	NM_018958.3(NPAP1):c.362G>T (p.Arg121Leu)	NPAP1 (R121L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263741	NM_018958.3(NPAP1):c.3449A>G (p.His1150Arg)	NPAP1 (H1150R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239628	NM_018958.3(NPAP1):c.822G>C (p.Gln274His)	NPAP1 (Q274H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228122	NM_018958.3(NPAP1):c.2890G>T (p.Val964Phe)	NPAP1 (V964F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879315	GRCh37/hg19 15q11.2-13.1(chr15:23684645-28566612)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1879314	GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1	ATP10A, CYFIP1 +26 more	Copy number loss	not provided	GPathogenic
Select item 1809289	GRCh37/hg19 15q11.2-13.1(chr15:23632678-28545355)x3	ATP10A, GABRA5 +22 more	Copy number gain	not provided	GPathogenic
Select item 1808719	GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808717	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 1808668	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28534245)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808643	GRCh37/hg19 15q11.2-13.1(chr15:23615769-28545601)x3	ATP10A, GABRA5 +22 more	Copy number gain	not provided	GPathogenic
Select item 1808627	GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4	APBA2, ATP10A +32 more	Copy number gain	not provided	GPathogenic
Select item 1808619	GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4	ATP10A, CYFIP1 +26 more	Copy number gain	not provided	GPathogenic
Select item 1807745	GRCh37/hg19 15q11.2-13.1(chr15:23670891-28561671)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807576	GRCh37/hg19 15q11.2-13.1(chr15:23620192-28545459)x3	HERC2, IPW +22 more	Copy number gain	not provided	GPathogenic
Select item 1711392	GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1	ATP10A, CYFIP1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1707430	GRCh37/hg19 15q11.2-13.1(chr15:23288374-28534245)x1	ATP10A, GABRA5 +22 more	Copy number loss	See cases	GPathogenic
Select item 1707424	GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368)	APBA2, ARHGAP11B +42 more	Copy number gain	See cases	GPathogenic
Select item 1705939	GRCh37/hg19 15q11.2(chr15:22770421-25648680)x1	CYFIP1, GOLGA6L2 +20 more	Copy number loss	Hypotonia	GPathogenic
Select item 1704347	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29057676)x3	ATP10A, CYFIP1 +27 more	Copy number gain	FETAL DEMISE	GUncertain significance
Select item 1703689	Single allele	APBA2, ARHGAP11B +42 more	Complex	Distal tetrasomy 15q	GPathogenic
Select item 1703673	GRCh37/hg19 15q11.2-13.1(chr15:23689315-28644578)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703672	GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014)	APBA2, ATP10A +30 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703671	GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399)	ENTREP2, APBA2 +28 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703670	GRCh37/hg19 15q11.2-13.1(chr15:23290862-28522838)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703669	GRCh37/hg19 15q11.2-13.1(chr15:23615768-28522838)	ATP10A, GABRA5 +22 more	Copy number loss	Angelman syndrome	GPathogenic
Select item 1703637	GRCh37/hg19 15q11.2-13.1(chr15:23620191-28545601)	ATP10A, GABRA5 +22 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 1703557	GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058)	ATP10A, CYFIP1 +26 more	Copy number loss	Prader-Willi syndrome	GPathogenic
Select item 1703231	Single allele	OCA2, PWAR1 +178 more	Duplication	15q11q13 microduplication syndrome	GPathogenic

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