"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LIPT1"[ - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1529592	NM_145199.3(LIPT1):c.1A>T (p.Met1Leu)	LIPT1, MITD1 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 719168	NM_145199.3(LIPT1):c.57C>T (p.Val19=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 452463	NM_145199.3(LIPT1):c.79dup (p.Thr27fs)	LIPT1, MITD1 (T27fs)	Duplication (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2697816	NM_145199.3(LIPT1):c.109A>G (p.Ile37Val)	LIPT1, MITD1 (I37V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1482113	NM_145199.3(LIPT1):c.121G>A (p.Val41Ile)	LIPT1, MITD1 (V41I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2190959	NM_145199.3(LIPT1):c.140T>C (p.Val47Ala)	LIPT1, MITD1 (V47A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2919534	NM_145199.3(LIPT1):c.150G>T (p.Trp50Cys)	LIPT1, MITD1 (W50C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1905837	NM_145199.3(LIPT1):c.152T>C (p.Ile51Thr)	LIPT1, MITD1 (I51T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1437160	NM_145199.3(LIPT1):c.184A>G (p.Ile62Val)	LIPT1, MITD1 (I62V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 189836	NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly)	LIPT1, MITD1 (R98G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 380548	NM_145199.3(LIPT1):c.315A>G (p.Thr105=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1998068	NM_145199.3(LIPT1):c.319dup (p.Tyr107fs)	LIPT1, MITD1 (Y107fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 420362	NM_145199.3(LIPT1):c.369del (p.Lys123fs)	LIPT1, MITD1 (K123fs)	Deletion (frameshift variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1375844	NM_145199.3(LIPT1):c.406G>T (p.Ala136Ser)	LIPT1, MITD1 (A136S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2003278	NM_145199.3(LIPT1):c.441G>T (p.Gln147His)	LIPT1, MITD1 (Q147H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 727071	NM_145199.3(LIPT1):c.452G>A (p.Arg151Lys)	MITD1, LIPT1 (R151K)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 546073	NM_145199.3(LIPT1):c.488C>T (p.Ser163Leu)	LIPT1, MITD1 (S163L)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1914089	NM_145199.3(LIPT1):c.495A>G (p.Thr165=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2823324	NM_145199.3(LIPT1):c.507C>T (p.Ile169=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1652532	NM_145199.3(LIPT1):c.522C>G (p.Ala174=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1538710	NM_145199.3(LIPT1):c.546T>C (p.Cys182=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1928507	NM_145199.3(LIPT1):c.553G>A (p.Asp185Asn)	LIPT1, MITD1 (D185N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2150311	NM_145199.3(LIPT1):c.560C>T (p.Thr187Met)	LIPT1, MITD1 (T187M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2912809	NM_145199.3(LIPT1):c.561G>A (p.Thr187=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 379991	NM_145199.3(LIPT1):c.565T>C (p.Leu189=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2026461	NM_145199.3(LIPT1):c.576G>A (p.Leu192=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1597778	NM_145199.3(LIPT1):c.594A>G (p.Gln198=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 385586	NM_145199.3(LIPT1):c.613A>G (p.Thr205Ala)	LIPT1, MITD1 (T205A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1525785	NM_145199.3(LIPT1):c.643C>A (p.Leu215Ile)	MITD1, LIPT1 (L215I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1983705	NM_145199.3(LIPT1):c.654G>C (p.Lys218Asn)	LIPT1, MITD1 (K218N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 762904	NM_145199.3(LIPT1):c.681A>G (p.Leu227=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 379992	NM_145199.3(LIPT1):c.711T>C (p.Ala237=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 747180	NM_145199.3(LIPT1):c.726T>C (p.Asp242=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1461073	NM_145199.3(LIPT1):c.752_801del (p.Thr251fs)	LIPT1, MITD1 (T251fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2104517	NM_145199.3(LIPT1):c.754G>T (p.Asp252Tyr)	LIPT1, MITD1 (D252Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1440056	NM_145199.3(LIPT1):c.784A>G (p.Lys262Glu)	LIPT1, MITD1 (K262E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1359627	NM_145199.3(LIPT1):c.807G>C (p.Trp269Cys)	LIPT1, MITD1 (W269C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1470655	NM_145199.3(LIPT1):c.808G>T (p.Glu270Ter)	LIPT1, MITD1 (E270*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1423162	NM_145199.3(LIPT1):c.808G>A (p.Glu270Lys)	LIPT1, MITD1 (E270K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1419051	NM_145199.3(LIPT1):c.824A>G (p.Lys275Arg)	LIPT1, MITD1 (K275R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2415126	NM_145199.3(LIPT1):c.861G>A (p.Val287=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1943920	NM_145199.3(LIPT1):c.879C>T (p.His293=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1359554	NM_145199.3(LIPT1):c.885A>C (p.Glu295Asp)	LIPT1, MITD1 (E295D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1999330	NM_145199.3(LIPT1):c.892G>C (p.Val298Leu)	LIPT1, MITD1 (V298L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1365043	NM_145199.3(LIPT1):c.906A>T (p.Ile302=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2192721	NM_145199.3(LIPT1):c.935T>C (p.Ile312Thr)	LIPT1, MITD1 (I312T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1371883	NM_145199.3(LIPT1):c.949C>G (p.His317Asp)	LIPT1, MITD1 (H317D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2094999	NM_145199.3(LIPT1):c.965A>G (p.Glu322Gly)	LIPT1, MITD1 (E322G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1503707	NM_145199.3(LIPT1):c.967A>G (p.Ile323Val)	LIPT1, MITD1 (I323V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2166138	NM_145199.3(LIPT1):c.970C>T (p.Arg324Cys)	LIPT1, MITD1 (R324C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1416570	NM_145199.3(LIPT1):c.975C>A (p.Asp325Glu)	LIPT1, MITD1 (D325E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 736516	NM_145199.3(LIPT1):c.1026C>A (p.Thr342=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1717104	NM_145199.3(LIPT1):c.1051A>C (p.Thr351Pro)	LIPT1, MITD1 (T351P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 391667	NM_145199.3(LIPT1):c.1053A>G (p.Thr351=)	MITD1, LIPT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1993136	NM_145199.3(LIPT1):c.1062A>G (p.Gln354=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 507157	NM_145199.3(LIPT1):c.1107T>A (p.Ile369=)	MITD1, LIPT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1445375	NC_000002.11:g.(?_99778421)_(99779542_?)dup	LIPT1	Duplication	not provided	GUncertain significance

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Items: 59