ClinVar for Gene (Select 271) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 3054693	NM_001368809.2(AMPD2):c.2253C>T (p.Ser751=)	AMPD2	Single nucleotide variant (synonymous variant)	AMPD2-related condition	GLikely benign
Select item 3052064	NM_001368809.2(AMPD2):c.864C>T (p.Cys288=)	AMPD2	Single nucleotide variant (synonymous variant)	AMPD2-related condition	GLikely benign
Select item 3038095	NM_001368809.2(AMPD2):c.1029G>A (p.Glu343=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	AMPD2-related condition	GLikely benign
Select item 3033482	NM_001368809.2(AMPD2):c.1263G>A (p.Leu421=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	AMPD2-related condition	GLikely benign
Select item 2953712	NM_001368809.2(AMPD2):c.1704T>C (p.Asp568=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2952403	NM_001368809.2(AMPD2):c.1863-7C>T	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2951122	NM_001368809.2(AMPD2):c.1081-18T>C	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2949377	NM_001368809.2(AMPD2):c.831C>T (p.His277=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +2 more	GLikely benign
Select item 2949015	NM_001368809.2(AMPD2):c.294C>T (p.Pro98=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2942737	NM_001368809.2(AMPD2):c.948C>T (p.Pro316=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2939020	NM_001368809.2(AMPD2):c.2158-14C>T	AMPD2	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2937246	NM_001368809.2(AMPD2):c.456C>T (p.Asp152=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2936316	NM_001368809.2(AMPD2):c.321G>A (p.Gln107=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2934518	NM_001368809.2(AMPD2):c.1881G>A (p.Thr627=)	AMPD2	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2933884	NM_001368809.2(AMPD2):c.1080+18G>A	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2932945	NM_001368809.2(AMPD2):c.1197A>G (p.Glu399=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2932689	NM_001368809.2(AMPD2):c.1275+15C>T	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2932168	NM_001368809.2(AMPD2):c.1862+10C>G	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2929415	NM_001368809.2(AMPD2):c.2127T>C (p.Thr709=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2927487	NM_001368809.2(AMPD2):c.2064C>T (p.Leu688=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2926597	NM_001368809.2(AMPD2):c.756G>A (p.Pro252=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2926159	NM_001368809.2(AMPD2):c.950+19C>A	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2925855	NM_001368809.2(AMPD2):c.252C>T (p.Ser84=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2923496	NM_001368809.2(AMPD2):c.1110C>T (p.Cys370=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2923120	NM_001368809.2(AMPD2):c.679C>T (p.Arg227Trp)	AMPD2 (R200W +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2922355	NM_001368809.2(AMPD2):c.2403G>A (p.Thr801=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2683723	NM_001368809.2(AMPD2):c.694G>A (p.Gly232Ser)	AMPD2 (G168S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638983	NM_001368809.2(AMPD2):c.96T>C (p.Ala32=)	AMPD2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2622324	NM_001368809.2(AMPD2):c.239C>T (p.Ser80Leu)	AMPD2 (S134L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611812	NM_001368809.2(AMPD2):c.601A>G (p.Met201Val)	AMPD2 (M180V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597361	NM_001368809.2(AMPD2):c.1504C>T (p.Arg502Cys)	AMPD2, LOC126805822 (R475C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582858	NM_001368809.2(AMPD2):c.2170GAG[1] (p.Glu725del)	AMPD2 (E661del +4 more)	Microsatellite (inframe_indel +1 more)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2580688	NM_001368809.2(AMPD2):c.1364C>T (p.Thr455Met)	AMPD2, LOC126805822 (T391M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2553813	NM_001368809.2(AMPD2):c.1138A>G (p.Ile380Val)	AMPD2, LOC126805822 (I359V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528613	NM_001368809.2(AMPD2):c.1600G>A (p.Ala534Thr)	AMPD2, LOC126805822 (A470T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507244	NM_001368809.2(AMPD2):c.2348A>T (p.Asp783Val)	AMPD2 (D719V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505105	NM_001368809.2(AMPD2):c.2089G>C (p.Glu697Gln)	AMPD2 (E633Q +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	Gnot provided
Select item 2503047	NM_001368809.2(AMPD2):c.1858C>A (p.Arg620Ser)	AMPD2 (R556S +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9	GLikely pathogenic
Select item 2500190	NM_001368809.2(AMPD2):c.265_277del (p.Ala89fs)	AMPD2 (A25fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 63	GPathogenic
Select item 2499780	NM_001368809.2(AMPD2):c.1523G>A (p.Arg508His)	AMPD2, LOC126805822 (R444H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2488496	NM_001368809.2(AMPD2):c.1199A>C (p.Gln400Pro)	AMPD2, LOC126805822 (Q400P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2421244	NM_001368809.2(AMPD2):c.1513G>A (p.Val505Ile)	AMPD2, LOC126805822 (V441I +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +2 more	GUncertain significance
