ClinVar for MedGen (Select 862791) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 310

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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
Select item 2068604	NM_001368809.2(AMPD2):c.1175T>C (p.Val392Ala)	AMPD2, LOC126805822 (V371A +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2065452	NM_001368809.2(AMPD2):c.2356G>A (p.Val786Met)	AMPD2 (V765M +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2063948	NM_001368809.2(AMPD2):c.1246C>T (p.Leu416=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2063458	NM_001368809.2(AMPD2):c.1173C>T (p.Ile391=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2062124	NM_001368809.2(AMPD2):c.423-6C>G	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2055252	NM_001368809.2(AMPD2):c.185G>A (p.Arg62His)	AMPD2 (R116H +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2055247	NM_001368809.2(AMPD2):c.1035C>T (p.Ala345=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2053546	NM_001368809.2(AMPD2):c.700G>A (p.Asp234Asn)	AMPD2 (D234N +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2053382	NM_001368809.2(AMPD2):c.1080+16G>A	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2048657	NM_001368809.2(AMPD2):c.2157+14_2157+15delinsCC	AMPD2	Indel (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2047830	NM_001368809.2(AMPD2):c.1365G>A (p.Thr455=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2047802	NM_001368809.2(AMPD2):c.1861A>G (p.Arg621Gly)	AMPD2 (R557G +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2043246	NM_001368809.2(AMPD2):c.2013G>A (p.Leu671=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2043224	NM_001368809.2(AMPD2):c.-95T>C	AMPD2 (L23P)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2042788	NM_001368809.2(AMPD2):c.144G>A (p.Pro48=)	AMPD2	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2041226	NM_001368809.2(AMPD2):c.1863-3dup	AMPD2	Duplication (intron variant)	Hereditary spastic paraplegia 63 +1 more	GBenign
Select item 2040907	NM_001368809.2(AMPD2):c.1338C>T (p.Ser446=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2031731	NM_001368809.2(AMPD2):c.1408-3_1418del	AMPD2, LOC126805822	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 63 +1 more	GLikely pathogenic
Select item 2024759	NM_001368809.2(AMPD2):c.222+15C>T	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2016131	NM_001368809.2(AMPD2):c.2157+16G>T	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2010660	NM_001368809.2(AMPD2):c.190T>G (p.Ser64Ala)	AMPD2 (S64A +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2006832	NM_001368809.2(AMPD2):c.1825A>T (p.Thr609Ser)	AMPD2 (T545S +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2004862	NM_001368809.2(AMPD2):c.319C>T (p.Gln107Ter)	AMPD2 (Q107* +4 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2003224	NM_001368809.2(AMPD2):c.50T>C (p.Phe17Ser)	AMPD2, LOC129931109 (F17S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1992528	NM_001368809.2(AMPD2):c.823G>A (p.Val275Met)	AMPD2 (V211M +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1991577	NM_001368809.2(AMPD2):c.-43_-24dup	AMPD2 (L16fs)	Duplication (frameshift variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 1990066	NM_001368809.2(AMPD2):c.316C>T (p.Arg106Trp)	AMPD2 (R106W +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 1986137	NM_001368809.2(AMPD2):c.1146G>A (p.Arg382=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	AMPD2-related condition +2 more	GLikely benign

<< First< Prev

Page of 4