AMPD2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 1246281	NC_000001.11:g.109619568C>T	AMPD2, GNAT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1223444	NC_000001.11:g.109619696G>C	AMPD2	Single nucleotide variant	not provided	GLikely benign
Select item 1256631	NM_001368809.2(AMPD2):c.-615C>T	AMPD2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1255291	NM_001368809.2(AMPD2):c.-263+18T>C	AMPD2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1207664	NM_001368809.2(AMPD2):c.-263+95A>G	AMPD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271710	NM_001368809.2(AMPD2):c.-263+176A>G	AMPD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1484677	NM_001368809.2(AMPD2):c.-161T>G	AMPD2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 1128955	NM_001368809.2(AMPD2):c.-151T>C	AMPD2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 1524824	NM_001368809.2(AMPD2):c.-149G>A	AMPD2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1915911	NM_001368809.2(AMPD2):c.-133C>T	AMPD2	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2135689	NM_001368809.2(AMPD2):c.-119G>C	AMPD2 (C15S)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 706538	NM_001368809.2(AMPD2):c.-112G>A	AMPD2	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2043224	NM_001368809.2(AMPD2):c.-95T>C	AMPD2 (L23P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1552312	NM_001368809.2(AMPD2):c.-94G>T	AMPD2	Single nucleotide variant (5 prime UTR variant +1 more)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 649488	NM_001368809.2(AMPD2):c.-75G>T	AMPD2 (G30W)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1135001	NM_001368809.2(AMPD2):c.-67T>C	AMPD2 (M1T)	Single nucleotide variant (missense variant +3 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 706956	NM_001368809.2(AMPD2):c.-52C>G	AMPD2 (A6G)	Single nucleotide variant (missense variant +3 more)	Hereditary spastic paraplegia 63 +2 more	GBenign/Likely benign
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 1427576	NM_001368809.2(AMPD2):c.-46C>G	AMPD2 (A8G)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2148906	NM_001368809.2(AMPD2):c.-45C>T	AMPD2 (R40W)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1546575	NM_001368809.2(AMPD2):c.-43G>T	AMPD2 (G9V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1387814	NM_001368809.2(AMPD2):c.-38G>A	AMPD2 (A11T)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	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 2321793	NM_001368809.2(AMPD2):c.-27C>A	AMPD2 (P46T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1557648	NM_001368809.2(AMPD2):c.-19C>T	AMPD2 (S17L)	Single nucleotide variant (intron variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1479471	NM_001368809.2(AMPD2):c.-18G>T	AMPD2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1578523	NM_001368809.2(AMPD2):c.-13C>T	AMPD2 (P19L)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 390606	NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe)	AMPD2 (P26S +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 9 +4 more	GUncertain significance
Select item 1648258	NM_001368809.2(AMPD2):c.21C>T (p.Gly7=)	AMPD2, LOC129931109 (A30V)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 474995	NM_001368809.2(AMPD2):c.23C>G (p.Ser8Cys)	AMPD2, LOC129931109 (L31V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 63 +2 more	GUncertain significance
Select item 731965	NM_001368809.2(AMPD2):c.27C>A (p.Gly9=)	AMPD2, LOC129931109 (A32E)	Single nucleotide variant (missense variant +2 more)	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)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2003224	NM_001368809.2(AMPD2):c.50T>C (p.Phe17Ser)	AMPD2, LOC129931109 (F17S +1 more)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 2090459	NM_001368809.2(AMPD2):c.66C>T (p.Ser22=)	AMPD2, LOC129931109 (A45V)	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 474996	NM_001368809.2(AMPD2):c.72G>A (p.Gln24=)	AMPD2, LOC129931109 (R47K)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1461128	NM_001368809.2(AMPD2):c.73G>T (p.Ala25Ser)	AMPD2, LOC129931109 (R47S +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 1941095	NM_001368809.2(AMPD2):c.81T>C (p.Thr27=)	AMPD2, LOC129931109 (L50P)	Single nucleotide variant (synonymous variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 1098760	NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr)	AMPD2, LOC129931109 (A28T)	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 63 +3 more	GBenign/Likely benign
Select item 1549133	NM_001368809.2(AMPD2):c.91+9G>A	AMPD2, LOC129931109	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1214808	NM_001368809.2(AMPD2):c.91+78C>A	AMPD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214347	NM_001368809.2(AMPD2):c.91+158T>G	AMPD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208923	NM_001368809.2(AMPD2):c.91+165A>G	AMPD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197668	NM_001368809.2(AMPD2):c.91+170T>G	AMPD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295850	NM_001368809.2(AMPD2):c.91+173T>G	AMPD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1098759	NM_001368809.2(AMPD2):c.91+180C>G	AMPD2	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +3 more	GBenign
