AMPD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 302137	NM_001025389.1(AMPD3):c.-312A>G	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	GBenign
Select item 302138	NM_001025389.1(AMPD3):c.-303C>T	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	GBenign
Select item 878369	NM_001025389.1(AMPD3):c.-263T>C	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 302139	NM_001025389.1(AMPD3):c.-240A>G	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 302140	NM_001025389.1(AMPD3):c.-239G>C	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	GBenign
Select item 302141	NM_001025389.1(AMPD3):c.-200G>A	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
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 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 302142	NM_001025389.2(AMPD3):c.-103T>C	AMPD3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 302143	NM_001025389.2(AMPD3):c.-88G>T	AMPD3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 302144	NM_001025389.2(AMPD3):c.-82T>G	AMPD3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 302145	NM_001025389.2(AMPD3):c.-48_-43del	AMPD3	Deletion (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 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 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 302146	NM_001025389.2(AMPD3):c.-5-6T>G	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	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 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 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 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 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 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 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 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 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 93470	NM_001025389.2(AMPD3):c.222-17T>C	AMPD3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 302147	NM_001025389.2(AMPD3):c.271C>T (p.Pro91Ser)	AMPD3 (P91S +2 more)	Single nucleotide variant (missense variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 302148	NM_001025389.2(AMPD3):c.283G>A (p.Asp95Asn)	AMPD3 (D104N +2 more)	Single nucleotide variant (missense variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 302149	NM_001025389.2(AMPD3):c.325A>G (p.Thr109Ala)	AMPD3 (T109A +2 more)	Single nucleotide variant (missense variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 302150	NM_001025389.2(AMPD3):c.353C>T (p.Ser118Phe)	AMPD3 (S118F +2 more)	Single nucleotide variant (missense variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 302151	NM_001025389.2(AMPD3):c.362C>T (p.Thr121Met)	AMPD3 (T121M +2 more)	Single nucleotide variant (missense variant +1 more)	Erythrocyte AMP deaminase deficiency	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 302152	NM_001025389.2(AMPD3):c.408C>T (p.Ser136=)	AMPD3	Single nucleotide variant (synonymous variant +1 more)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 302153	NM_001025389.2(AMPD3):c.423C>T (p.Ala141=)	AMPD3	Single nucleotide variant (synonymous variant +1 more)	Erythrocyte AMP deaminase deficiency +1 more	GUncertain significance
Select item 302154	NM_001025389.2(AMPD3):c.426+8G>A	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 877403	NM_001025389.2(AMPD3):c.427-13C>T	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	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 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 302155	NM_001025389.2(AMPD3):c.460A>G (p.Ser154Gly)	AMPD3 (S154G +2 more)	Single nucleotide variant (missense variant +1 more)	Erythrocyte AMP deaminase deficiency	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 302156	NM_001025389.2(AMPD3):c.485G>A (p.Arg162Gln)	AMPD3 (R162Q +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	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 302157	NM_001025389.2(AMPD3):c.500G>T (p.Arg167Leu)	AMPD3 (R176L +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	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 302158	NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp)	AMPD3 (R194W +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency +2 more	GBenign/Likely benign
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 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 93471	NM_001025389.2(AMPD3):c.573G>A (p.Pro191=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency +2 more	GBenign
Select item 750159	NM_001025389.2(AMPD3):c.597C>T (p.His199=)	AMPD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 302159	NM_001025389.2(AMPD3):c.600T>G (p.Pro200=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 302160	NM_001025389.2(AMPD3):c.669C>T (p.His223=)	AMPD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 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 3050742	NM_001025389.2(AMPD3):c.816C>T (p.Thr272=)	AMPD3	Single nucleotide variant (synonymous variant)	AMPD3-related disorder	GLikely benign
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 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 3058715	NM_001025389.2(AMPD3):c.876C>T (p.Asn292=)	AMPD3	Single nucleotide variant (synonymous variant)	AMPD3-related disorder	GLikely benign
Select item 302161	NM_001025389.2(AMPD3):c.885C>T (p.Ser295=)	AMPD3	Single nucleotide variant (synonymous 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 166685	NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu)	AMPD3 (V311L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 302162	NM_001025389.2(AMPD3):c.960G>A (p.Ala320=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency +1 more	GBenign/Likely benign
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 302163	NM_001025389.2(AMPD3):c.981G>T (p.Lys327Asn)	AMPD3 (K327N +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 198445	NM_001025389.2(AMPD3):c.1016C>T (p.Thr339Met)	AMPD3 (T348M +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	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 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 787375	NM_001025389.2(AMPD3):c.1067G>A (p.Arg356Gln)	AMPD3 (R356Q +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 302164	NM_001025389.2(AMPD3):c.1080C>T (p.Asp360=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 776586	NM_001025389.2(AMPD3):c.1081G>A (p.Gly361Ser)	AMPD3 (G368S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 302165	NM_001025389.2(AMPD3):c.1087C>T (p.His363Tyr)	AMPD3 (H372Y +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	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 302166	NM_001025389.2(AMPD3):c.1131C>T (p.His377=)	AMPD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 877464	NM_001025389.2(AMPD3):c.1135-6C>G	AMPD3	Single nucleotide variant (intron variant)	not provided +1 more	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 198759	NM_001025389.2(AMPD3):c.1135-5C>A	AMPD3	Single nucleotide variant (intron variant)	not provided +1 more	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 302167	NM_001025389.2(AMPD3):c.1258A>G (p.Met420Val)	AMPD3 (M429V +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency +1 more	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 302168	NM_001025389.2(AMPD3):c.1267-13C>A	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 302169	NM_001025389.2(AMPD3):c.1267-3C>T	AMPD3	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 878483	NM_001025389.2(AMPD3):c.1276C>T (p.Arg426Trp)	AMPD3 (R267W +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency +1 more	GUncertain significance
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 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 878485	NM_001025389.2(AMPD3):c.1317G>T (p.Arg439=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency	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 768426	NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His)	AMPD3 (Y455H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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 302170	NM_001025389.2(AMPD3):c.1388A>T (p.Tyr463Phe)	AMPD3 (Y472F +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	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 3053536	NM_001025389.2(AMPD3):c.1431-7C>A	AMPD3	Single nucleotide variant (intron variant)	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 3350596	NM_001025389.2(AMPD3):c.1434C>T (p.Asp478=)	AMPD3	Single nucleotide variant (synonymous variant)	AMPD3-related disorder	GLikely benign
Select item 193613	NM_001025389.2(AMPD3):c.1445C>T (p.Ser482Leu)	AMPD3 (S491L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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