"PreventionGenetics, part of Exact Sciences"[submitter] AND "AMPD1"[ge - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1207113	NM_000036.3(AMPD1):c.1974+1G>A	AMPD1	Single nucleotide variant (splice donor variant)	AMPD1-related disorder +3 more	GUncertain significance
Select item 291929	NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr)	AMPD1 (S557T +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3023064	NM_000036.3(AMPD1):c.1388+8C>A	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency +1 more	GLikely benign
Select item 1632772	NM_000036.3(AMPD1):c.1236G>A (p.Ala412=)	AMPD1	Single nucleotide variant (synonymous variant)	AMPD1-related disorder +1 more	GLikely benign
Select item 1540939	NM_000036.3(AMPD1):c.864C>T (p.Asn288=)	AMPD1	Single nucleotide variant (synonymous variant)	AMPD1-related disorder +1 more	GLikely benign
Select item 92338	NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)	AMPD1 (K320I +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1475942	NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys)	AMPD1 (R259C +1 more)	Single nucleotide variant (missense variant)	AMPD1-related disorder +2 more	GUncertain significance
Select item 197097	NM_000036.3(AMPD1):c.334G>A (p.Val112Met)	AMPD1 (V145M +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 791725	NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp)	AMPD1 (R112W +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 166684	NM_000036.3(AMPD1):c.224G>A (p.Arg75His)	AMPD1 (R108H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1326503	NM_000036.3(AMPD1):c.216-9C>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1579696	NM_000036.3(AMPD1):c.174A>T (p.Ile58=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency +1 more	GLikely benign
Select item 290874	NM_000036.3(AMPD1):c.144G>A (p.Pro48=)	AMPD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 50897	NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu)	AMPD1 (P81L +1 more)	Single nucleotide variant (missense variant)	AMPD1-related disorder +2 more	GConflicting classifications of pathogenicity; other
Select item 18271	NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)	AMPD1 (Q45*)	Single nucleotide variant (nonsense +1 more)	AMPD1-related disorder +3 more	GConflicting classifications of pathogenicity; other
Select item 3031228	NM_000036.3(AMPD1):c.22+7G>A	AMPD1	Single nucleotide variant (intron variant)	AMPD1-related disorder	GLikely benign