ClinVar for Gene (Select 272) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350596	NM_001025389.2(AMPD3):c.1434C>T (p.Asp478=)	AMPD3	Single nucleotide variant (synonymous variant)	AMPD3-related disorder	GLikely benign
Select item 3293441	NM_001025389.2(AMPD3):c.1768G>A (p.Ala590Thr)	AMPD3 (A599T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293436	NM_001025389.2(AMPD3):c.1238G>A (p.Gly413Glu)	AMPD3 (G254E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293425	NM_001025389.2(AMPD3):c.1793C>T (p.Ser598Phe)	AMPD3 (S598F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293414	NM_001025389.2(AMPD3):c.2213G>A (p.Arg738Gln)	AMPD3 (R747Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293402	NM_001025389.2(AMPD3):c.1051C>T (p.Arg351Trp)	AMPD3 (R358W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293391	NM_001025389.2(AMPD3):c.818A>G (p.Tyr273Cys)	AMPD3 (Y114C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242315	GRCh37/hg19 11p15.4(chr11:8548056-10497905)x3	ADM, AKIP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 3116928	NM_001025389.2(AMPD3):c.89G>A (p.Arg30Gln)	AMPD3 (R39Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116916	NM_001025389.2(AMPD3):c.515G>A (p.Arg172His)	AMPD3 (R13H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116909	NM_001025389.2(AMPD3):c.428T>A (p.Ile143Asn)	AMPD3 (I152N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116895	NM_001025389.2(AMPD3):c.2171C>A (p.Pro724His)	AMPD3 (P724H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116888	NM_001025389.2(AMPD3):c.214G>A (p.Ala72Thr)	AMPD3 (A72T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116881	NM_001025389.2(AMPD3):c.209A>G (p.Glu70Gly)	AMPD3 (E70G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116866	NM_001025389.2(AMPD3):c.1751G>A (p.Arg584Gln)	AMPD3 (R593Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116858	NM_001025389.2(AMPD3):c.1730G>T (p.Gly577Val)	AMPD3 (G586V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116849	NM_001025389.2(AMPD3):c.1702G>A (p.Val568Met)	AMPD3 (V409M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116842	NM_001025389.2(AMPD3):c.1615G>A (p.Asp539Asn)	AMPD3 (D380N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116837	NM_001025389.2(AMPD3):c.1562C>T (p.Thr521Met)	AMPD3 (T528M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116822	NM_001025389.2(AMPD3):c.1421C>T (p.Pro474Leu)	AMPD3 (P315L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116815	NM_001025389.2(AMPD3):c.1336A>C (p.Ser446Arg)	AMPD3 (S287R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065721	NM_001025389.2(AMPD3):c.1815_1816del (p.Ile606fs)	AMPD3 (I447fs +3 more)	Deletion (frameshift variant)	Erythrocyte AMP deaminase deficiency	GLikely pathogenic
Select item 3063208	GRCh37/hg19 11p15.4(chr11:9926943-10622476)x1	ADM, AMPD3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 3058715	NM_001025389.2(AMPD3):c.876C>T (p.Asn292=)	AMPD3	Single nucleotide variant (synonymous variant)	AMPD3-related disorder	GLikely benign
Select item 3053536	NM_001025389.2(AMPD3):c.1431-7C>A	AMPD3	Single nucleotide variant (intron variant)	AMPD3-related disorder	GLikely benign
Select item 3050911	NM_001025389.2(AMPD3):c.63G>A (p.Ala21=)	AMPD3	Single nucleotide variant (synonymous variant +1 more)	AMPD3-related disorder	GLikely benign
Select item 3050742	NM_001025389.2(AMPD3):c.816C>T (p.Thr272=)	AMPD3	Single nucleotide variant (synonymous variant)	AMPD3-related disorder	GLikely benign
Select item 3045848	NM_001025389.2(AMPD3):c.1135-6C>A	AMPD3	Single nucleotide variant (intron variant)	AMPD3-related disorder	GLikely benign
Select item 3035621	NM_001025389.2(AMPD3):c.-6+944G>T	AMPD3 (E2D)	Single nucleotide variant (missense variant +1 more)	AMPD3-related disorder	GLikely benign
Select item 3035145	NM_001025389.2(AMPD3):c.1431-3C>T	AMPD3	Single nucleotide variant (intron variant)	AMPD3-related disorder	GLikely benign
Select item 3034967	NM_001025389.2(AMPD3):c.1302G>A (p.Gln434=)	AMPD3	Single nucleotide variant (synonymous variant)	AMPD3-related disorder	GLikely benign
