"GeneDx"[submitter] AND "LPIN2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 59616	GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1	ADCYAP1, CETN1 +83 more	Copy number loss	See cases	GPathogenic
Select item 58747	GRCh38/hg38 18p11.32-11.31(chr18:180230-4199943)x3	ADCYAP1, CETN1 +113 more	Copy number gain	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 888926	NM_001375808.2(LPIN2):c.*90C>T	LPIN2	Single nucleotide variant (3 prime UTR variant)	Majeed syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1220349	NM_001375808.2(LPIN2):c.12_15del	LPIN2	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 326632	NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn)	LPIN2 (D891N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 234344	NM_001375808.2(LPIN2):c.2650C>T (p.Arg884Ter)	LPIN2 (R884*)	Single nucleotide variant (nonsense)	not specified +1 more	GUncertain significance
Select item 234588	NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=)	LPIN2	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 234343	NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe)	LPIN2 (C874F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 639857	NM_001375808.2(LPIN2):c.2617C>A (p.Pro873Thr)	LPIN2 (P873T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 245643	NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=)	LPIN2	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 138138	NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=)	LPIN2	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 245642	NM_001375808.2(LPIN2):c.2547-11C>T	LPIN2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1246516	NM_001375808.2(LPIN2):c.2547-47C>T	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678161	NM_001375808.2(LPIN2):c.2546+145T>C	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222181	NM_001375808.2(LPIN2):c.2546+51T>A	LPIN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 387742	NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=)	LPIN2	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 386782	NM_001375808.2(LPIN2):c.2484A>G (p.Arg828=)	LPIN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 626132	NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome +2 more	GConflicting classifications of pathogenicity
Select item 138137	NM_001375808.2(LPIN2):c.2443-9C>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome +2 more	GConflicting classifications of pathogenicity
Select item 246269	NM_001375808.2(LPIN2):c.2443-14A>G	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome +1 more	GLikely benign
Select item 1219698	NM_001375808.2(LPIN2):c.2443-22C>T	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243541	NM_001375808.2(LPIN2):c.2443-38C>A	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287608	NM_001375808.2(LPIN2):c.2443-276G>A	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191980	NM_001375808.2(LPIN2):c.2442+129C>T	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281497	NM_001375808.2(LPIN2):c.2442+87A>G	LPIN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 378929	NM_001375808.2(LPIN2):c.2427T>C (p.Phe809=)	LPIN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 234342	NM_001375808.2(LPIN2):c.2409G>C (p.Gln803His)	LPIN2 (Q803H)	Single nucleotide variant (missense variant)	Majeed syndrome +1 more	GUncertain significance
Select item 385598	NM_001375808.2(LPIN2):c.2400G>A (p.Pro800=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome +1 more	GLikely benign
Select item 234523	NM_001375808.2(LPIN2):c.2399C>T (p.Pro800Leu)	LPIN2 (P800L)	Single nucleotide variant (missense variant)	Majeed syndrome +1 more	GUncertain significance
Select item 418286	NM_001375808.2(LPIN2):c.2381T>C (p.Ile794Thr)	LPIN2 (I794T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 385657	NM_001375808.2(LPIN2):c.2371C>T (p.Leu791=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome +2 more	GConflicting classifications of pathogenicity
Select item 508924	NM_001375808.2(LPIN2):c.2328-15_2328-10del	LPIN2	Microsatellite (intron variant)	not specified +1 more	GLikely benign
Select item 138136	NM_001375808.2(LPIN2):c.2328-13A>T	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1180093	NM_001375808.2(LPIN2):c.2328-132A>G	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258042	NM_001375808.2(LPIN2):c.2327+66G>A	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 389793	NM_001375808.2(LPIN2):c.2327+14A>G	LPIN2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 138135	NM_001375808.2(LPIN2):c.2327+11G>A	LPIN2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 512397	NM_001375808.2(LPIN2):c.2327+9C>T	LPIN2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 391787	NM_001375808.2(LPIN2):c.2327+9C>A	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome +1 more	GLikely benign
Select item 138134	NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=)	LPIN2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 97815	NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=)	LPIN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 4908	NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu)	LPIN2 (S734L)	Single nucleotide variant (missense variant)	Majeed syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1191494	NM_001375808.2(LPIN2):c.2175-163G>T	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668717	NM_001375808.2(LPIN2):c.2175-253A>G	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203116	NM_001375808.2(LPIN2):c.2175-299T>C	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678208	NM_001375808.2(LPIN2):c.2174+218_2174+219del	LPIN2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1239442	NM_001375808.2(LPIN2):c.2174+17_2174+18insAT	LPIN2	Insertion (intron variant)	not provided +1 more	GBenign
