Related gene-specific medical variations for Gene (Select 23175) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247590	NC_000002.11:g.(?_11943013)_(11943179_?)del	LPIN1	Deletion	not provided	GPathogenic
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 3006629	NM_001349206.2(LPIN1):c.835del (p.Ser279fs)	LOC126806147, LPIN1 (S292fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2996914	NM_001349206.2(LPIN1):c.1443G>A (p.Ser481=)	LOC122756382, LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991344	NM_001349206.2(LPIN1):c.955A>G (p.Lys319Glu)	LOC126806147, LPIN1 (K283E +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2990361	NM_001349206.2(LPIN1):c.1359-9T>A	LOC122756382, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847892	NM_001349206.2(LPIN1):c.852A>G (p.Ser284=)	LOC126806147, LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2835440	NM_001349206.2(LPIN1):c.935G>C (p.Gly312Ala)	LOC126806147, LPIN1 (G282A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777752	NM_001349206.2(LPIN1):c.957+20T>C	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710056	NM_001349206.2(LPIN1):c.1404C>T (p.Ala468=)	LOC122756382, LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2551420	NM_001349206.2(LPIN1):c.1442C>T (p.Ser481Leu)	LOC122756382, LPIN1 (S445L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490788	NM_001349206.2(LPIN1):c.1388C>A (p.Ala463Glu)	LOC122756382, LPIN1 (A427E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2417447	NM_001349206.2(LPIN1):c.837C>T (p.Ser279=)	LOC126806147, LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2198709	NM_001349206.2(LPIN1):c.1443G>T (p.Ser481=)	LOC122756382, LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2166399	NM_001349206.2(LPIN1):c.933G>A (p.Trp311Ter)	LOC126806147, LPIN1 (W281* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2161426	NM_001349206.2(LPIN1):c.930G>A (p.Leu310=)	LOC126806147, LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2151620	NM_001349206.2(LPIN1):c.1378G>A (p.Ala460Thr)	LOC122756382, LPIN1 (A473T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2072686	NM_001349206.2(LPIN1):c.878T>G (p.Val293Gly)	LOC126806147, LPIN1 (V306G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2070951	NM_001349206.2(LPIN1):c.957+16A>G	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069756	NM_001349206.2(LPIN1):c.838G>A (p.Gly280Ser)	LPIN1, LOC126806147 (G280S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2066424	NM_001349206.2(LPIN1):c.844C>T (p.Arg282Ter)	LOC126806147, LPIN1 (R246* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2062406	NM_001349206.2(LPIN1):c.1385A>C (p.His462Pro)	LOC122756382, LPIN1 (H432P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2059158	NM_001349206.2(LPIN1):c.831-19_831-18delinsTA	LOC126806147, LPIN1	Indel (intron variant)	not provided	GUncertain significance
Select item 2043475	NM_001349206.2(LPIN1):c.1379C>T (p.Ala460Val)	LOC122756382, LPIN1 (A473V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1988094	NM_001349206.2(LPIN1):c.1402G>C (p.Ala468Pro)	LOC122756382, LPIN1 (A432P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1977305	NM_001349206.2(LPIN1):c.1398C>T (p.Asn466=)	LOC122756382, LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1972582	NM_001349206.2(LPIN1):c.1371C>T (p.Ser457=)	LOC122756382, LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1964073	NM_001349206.2(LPIN1):c.899C>G (p.Thr300Arg)	LOC126806147, LPIN1 (T313R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962774	NM_001349206.2(LPIN1):c.831-6C>T	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959578	NM_001349206.2(LPIN1):c.1359-19C>A	LOC122756382, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954465	NM_001349206.2(LPIN1):c.1406G>C (p.Arg469Pro)	LOC122756382, LPIN1 (R433P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953724	NM_001349206.2(LPIN1):c.1359-5del	LOC122756382, LPIN1	Deletion (intron variant)	not provided	GLikely benign
