LIPI[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 236548	GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)	LOC125418053, LOC125418054 +219 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59220	GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3	ASMER1, BTG3 +118 more	Copy number gain	See cases	GPathogenic
Select item 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
Select item 146040	GRCh38/hg38 21q11.2(chr21:13399449-14335064)x3	LINC01674, LIPI +14 more	Copy number gain	See cases	GUncertain significance
Select item 153628	GRCh38/hg38 21q11.2-21.1(chr21:13634136-18211199)x1	ASMER1, BTG3 +107 more	Copy number loss	See cases	GPathogenic
Select item 155682	GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1	ADAMTS1, ADAMTS5 +214 more	Copy number loss	See cases	GPathogenic
Select item 59225	GRCh38/hg38 21q11.2-21.1(chr21:13696993-21440046)x3	ASMER1, BTG3 +129 more	Copy number gain	See cases	GPathogenic
Select item 236549	GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)	HSPA13, JAM2 +209 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	ADAMTS1, ADAMTS5 +300 more	Copy number loss	See cases	GPathogenic
Select item 59006	GRCh38/hg38 21q11.2-21.1(chr21:14019847-18125051)x1	ASMER1, BTG3 +101 more	Copy number loss	See cases	GPathogenic
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 149204	GRCh38/hg38 21q11.2(chr21:14110251-14311064)x3	LIPI, LOC130066430 +3 more	Copy number gain	See cases	GUncertain significance
Select item 149825	GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1	ASMER1, BTG3 +121 more	Copy number loss	See cases	GPathogenic
Select item 59244	GRCh38/hg38 21q11.2-21.1(chr21:14127526-17193289)x3	ASMER1, HSPA13 +69 more	Copy number gain	See cases	GPathogenic
Select item 59007	GRCh38/hg38 21q11.2-21.1(chr21:14127526-19238720)x1	LOC130066455, LOC130066456 +102 more	Copy number loss	See cases	GPathogenic
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 specified +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)	not provided	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

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