"GeneDx"[submitter] AND "LPIN1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 158

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 152514	GRCh38/hg38 2p25.1(chr2:11616843-11804136)x3	GREB1, LOC100506405 +14 more	Copy number gain	See cases	GLikely benign
Select item 684288	NM_145693.2(LPIN1):c.-69445T>G	LPIN1	Single nucleotide variant	not provided	GBenign
Select item 671156	NM_145693.2(LPIN1):c.-69443G>A	LPIN1	Single nucleotide variant	not provided	GBenign
Select item 1204350	NC_000002.12:g.11677348C>A	LPIN1	Single nucleotide variant	not provided	GLikely benign
Select item 667618	NM_145693.2(LPIN1):c.-69102G>A	LPIN1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 403044	NC_000002.12:g.11677686G>C	LPIN1 (E13D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 1195378	NM_001261428.3(LPIN1):c.81+129G>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293184	NM_001261428.3(LPIN1):c.81+165G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211392	NM_001261428.3(LPIN1):c.81+171T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200599	NM_001261428.3(LPIN1):c.81+198G>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290682	NM_001261428.3(LPIN1):c.81+275G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247440	NM_001261428.3(LPIN1):c.82-299G>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226194	NM_001261428.3(LPIN1):c.82-297C>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205038	NM_001261428.3(LPIN1):c.82-285A>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201944	NM_001261428.3(LPIN1):c.82-154dup	LPIN1	Duplication (intron variant)	not provided	GLikely benign
Select item 670680	NM_145693.2(LPIN1):c.-33085T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670679	NM_145693.2(LPIN1):c.-33052G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683083	NM_145693.2(LPIN1):c.-33033T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193983	NM_001261428.3(LPIN1):c.82-39C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 403045	NM_001261428.3(LPIN1):c.113G>A (p.Arg38Gln)	LPIN1 (R38Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1270822	NM_001261428.3(LPIN1):c.138+25C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
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 683084	NM_145693.2(LPIN1):c.-32819A>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670695	NM_145693.2(LPIN1):c.-32795G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683085	NM_145693.2(LPIN1):c.-32708T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684294	NM_145693.2(LPIN1):c.-5609A>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177835	NM_001261427.3(LPIN1):c.-71-55C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684298	NM_145693.2(LPIN1):c.-4998T>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211651	NM_001261427.3(LPIN1):c.9+291G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 452931	NM_001349206.2(LPIN1):c.-10+4A>G	LOC129933127, LPIN1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1213524	NM_001349206.2(LPIN1):c.-9-269G>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189058	NM_001349206.2(LPIN1):c.-9-192C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679644	NM_001349206.2(LPIN1):c.-9-161C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245028	NM_001349206.2(LPIN1):c.-9-14del	LPIN1	Deletion (intron variant)	not provided	GBenign
Select item 1291316	NM_001349206.2(LPIN1):c.-9-21T>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205474	NM_001349206.2(LPIN1):c.181C>T (p.Arg61Ter)	LPIN1 (R110* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 96495	NM_001349206.2(LPIN1):c.192+17C>T	LPIN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1211742	NM_001349206.2(LPIN1):c.192+147T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244114	NM_001349206.2(LPIN1):c.192+171C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292194	NM_001349206.2(LPIN1):c.192+190G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683117	NM_001349206.2(LPIN1):c.192+197A>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186989	NM_001349206.2(LPIN1):c.193-97C>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262589	NM_001349206.2(LPIN1):c.193-47C>T	LPIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262588	NM_001349206.2(LPIN1):c.193-43G>T	LPIN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1215461	NM_001349206.2(LPIN1):c.288+154T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262594	NM_001349206.2(LPIN1):c.420C>T (p.Ile140=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2143267	NM_001349206.2(LPIN1):c.437C>T (p.Pro146Leu)	LPIN1 (P152L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 96497	NM_001349206.2(LPIN1):c.552C>T (p.Ile184=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1270701	NM_001349206.2(LPIN1):c.596+141G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670452	NM_001349206.2(LPIN1):c.596+152G>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670453	NM_001349206.2(LPIN1):c.596+176C>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199487	NM_001349206.2(LPIN1):c.597-317G>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275535	NM_001349206.2(LPIN1):c.597-308C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
