Related gene-specific medical variations for Gene (Select 271) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038095	NM_001368809.2(AMPD2):c.1029G>A (p.Glu343=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	AMPD2-related disorder	GLikely benign
Select item 3033482	NM_001368809.2(AMPD2):c.1263G>A (p.Leu421=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	AMPD2-related disorder	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 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 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 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 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 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 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 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)	Inborn genetic diseases +2 more	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1986137	NM_001368809.2(AMPD2):c.1146G>A (p.Arg382=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	AMPD2-related disorder +2 more	GLikely benign
Select item 1982499	NM_001368809.2(AMPD2):c.1637C>T (p.Pro546Leu)	AMPD2, LOC126805822 (P482L +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 1981958	NM_001368809.2(AMPD2):c.1005T>C (p.His335=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 9 +1 more	GBenign
Select item 1950726	NM_001368809.2(AMPD2):c.951-7T>C	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1941095	NM_001368809.2(AMPD2):c.81T>C (p.Thr27=)	AMPD2, LOC129931109 (L50P)	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1939133	NM_001368809.2(AMPD2):c.1699-9C>A	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1938758	NM_001368809.2(AMPD2):c.1525G>A (p.Val509Met)	AMPD2, LOC126805822 (V488M +4 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 1929940	NM_001368809.2(AMPD2):c.1080+3G>A	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1910907	NM_001368809.2(AMPD2):c.1276-18C>G	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1904192	NM_001368809.2(AMPD2):c.1158G>A (p.Arg386=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1804726	NM_001368809.2(AMPD2):c.1502C>T (p.Ala501Val)	AMPD2, LOC126805822 (A437V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1705300	NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)	AMPD2, LOC126805822 (R289* +4 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 63 +1 more	GPathogenic/Likely pathogenic
Select item 1679835	NM_001368809.2(AMPD2):c.1546T>C (p.Trp516Arg)	AMPD2, LOC126805822 (W452R +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9	GUncertain significance
Select item 1667443	NM_001368809.2(AMPD2):c.1276-4C>T	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 1648258	NM_001368809.2(AMPD2):c.21C>T (p.Gly7=)	AMPD2, LOC129931109 (A30V)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 1630339	NM_001368809.2(AMPD2):c.1479G>A (p.Ser493=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 1615838	NM_001368809.2(AMPD2):c.1080+15C>T	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1605361	NM_001368809.2(AMPD2):c.1571+9C>T	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 1602961	NM_001368809.2(AMPD2):c.1699-12G>T	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 1601469	NM_001368809.2(AMPD2):c.1276-20A>G	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1594764	NM_001368809.2(AMPD2):c.1512C>T (p.Ala504=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1592128	NM_001368809.2(AMPD2):c.1572-13G>T	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1572515	NM_001368809.2(AMPD2):c.1050G>A (p.Val350=)	LOC126805822, AMPD2	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1563485	NM_001368809.2(AMPD2):c.1644C>T (p.Phe548=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 1549133	NM_001368809.2(AMPD2):c.91+9G>A	AMPD2, LOC129931109	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 1545964	NM_001368809.2(AMPD2):c.951-11_951-9del	AMPD2, LOC126805822	Microsatellite (intron variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1514550	NM_001368809.2(AMPD2):c.1522C>G (p.Arg508Gly)	AMPD2, LOC126805822 (R444G +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 1512783	NM_001368809.2(AMPD2):c.1446T>A (p.Asn482Lys)	AMPD2, LOC126805822 (N418K +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1508575	NM_001368809.2(AMPD2):c.1698+1G>A	AMPD2, LOC126805822	Single nucleotide variant (splice donor variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely pathogenic
Select item 1497395	NM_001368809.2(AMPD2):c.1202C>T (p.Thr401Met)	AMPD2, LOC126805822 (T337M +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +2 more	GUncertain significance
