ClinVar for MedGen (Select 419152) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3016276	NM_005566.4(LDHA):c.942C>G (p.Ala314=)	LDHA	Single nucleotide variant (synonymous variant +3 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2962539	NM_005566.4(LDHA):c.835-8A>C	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2962537	NM_005566.4(LDHA):c.933G>A (p.Glu311=)	LDHA	Single nucleotide variant (synonymous variant +3 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2912704	NM_005566.4(LDHA):c.126+17C>T	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2903039	NM_005566.4(LDHA):c.410C>A (p.Ser137Ter)	LDHA (S137* +1 more)	Single nucleotide variant (nonsense +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GPathogenic
Select item 2886186	NM_005566.4(LDHA):c.419-16T>G	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2848332	NM_005566.4(LDHA):c.631_632dup (p.Leu211_Lys212insTer)	LDHA	Microsatellite (frameshift variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GPathogenic
Select item 2817330	NM_005566.4(LDHA):c.710+16A>T	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2783479	NM_005566.4(LDHA):c.835-14_835-11del	LDHA	Deletion (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2740151	NM_005566.4(LDHA):c.592+17T>G	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2729414	NM_005566.4(LDHA):c.593-11A>G	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2728305	NM_005566.4(LDHA):c.711-19A>G	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2705604	NM_005566.4(LDHA):c.941C>T (p.Ala314Val)	LDHA (A314V +2 more)	Single nucleotide variant (missense variant +3 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2704990	NM_005566.4(LDHA):c.768A>C (p.Val256=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2425377	NC_000011.9:g.(?_18420958)_(18428828_?)dup	LDHA	Duplication	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2425376	NC_000011.9:g.(?_18301429)_(18428828_?)dup	GTF2H1, HPS5 +1 more	Duplication	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2195924	NM_005566.4(LDHA):c.810G>A (p.Val270=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2191732	NM_005566.4(LDHA):c.386C>T (p.Pro129Leu)	LDHA (P129L +1 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2190559	NM_005566.4(LDHA):c.339C>T (p.Asn113=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2186480	NM_005566.4(LDHA):c.300G>A (p.Gln100=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2179773	NM_005566.4(LDHA):c.334C>T (p.Arg112Cys)	LDHA (R112C +1 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2178783	NM_005566.4(LDHA):c.834+20C>T	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2177743	NM_005566.4(LDHA):c.121A>G (p.Met41Val)	LDHA (M70V +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2173614	NM_005566.4(LDHA):c.843C>T (p.Tyr281=)	LDHA (T240M)	Single nucleotide variant (synonymous variant +3 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GConflicting classifications of pathogenicity
Select item 2172379	NM_005566.4(LDHA):c.7A>G (p.Thr3Ala)	LDHA (T32A +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2168048	NM_005566.4(LDHA):c.824C>T (p.Thr275Ile)	LDHA (T275I +2 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2164717	NM_005566.4(LDHA):c.711-3C>T	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2160106	NM_005566.4(LDHA):c.172T>C (p.Leu58=)	LDHA	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2160092	NM_005566.4(LDHA):c.999_*1del (p.Phe332_Ter333insTer)	LDHA (K244fs)	Deletion (frameshift variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2149404	NM_005566.4(LDHA):c.416C>T (p.Pro139Leu)	LDHA (P168L +1 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2147479	NM_005566.4(LDHA):c.445A>G (p.Lys149Glu)	LDHA (K149E +2 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2147165	NM_005566.4(LDHA):c.269A>G (p.Lys90Arg)	LDHA (K90R +1 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +2 more	GUncertain significance
Select item 2144908	NM_005566.4(LDHA):c.808G>T (p.Val270Leu)	LDHA (V212L +2 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2139970	NM_005566.4(LDHA):c.593-20G>A	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2137028	NM_005566.4(LDHA):c.505C>T (p.Arg169Ter)	LDHA (R198* +2 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GPathogenic
Select item 2137027	NM_005566.4(LDHA):c.369TGT[1] (p.Val125del)	LDHA (V125del +1 more)	Microsatellite (inframe_deletion +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2137026	NM_005566.4(LDHA):c.244G>A (p.Asp82Asn)	LDHA (D111N +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely pathogenic
Select item 2135027	NM_005566.4(LDHA):c.315C>T (p.Ser105=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2103768	NM_005566.4(LDHA):c.231T>C (p.Ile77=)	LDHA	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2102421	NM_005566.4(LDHA):c.245-11C>T	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2097402	NM_005566.4(LDHA):c.83T>C (p.Val28Ala)	LDHA (V28A +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2088609	NM_005566.4(LDHA):c.493C>A (p.Leu165Met)	LDHA (L165M +2 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2070476	NM_005566.4(LDHA):c.52A>G (p.Thr18Ala)	LDHA (T18A +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2068653	NM_005566.4(LDHA):c.943C>T (p.Arg315Cys)	LDHA (R315C +2 more)	Single nucleotide variant (missense variant +3 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2068289	NM_005566.4(LDHA):c.53C>G (p.Thr18Ser)	LDHA (T47S +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2061549	NM_005566.4(LDHA):c.126G>A (p.Lys42=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 2049994	NM_005566.4(LDHA):c.732C>T (p.Leu244=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2041735	NM_005566.4(LDHA):c.835-14C>T	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2030278	NM_005566.4(LDHA):c.273G>C (p.Leu91=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 1999947	NM_005566.4(LDHA):c.57C>G (p.Pro19=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 1985290	NM_005566.4(LDHA):c.821C>T (p.Ser274Phe)	LDHA (S216F +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1984164	NM_005566.4(LDHA):c.436G>A (p.Val146Met)	LDHA (V175M +2 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1979044	NM_005566.4(LDHA):c.484G>A (p.Gly162Ser)	LDHA (G162S +2 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1978568	NM_005566.4(LDHA):c.460C>T (p.Pro154Ser)	LDHA (P96S +2 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1977576	NM_005566.4(LDHA):c.396G>T (p.Lys132Asn)	LDHA (K132N +1 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1969308	NM_005566.4(LDHA):c.386C>G (p.Pro129Arg)	LDHA (P129R +1 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1963401	NM_005566.4(LDHA):c.340G>A (p.Val114Met)	LDHA (V143M +1 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1945135	NM_005566.4(LDHA):c.189G>A (p.Met63Ile)	LDHA (M63I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1942618	NM_005566.4(LDHA):c.861C>T (p.Val287=)	LDHA	Single nucleotide variant (synonymous variant +3 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 1938035	NM_005566.4(LDHA):c.803G>A (p.Arg268Lys)	LDHA (R210K +2 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1927297	NM_005566.4(LDHA):c.766G>A (p.Val256Ile)	LDHA (V256I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1925742	NM_005566.4(LDHA):c.126+2T>C	LDHA	Single nucleotide variant (splice donor variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely pathogenic
Select item 1924290	NM_005566.4(LDHA):c.710+5T>C	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1924262	NM_005566.4(LDHA):c.882T>C (p.Ile294=)	LDHA	Single nucleotide variant (synonymous variant +3 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 1910895	NM_005566.4(LDHA):c.762C>G (p.Leu254=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 1904312	NM_005566.4(LDHA):c.53C>T (p.Thr18Ile)	LDHA (T47I +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1903404	NM_005566.4(LDHA):c.308G>A (p.Gly103Glu)	LDHA (G103E +1 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1897415	NM_005566.4(LDHA):c.543C>T (p.His181=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 1717535	NM_005566.4(LDHA):c.280A>T (p.Ile94Phe)	LDHA (I123F +1 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1711317	NM_005566.4(LDHA):c.854A>T (p.Asp285Val)	LDHA (D227V +2 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1584083	NM_005566.4(LDHA):c.127-14T>C	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 1583523	NM_005566.4(LDHA):c.710+19T>C	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 1576176	NM_005566.4(LDHA):c.593-7C>A	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 1517920	NM_005566.4(LDHA):c.925A>C (p.Thr309Pro)	LDHA (T251P +2 more)	Single nucleotide variant (missense variant +3 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1482951	NM_005566.4(LDHA):c.117C>G (p.Ile39Met)	LDHA (I39M +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1444046	NC_000011.9:g.(?_18428644)_(18428828_?)dup	LDHA	Duplication	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1411875	NM_005566.4(LDHA):c.470G>A (p.Arg157His)	LDHA (R157H +2 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1407122	NM_005566.4(LDHA):c.170A>G (p.Lys57Arg)	LDHA (K86R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1394691	NM_005566.4(LDHA):c.833A>C (p.Lys278Thr)	LDHA (K220T +2 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1100956	NM_005566.4(LDHA):c.138T>C (p.Asp46=)	LDHA	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 1047167	NM_005566.4(LDHA):c.163G>A (p.Glu55Lys)	LDHA (E84K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1046949	NM_005566.4(LDHA):c.8C>T (p.Thr3Ile)	LDHA (T3I +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +1 more	GUncertain significance
Select item 1028398	NM_005566.4(LDHA):c.476T>A (p.Ile159Asn)	LDHA (I101N +2 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1006351	NM_005566.4(LDHA):c.944G>A (p.Arg315His)	LDHA (R257H +2 more)	Single nucleotide variant (missense variant +3 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 1006226	NM_005566.4(LDHA):c.975G>T (p.Gly325=)	LDHA (D236Y)	Single nucleotide variant (synonymous variant +3 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 976711	GRCh37/hg19 11p15.1(chr11:18418095-18422557)	LDHA	Copy number loss	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GPathogenic
Select item 938549	NM_005566.4(LDHA):c.764_765del (p.Ser255fs)	LDHA (S197fs +2 more)	Microsatellite (frameshift variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 879887	NM_005566.4(LDHA):c.*694C>T	LDHA	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 879886	NM_005566.4(LDHA):c.*666C>T	LDHA	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 879831	NM_005566.4(LDHA):c.406G>A (p.Val136Ile)	LDHA (V165I +1 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GConflicting classifications of pathogenicity
Select item 879830	NM_005566.4(LDHA):c.249T>C (p.Tyr83=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GConflicting classifications of pathogenicity
Select item 879520	NM_005566.4(LDHA):c.*604A>T	LDHA	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 879519	NM_005566.4(LDHA):c.*312G>A	LDHA	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 879476	NM_005566.4(LDHA):c.137A>T (p.Asp46Val)	LDHA (D46V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 879475	NM_005566.4(LDHA):c.47A>G (p.Glu16Gly)	LDHA (E16G +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 879474	NM_005566.4(LDHA):c.30T>C (p.Tyr10=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 879473	NM_005566.4(LDHA):c.-24-10C>G	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +1 more	GLikely benign
Select item 879472	NM_005566.4(LDHA):c.-64T>C	LDHA	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 878060	NM_005566.4(LDHA):c.*228G>A	LDHA	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
Select item 878059	NM_005566.4(LDHA):c.*129A>G	LDHA	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance

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