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 262595	NM_001349206.2(LPIN1):c.657G>A (p.Leu219=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 262596	NM_001349206.2(LPIN1):c.696G>C (p.Ser232=)	LPIN1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1275009	NM_001349206.2(LPIN1):c.723-171T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221237	NM_001349206.2(LPIN1):c.723-156TA[2]	LPIN1	Microsatellite (intron variant)	not provided	GBenign
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 1253403	NM_001349206.2(LPIN1):c.830+36A>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197731	NM_001349206.2(LPIN1):c.830+65A>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227625	NM_001349206.2(LPIN1):c.831-147G>A	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 1723557	NM_001349206.2(LPIN1):c.957+6_957+7del	LOC126806147, LPIN1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1191200	NM_001349206.2(LPIN1):c.957+130G>T	LOC126806147, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1249744	NM_001349206.2(LPIN1):c.957+250del	LOC126806147, LPIN1	Deletion (intron variant)	not provided	GBenign
Select item 1181940	NM_001349206.2(LPIN1):c.957+249T>G	LPIN1, LOC126806147	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280115	NM_001349206.2(LPIN1):c.957+256_957+257del	LOC126806147, LPIN1	Microsatellite (intron variant)	not provided	GBenign
Select item 669649	NM_001349206.2(LPIN1):c.958-273A>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202682	NM_001349206.2(LPIN1):c.958-196A>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262597	NM_001349206.2(LPIN1):c.958TCT[2] (p.Ser322del)	LPIN1 (S286del +6 more)	Microsatellite (inframe_deletion +1 more)	not specified +3 more	GBenign/Likely benign
Select item 330914	NM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu)	LPIN1 (Q373E +6 more)	Single nucleotide variant (missense variant +1 more)	Myoglobinuria, acute recurrent, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 514350	NM_001349206.2(LPIN1):c.1264+5C>T	LPIN1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1196037	NM_001349206.2(LPIN1):c.1264+115A>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230271	NM_001349206.2(LPIN1):c.1264+222A>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669650	NM_001349206.2(LPIN1):c.1264+273C>T	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290988	NM_001349206.2(LPIN1):c.1265-280A>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
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 1311903	NM_001349206.2(LPIN1):c.1292A>G (p.Asp431Gly)	LPIN1 (D395G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1219700	NM_001349206.2(LPIN1):c.1358+155G>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229091	NM_001349206.2(LPIN1):c.1358+245G>A	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295181	NM_001349206.2(LPIN1):c.1359-194T>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683089	NM_001349206.2(LPIN1):c.1359-62T>C	LOC122756382, LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195257	NM_001349206.2(LPIN1):c.1359-51C>G	LOC122756382, LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 280315	NM_001349206.2(LPIN1):c.1363_1364dup (p.Asp455fs)	LOC122756382, LPIN1 (D455fs +6 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 683090	NM_001349206.2(LPIN1):c.1549+133A>G	LPIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208768	NM_001349206.2(LPIN1):c.1549+296T>C	LPIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 451800	NM_001349206.2(LPIN1):c.1583A>G (p.Gln528Arg)	LPIN1 (Q492R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 262583	NM_001349206.2(LPIN1):c.1588G>A (p.Val530Met)	LPIN1 (V494M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1698250	NM_001349206.2(LPIN1):c.1600G>T (p.Ala534Ser)	LPIN1 (A498S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1230598	NM_001349206.2(LPIN1):c.1643+231_1643+232del	LPIN1	Deletion (intron variant)	not provided	GBenign

<< First< Prev

Page of 2