Select item 1461128	NM_001368809.2(AMPD2):c.73G>T (p.Ala25Ser)	AMPD2, LOC129931109 (R47S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1440839	NM_001368809.2(AMPD2):c.1652C>G (p.Thr551Ser)	AMPD2, LOC126805822 (T487S +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 1394406	NM_001368809.2(AMPD2):c.1583G>A (p.Arg528His)	AMPD2, LOC126805822 (R528H +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1372057	NM_001368809.2(AMPD2):c.1286C>G (p.Thr429Ser)	LOC126805822, AMPD2 (T408S +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 1360386	NM_001368809.2(AMPD2):c.1252G>A (p.Val418Met)	AMPD2, LOC126805822 (V391M +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 1352505	NM_001368809.2(AMPD2):c.1673C>T (p.Pro558Leu)	AMPD2, LOC126805822 (P537L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1349466	NM_001368809.2(AMPD2):c.1193G>A (p.Arg398His)	AMPD2, LOC126805822 (R371H +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GUncertain significance
Select item 1345773	NM_001368809.2(AMPD2):c.1532C>T (p.Ser511Phe)	LOC126805822, AMPD2 (S447F +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 1332816	NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)	AMPD2, LOC126805822 (R260W +3 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 9 +1 more	GConflicting classifications of pathogenicity
Select item 1311823	NM_001368809.2(AMPD2):c.1519C>A (p.His507Asn)	AMPD2, LOC126805822 (H443N +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +2 more	GUncertain significance
Select item 1292880	NM_001368809.2(AMPD2):c.1572-26A>C	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257817	NM_001368809.2(AMPD2):c.1407+50del	AMPD2, LOC126805822	Deletion (intron variant)	not provided	GBenign
Select item 1249640	NM_001368809.2(AMPD2):c.1571+32C>T	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218647	NM_001368809.2(AMPD2):c.1571+124A>G	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210749	NM_001368809.2(AMPD2):c.1326T>C (p.Pro442=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1206649	NM_001368809.2(AMPD2):c.1699-11T>C	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1181251	NM_001368809.2(AMPD2):c.1408-12C>T	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 63 +2 more	GBenign/Likely benign
Select item 1179317	NM_001368809.2(AMPD2):c.1571+97C>G	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166969	NM_001368809.2(AMPD2):c.1272T>C (p.His424=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1112160	NM_001368809.2(AMPD2):c.1236G>A (p.Thr412=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +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)	Pontocerebellar hypoplasia type 9 +3 more	GBenign/Likely benign
Select item 1033798	NM_001368809.2(AMPD2):c.1103C>T (p.Ser368Leu)	LOC126805822, AMPD2 (S347L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63	GUncertain significance
Select item 975490	NM_001368809.2(AMPD2):c.437A>G (p.Gln146Arg)	AMPD2 (Q119R +3 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975089	NM_001368809.2(AMPD2):c.1198C>T (p.Gln400Ter)	AMPD2, LOC126805822 (Q336* +3 more)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 9	GPathogenic
Select item 939658	NM_001368809.2(AMPD2):c.1522C>T (p.Arg508Cys)	AMPD2, LOC126805822 (R481C +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 864592	NM_001368809.2(AMPD2):c.1072A>G (p.Ile358Val)	AMPD2, LOC126805822 (I331V +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 63 +1 more	GUncertain significance
Select item 813899	NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter)	AMPD2, LOC126805822 (R385* +3 more)	Single nucleotide variant (nonsense)	Pontoneocerebellar hypoplasia +2 more	GPathogenic/Likely pathogenic
Select item 813680	NM_001368809.2(AMPD2):c.700G>T (p.Asp234Tyr)	AMPD2 (D170Y +3 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 739438	NM_001368809.2(AMPD2):c.1011A>G (p.Leu337=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
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 707757	NM_001368809.2(AMPD2):c.1203G>A (p.Thr401=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 9 +1 more	GLikely benign
Select item 703857	NM_001368809.2(AMPD2):c.1080+9T>C	AMPD2, LOC126805822	Single nucleotide variant (intron variant)	AMPD2-related disorder +3 more	GBenign/Likely benign
Select item 703122	NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=)	AMPD2, LOC126805822	Single nucleotide variant (synonymous variant)	AMPD2-related disorder +3 more	GBenign/Likely benign

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