ClinVar for MedGen (Select 863623) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584348	NM_003051.4(SLC16A1):c.41del (p.Pro14fs)	SLC16A1 (P14fs)	Deletion (frameshift variant)	Ketoacidosis due to monocarboxylate transporter-1 deficiency	GLikely pathogenic
Select item 1570647	NM_003051.4(SLC16A1):c.362-58TATT[8]	SLC16A1	Microsatellite (intron variant)	Ketoacidosis due to monocarboxylate transporter-1 deficiency +3 more	GBenign/Likely benign
Select item 1332975	NM_003051.4(SLC16A1):c.362-21A>C	SLC16A1	Single nucleotide variant (intron variant)	Ketoacidosis due to monocarboxylate transporter-1 deficiency +3 more	GBenign
Select item 800884	NM_003051.4(SLC16A1):c.1079del (p.Ala360fs)	SLC16A1 (A360fs)	Deletion (frameshift variant)	Exercise-induced hyperinsulinism	GPathogenic
Select item 712920	NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val)	SLC16A1 (I325V)	Single nucleotide variant (missense variant)	Ketoacidosis due to monocarboxylate transporter-1 deficiency +3 more	GBenign/Likely benign
Select item 160371	NM_003051.4(SLC16A1):c.747_750del (p.Asn250fs)	SLC16A1 (N250fs)	Deletion (frameshift variant)	Ketoacidosis due to monocarboxylate transporter-1 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 160369	NM_003051.4(SLC16A1):c.41dup (p.Asp15fs)	SLC16A1 (D15fs)	Duplication (frameshift variant)	Ketoacidosis due to monocarboxylate transporter-1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 158079	NM_003051.4(SLC16A1):c.937C>T (p.Arg313Ter)	SLC16A1, SLC16A1-AS1 (R313*)	Single nucleotide variant (nonsense)	Ketoacidosis due to monocarboxylate transporter-1 deficiency +1 more	GPathogenic
Select item 130315	NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu)	SLC16A1 (D490E)	Single nucleotide variant (missense variant)	Metabolic myopathy due to lactate transporter defect +4 more	GBenign