PDE2A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 1896353	NM_002599.5(PDE2A):c.2823G>A (p.Glu941=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626514	NM_002599.5(PDE2A):c.2820T>C (p.Ala940=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168004	NM_002599.5(PDE2A):c.2817T>A (p.Asp939Glu)	PDE2A (D918E +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2005827	NM_002599.5(PDE2A):c.2795T>A (p.Ile932Asn)	PDE2A (I911N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792274	NM_002599.5(PDE2A):c.2791C>T (p.Pro931Ser)	PDE2A (P922S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3305358	NM_002599.5(PDE2A):c.2764G>A (p.Val922Met)	PDE2A (V915M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1914658	NM_002599.5(PDE2A):c.2757G>A (p.Glu919=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421376	NM_002599.5(PDE2A):c.2736G>A (p.Ser912=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2239191	NM_002599.5(PDE2A):c.2729A>G (p.Asn910Ser)	PDE2A (N903S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1965653	NM_002599.5(PDE2A):c.2714G>T (p.Arg905Leu)	PDE2A (R884L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986280	NM_002599.5(PDE2A):c.2713C>T (p.Arg905Cys)	PDE2A (R905C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912203	NM_002599.5(PDE2A):c.2706C>T (p.Phe902=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642122	NM_002599.5(PDE2A):c.2688C>A (p.Thr896=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624653	NM_002599.5(PDE2A):c.2679G>A (p.Glu893=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2475203	NM_002599.5(PDE2A):c.2675G>A (p.Arg892His)	PDE2A (R883H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1167963	NM_002599.5(PDE2A):c.2655C>T (p.Tyr885=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2823025	NM_002599.5(PDE2A):c.2648A>T (p.Glu883Val)	PDE2A (E883V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1651308	NM_002599.5(PDE2A):c.2643G>A (p.Ala881=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599138	NM_002599.5(PDE2A):c.2616-12del	PDE2A	Deletion (intron variant)	not provided	GBenign
Select item 1599864	NM_002599.5(PDE2A):c.2616-13C>G	PDE2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168226	NM_002599.5(PDE2A):c.2616-13del	PDE2A	Deletion (intron variant)	not provided	GBenign
Select item 2833693	NM_002599.5(PDE2A):c.2615+14T>C	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015273	NM_002599.5(PDE2A):c.2607C>T (p.Pro869=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170426	NM_002599.5(PDE2A):c.2601A>G (p.Ala867=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1500565	NM_002599.5(PDE2A):c.2550G>T (p.Arg850=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598177	NM_002599.5(PDE2A):c.2532G>A (p.Pro844=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637431	NM_002599.5(PDE2A):c.2509-11G>A	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902076	NM_002599.5(PDE2A):c.2509-16G>A	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902679	NM_002599.5(PDE2A):c.2509-17C>T	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810704	NM_002599.5(PDE2A):c.2508+19C>T	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1613485	NM_002599.5(PDE2A):c.2508+9G>A	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789271	NM_002599.5(PDE2A):c.2508+7G>A	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564554	NM_002599.5(PDE2A):c.2470-13G>C	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2041974	NM_002599.5(PDE2A):c.2469+7G>C	PDE2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2971032	NM_002599.5(PDE2A):c.2469G>A (p.Ala823=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2217720	NM_002599.5(PDE2A):c.2444G>T (p.Gly815Val)	PDE2A (G815V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305363	NM_002599.5(PDE2A):c.2438C>T (p.Thr813Ile)	PDE2A (T792I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2133677	NM_002599.5(PDE2A):c.2409C>T (p.Leu803=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929747	NM_002599.5(PDE2A):c.2403C>T (p.Cys801=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2434621	NM_002599.5(PDE2A):c.2369G>A (p.Arg790Gln)	PDE2A (R769Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1519639	NM_002599.5(PDE2A):c.2365G>A (p.Asp789Asn)	PDE2A (D768N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591091	NM_002599.5(PDE2A):c.2364C>T (p.Tyr788=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608465	NM_002599.5(PDE2A):c.2357-9C>T	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651154	NM_002599.5(PDE2A):c.2357-13C>T	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2103594	NM_002599.5(PDE2A):c.2356+6T>C	PDE2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1911121	NM_002599.5(PDE2A):c.2324G>A (p.Arg775His)	PDE2A (R768H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683594	NM_002599.5(PDE2A):c.2323C>T (p.Arg775Cys)	PDE2A (R754C +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with paroxysmal dyskinesia or seizures	GUncertain significance