Select item 1948087	NM_001349206.2(LPIN1):c.957+15A>T	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948086	NM_001349206.2(LPIN1):c.877G>T (p.Val293Phe)	LOC126806147, LPIN1 (V342F +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945424	NM_001349206.2(LPIN1):c.957+6A>T	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1937537	NM_001349206.2(LPIN1):c.1490T>G (p.Leu497Arg)	LOC122756382, LPIN1 (L461R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1899853	NM_001349206.2(LPIN1):c.896G>T (p.Arg299Met)	LOC126806147, LPIN1 (R299M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723557	NM_001349206.2(LPIN1):c.957+6_957+7del	LOC126806147, LPIN1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1509851	NM_001349206.2(LPIN1):c.1390A>G (p.Ser464Gly)	LOC122756382, LPIN1 (S434G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 1416906	NM_001349206.2(LPIN1):c.955A>C (p.Lys319Gln)	LOC126806147, LPIN1 (K283Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1394784	NM_001349206.2(LPIN1):c.1478G>A (p.Gly493Glu)	LOC122756382, LPIN1 (G463E +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1385006	NM_001349206.2(LPIN1):c.1369T>G (p.Ser457Ala)	LOC122756382, LPIN1 (S456A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352798	NM_001349206.2(LPIN1):c.1428G>C (p.Gln476His)	LOC122756382, LPIN1 (Q446H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1304334	NM_001349206.2(LPIN1):c.928C>T (p.Leu310=)	LPIN1, LOC126806147	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1280115	NM_001349206.2(LPIN1):c.957+256_957+257del	LOC126806147, LPIN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1249744	NM_001349206.2(LPIN1):c.957+250del	LOC126806147, LPIN1	Deletion (intron variant)	not provided	GBenign
Select item 1227625	NM_001349206.2(LPIN1):c.831-147G>A	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212702	NM_001349206.2(LPIN1):c.957+222C>T	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207078	NM_001349206.2(LPIN1):c.957+250dup	LOC126806147, LPIN1	Duplication (intron variant)	not provided	GLikely benign
Select item 1195257	NM_001349206.2(LPIN1):c.1359-51C>G	LOC122756382, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191200	NM_001349206.2(LPIN1):c.957+130G>T	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181940	NM_001349206.2(LPIN1):c.957+249T>G	LPIN1, LOC126806147	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1076048	NM_001349206.2(LPIN1):c.944_953del (p.Pro315fs)	LOC126806147, LPIN1 (P279fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 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 683089	NM_001349206.2(LPIN1):c.1359-62T>C	LOC122756382, LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
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 591778	NM_001349206.2(LPIN1):c.2237A>G (p.His746Arg)	LPIN1 (H710R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 591396	NM_001349206.2(LPIN1):c.669C>G (p.Tyr223Ter)	LPIN1 (Y223* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 452931	NM_001349206.2(LPIN1):c.-10+4A>G	LOC129933127, LPIN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 392031	NM_001349206.2(LPIN1):c.842C>A (p.Ser281Tyr)	LOC126806147, LPIN1 (S245Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 330916	NM_001349206.2(LPIN1):c.1374A>C (p.Gly458=)	LOC122756382, LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 330900	NM_001349206.2(LPIN1):c.-11C>T	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 330899	NM_001349206.2(LPIN1):c.-26A>G	LOC129933127, LPIN1	Single nucleotide variant (5 prime UTR variant +2 more)	Myoglobinuria, acute recurrent, autosomal recessive	GUncertain significance
Select item 330898	NM_145693.3(LPIN1):c.-69G>A	LPIN1, LOC129933127	Single nucleotide variant (intron variant)	Acute Recurrent Myoglobinuria	GUncertain significance
Select item 330897	NM_145693.3(LPIN1):c.-75T>G	LOC129933127, LPIN1	Single nucleotide variant (intron variant)	Acute Recurrent Myoglobinuria	GUncertain significance
Select item 280315	NM_001349206.2(LPIN1):c.1363_1364dup (p.Asp455fs)	LOC122756382, LPIN1 (D455fs +6 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 262593	NM_001349206.2(LPIN1):c.289-35C>T	LPIN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 262582	NM_001349206.2(LPIN1):c.1553C>T (p.Ala518Val)	LPIN1 (A482V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 262581	NM_001349206.2(LPIN1):c.1264+34G>C	LPIN1	Single nucleotide variant (intron variant)	not specified	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 79