"GeneDx"[submitter] AND "AMPD1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 992300	NM_000036.3(AMPD1):c.2113T>C (p.Tyr705His)	AMPD1 (Y705H +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +2 more	GUncertain significance
Select item 1207113	NM_000036.3(AMPD1):c.1974+1G>A	AMPD1	Single nucleotide variant (splice donor variant)	Muscle AMP deaminase deficiency +2 more	GUncertain significance
Select item 1264107	NM_000036.3(AMPD1):c.1801-183G>A	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270931	NM_000036.3(AMPD1):c.1801-188C>A	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259806	NM_000036.3(AMPD1):c.1801-266G>A	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559257	NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe)	AMPD1 (L631F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 286655	NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu)	AMPD1 (G607E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1233588	NM_000036.3(AMPD1):c.1680-234C>G	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388629	NM_000036.3(AMPD1):c.1625C>T (p.Thr542Ile)	AMPD1 (T575I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230518	NM_000036.3(AMPD1):c.1515+85C>T	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245099	NM_000036.3(AMPD1):c.1389-157T>C	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295053	NM_000036.3(AMPD1):c.1389-283C>T	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265653	NM_000036.3(AMPD1):c.1388+297C>T	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250181	NM_000036.3(AMPD1):c.1388+243C>T	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269379	NM_000036.3(AMPD1):c.1388+136G>C	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293073	NM_000036.3(AMPD1):c.1388+128C>T	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451200	NM_000036.3(AMPD1):c.1365G>A (p.Trp455Ter)	AMPD1 (W488* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1236963	NM_000036.3(AMPD1):c.1224+59AGGA[16]	AMPD1	Microsatellite (intron variant)	not provided	GBenign
Select item 1182767	NM_000036.3(AMPD1):c.1224+59AGGA[14]	AMPD1	Microsatellite (intron variant)	not provided	GBenign
Select item 1257001	NM_000036.3(AMPD1):c.1224+59AGGA[10]	AMPD1	Microsatellite (intron variant)	not provided	GBenign
Select item 1244985	NM_000036.3(AMPD1):c.1224+59AGGA[12]	AMPD1	Microsatellite (intron variant)	not provided	GBenign
Select item 1242129	NM_000036.3(AMPD1):c.1224+59AGGA[11]	AMPD1	Microsatellite (intron variant)	not provided	GBenign
Select item 92331	NM_000036.3(AMPD1):c.1224+8G>A	AMPD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 18272	NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)	AMPD1 (R421W +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 92330	NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)	AMPD1 (M343I +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1238779	NM_000036.3(AMPD1):c.898-188T>A	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265142	NM_000036.3(AMPD1):c.897+31C>G	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292879	NM_000036.3(AMPD1):c.768-105C>T	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224781	NM_000036.3(AMPD1):c.768-149C>T	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293067	NM_000036.3(AMPD1):c.548-57T>A	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244301	NM_000036.3(AMPD1):c.548-214G>A	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174253	NM_000036.3(AMPD1):c.548-215C>T	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292467	NM_000036.3(AMPD1):c.547+169A>G	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559258	NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp)	AMPD1 (G204D +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 197620	NM_000036.3(AMPD1):c.468G>T (p.Gln156His)	AMPD1 (Q189H +2 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1309342	NM_000036.3(AMPD1):c.440G>A (p.Arg147His)	AMPD1 (R143H +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +1 more	GUncertain significance
Select item 1266966	NM_000036.3(AMPD1):c.381+205A>G	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 747527	NM_000036.3(AMPD1):c.381+1G>C	AMPD1	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 197097	NM_000036.3(AMPD1):c.334G>A (p.Val112Met)	AMPD1 (V145M +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1326503	NM_000036.3(AMPD1):c.216-9C>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency +1 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)	not provided +1 more	GConflicting classifications of pathogenicity; other
Select item 1227916	NM_000036.3(AMPD1):c.34+276T>C	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293285	NM_000036.3(AMPD1):c.34+152T>C	AMPD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 18271	NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)	AMPD1 (Q45*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity; other
Select item 1289593	NM_000036.3(AMPD1):c.22+40dup	AMPD1	Duplication (intron variant)	not provided	GBenign
Select item 1241088	NM_000036.3(AMPD1):c.22+54del	AMPD1	Deletion (intron variant)	not provided	GBenign
Select item 1266649	NC_000001.11:g.114695941_114695954dup	AMPD1	Duplication	not provided	GBenign

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Items: 48