"PreventionGenetics, part of Exact Sciences"[submitter] AND "AMPD3"[ge - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 +1 more	GConflicting classifications of pathogenicity
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 302160	NM_001025389.2(AMPD3):c.669C>T (p.His223=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency +2 more	GBenign/Likely 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 3058715	NM_001025389.2(AMPD3):c.876C>T (p.Asn292=)	AMPD3	Single nucleotide variant (synonymous variant)	AMPD3-related disorder	GLikely benign
Select item 166685	NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu)	AMPD3 (V311L +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3045848	NM_001025389.2(AMPD3):c.1135-6C>A	AMPD3	Single nucleotide variant (intron variant)	AMPD3-related disorder	GLikely benign
Select item 302169	NM_001025389.2(AMPD3):c.1267-3C>T	AMPD3	Single nucleotide variant (intron variant)	Erythrocyte AMP deaminase deficiency +1 more	GConflicting classifications of pathogenicity
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 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 302175	NM_001025389.2(AMPD3):c.1689T>C (p.Tyr563=)	AMPD3	Single nucleotide variant (synonymous variant)	Erythrocyte AMP deaminase deficiency +2 more	GBenign
Select item 18270	NM_001025389.2(AMPD3):c.1717C>T (p.Arg573Cys)	AMPD3 (R573C +3 more)	Single nucleotide variant (missense variant)	Erythrocyte AMP deaminase deficiency +1 more	GPathogenic/Likely pathogenic