ClinVar for MedGen (Select 904073) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429373	NM_145199.3(LIPT1):c.578T>C (p.Leu193Pro)	LIPT1, MITD1 (L193P)	Single nucleotide variant (missense variant +1 more)	Lipoyl transferase 1 deficiency	GUncertain significance
Select item 1802992	NM_145199.3(LIPT1):c.316G>A (p.Val106Ile)	LIPT1, MITD1 (V106I)	Single nucleotide variant (missense variant +1 more)	Lipoyl transferase 1 deficiency +1 more	GUncertain significance
Select item 1399147	NM_145199.3(LIPT1):c.587C>T (p.Pro196Leu)	LIPT1, MITD1 (P196L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 973443	NM_145199.3(LIPT1):c.539T>C (p.Leu180Ser)	LIPT1, MITD1 (L180S)	Single nucleotide variant (missense variant +1 more)	Lipoyl transferase 1 deficiency	GUncertain significance
Select item 433560	NM_015929.3(LIPT1):c.[131A>G];[875C>G]			Lipoyl transferase 1 deficiency	GPathogenic
Select item 433559	NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser)	LIPT1, MITD1 (N44S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 424785	NM_145199.2(LIPT1):c.[806G>A];[980T>G]			Lipoyl transferase 1 deficiency	GPathogenic
Select item 420362	NM_145199.3(LIPT1):c.369del (p.Lys123fs)	LIPT1, MITD1 (K123fs)	Deletion (frameshift variant +1 more)	Hypotonia +7 more	GConflicting classifications of pathogenicity
Select item 379992	NM_145199.3(LIPT1):c.711T>C (p.Ala237=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	Lipoyl transferase 1 deficiency +2 more	GBenign
Select item 379991	NM_145199.3(LIPT1):c.565T>C (p.Leu189=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 285871	NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)	LIPT1, MITD1 (S292*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 242526	NM_145199.3(LIPT1):c.806G>A (p.Trp269Ter)	LIPT1, MITD1 (W269*)	Single nucleotide variant (nonsense +1 more)	Lipoyl transferase 1 deficiency	GLikely pathogenic
Select item 189836	NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly)	MITD1, LIPT1 (R98G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 189835	NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe)	LIPT1, MITD1 (S71F)	Single nucleotide variant (missense variant +1 more)	Lipoyl transferase 1 deficiency +1 more	GLikely pathogenic
Select item 189834	NM_145199.3(LIPT1):c.535A>G (p.Thr179Ala)	LIPT1, MITD1 (T179A)	Single nucleotide variant (missense variant +1 more)	Lipoyl transferase 1 deficiency	GPathogenic