ClinVar for Gene (Select 270) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376351	NM_000036.3(AMPD1):c.890G>A (p.Cys297Tyr)	AMPD1 (C293Y +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 3336535	NM_000036.3(AMPD1):c.133G>T (p.Glu45Ter)	AMPD1 (E41* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3293315	NM_000036.3(AMPD1):c.1024A>G (p.Lys342Glu)	AMPD1 (K338E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247867	NC_000001.10:g.(?_115215735)_(115258781_?)dup	AMPD1, NRAS	Duplication	RASopathy	GUncertain significance
Select item 3247866	NC_000001.10:g.(?_114437687)_(115576848_?)del	AP4B1, AMPD1 +12 more	Deletion	RASopathy	GUncertain significance
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 3116681	NM_000036.3(AMPD1):c.-6G>A	AMPD1	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3116661	NM_000036.3(AMPD1):c.691C>T (p.Pro231Ser)	AMPD1 (P227S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116653	NM_000036.3(AMPD1):c.670G>A (p.Val224Ile)	AMPD1 (V224I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116644	NM_000036.3(AMPD1):c.529A>T (p.Asn177Tyr)	AMPD1 (N173Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116605	NM_000036.3(AMPD1):c.2185T>G (p.Tyr729Asp)	AMPD1 (Y729D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116591	NM_000036.3(AMPD1):c.2026A>G (p.Thr676Ala)	AMPD1 (T676A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063620	NC_000001.10:g.(?_115215718)_(115220663_115220953)del	AMPD1	Deletion	not specified	GUncertain significance
Select item 3031228	NM_000036.3(AMPD1):c.22+7G>A	AMPD1	Single nucleotide variant (intron variant)	AMPD1-related disorder	GLikely benign
Select item 3023064	NM_000036.3(AMPD1):c.1388+8C>A	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 3021706	NM_000036.3(AMPD1):c.2106C>A (p.Gly702=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 3017068	NM_000036.3(AMPD1):c.301G>T (p.Glu101Ter)	AMPD1 (E101* +1 more)	Single nucleotide variant (nonsense)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 3012717	NM_000036.3(AMPD1):c.1516-14A>G	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 3012619	NM_000036.3(AMPD1):c.1388+14C>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 3012327	NM_000036.3(AMPD1):c.34+19T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 3011471	NM_000036.3(AMPD1):c.1975-18C>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2998762	NM_000036.3(AMPD1):c.120C>G (p.Pro40=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2998134	NM_000036.3(AMPD1):c.35-16T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2994112	NM_000036.3(AMPD1):c.951T>C (p.Arg317=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2985152	NM_000036.3(AMPD1):c.1389-13T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2972998	NM_000036.3(AMPD1):c.306C>T (p.Tyr102=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2969877	NM_000036.3(AMPD1):c.1782T>C (p.His594=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2969865	NM_000036.3(AMPD1):c.2040C>T (p.Cys680=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2963358	NM_000036.3(AMPD1):c.2126G>A (p.Gly709Asp)	AMPD1 (G705D +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2912742	NM_000036.3(AMPD1):c.1662G>A (p.Val554=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2909936	NM_000036.3(AMPD1):c.589A>G (p.Thr197Ala)	AMPD1 (T193A +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2906943	NM_000036.3(AMPD1):c.922G>A (p.Ala308Thr)	AMPD1 (A304T +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2903960	NM_000036.3(AMPD1):c.461C>T (p.Ser154Leu)	AMPD1 (S154L +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2901187	NM_000036.3(AMPD1):c.767+12del	AMPD1	Deletion (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2899587	NM_000036.3(AMPD1):c.1019C>T (p.Thr340Ile)	AMPD1 (T336I +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2882056	NM_000036.3(AMPD1):c.480A>G (p.Lys160=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2878560	NM_000036.3(AMPD1):c.1603T>C (p.Leu535=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2868988	NM_000036.3(AMPD1):c.345T>C (p.Phe115=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2851029	NM_000036.3(AMPD1):c.1391A>G (p.Asp464Gly)	AMPD1 (D464G +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2837193	NM_000036.3(AMPD1):c.1389-15C>A	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2825490	NM_000036.3(AMPD1):c.1886A>G (p.Tyr629Cys)	AMPD1 (Y625C +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2818186	NM_000036.3(AMPD1):c.547+15A>G	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2815353	NM_000036.3(AMPD1):c.897+16G>A	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2804688	