LIPI[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1641486	NM_001302998.2(LIPI):c.1368A>C (p.Thr456=)	LIPI (H360P)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600119	NM_001302998.2(LIPI):c.1332C>A (p.Asp444Glu)	LIPI (D279E +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2065642	NM_001302998.2(LIPI):c.1331A>T (p.Asp444Val)	LIPI (D279V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3290825	NM_001302998.2(LIPI):c.1327A>G (p.Lys443Glu)	LIPI (K278E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290823	NM_001302998.2(LIPI):c.1303C>A (p.Leu435Ile)	LIPI (L270I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1656832	NM_001302998.2(LIPI):c.1296-9_1296-8del	LIPI	Microsatellite (intron variant)	not provided	GBenign
Select item 1600660	NM_001302998.2(LIPI):c.1291G>A (p.Glu431Lys)	LIPI (E266K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1551957	NM_001302998.2(LIPI):c.1263= (p.Ser421=)	LIPI	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 2968391	NM_001302998.2(LIPI):c.1211A>G (p.Tyr404Cys)	LIPI (Y239C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2182800	NM_001302998.2(LIPI):c.1204T>C (p.Leu402=)	LIPI	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3290824	NM_001302998.2(LIPI):c.1199T>C (p.Ile400Thr)	LIPI (I355T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307816	NM_001302998.2(LIPI):c.1182T>G (p.Phe394Leu)	LIPI (F388L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290826	NM_001302998.2(LIPI):c.1181T>A (p.Phe394Tyr)	LIPI (F229Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2997207	NM_001302998.2(LIPI):c.1181T>G (p.Phe394Cys)	LIPI (F364C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957545	NM_001302998.2(LIPI):c.1119-20G>A	LIPI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2279349	NM_001302998.2(LIPI):c.1096A>G (p.Ile366Val)	LIPI (I321V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1631719	NM_001302998.2(LIPI):c.1091G>A (p.Gly364Glu)	LIPI (G199E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1391468	NM_001302998.2(LIPI):c.1074A>C (p.Lys358Asn)	LIPI (K193N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1532871	NM_001302998.2(LIPI):c.1062G>A (p.Ser354=)	LIPI	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2975418	NM_001302998.2(LIPI):c.1046C>A (p.Thr349Asn)	LIPI (T184N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2851116	NM_001302998.2(LIPI):c.1034T>G (p.Val345Gly)	LIPI (V300G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2724562	NM_001302998.2(LIPI):c.1030A>C (p.Ile344Leu)	LIPI (I338L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3119081	NM_001302998.2(LIPI):c.1007C>G (p.Thr336Ser)	LIPI (T171S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3005272	NM_001302998.2(LIPI):c.1007-3T>C	LIPI	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1599486	NM_001302998.2(LIPI):c.1006+13C>T	LIPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1546899	NM_001302998.2(LIPI):c.1006+8A>G	LIPI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2071599	NM_001302998.2(LIPI):c.1006+6T>A	LIPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2602766	NM_001302998.2(LIPI):c.977T>C (p.Leu326Ser)	LIPI (L296S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119080	NM_001302998.2(LIPI):c.956C>T (p.Pro319Leu)	LIPI (P289L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1383166	NM_001302998.2(LIPI):c.946G>A (p.Glu316Lys)	LIPI (E151K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955396	NM_001302998.2(LIPI):c.918A>G (p.Leu306=)	LIPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2335555	NM_001302998.2(LIPI):c.896G>A (p.Arg299Gln)	LIPI (R269Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2137707	NM_001302998.2(LIPI):c.895C>T (p.Arg299Trp)	LIPI (R134W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941878	NM_001302998.2(LIPI):c.890G>A (p.Cys297Tyr)	LIPI (C132Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718788	NM_001302998.2(LIPI):c.856T>C (p.Cys286Arg)	LIPI (C256R +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1945172	NM_001302998.2(LIPI):c.843C>T (p.Tyr281=)	LIPI	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1597671	NM_001302998.2(LIPI):c.827G>T (p.Arg276Leu)	LIPI (R111L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1418876	NM_001302998.2(LIPI):c.827G>A (p.Arg276His)	LIPI (R231H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3119084	NM_001302998.2(LIPI):c.805A>G (p.Asn269Asp)	LIPI (N224D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513673	NM_001302998.2(LIPI):c.797C>T (p.Thr266Ile)	LIPI (T221I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407940	NM_001302998.2(LIPI):c.745A>G (p.Ile249Val)	LIPI (I204V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2957328	NM_001302998.2(LIPI):c.734-11dup	LIPI	Duplication (intron variant)	not provided	GBenign
Select item 1992155	NM_001302998.2(LIPI):c.734-11del	LIPI	Deletion (intron variant)	not provided	GBenign
Select item 1548042	NM_001302998.2(LIPI):c.734-16T>C	LIPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2187226	NM_001302998.2(LIPI):c.733+6C>G	LIPI	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3290828	NM_001302998.2(LIPI):c.713G>C (p.Cys238Ser)	LIPI (C193S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515552	NM_001302998.2(LIPI):c.703C>A (p.Gln235Lys)	LIPI (Q235K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591692	NM_001302998.2(LIPI):c.694G>A (p.Gly232Arg)	LIPI (G67R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2825331	NM_001302998.2(LIPI):c.676G>A (p.Asp226Asn)	LIPI (D61N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3017215	NM_001302998.2(LIPI):c.652A>C (p.Ile218Leu)	LIPI (I173L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1361333	NM_001302998.2(LIPI):c.644-2A>G	LIPI	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 1588560	NM_001302998.2(LIPI):c.644-6T>C	LIPI	Single nucleotide variant (intron variant)	LIPI-related disorder +1 more	GLikely benign