Select item 2624107	NM_001025389.2(AMPD3):c.1955T>A (p.Leu652Gln)	AMPD3 (L661Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560222	NM_001025389.2(AMPD3):c.1718G>A (p.Arg573His)	AMPD3 (R414H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547102	NM_001025389.2(AMPD3):c.484C>T (p.Arg162Trp)	AMPD3 (R169W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544483	NM_001025389.2(AMPD3):c.766G>A (p.Val256Met)	AMPD3 (V97M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523372	NM_001025389.2(AMPD3):c.557C>A (p.Ala186Glu)	AMPD3 (A195E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462981	NM_001025389.2(AMPD3):c.1688A>G (p.Tyr563Cys)	AMPD3 (Y570C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374127	NM_001025389.2(AMPD3):c.1532G>A (p.Arg511Gln)	AMPD3 (R352Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339128	NM_001025389.2(AMPD3):c.1366T>G (p.Trp456Gly)	AMPD3 (W297G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303097	NM_001025389.2(AMPD3):c.1383G>T (p.Lys461Asn)	AMPD3 (K468N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299111	NM_001025389.2(AMPD3):c.5C>T (p.Pro2Leu)	AMPD3 (P11L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284684	NM_001025389.2(AMPD3):c.1260G>C (p.Met420Ile)	AMPD3 (M420I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249324	NM_001025389.2(AMPD3):c.2213G>T (p.Arg738Leu)	AMPD3 (R745L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246971	NM_001025389.2(AMPD3):c.1865A>G (p.Tyr622Cys)	AMPD3 (Y631C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243075	NM_001025389.2(AMPD3):c.2168G>A (p.Gly723Glu)	AMPD3 (G564E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238271	NM_001025389.2(AMPD3):c.557C>T (p.Ala186Val)	AMPD3 (A186V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232896	NM_001025389.2(AMPD3):c.1882C>A (p.Pro628Thr)	AMPD3 (P469T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223440	NM_001025389.2(AMPD3):c.1750C>T (p.Arg584Trp)	AMPD3 (R591W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222495	NM_001025389.2(AMPD3):c.1510A>C (p.Thr504Pro)	AMPD3 (T345P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213494	NM_001025389.2(AMPD3):c.395G>A (p.Arg132Gln)	AMPD3 (R141Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801732	NM_001025389.2(AMPD3):c.2101G>A (p.Val701Met)	AMPD3 (V542M +3 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1319361	NM_001025389.2(AMPD3):c.-157T>C	AMPD3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1319360	NM_001025389.2(AMPD3):c.1557+834G>A	AMPD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 880295	NM_001025389.2(AMPD3):c.1982C>T (p.Ser661Phe)	AMPD3 (S502F +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880294	NM_001025389.2(AMPD3):c.1891A>C (p.Met631Leu)	AMPD3 (M638L +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880293	NM_001025389.2(AMPD3):c.1771G>A (p.Gly591Ser)	AMPD3 (G598S +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880292	NM_001025389.2(AMPD3):c.1739C>T (p.Thr580Met)	AMPD3 (T580M +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880291	NM_001025389.2(AMPD3):c.1729G>A (p.Gly577Ser)	AMPD3 (G584S +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency +1 more	GUncertain significance
Select item 880290	NM_001025389.2(AMPD3):c.1709A>G (p.Asn570Ser)	AMPD3 (N570S +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880232	NM_001025389.2(AMPD3):c.1066C>T (p.Arg356Trp)	AMPD3 (R197W +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880231	NM_001025389.2(AMPD3):c.991C>T (p.Arg331Cys)	AMPD3 (R172C +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880230	NM_001025389.2(AMPD3):c.974A>G (p.Asn325Ser)	AMPD3 (N334S +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880187	NM_001025389.2(AMPD3):c.110C>T (p.Ala37Val)	AMPD3 (A37V +2 more)	Single nucleotide variant (missense variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880186	NM_001025389.2(AMPD3):c.81A>C (p.Lys27Asn)	AMPD3 (K34N +2 more)	Single nucleotide variant (missense variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880185	NM_001025389.2(AMPD3):c.56T>C (p.Leu19Pro)	AMPD3 (L26P +2 more)	Single nucleotide variant (missense variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880184	NM_001025389.2(AMPD3):c.7C>T (p.Arg3Trp)	AMPD3 (R12W +2 more)	Single nucleotide variant (missense variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880183	NM_001025389.2(AMPD3):c.