Select item 2642123	NM_002599.5(PDE2A):c.2277T>C (p.Asp759=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167076	NM_002599.5(PDE2A):c.2257-7G>A	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908287	NM_002599.5(PDE2A):c.2257-17C>T	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835561	NM_002599.5(PDE2A):c.2256+13G>T	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534914	NM_002599.5(PDE2A):c.2256+7G>A	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3337442	NM_002599.5(PDE2A):c.2256+1G>A	PDE2A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2094340	NM_002599.5(PDE2A):c.2238T>G (p.Phe746Leu)	PDE2A (F725L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992275	NM_002599.5(PDE2A):c.2233A>G (p.Ile745Val)	PDE2A (I745V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1315776	NM_002599.5(PDE2A):c.2228G>A (p.Cys743Tyr)	PDE2A (C722Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902981	NM_002599.5(PDE2A):c.2223C>T (p.His741=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1167655	NM_002599.5(PDE2A):c.2205C>T (p.Ile735=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2176745	NM_002599.5(PDE2A):c.2182-4C>G	PDE2A	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1544670	NM_002599.5(PDE2A):c.2182-4C>T	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2037699	NM_002599.5(PDE2A):c.2182-19A>G	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665701	NM_002599.5(PDE2A):c.2181+13T>G	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553564	NM_002599.5(PDE2A):c.2181+6_2181+7dup	PDE2A	Duplication (intron variant)	not provided	GLikely benign
Select item 2161756	NM_002599.5(PDE2A):c.2172C>T (p.Ser724=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1552992	NM_002599.5(PDE2A):c.2154C>T (p.Leu718=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588559	NM_002599.5(PDE2A):c.2151G>A (p.Ala717=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696651	NM_002599.5(PDE2A):c.2134-2A>G	PDE2A	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with paroxysmal dyskinesia or seizures	GLikely pathogenic
Select item 2749042	NM_002599.5(PDE2A):c.2134-18T>C	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2028145	NM_002599.5(PDE2A):c.2133+16G>A	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666506	NM_002599.5(PDE2A):c.2133+7C>T	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170427	NM_002599.5(PDE2A):c.2133+3A>G	PDE2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2124875	NM_002599.5(PDE2A):c.2132C>T (p.Ser711Leu)	PDE2A (S711L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337443	NM_002599.5(PDE2A):c.2123A>C (p.Gln708Pro)	PDE2A (Q687P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1669022	NM_002599.5(PDE2A):c.2076C>T (p.Ser692=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552063	NM_002599.5(PDE2A):c.2067G>A (p.Leu689=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616351	NM_002599.5(PDE2A):c.2065T>C (p.Leu689=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897588	NM_002599.5(PDE2A):c.2058C>A (p.Ile686=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388190	NM_002599.5(PDE2A):c.2046-7C>A	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540644	NM_002599.5(PDE2A):c.2046-15C>T	PDE2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1917367	NM_002599.5(PDE2A):c.2038T>G (p.Tyr680Asp)	PDE2A (Y659D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1615142	NM_002599.5(PDE2A):c.1980C>T (p.His660=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2730410	NM_002599.5(PDE2A):c.1940A>G (p.Lys647Arg)	PDE2A (K638R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362652	NM_002599.5(PDE2A):c.1926C>A (p.Phe642Leu)	PDE2A (F621L +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with paroxysmal dyskinesia or seizures	GUncertain significance
Select item 3305359	NM_002599.5(PDE2A):c.1923G>C (p.Arg641=)	PDE2A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1657043	NM_002599.5(PDE2A):c.1923-4C>A	PDE2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 995830	NM_002599.5(PDE2A):c.1922+5G>A	PDE2A	Single nucleotide variant (intron variant)	Intellectual developmental disorder with paroxysmal dyskinesia or seizures	GPathogenic
Select item 1424277	NM_002599.5(PDE2A):c.1922+4C>T	PDE2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2088213	NM_002599.5(PDE2A):c.1922G>A (p.Arg641Gln)	PDE2A (R632Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574058	NM_002599.5(PDE2A):c.1914C>T (p.Thr638=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119369	NM_002599.5(PDE2A):c.1893C>T (p.Asn631=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502294	NM_002599.5(PDE2A):c.1851+3G>A	PDE2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1330238	NM_002599.5(PDE2A):c.1849A>G (p.Met617Val)	PDE2A (M596V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2413584	NM_002599.5(PDE2A):c.1845G>A (p.Thr615=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352280	NM_002599.5(PDE2A):c.1812C>A (p.Thr604=)	PDE2A	Single nucleotide variant (synonymous variant)	PDE2A-related disorder	GLikely benign
Select item 2623163	NM_002599.5(PDE2A):c.1796A>G (p.Asn599Ser)	PDE2A (N592S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1621394	NM_002599.5(PDE2A):c.1785C>T (p.Ala595=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1698014	NM_002599.5(PDE2A):c.1754T>C (p.Leu585Pro)	PDE2A (L564P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170428	NM_002599.5(PDE2A):c.1737T>C (p.Asp579=)	PDE2A	Single nucleotide variant (synonymous variant)	not provided	GBenign

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