ClinVar for MedGen (Select 340308) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338439	GRCh37/hg19 2p25.1(chr2:11959558-11959775)x0	LPIN1	Copy number loss	Myoglobinuria, acute recurrent, autosomal recessive	GLikely pathogenic
Select item 3067903	NM_001261428.3(LPIN1):c.81+5G>T	LPIN1	Single nucleotide variant (intron variant)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 2444342	NM_001349206.2(LPIN1):c.1029del (p.Gln344fs)	LPIN1 (Q308fs +6 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2433499	NM_001349206.2(LPIN1):c.2486C>G (p.Pro829Arg)	LPIN1 (P793R +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 2052974	NM_001349206.2(LPIN1):c.176G>A (p.Arg59His)	LPIN1 (R65H +3 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 2039658	NM_001349206.2(LPIN1):c.2223C>T (p.Ile741=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 1803113	NM_001349206.2(LPIN1):c.1714-126A>G	LPIN1	Single nucleotide variant (intron variant)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 1658512	NM_001349206.2(LPIN1):c.1807-18del	LPIN1	Deletion (intron variant)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GLikely benign
Select item 1646995	NM_001349206.2(LPIN1):c.2331C>T (p.Asn777=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1593320	NM_001349206.2(LPIN1):c.1670C>A (p.Pro557His)	LPIN1 (P521H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1581307	NM_001349206.2(LPIN1):c.1923C>T (p.Arg641=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1555875	NM_001349206.2(LPIN1):c.2229G>A (p.Lys743=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1550379	NM_001349206.2(LPIN1):c.1265-8C>T	LPIN1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1481448	NM_001349206.2(LPIN1):c.2066C>T (p.Thr689Met)	LPIN1 (T653M +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1476439	NM_001349206.2(LPIN1):c.1542C>G (p.Ile514Met)	LPIN1 (I513M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1475673	NM_001349206.2(LPIN1):c.1208C>G (p.Pro403Arg)	LPIN1 (P373R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1465375	NM_001349206.2(LPIN1):c.1807-2A>G	LPIN1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1464235	NM_001349206.2(LPIN1):c.541A>G (p.Met181Val)	LPIN1 (M211V +3 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 1441012	NM_001349206.2(LPIN1):c.1475A>G (p.Asp492Gly)	LOC122756382, LPIN1 (D505G +6 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 1440138	NM_001349206.2(LPIN1):c.1110C>A (p.Asn370Lys)	LPIN1 (N340K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1419330	NM_001349206.2(LPIN1):c.928C>G (p.Leu310Val)	LOC126806147, LPIN1 (L280V +6 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 1412584	NM_001349206.2(LPIN1):c.1121C>T (p.Thr374Ile)	LPIN1 (T344I +6 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +2 more	GUncertain significance
Select item 1406492	NM_001349206.2(LPIN1):c.1651A>T (p.Asn551Tyr)	LPIN1 (N521Y +6 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +2 more	GUncertain significance
Select item 1404955	NM_001349206.2(LPIN1):c.1979A>G (p.Tyr660Cys)	LPIN1 (Y630C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1400352	NM_001349206.2(LPIN1):c.1982A>G (p.Lys661Arg)	LPIN1 (K691R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1368742	NM_001349206.2(LPIN1):c.967C>G (p.Pro323Ala)	LPIN1 (P322A +6 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 1367114	NM_001349206.2(LPIN1):c.2621C>T (p.Ser874Leu)	LPIN1 (S844L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1360705	NM_001349206.2(LPIN1):c.245A>G (p.Asp82Gly)	LPIN1 (D131G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1345359	NM_001349206.2(LPIN1):c.73G>A (p.Ala25Thr)	LPIN1 (A31T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1323246	NM_001349206.2(LPIN1):c.1564C>T (p.Gln522Ter)	LPIN1 (Q486* +6 more)	Single nucleotide variant (nonsense +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GPathogenic
Select item 1307659	NM_001349206.2(LPIN1):c.1893G>T (p.Lys631Asn)	LPIN1 (K595N +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +2 more	GUncertain significance
Select item 1304589	NM_001349206.2(LPIN1):c.1271G>A (p.Arg424Gln)	LPIN1 (R388Q +6 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 1217615	NM_001349206.2(LPIN1):c.597-18T>A	LPIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1179725	NM_001261428.3(LPIN1):c.45G>A (p.Ser15=)	LPIN1	Single nucleotide variant (synonymous variant)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GLikely benign
Select item 1163781	NM_001349206.2(LPIN1):c.2777C>T (p.Ala926Val)	LPIN1 (A890V +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1050803	NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter)	LPIN1 (R390* +6 more)	Single nucleotide variant (nonsense +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 1027770	NM_001349206.2(LPIN1):c.434C>T (p.Thr145Met)	LPIN1 (T151M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1027769	NM_001349206.2(LPIN1):c.1862C>T (p.Pro621Leu)	LPIN1 (P634L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 973297	NM_001349206.2(LPIN1):c.2219G>A (p.Gly740Asp)	LPIN1 (G704D +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894568	NM_001349206.2(LPIN1):c.*2208T>C	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GLikely benign
Select item 894567	NM_001349206.2(LPIN1):c.*2145A>G	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894566	NM_001349206.2(LPIN1):c.*1997C>T	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894533	NM_001349206.2(LPIN1):c.*777G>A	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894532	NM_001349206.2(LPIN1):c.*704A>G	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894531	NM_001349206.2(LPIN1):c.*682G>C	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GBenign
Select item 894495	NM_001349206.2(LPIN1):c.1886+5G>A	LPIN1	Single nucleotide variant (intron variant)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 894494	NM_001349206.2(LPIN1):c.1852G>A (p.Gly618Arg)	LPIN1 (G618R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894493	NM_001349206.2(LPIN1):c.1795A>G (p.Thr599Ala)	LPIN1 (T563A +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 894460	NM_001349206.2(LPIN1):c.152G>A (p.Arg51His)	LPIN1 (R57H +3 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894459	NM_001349206.2(LPIN1):c.42C>T (p.Thr14=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 894458	NM_001349206.2(LPIN1):c.24C>T (p.Ala8=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 894162	NM_001349206.2(LPIN1):c.*1933G>C	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GLikely benign