NM_000036.3(AMPD1):c.897+19C>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2795359	NM_000036.3(AMPD1):c.117C>T (p.Ser39=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2775533	NM_000036.3(AMPD1):c.933C>G (p.Asn311Lys)	AMPD1 (N311K +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2762986	NM_000036.3(AMPD1):c.547+13T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2761699	NM_000036.3(AMPD1):c.428C>A (p.Ala143Glu)	AMPD1 (A139E +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2749430	NM_000036.3(AMPD1):c.1389-5T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2747894	NM_000036.3(AMPD1):c.547+16del	AMPD1	Deletion (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2746107	NM_000036.3(AMPD1):c.1529A>G (p.Asp510Gly)	AMPD1 (D506G +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2743333	NM_000036.3(AMPD1):c.137T>G (p.Ile46Ser)	AMPD1 (I42S +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2741002	NM_000036.3(AMPD1):c.1225-13C>A	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2737577	NM_000036.3(AMPD1):c.1517T>C (p.Ile506Thr)	AMPD1 (I506T +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2733309	NM_000036.3(AMPD1):c.1093-5T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2729627	NM_000036.3(AMPD1):c.255C>T (p.Ser85=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2727648	NM_000036.3(AMPD1):c.898-18C>A	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2725728	NM_000036.3(AMPD1):c.1093-12T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2725226	NM_000036.3(AMPD1):c.1800+12G>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2723464	NM_000036.3(AMPD1):c.898-9T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2722745	NM_000036.3(AMPD1):c.1974+7T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2721806	NM_000036.3(AMPD1):c.1383G>A (p.Arg461=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2712275	NM_000036.3(AMPD1):c.-42C>T	AMPD1	Single nucleotide variant (5 prime UTR variant)	Muscle AMP deaminase deficiency +1 more	GUncertain significance
Select item 2707123	NM_000036.3(AMPD1):c.726C>T (p.Asp242=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2698794	NM_000036.3(AMPD1):c.381+7T>A	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2693319	NM_000036.3(AMPD1):c.791T>C (p.Leu264Pro)	AMPD1 (L260P +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2639006	NM_000036.3(AMPD1):c.946C>T (p.Leu316=)	AMPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610236	NM_000036.3(AMPD1):c.2150G>A (p.Arg717Lys)	AMPD1 (R713K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2601155	NM_000036.3(AMPD1):c.297T>G (p.Ile99Met)	AMPD1 (I99M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556132	NM_000036.3(AMPD1):c.1050G>T (p.Met350Ile)	AMPD1 (M350I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542652	NM_000036.3(AMPD1):c.349A>G (p.Arg117Gly)	AMPD1 (R113G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539576	NM_000036.3(AMPD1):c.1492G>C (p.Glu498Gln)	AMPD1 (E498Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533791	NM_000036.3(AMPD1):c.466C>A (p.Gln156Lys)	AMPD1 (Q152K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533790	NM_000036.3(AMPD1):c.465T>A (p.Phe155Leu)	AMPD1 (F151L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517802	NM_000036.3(AMPD1):c.638G>A (p.Gly213Asp)	AMPD1 (G209D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498412	NM_000036.3(AMPD1):c.1875A>G (p.Leu625=)	AMPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2489684	NM_000036.3(AMPD1):c.280A>G (p.Thr94Ala)	AMPD1 (T94A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483745	NM_000036.3(AMPD1):c.260C>T (p.Pro87Leu)	AMPD1 (P87L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481675	NM_000036.3(AMPD1):c.1946A>G (p.Asp649Gly)	AMPD1 (D649G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479285	NM_000036.3(AMPD1):c.637G>T (p.Gly213Cys)	AMPD1 (G213C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478116	NM_000036.3(AMPD1):c.1469C>A (p.Thr490Asn)	AMPD1 (T486N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473292	NM_000036.3(AMPD1):c.2122G>A (p.Glu708Lys)	AMPD1 (E704K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462542	NM_000036.3(AMPD1):c.1732G>A (p.Ala578Thr)	AMPD1 (A578T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2439021	NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)	AMPD1 (T254S +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2439020	NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)	AMPD1 (R558* +1 more)	Single nucleotide variant (nonsense)	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
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance

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