"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LDHA"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 +2 more	GBenign
Select item 558833	NM_005566.4(LDHA):c.435C>T (p.Tyr145=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	GLikely benign
Select item 558834	NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)	LDHA (A147S +2 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +1 more	GConflicting classifications of pathogenicity
Select item 303914	NM_005566.4(LDHA):c.483C>T (p.Ser161=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +2 more	GBenign
Select item 303915	NM_005566.4(LDHA):c.519A>G (p.Leu173=)	LDHA	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency +2 more	GBenign
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 558836	NM_005566.4(LDHA):c.592+30T>A	LDHA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381424	NM_005566.4(LDHA):c.608G>C (p.Gly203Ala)	LDHA (G203A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 558842	NM_005566.4(LDHA):c.835-15dup	LDHA	Duplication (intron variant)	not provided	GBenign
Select item 558840	NM_005566.4(LDHA):c.835-16_835-15dup	LDHA	Duplication (intron variant)	not provided	GBenign
Select item 558839	NM_005566.4(LDHA):c.835-17_835-15dup	LDHA	Duplication (intron variant)	not provided	GBenign
Select item 558838	NM_005566.4(LDHA):c.835-18_835-15dup	LDHA	Duplication (intron variant)	not provided	GBenign
Select item 558837	NM_005566.4(LDHA):c.835-19_835-15dup	LDHA	Duplication (intron variant)	not provided	GLikely benign
Select item 558841	NM_005566.4(LDHA):c.835-15del	LDHA	Deletion (intron variant)	not provided	GLikely benign