-9G>A	AMPD3	Single nucleotide variant (5 prime UTR variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 880182	NM_001025389.2(AMPD3):c.-25C>T	AMPD3	Single nucleotide variant (5 prime UTR variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 879119	NM_001025389.2(AMPD3):c.*1520A>G	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 879118	NM_001025389.2(AMPD3):c.*1381C>T	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 879117	NM_001025389.2(AMPD3):c.*1245G>A	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 879116	NM_001025389.2(AMPD3):c.*1221T>C	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 879069	NM_001025389.2(AMPD3):c.1674C>T (p.Tyr558=)	AMPD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 879068	NM_001025389.2(AMPD3):c.1614C>T (p.Ser538=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 879067	NM_001025389.2(AMPD3):c.1569T>G (p.Phe523Leu)	AMPD3 (F364L +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 879066	NM_001025389.2(AMPD3):c.1549C>G (p.Leu517Val)	AMPD3 (L358V +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 879018	NM_001025389.2(AMPD3):c.939+13C>T	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 879017	NM_001025389.2(AMPD3):c.931G>A (p.Val311Met)	AMPD3 (V152M +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 879016	NM_001025389.2(AMPD3):c.836A>G (p.Asn279Ser)	AMPD3 (N286S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 879015	NM_001025389.2(AMPD3):c.702C>T (p.Asn234=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 878960	NM_001025389.2(AMPD3):c.-116A>C	AMPD3	Single nucleotide variant (5 prime UTR variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 878532	NM_001025389.2(AMPD3):c.*771C>T	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 878531	NM_001025389.2(AMPD3):c.*603G>A	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 878486	NM_001025389.2(AMPD3):c.1496C>T (p.Pro499Leu)	AMPD3 (P340L +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 878485	NM_001025389.2(AMPD3):c.1317G>T (p.Arg439=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 878484	NM_001025389.2(AMPD3):c.1304A>G (p.Tyr435Cys)	AMPD3 (Y435C +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 878483	NM_001025389.2(AMPD3):c.1276C>T (p.Arg426Trp)	AMPD3 (R267W +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 878423	NM_001025389.2(AMPD3):c.498G>A (p.Ala166=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 878422	NM_001025389.2(AMPD3):c.459G>A (p.Lys153=)	AMPD3	Single nucleotide variant (synonymous variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 878369	NM_001025389.1(AMPD3):c.-263T>C	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 877510	NM_001025389.2(AMPD3):c.*327G>C	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 877509	NM_001025389.2(AMPD3):c.*75C>T	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency +1 more	GUncertain significance
Select item 877508	NM_001025389.2(AMPD3):c.2267C>G (p.Ala756Gly)	AMPD3 (A756G +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 877507	NM_001025389.2(AMPD3):c.2118C>T (p.Leu706=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 877506	NM_001025389.2(AMPD3):c.2101G>T (p.Val701Leu)	AMPD3 (V708L +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 877465	NM_001025389.2(AMPD3):c.1135-5C>T	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 877464	NM_001025389.2(AMPD3):c.1135-6C>G	AMPD3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 877463	NM_001025389.2(AMPD3):c.1090A>G (p.Met364Val)	AMPD3 (M371V +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 877403	NM_001025389.2(AMPD3):c.427-13C>T	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance

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