"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LPIN1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 330902	NM_001349206.2(LPIN1):c.110G>A (p.Arg37His)	LPIN1 (R37H +3 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +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 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 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 1217615	NM_001349206.2(LPIN1):c.597-18T>A	LPIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 330908	NM_001349206.2(LPIN1):c.616C>G (p.Pro206Ala)	LPIN1 (P206A +3 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +2 more	GUncertain significance
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 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 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 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 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 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 1550379	NM_001349206.2(LPIN1):c.1265-8C>T	LPIN1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 4911	NM_001349206.2(LPIN1):c.1270C>T (p.Arg424Ter)	LPIN1 (R388* +6 more)	Single nucleotide variant (nonsense +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GPathogenic
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 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 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 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 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 1658512	NM_001349206.2(LPIN1):c.1807-18del	LPIN1	Deletion (intron variant)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 262592	NM_001349206.2(LPIN1):c.2595G>A (p.Gln865=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GBenign/Likely benign
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 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

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Items: 38