Select item 894161	NM_001349206.2(LPIN1):c.*1772G>C	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894160	NM_001349206.2(LPIN1):c.*1744A>G	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894159	NM_001349206.2(LPIN1):c.*1723A>C	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894158	NM_001349206.2(LPIN1):c.*1714C>T	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894133	NM_001349206.2(LPIN1):c.*271G>A	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894101	NM_001349206.2(LPIN1):c.1663G>A (p.Ala555Thr)	LPIN1 (A554T +6 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 894100	NM_001349206.2(LPIN1):c.1265-7G>A	LPIN1	Single nucleotide variant (intron variant)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 894099	NM_001349206.2(LPIN1):c.1242G>A (p.Thr414=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GBenign/Likely benign
Select item 894059	NM_001349206.2(LPIN1):c.-15C>A	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894058	NM_001349206.2(LPIN1):c.-26A>C	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 894057	NM_001349206.2(LPIN1):c.-35A>G	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893321	NM_001349206.2(LPIN1):c.*1604T>C	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GLikely benign
Select item 893320	NM_001349206.2(LPIN1):c.*1582T>G	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893319	NM_001349206.2(LPIN1):c.*1487G>A	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893318	NM_001349206.2(LPIN1):c.*1430C>T	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893282	NM_001349206.2(LPIN1):c.2674A>T (p.Ser892Cys)	LPIN1 (S862C +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893281	NM_001349206.2(LPIN1):c.2609C>G (p.Thr870Ser)	LPIN1 (T869S +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893280	NM_001349206.2(LPIN1):c.2414A>G (p.Glu805Gly)	LPIN1 (E805G +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 893279	NM_001349206.2(LPIN1):c.2403-8T>G	LPIN1	Single nucleotide variant (intron variant)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893278	NM_001349206.2(LPIN1):c.2343G>A (p.Thr781=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893248	NM_001349206.2(LPIN1):c.879C>G (p.Val293=)	LOC126806147, LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893247	NM_001349206.2(LPIN1):c.854C>A (p.Thr285Lys)	LOC126806147, LPIN1 (T255K +6 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 893109	NM_001349206.2(LPIN1):c.*1100T>C	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893108	NM_001349206.2(LPIN1):c.*1066A>G	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893107	NM_001349206.2(LPIN1):c.*927A>G	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893075	NM_001349206.2(LPIN1):c.2342C>T (p.Thr781Met)	LPIN1 (T745M +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +2 more	GUncertain significance
Select item 893074	NM_001349206.2(LPIN1):c.2168A>G (p.Asp723Gly)	LPIN1 (D713G +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 893073	NM_001349206.2(LPIN1):c.2150G>T (p.Gly717Val)	LPIN1 (G717V +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893072	NM_001349206.2(LPIN1):c.2043C>T (p.Asn681=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893071	NM_001349206.2(LPIN1):c.2030A>T (p.Lys677Met)	LPIN1 (K641M +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893070	NM_001349206.2(LPIN1):c.1972G>A (p.Val658Ile)	LPIN1 (V658I +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 893032	NM_001349206.2(LPIN1):c.524C>T (p.Thr175Ile)	LPIN1 (T205I +3 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 893031	NM_001349206.2(LPIN1):c.438G>A (p.Pro146=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 893030	NM_001349206.2(LPIN1):c.309G>T (p.Leu103=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 807626	NM_001349206.2(LPIN1):c.942del (p.Pro315fs)	LOC126806147, LPIN1 (P314fs +6 more)	Deletion (frameshift variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GPathogenic/Likely pathogenic
Select item 797319	NM_001349206.2(LPIN1):c.945G>T (p.Pro315=)	LOC126806147, LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 790497	NM_001349206.2(LPIN1):c.564G>A (p.Ser188=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 785777	NM_001349206.2(LPIN1):c.2067G>T (p.Thr689=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 785776	NM_001349206.2(LPIN1):c.1922G>A (p.Arg641His)	LPIN1 (R690H +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 785752	NM_001349206.2(LPIN1):c.2163-10C>T	LPIN1	Single nucleotide variant (intron variant)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GLikely benign
Select item 683087	NM_001261428.3(LPIN1):c.138+26G>A	LPIN1	Single nucleotide variant (intron variant)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GBenign
Select item 666367	NM_001349206.2(LPIN1):c.2518G>C (p.Asp840His)	LPIN1 (D840H +7 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 666366	NM_001349206.2(LPIN1):c.2057_2075dup (p.Gly693fs)	LPIN1 (G657fs +7 more)	Duplication (frameshift variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GLikely pathogenic
Select item 632328	NM_001349206.2(LPIN1):c.1367del (p.Pro456fs)	LOC122756382, LPIN1 (P426fs +6 more)	Deletion (frameshift variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 449053	NM_001349206.2(LPIN1):c.723-2A>C	LPIN1	Single nucleotide variant (splice acceptor variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GUncertain significance
Select item 403044	NC_000002.12:g.11677686G>C	LPIN1 (E13D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 330959	NM_001349206.2(LPIN1):c.*2597C>T	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 330958	NM_001349206.2(LPIN1):c.*2491G>A	LPIN1	Single nucleotide variant (3 prime UTR variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive	GBenign

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