Select item 1210557	NM_001368809.2(AMPD2):c.92-200G>A	AMPD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 426650	NM_001368809.2(AMPD2):c.102_103del (p.Gly35fs)	AMPD2 (G35fs +1 more)	Deletion (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1443654	NM_001368809.2(AMPD2):c.104G>T (p.Gly35Val)	AMPD2 (G35V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 474997	NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val)	AMPD2 (L9V +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 740908	NM_001368809.2(AMPD2):c.114C>T (p.Ala38=)	AMPD2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 871869	NM_001368809.2(AMPD2):c.134_138del (p.Arg45fs)	AMPD2 (R45fs +1 more)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 940457	NM_001368809.2(AMPD2):c.134G>A (p.Arg45Gln)	AMPD2 (R18Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1050854	NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu)	AMPD2 (P21L +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +2 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 1415623	NM_001368809.2(AMPD2):c.145G>T (p.Gly49Cys)	AMPD2 (G49C +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1948309	NM_001368809.2(AMPD2):c.150C>T (p.Pro50=)	AMPD2	Single nucleotide variant (synonymous variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2166876	NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr)	AMPD2 (A105T +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 2186193	NM_001368809.2(AMPD2):c.152C>T (p.Ala51Val)	AMPD2 (A24V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 101075	NM_001368809.2(AMPD2):c.157del (p.Cys53fs)	AMPD2 (C53fs +1 more)	Deletion (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63	GPathogenic
Select item 743891	NM_001368809.2(AMPD2):c.174G>A (p.Pro58=)	AMPD2	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1024841	NM_001368809.2(AMPD2):c.175C>T (p.Leu59Phe)	AMPD2 (L32F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 752886	NM_001368809.2(AMPD2):c.177C>T (p.Leu59=)	AMPD2	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 655115	NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn)	AMPD2 (D60N +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 1933357	NM_001368809.2(AMPD2):c.180C>T (p.Asp60=)	AMPD2	Single nucleotide variant (synonymous variant +2 more)	Pontocerebellar hypoplasia type 9 +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)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 1470586	NM_001368809.2(AMPD2):c.189G>A (p.Thr63=)	AMPD2	Single nucleotide variant (5 prime UTR variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 705379	NM_001368809.2(AMPD2):c.189G>C (p.Thr63=)	AMPD2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2010660	NM_001368809.2(AMPD2):c.190T>G (p.Ser64Ala)	AMPD2 (S64A +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1588004	NM_001368809.2(AMPD2):c.216C>T (p.Ile72=)	AMPD2	Single nucleotide variant (synonymous variant +1 more)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 3293352	NM_001368809.2(AMPD2):c.217G>C (p.Ala73Pro)	AMPD2 (A73P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 703839	NM_001368809.2(AMPD2):c.219C>T (p.Ala73=)	AMPD2	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 2024759	NM_001368809.2(AMPD2):c.222+15C>T	AMPD2	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 1564007	NM_001368809.2(AMPD2):c.222+19C>T	AMPD2	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
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 1263313	NM_001368809.2(AMPD2):c.222+33G>A	AMPD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1613636	NM_001368809.2(AMPD2):c.223-5C>A	AMPD2	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 210137	NM_001368809.2(AMPD2):c.223-4C>T	AMPD2	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +3 more	GBenign/Likely benign
Select item 1356248	NM_001368809.2(AMPD2):c.236G>A (p.Arg79His)	AMPD2 (R52H +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1624976	NM_001368809.2(AMPD2):c.237C>G (p.Arg79=)	AMPD2	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 2622324	NM_001368809.2(AMPD2):c.239C>T (p.Ser80Leu)	AMPD2 (S80L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1461420	NM_001368809.2(AMPD2):c.239_262del (p.Ser80_Ser88delinsCys)	AMPD2	Deletion (inframe_indel)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
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 1098293	NM_001368809.2(AMPD2):c.247G>T (p.Glu83Ter)	AMPD2 (E19* +3 more)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 9	GPathogenic
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 3116776	NM_001368809.2(AMPD2):c.260G>A (p.Arg87His)	AMPD2 (R141H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3382962	NM_001368809.2(AMPD2):c.269del (p.Pro90fs)	AMPD2 (P26fs +3 more)	Deletion (frameshift variant)	Hereditary spastic paraplegia 63 +1 more	GLikely pathogenic
Select item 1334982	NM_001368809.2(AMPD2):c.271dup (p.Tyr91fs)	AMPD2 (Y27fs +3 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 706837	NM_001368809.2(AMPD2):c.270G>T (p.Pro90=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1674895	NM_001368809.2(AMPD2):c.276G>A (p.Glu92=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1105729	NM_001368809.2(AMPD2):c.279C>T (p.Phe93=)	AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign

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