ClinVar for Gene (Select 4692) - 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 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 3057785	NM_002487.3(NDN):c.723A>G (p.Gln241=)	NDN	Single nucleotide variant (synonymous variant)	NDN-related condition	GLikely benign
Select item 3045622	NM_002487.3(NDN):c.123G>T (p.Pro41=)	NDN	Single nucleotide variant (synonymous variant)	NDN-related condition	GLikely benign
Select item 2796505	NM_002487.3(NDN):c.858C>T (p.Asp286=)	NDN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2689545	NM_002487.3(NDN):c.15T>G (p.Ser5Arg)	NDN (S5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2645005	NM_002487.3(NDN):c.504C>T (p.Val168=)	NDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619134	NM_002487.3(NDN):c.176A>G (p.Gln59Arg)	NDN (Q59R)	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 2557553	NM_002487.3(NDN):c.386T>C (p.Ile129Thr)	NDN (I129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556696	NM_002487.3(NDN):c.130C>G (p.Pro44Ala)	NDN (P44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521032	NM_002487.3(NDN):c.418C>A (p.Leu140Ile)	NDN (L140I)	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 2483267	NM_002487.3(NDN):c.796G>A (p.Ala266Thr)	NDN (A266T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454917	NM_002487.3(NDN):c.56A>G (p.Asn19Ser)	NDN (N19S)	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 2426508	NC_000015.9:g.(?_23006221)_(23932364_?)del	GOLGA6L2, MAGEL2 +4 more	Deletion	not provided	GUncertain significance
Select item 2394062	NM_002487.3(NDN):c.413G>A (p.Ser138Asn)	NDN (S138N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389244	NM_002487.3(NDN):c.65T>G (p.Val22Gly)	NDN (V22G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384532	NM_002487.3(NDN):c.244G>T (p.Ala82Ser)	NDN (A82S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299032	NM_002487.3(NDN):c.729T>A (p.Asn243Lys)	NDN (N243K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295940	NM_002487.3(NDN):c.146C>T (p.Thr49Met)	NDN (T49M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258144	NM_002487.3(NDN):c.198C>G (p.Asp66Glu)	NDN (D66E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257271	NM_002487.3(NDN):c.872C>T (p.Pro291Leu)	NDN (P291L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244038	NM_002487.3(NDN):c.838G>T (p.Ala280Ser)	NDN (A280S)	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
Select item 1675554	NM_002487.3(NDN):c.865G>A (p.Ala289Thr)	NDN (A289T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447182	NC_000015.9:g.(?_23006221)_(23932364_?)dup	GOLGA6L2, MAGEL2 +4 more	Duplication	not provided	GUncertain significance
Select item 1343260	NM_002487.3(NDN):c.871C>A (p.Pro291Thr)	NDN (P291T)	Single nucleotide variant (missense variant)	Prader-Willi syndrome	GUncertain significance
Select item 1342511	NC_000015.10:g.23370759_30529376del	APBA2, ATP10A +170 more	Deletion	Angelman syndrome	GPathogenic
Select item 1340155	GRCh37/hg19 15q11.2(chr15:22770422-24058623)x3	CYFIP1, GOLGA6L2 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 1331566	NM_002487.3(NDN):c.602A>G (p.Lys201Arg)	NDN (K201R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320764	NM_002487.3(NDN):c.340C>G (p.Gln114Glu)	NDN (Q114E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180527	GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1	ATP10A, GABRA5 +22 more	Copy number loss	not provided	GPathogenic
Select item 1172827	GRCh37/hg19 15q11.2-12(chr15:22722801-26749200)	ATP10A, CYFIP1 +22 more	Copy number gain	Cerebral palsy	Grisk factor
Select item 1098669	NC_000015.10:g.22804175_30375696dup	PWRN1, SNORD116-6 +184 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 1012382	GRCh37/hg19 15q11.2-12(chr15:22833525-27193380)x4	GABRA5, ATP10A +23 more	Copy number gain	not provided	GPathogenic
Select item 997087	GRCh37/hg19 15q11.2-13.1(chr15:23208842-28525460)	ATP10A, GABRA5 +22 more	Copy number gain	Epileptic encephalopathy	GPathogenic
Select item 992644	GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1	HERC2, GABRA5 +21 more	Copy number loss	not provided	GPathogenic
Select item 974578	Single allele	GABRA5, NPAP1 +22 more	Deletion	Angelman syndrome	GPathogenic
Select item 974577	Single allele	ATP10A, CYFIP1 +26 more	Deletion	Angelman syndrome	GPathogenic
Select item 974576	Single allele	PWAR5, ATP10A +28 more	Deletion	Angelman syndrome	GPathogenic
Select item 930829	NM_002487.3(NDN):c.472dup (p.Thr158fs)	NDN (T158fs)	Duplication (frameshift variant)	Prader-Willi syndrome	GUncertain significance
Select item 930471	NM_002487.3(NDN):c.212A>G (p.Gln71Arg)	NDN (Q71R)	Single nucleotide variant (missense variant)	Prader-Willi syndrome	GUncertain significance
Select item 815689	GRCh37/hg19 15q11.2-12(chr15:23288374-27706996)x1	GOLGA6L2, SNURF +20 more	Copy number loss	not provided	GPathogenic
Select item 815688	GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1	CHRFAM7A, GOLGA8M +38 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815686	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4	ENTREP2, APBA2 +45 more	Copy number gain	not provided	GPathogenic
Select item 815685	GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4	APBA2, ATP10A +32 more	Copy number gain	not provided	GPathogenic
Select item 791096	NM_002487.3(NDN):c.690C>T (p.Asp230=)	NDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 779158	NM_002487.3(NDN):c.51C>A (p.Ala17=)	NDN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 762141	NM_002487.3(NDN):c.649C>T (p.Leu217=)	NDN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 754947	NM_002487.3(NDN):c.117A>G (p.Ala39=)	NDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743270	NM_002487.3(NDN):c.174C>G (p.Pro58=)	NDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735178	NM_002487.3(NDN):c.768C>T (p.Pro256=)	NDN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735177	NM_002487.3(NDN):c.949A>G (p.Ser317Gly)	NDN (S317G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713375	NM_002487.3(NDN):c.263C>T (p.Pro88Leu)	NDN (P88L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685306	GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3	APBA2, ARHGAP11A +52 more	Copy number gain	not provided	GPathogenic
Select item 666599	Single allele	ATP10A, GABRA5 +21 more	Duplication	15q11q13 microduplication syndrome	GPathogenic
Select item 638670	Single allele	APBA2, ATP10A +32 more	Complex	Seizure +3 more	GPathogenic

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