ClinVar for MedGen (Select 811508) - 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 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 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 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 2419774	NM_000036.3(AMPD1):c.1329C>T (p.Phe443=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2419001	NM_000036.3(AMPD1):c.1515+7A>G	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2418273	NM_000036.3(AMPD1):c.215+1G>A	AMPD1	Single nucleotide variant (splice donor variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2304092	NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro)	AMPD1 (Q110P +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +1 more	GUncertain significance
Select item 2202831	NM_000036.3(AMPD1):c.2036T>C (p.Met679Thr)	AMPD1 (M675T +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2202411	NM_000036.3(AMPD1):c.716C>T (p.Thr239Ile)	AMPD1 (T235I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2196629	NM_000036.3(AMPD1):c.607A>T (p.Asn203Tyr)	AMPD1 (N199Y +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2195547	NM_000036.3(AMPD1):c.34+5G>A	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2193184	NM_000036.3(AMPD1):c.874C>T (p.Arg292Ter)	AMPD1 (R292* +1 more)	Single nucleotide variant (nonsense)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2187544	NC_000001.11:g.114695560C>T	AMPD1 (R4K)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2185455	NM_000036.3(AMPD1):c.586C>T (p.Arg196Ter)	AMPD1 (R196* +1 more)	Single nucleotide variant (nonsense)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2185447	NM_000036.3(AMPD1):c.1224+15A>G	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2184605	NM_000036.3(AMPD1):c.146T>A (p.Ile49Asn)	AMPD1 (I49N +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency +1 more	GUncertain significance
Select item 2184604	NM_000036.3(AMPD1):c.147_148insCGGACA (p.Ile49_Ser50insArgThr)	AMPD1	Insertion (inframe_insertion)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2183973	NM_000036.3(AMPD1):c.381+17C>T	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2183553	NM_000036.3(AMPD1):c.1173C>T (p.Tyr391=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2180658	NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)	AMPD1 (R720H +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2179445	NM_000036.3(AMPD1):c.520T>C (p.Trp174Arg)	AMPD1 (W170R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2177098	NM_000036.3(AMPD1):c.1242G>A (p.Leu414=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2173226	NM_000036.3(AMPD1):c.1304A>G (p.Glu435Gly)	AMPD1 (E431G +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2173089	NM_000036.3(AMPD1):c.1166A>T (p.Asp389Val)	AMPD1 (D385V +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2172904	NM_000036.3(AMPD1):c.1685G>A (p.Arg562Gln)	AMPD1 (R562Q +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2170084	NM_000036.3(AMPD1):c.2086-3T>C	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2169146	NM_000036.3(AMPD1):c.2041G>A (p.Glu681Lys)	AMPD1 (E681K +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2169136	NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln)	AMPD1 (R712Q +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2167148	NM_000036.3(AMPD1):c.1084G>A (p.Val362Ile)	AMPD1 (V358I +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2164042	NM_000036.3(AMPD1):c.1093-12T>A	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2163960	NM_000036.3(AMPD1):c.1473C>T (p.Ile491=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2158093	NM_000036.3(AMPD1):c.193T>A (p.Ser65Thr)	AMPD1 (S65T +1 more)	Single nucleotide variant (missense variant)	Muscle AMP deaminase deficiency	GUncertain significance
Select item 2157802	NM_000036.3(AMPD1):c.918A>G (p.Ala306=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2157797	NM_000036.3(AMPD1):c.768-19G>A	AMPD1	Single nucleotide variant (intron variant)	Muscle AMP deaminase deficiency	GLikely benign
Select item 2155665	NM_000036.3(AMPD1):c.381G>A (p.Gly127=)	AMPD1	Single nucleotide variant (synonymous variant)	Muscle AMP deaminase deficiency	GUncertain significance

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