ClinVar for Gene (Select 129531) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377019	NM_145199.3(LIPT1):c.244C>T (p.Gln82Ter)	LIPT1, MITD1 (Q82*)	Single nucleotide variant (nonsense +1 more)	Lipoyl transferase 1 deficiency	GLikely pathogenic
Select item 3345187	NM_145199.3(LIPT1):c.*4del	LIPT1, MITD1	Deletion (3 prime UTR variant +1 more)	LIPT1-related disorder	GLikely benign
Select item 3294963	NM_138798.3(MITD1):c.704A>G (p.Glu235Gly)	MITD1 (E235G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290839	NM_145199.3(LIPT1):c.971G>C (p.Arg324Pro)	LIPT1, MITD1 (R324P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3290838	NM_145199.3(LIPT1):c.469G>A (p.Asp157Asn)	LIPT1, MITD1 (D157N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3126766	NM_138798.3(MITD1):c.125T>C (p.Ile42Thr)	LOC129934429, MITD1 (I42T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3119115	NM_145199.3(LIPT1):c.977A>G (p.Lys326Arg)	LIPT1, MITD1 (K326R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119114	NM_145199.3(LIPT1):c.446C>A (p.Thr149Asn)	LIPT1, MITD1 (T149N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3119113	NM_145199.3(LIPT1):c.1018G>A (p.Glu340Lys)	LIPT1, MITD1 (E340K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063680	NM_145199.3(LIPT1):c.368del (p.Lys123fs)	LIPT1, MITD1 (K123fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3034867	NM_145199.3(LIPT1):c.1074A>G (p.Leu358=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	LIPT1-related disorder	GLikely benign
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 2912809	NM_145199.3(LIPT1):c.561G>A (p.Thr187=)	LIPT1, MITD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2602639	NM_145199.3(LIPT1):c.995T>C (p.Ile332Thr)	LIPT1, MITD1 (I332T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557955	NM_138798.3(MITD1):c.730A>C (p.Lys244Gln)	MITD1 (K215Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556085	NM_138798.3(MITD1):c.193A>G (p.Ile65Val)	MITD1 (I65V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2529974	NM_138798.3(MITD1):c.506G>A (p.Gly169Asp)	MITD1 (G140D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512732	NM_138798.3(MITD1):c.16C>A (p.Leu6Met)	LOC129934430, MITD1 (L6M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
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 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 2391211	NM_138798.3(MITD1):c.371A>G (p.Tyr124Cys)	MITD1 (Y124C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385337	NM_145199.3(LIPT1):c.655G>T (p.Asp219Tyr)	LIPT1, MITD1 (D219Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368848	NM_145199.3(LIPT1):c.551C>G (p.Thr184Ser)	LIPT1, MITD1 (T184S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2344824	NM_138798.3(MITD1):c.323G>A (p.Arg108His)	MITD1 (R108H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334101	NM_138798.3(MITD1):c.175T>C (p.Cys59Arg)	MITD1 (C59R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2329822	NM_138798.3(MITD1):c.626G>A (p.Arg209Lys)	MITD1 (R209K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315115	NM_145199.3(LIPT1):c.109A>T (p.Ile37Phe)	LIPT1, MITD1 (I37F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304154	NM_145199.3(LIPT1):c.736C>G (p.His246Asp)	LIPT1, MITD1 (H246D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286679	NM_145199.3(LIPT1):c.941C>T (p.Ala314Val)	LIPT1, MITD1 (A314V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285065	NM_145199.3(LIPT1):c.1013C>T (p.Pro338Leu)	LIPT1, MITD1 (P338L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270083	NM_145199.3(LIPT1):c.212C>G (p.Ser71Cys)	LIPT1, MITD1 (S71C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248264	NM_138798.3(MITD1):c.410T>G (p.Phe137Cys)	MITD1 (F137C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 1998068	NM_145199.3(LIPT1):c.319dup (p.Tyr107fs)	LIPT1, MITD1 (Y107fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
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 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 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 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 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 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 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
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 1802680	NM_145199.3(LIPT1):c.302G>A (p.Ser101Asn)	MITD1, LIPT1 (S101N)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
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 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
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 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 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 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 1526885	GRCh37/hg19 2q11.2(chr2:99725222-99846305)	C2orf15, LIPT1 +3 more	Copy number loss	not specified	GUncertain significance
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 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 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 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 1461073	NM_145199.3(LIPT1):c.752_801del (p.Thr251fs)	LIPT1, MITD1 (T251fs)	Deletion (frameshift 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 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 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 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 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 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 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 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 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 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 1325957	NC_000002.12:g.99163178_99163179insA	LIPT1, MITD1	Insertion	not provided	GBenign
Select item 1303234	NM_145199.3(LIPT1):c.858_861delinsGTATTA (p.His286fs)	MITD1, LIPT1 (H286fs)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1263259	NC_000002.12:g.99163191dup	LIPT1, MITD1	Duplication	not provided	GBenign
Select item 1239829	NC_000002.12:g.99163192C>A	LIPT1, MITD1	Single nucleotide variant	not provided	GBenign
Select item 1208630	NM_145199.3(LIPT1):c.2T>C (p.Met1Thr)	LIPT1, MITD1 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1193380	NC_000002.12:g.99163192del	LIPT1, MITD1	Deletion	not provided	GLikely benign
Select item 1178173	NM_145199.3(LIPT1):c.-1-270del	LIPT1, MITD1	Deletion (intron variant)	not provided	GBenign
Select item 980468	GRCh37/hg19 2q11.2(chr2:99356669-99984607)x3	LYG2, TXNDC9 +8 more	Copy number gain	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 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 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 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 727071	NM_145199.3(LIPT1):c.452G>A (p.Arg151Lys)	LIPT1, MITD1 (R151K)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 688876	GRCh37/hg19 2q11.2(chr2:99542665-100190293)x1	AFF3, C2orf15 +10 more	Copy number loss	not provided	GUncertain significance
Select item 686191	GRCh37/hg19 2q11.2(chr2:99785140-99817216)x1	MITD1, MRPL30	Copy number loss	not provided	GUncertain significance
Select item 585037	NM_145199.3(LIPT1):c.713A>G (p.Tyr238Cys)	LIPT1, MITD1 (Y238C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
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 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 452463	NM_145199.3(LIPT1):c.79dup (p.Thr27fs)	MITD1, LIPT1 (T27fs)	Duplication (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity

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