Select item 2417195	NM_001368809.2(AMPD2):c.1571+19G>A	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2391368	NM_001368809.2(AMPD2):c.244G>A (p.Ala82Thr)	AMPD2 (A136T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321793	NM_001368809.2(AMPD2):c.-27C>A	AMPD2 (P46T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2319714	NM_001368809.2(AMPD2):c.-30T>A	AMPD2 (S45T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2297501	NM_001368809.2(AMPD2):c.646C>G (p.Leu216Val)	AMPD2 (L195V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294268	NM_001368809.2(AMPD2):c.2428G>A (p.Glu810Lys)	AMPD2 (E746K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291155	NM_001368809.2(AMPD2):c.923T>C (p.Leu308Pro)	AMPD2 (L244P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284739	NM_001368809.2(AMPD2):c.1700T>C (p.Val567Ala)	AMPD2 (V567A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228742	NM_001368809.2(AMPD2):c.842G>T (p.Arg281Leu)	AMPD2 (R281L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228440	NM_001368809.2(AMPD2):c.1698C>T (p.His566=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2227783	NM_001368809.2(AMPD2):c.1275G>A (p.Ala425=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +2 more	GUncertain significance
Select item 2201845	NM_001368809.2(AMPD2):c.353+8C>A	AMPD2	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2197424	NM_001368809.2(AMPD2):c.120G>A (p.Pro40=)	AMPD2	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2197422	NM_001368809.2(AMPD2):c.1474C>T (p.Arg492Cys)	AMPD2, LOC126805822 (R428C +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2196114	NM_001368809.2(AMPD2):c.853G>A (p.Asp285Asn)	AMPD2 (D258N +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2187744	NM_001368809.2(AMPD2):c.2268+11G>A	AMPD2	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2186860	NM_001368809.2(AMPD2):c.719-13C>T	AMPD2	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2186193	NM_001368809.2(AMPD2):c.152C>T (p.Ala51Val)	AMPD2 (A24V +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2181780	NM_001368809.2(AMPD2):c.2360G>A (p.Gly787Asp)	AMPD2 (G766D +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2181065	NM_001368809.2(AMPD2):c.1478C>T (p.Ser493Leu)	AMPD2, LOC126805822 (S493L +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2166876	NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr)	AMPD2 (A105T +2 more)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2166531	NM_001368809.2(AMPD2):c.2254G>T (p.Gly752Cys)	AMPD2 (G688C +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2165982	NM_001368809.2(AMPD2):c.1971C>T (p.Leu657=)	AMPD2	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2164928	NM_001368809.2(AMPD2):c.842G>A (p.Arg281His)	AMPD2 (R254H +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2163897	NM_001368809.2(AMPD2):c.2158-6G>C	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2160165	NM_001368809.2(AMPD2):c.1503G>A (p.Ala501=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2159456	NM_001368809.2(AMPD2):c.467G>A (p.Arg156Gln)	AMPD2 (R92Q +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2159098	NM_001368809.2(AMPD2):c.1534C>T (p.Pro512Ser)	AMPD2, LOC126805822 (P512S +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2157828	NM_001368809.2(AMPD2):c.353+3G>A	AMPD2	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2156989	NM_001368809.2(AMPD2):c.222+20G>T	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2155909	NM_001368809.2(AMPD2):c.2234G>A (p.Arg745His)	AMPD2 (R724H +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2155097	NM_001368809.2(AMPD2):c.741G>A (p.Ala247=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2152947	NM_001368809.2(AMPD2):c.376C>T (p.Arg126Trp)	AMPD2 (R105W +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2148906	NM_001368809.2(AMPD2):c.-45C>T	AMPD2 (R40W)	Single nucleotide variant (missense variant +3 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2147368	NM_001368809.2(AMPD2):c.705C>T (p.Thr235=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2147040	NM_001368809.2(AMPD2):c.2268+18T>C	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2146034	NM_001368809.2(AMPD2):c.2173G>A (p.Glu725Lys)	AMPD2 (E661K +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2140598	NM_001368809.2(AMPD2):c.808C>T (p.Arg270Cys)	AMPD2 (R206C +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 2140351	NM_001368809.2(AMPD2):c.1276-13C>T	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2137104	NM_001368809.2(AMPD2):c.1179C>T (p.His393=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2135689	NM_001368809.2(AMPD2):c.-119G>C	AMPD2 (C15S)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2131370	NM_001368809.2(AMPD2):c.330G>A (p.Glu110=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2128666	NM_001368809.2(AMPD2):c.41A>T (p.Lys14Ile)	AMPD2, LOC129931109 (N37Y +2 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2115579	NM_001368809.2(AMPD2):c.487C>T (p.Arg163Trp)	AMPD2 (R142W +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2112470	NM_001368809.2(AMPD2):c.1699-5A>G	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2105117	NM_001368809.2(AMPD2):c.1505G>A (p.Arg502His)	LOC126805822, AMPD2 (R438H +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2090459	NM_001368809.2(AMPD2):c.66C>T (p.Ser22=)	LOC129931109, AMPD2 (A45V)	Single nucleotide variant (synonymous variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2089119	NM_001368809.2(AMPD2):c.2017C>G (p.Gln673Glu)	AMPD2 (Q609E +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2084437	NM_001368809.2(AMPD2):c.950+12G>C	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2080358	NM_001368809.2(AMPD2):c.755C>T (p.Pro252Leu)	AMPD2 (P188L +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 2080168	NM_001368809.2(AMPD2):c.2151C>T (p.Phe717=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2077392	NM_001368809.2(AMPD2):c.574C>A (p.Arg192=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2072505	NM_001368809.2(AMPD2):c.1329T>C (p.Ile443=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2069799	NM_001368809.2(AMPD2):c.640C>T (p.Arg214Cys)	AMPD2 (R150C +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance

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