Select item 1536110	NM_001302998.2(LIPI):c.644-16G>A	LIPI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616824	NM_001302998.2(LIPI):c.643+1358A>G	LIPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1617454	NM_001302998.2(LIPI):c.643+13G>A	LIPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2983311	NM_001302998.2(LIPI):c.633T>C (p.Ser211=)	LIPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309697	NM_001302998.2(LIPI):c.627C>G (p.Ile209Met)	LIPI (I44M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2727580	NM_001302998.2(LIPI):c.603G>A (p.Thr201=)	LIPI	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702474	NM_001302998.2(LIPI):c.602C>T (p.Thr201Met)	LIPI (T201M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729985	NM_001302998.2(LIPI):c.601A>G (p.Thr201Ala)	LIPI (T201A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2237773	NM_001302998.2(LIPI):c.590G>A (p.Arg197Lys)	LIPI (R197K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2983846	NM_001302998.2(LIPI):c.568T>C (p.Ser190Pro)	LIPI (S25P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912206	NM_001302998.2(LIPI):c.565T>A (p.Phe189Ile)	LIPI (F144I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723558	NM_001302998.2(LIPI):c.565T>G (p.Phe189Val)	LIPI (F24V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501705	NM_001302998.2(LIPI):c.560C>G (p.Pro187Arg)	LIPI (P187R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188051	NM_001302998.2(LIPI):c.559C>A (p.Pro187Thr)	LIPI (P142T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2393227	NM_001302998.2(LIPI):c.553G>C (p.Ala185Pro)	LIPI (A140P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3005437	NM_001302998.2(LIPI):c.542-7T>A	LIPI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968922	NM_001302998.2(LIPI):c.542-14T>G	LIPI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645934	NM_001302998.2(LIPI):c.541+14T>G	LIPI	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2997909	NM_001302998.2(LIPI):c.541+6A>T	LIPI	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1525930	NM_001302998.2(LIPI):c.535dup (p.Ile179fs)	LIPI (I134fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1591613	NM_001302998.2(LIPI):c.521G>A (p.Gly174Asp)	LIPI (G129D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1674953	NM_001302998.2(LIPI):c.477C>T (p.Ser159=)	LIPI	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2728878	NM_001302998.2(LIPI):c.466A>G (p.Ile156Val)	LIPI (I111V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2054214	NM_001302998.2(LIPI):c.460C>G (p.His154Asp)	LIPI (H109D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3119083	NM_001302998.2(LIPI):c.455A>G (p.Asn152Ser)	LIPI (N152S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1998767	NM_001302998.2(LIPI):c.432+18A>C	LIPI	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3119082	NM_001302998.2(LIPI):c.403A>G (p.Ser135Gly)	LIPI (S135G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214878	NM_001302998.2(LIPI):c.394G>A (p.Val132Ile)	LIPI (V132I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373066	NM_001302998.2(LIPI):c.370A>G (p.Arg124Gly)	LIPI (R124G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483991	NM_001302998.2(LIPI):c.368A>G (p.Asn123Ser)	LIPI (N78S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1600670	NM_001302998.2(LIPI):c.352A>G (p.Thr118Ala)	LIPI (T118A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1535925	NM_001302998.2(LIPI):c.345_347dup (p.Gly116dup)	LIPI	Duplication (inframe_insertion +1 more)	not provided	GBenign
Select item 1571326	NM_001302998.2(LIPI):c.288C>T (p.Phe96=)	LIPI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987292	NM_001302998.2(LIPI):c.285C>T (p.Asn95=)	LIPI	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2064531	NM_001302998.2(LIPI):c.262T>C (p.Ser88Pro)	LIPI (S43P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1356194	NM_001302998.2(LIPI):c.229G>T (p.Val77Phe)	LIPI (V32F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2456914	NM_001302998.2(LIPI):c.218A>G (p.Gln73Arg)	LIPI (Q73R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2742023	NM_001302998.2(LIPI):c.204T>A (p.Val68=)	LIPI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1660314	NM_001302998.2(LIPI):c.195A>G (p.Ser65=)	LIPI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2698367	NM_001302998.2(LIPI):c.194C>G (p.Ser65Ter)	LIPI (S65* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1822	NM_001302998.2(LIPI):c.164G>A (p.Cys55Tyr)	LIPI (C55Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1576169	NM_001302998.2(LIPI):c.147A>G (p.Thr49=)	LIPI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1383095	NM_001302998.2(LIPI):c.143A>G (p.Tyr48Cys)	LIPI (Y48C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2116063	NM_001302998.2(LIPI):c.134T>A (p.Leu45Gln)	LIPI (L45Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2910662	NM_001302998.2(LIPI):c.117G>T (p.Pro39=)	LIPI	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2092905	NM_001302998.2(LIPI):c.93T>G (p.Asp31Glu)	LIPI (D31E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3008069	NM_001302998.2(LIPI):c.46+3960G>A	LIPI	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2047738	NM_001302998.2(LIPI):c.46+3946dup	LIPI	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance

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