"Illumina Laboratory Services, Illumina"[submitter] AND "AMPD3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 (intron variant +1 more)	Erythrocyte AMP deaminase deficiency	GBenign
Select item 302143	NM_001025389.2(AMPD3):c.-88G>T	AMPD3	Single nucleotide variant (intron variant +1 more)	Erythrocyte AMP deaminase deficiency	GBenign
Select item 302144	NM_001025389.2(AMPD3):c.-82T>G	AMPD3	Single nucleotide variant (intron variant +1 more)	Erythrocyte AMP deaminase deficiency	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 302146	NM_001025389.2(AMPD3):c.-5-6T>G	AMPD3	Single nucleotide variant (intron variant)	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 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 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 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 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)	AMPD3-related condition +1 more	GConflicting classifications of pathogenicity
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 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	GUncertain significance
Select item 302154	NM_001025389.2(AMPD3):c.426+8G>A	AMPD3	Single nucleotide variant (intron variant)	not provided +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 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 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 302158	NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp)	AMPD3 (R194W +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 93471	NM_001025389.2(AMPD3):c.573G>A (p.Pro191=)	AMPD3	Single nucleotide variant (synonymous variant)	AMPD3-related condition +2 more	GBenign
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)	AMPD3-related condition +2 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 879016	NM_001025389.2(AMPD3):c.836A>G (p.Asn279Ser)	AMPD3 (N286S +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
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)	AMPD3-related condition +3 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)	not provided +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 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 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)	Erythrocyte AMP deaminase deficiency +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 877464	NM_001025389.2(AMPD3):c.1135-6C>G	AMPD3	Single nucleotide variant (intron 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 198759	NM_001025389.2(AMPD3):c.1135-5C>A	AMPD3	Single nucleotide variant (intron variant)	not provided +1 more	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	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)	AMPD3-related condition +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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
Select item 302171	NM_001025389.2(AMPD3):c.1452G>A (p.Lys484=)	AMPD3	Single nucleotide variant (synonymous 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 302172	NM_001025389.2(AMPD3):c.1513A>G (p.Ile505Val)	AMPD3 (I514V +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency +1 more	GUncertain significance
Select item 302173	NM_001025389.2(AMPD3):c.1516A>G (p.Asn506Asp)	AMPD3 (N506D +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 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 302174	NM_001025389.2(AMPD3):c.1600G>A (p.Asp534Asn)	AMPD3 (D534N +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
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 879069	NM_001025389.2(AMPD3):c.1674C>T (p.Tyr558=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency	GLikely benign
Select item 302175	NM_001025389.2(AMPD3):c.1689T>C (p.Tyr563=)	AMPD3	Single nucleotide variant (synonymous variant)	AMPD3-related condition +2 more	GBenign
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 18270	NM_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys)	AMPD3 (R573C +3 more)	Single nucleotide variant (missense variant)	AMPD3-related condition +1 more	GPathogenic/Likely pathogenic
Select item 302176	NM_001025389.2(AMPD3):c.1728C>T (p.Arg576=)	AMPD3	Single nucleotide variant (synonymous 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)	not specified +1 more	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 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 194013	NM_001025389.2(AMPD3):c.1824C>T (p.His608=)	AMPD3	Single nucleotide variant (synonymous variant)	not provided +1 more	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 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 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 877507	NM_001025389.2(AMPD3):c.2118C>T (p.Leu706=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency	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 302177	NM_001025389.2(AMPD3):c.2289C>T (p.Thr763=)	AMPD3	Single nucleotide variant (synonymous 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	GUncertain significance
Select item 302178	NM_001025389.2(AMPD3):c.*121del	AMPD3	Deletion (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 302179	NM_001025389.2(AMPD3):c.*287T>C	AMPD3	Single nucleotide variant (3 prime UTR 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 302180	NM_001025389.2(AMPD3):c.*431A>G	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 302181	NM_001025389.2(AMPD3):c.*694A>G	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GBenign
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 302182	NM_001025389.2(AMPD3):c.*845A>G	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GUncertain significance
Select item 302183	NM_001025389.2(AMPD3):c.*1013GT[11]	AMPD3	Microsatellite (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GLikely benign
Select item 302184	NM_001025389.2(AMPD3):c.*1052A>G	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GBenign
Select item 302185	NM_001025389.2(AMPD3):c.*1070A>G	AMPD3	Single nucleotide variant (3 prime UTR variant)	Erythrocyte AMP deaminase deficiency	GBenign

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