Select item 234341	NM_001375808.2(LPIN2):c.2171A>G (p.Asn724Ser)	LPIN2 (N724S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 246320	NM_001375808.2(LPIN2):c.2088-7T>G	LPIN2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 714826	NM_001375808.2(LPIN2):c.2088-10G>A	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome +1 more	GLikely benign
Select item 1193612	NM_001375808.2(LPIN2):c.2088-66C>G	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214918	NM_001375808.2(LPIN2):c.2088-229G>A	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 246349	NM_001375808.2(LPIN2):c.1939-5A>G	LPIN2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 679037	NM_001375808.2(LPIN2):c.1939-159T>C	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 378095	NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser)	LPIN2 (P626S)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 245641	NM_001375808.2(LPIN2):c.1867C>T (p.Pro623Ser)	LPIN2 (P623S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 378094	NM_001375808.2(LPIN2):c.1815G>A (p.Ser605=)	LPIN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 234340	NM_001375808.2(LPIN2):c.1814C>T (p.Ser605Leu)	LPIN2 (S605L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 246270	NM_001375808.2(LPIN2):c.1812C>A (p.Ser604=)	LPIN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 138133	NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys)	LPIN2 (E601K)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 326636	NM_001375808.2(LPIN2):c.1796C>T (p.Pro599Leu)	LPIN2 (P599L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138132	NM_001375808.2(LPIN2):c.1794-9G>A	LPIN2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1281418	NM_001375808.2(LPIN2):c.1794-140A>G	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672554	NM_001375808.2(LPIN2):c.1793+270A>T	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672553	NM_001375808.2(LPIN2):c.1793+268C>T	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667687	NM_001375808.2(LPIN2):c.1793+260A>G	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667686	NM_001375808.2(LPIN2):c.1793+259C>T	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677719	NM_001375808.2(LPIN2):c.1793+242G>A	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286476	NM_001375808.2(LPIN2):c.1793+170del	LPIN2	Deletion (intron variant)	not provided	GBenign
Select item 679036	NM_001375808.2(LPIN2):c.1793+98G>A	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675776	NM_001375808.2(LPIN2):c.1793+23G>A	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138131	NM_001375808.2(LPIN2):c.1793+17C>T	LPIN2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 234498	NM_001375808.2(LPIN2):c.1781C>T (p.Pro594Leu)	LPIN2 (P594L)	Single nucleotide variant (missense variant)	Majeed syndrome +1 more	GUncertain significance
Select item 234517	NM_001375808.2(LPIN2):c.1745C>T (p.Pro582Leu)	LPIN2 (P582L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 234339	NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro)	LPIN2 (S579P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 373803	NM_001375808.2(LPIN2):c.1720T>A (p.Ser574Thr)	LPIN2 (S574T)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1181612	NM_001375808.2(LPIN2):c.1711-97A>C	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676925	NM_001375808.2(LPIN2):c.1711-220C>A	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679035	NM_001375808.2(LPIN2):c.1710+218G>A	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 234431	NM_001375808.2(LPIN2):c.1631A>G (p.Glu544Gly)	LPIN2 (E544G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 246139	NM_001375808.2(LPIN2):c.1621-18C>G	LPIN2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 679034	NM_001375808.2(LPIN2):c.1621-203_1621-193dup	LPIN2	Duplication (intron variant)	not provided	GLikely benign
Select item 1285991	NM_001375808.2(LPIN2):c.1620+208A>G	LPIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489197	NM_001375808.2(LPIN2):c.1594C>T (p.Gln532Ter)	LPIN2 (Q532*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 234338	NM_001375808.2(LPIN2):c.1550G>A (p.Arg517His)	LPIN2 (R517H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 234337	NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr)	LPIN2 (I505T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 97814	NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe)	LPIN2 (L504F)	Single nucleotide variant (missense variant)	Majeed syndrome +3 more	GConflicting classifications of pathogenicity
Select item 234336	NM_001375808.2(LPIN2):c.1492T>C (p.Phe498Leu)	LPIN2 (F498L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 234335	NM_001375808.2(LPIN2):c.1489G>A (p.Glu497Lys)	LPIN2 (E497K)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 234334	NM_001375808.2(LPIN2):c.1465A>C (p.Met489Leu)	LPIN2 (M489L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292810	NM_001375808.2(LPIN2):c.1457-98_1457-96del	LPIN2	Microsatellite (intron variant)	not provided	GBenign
Select item 673551	NM_001375808.2(LPIN2):c.1457-267dup	LPIN2	Duplication (intron variant)	not provided	GLikely benign
Select item 676926	NM_001375808.2(LPIN2):c.1456+170A>G	LPIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673532	NM_001375808.2(LPIN2):c.1456+29A>G	LPIN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2044504	NM_001375808.2(LPIN2):c.1456+5G>T	LPIN2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 326638	NM_001375808.2(LPIN2):c.1456+4C>G	LPIN2	Single nucleotide variant (intron variant)	Majeed syndrome +1 more	GConflicting classifications of pathogenicity
Select item 138130	NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=)	LPIN2	Single nucleotide variant (synonymous variant)	Majeed syndrome +1 more	GBenign/Likely benign
Select item 234333	NM_001375808.2(LPIN2):c.1375C>G (p.Leu459Val)	LPIN2 (L459V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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