Related gene-specific medical variations for Gene (Select 270) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247663	NC_000001.10:g.(?_115215735)_(115218644_?)del	AMPD1	Deletion	Muscle AMP deaminase deficiency	GUncertain significance
Select item 3247662	NC_000001.10:g.(?_115231162)_(115238191_?)del	AMPD1	Deletion	Muscle AMP deaminase deficiency	GPathogenic
Select item 2439031	NM_000036.3(AMPD1):c.1619C>G (p.Ser540Cys)	AMPD1 (S536C +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2439030	NM_000036.3(AMPD1):c.640G>T (p.Val214Leu)	AMPD1 (V210L +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2439029	NM_000036.3(AMPD1):c.942T>A (p.His314Gln)	AMPD1 (H310Q +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2439028	NM_000036.3(AMPD1):c.35-2A>G	AMPD1	Single nucleotide variant (splice acceptor variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2439027	NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)	AMPD1 (L684S +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2439026	NM_000036.3(AMPD1):c.988G>A (p.Val330Met)	AMPD1 (V326M +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2439025	NM_000036.3(AMPD1):c.810G>A (p.Lys270=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2439024	NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn)	AMPD1 (I640N +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2439023	NM_000036.3(AMPD1):c.587G>A (p.Arg196Gln)	AMPD1 (R192Q +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2439019	NM_000036.3(AMPD1):c.304T>C (p.Tyr102His)	AMPD1 (Y102H +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2439018	NM_000036.3(AMPD1):c.124G>A (p.Asp42Asn)	AMPD1 (D38N +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance