LDHA[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 183158	NM_181507.2(HPS5):c.896+1823G>A	LDHA, HPS5	Single nucleotide variant (intron variant)	decreased blood alpha-hydroxyisovalerate levels	Gassociation
Select item 1178277	NC_000011.10:g.18394268C>T	LDHA	Single nucleotide variant	not provided	GBenign
Select item 303908	NM_005566.3(LDHA):c.-152dup	LDHA	Duplication	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	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 1292604	NM_005566.4(LDHA):c.-25+130A>C	LDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253811	NM_005566.4(LDHA):c.-24-783G>A	LDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217404	NM_005566.4(LDHA):c.-24-640A>T	LDHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181635	NM_005566.4(LDHA):c.-24-608G>T	LDHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 591167	NM_005566.4(LDHA):c.-24-260dup	LDHA (S5fs)	Duplication (frameshift variant +1 more)	not provided	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 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 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 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 796633	NM_005566.4(LDHA):c.39A>C (p.Leu13=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
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 2070476	NM_005566.4(LDHA):c.52A>G (p.Thr18Ala)	LDHA (T18A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 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 303909	NM_005566.4(LDHA):c.57C>T (p.Pro19=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GConflicting classifications of pathogenicity
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 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 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 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 303910	NM_005566.4(LDHA):c.126+3_126+6del	LDHA	Deletion (splice donor variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +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 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 1216145	NM_005566.4(LDHA):c.126+170A>G	LDHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683023	NM_005566.4(LDHA):c.126+204C>T	LDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199490	NM_005566.4(LDHA):c.126+213G>A	LDHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683024	NM_005566.4(LDHA):c.127-173T>A	LDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676251	NM_005566.4(LDHA):c.127-102T>G	LDHA	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 509774	NM_005566.4(LDHA):c.162C>T (p.Ile54=)	LDHA	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +1 more	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 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 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 386298	NM_005566.4(LDHA):c.183G>A (p.Glu61=)	LDHA	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 303911	NM_005566.4(LDHA):c.222A>G (p.Thr74=)	LDHA	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GConflicting classifications of pathogenicity
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 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 1292121	NM_005566.4(LDHA):c.244+142C>T	LDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239031	NM_005566.4(LDHA):c.245-266dup	LDHA	Duplication (intron variant)	not provided	GBenign
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 2260949	NM_005566.4(LDHA):c.248A>G (p.Tyr83Cys)	LDHA (Y112C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2147165	NM_005566.4(LDHA):c.269A>G (p.Lys90Arg)	LDHA (K90R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
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 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 806629	NM_005566.4(LDHA):c.284C>T (p.Thr95Met)	LDHA (T95M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 392797	NM_005566.4(LDHA):c.285G>A (p.Thr95=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +1 more	GConflicting classifications of pathogenicity
Select item 721985	NM_005566.4(LDHA):c.291G>A (p.Gly97=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 2547251	NM_005566.4(LDHA):c.296G>A (p.Arg99His)	LDHA (R128H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 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 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 2335860	NM_005566.4(LDHA):c.332A>G (p.Gln111Arg)	LDHA (Q111R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 3118217	NM_005566.4(LDHA):c.335G>A (p.Arg112His)	LDHA (R112H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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 303912	NM_005566.4(LDHA):c.348C>A (p.Ile116=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +1 more	GBenign
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 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 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 303913	NM_005566.4(LDHA):c.387G>A (p.Pro129=)	LDHA	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
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 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 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 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 1200455	NM_005566.4(LDHA):c.419-277G>C	LDHA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684191	NM_005566.4(LDHA):c.419-269A>T	LDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683025	NM_005566.4(LDHA):c.419-164G>C	LDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683091	NM_005566.4(LDHA):c.419-109A>C	LDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514133	NM_005566.4(LDHA):c.419-17T>C	LDHA	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 558833	NM_005566.4(LDHA):c.435C>T (p.Tyr145=)	LDHA	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
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 558834	NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)	LDHA (A147S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 303914	NM_005566.4(LDHA):c.483C>T (p.Ser161=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
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 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 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 2641663	NM_005566.4(LDHA):c.512G>C (p.Arg171Pro)	LDHA (R113P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 303915	NM_005566.4(LDHA):c.519A>G (p.Leu173=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 877891	NM_005566.4(LDHA):c.538G>T (p.Val180Phe)	LDHA (V209F +2 more)	Single nucleotide variant (missense variant +1 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 538660	NM_005566.4(LDHA):c.558T>C (p.His186=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 558835	NM_005566.4(LDHA):c.568C>T (p.Leu190Phe)	LDHA (L190F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 855025	NM_005566.4(LDHA):c.592+7A>G	LDHA	Single nucleotide variant (intron variant)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GUncertain significance
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

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