LIPN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 57094	GRCh38/hg38 10q23.31(chr10:88439108-88978831)x3	ACTA2, ACTA2-AS1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 1250174	NM_001102469.2(LIPN):c.-8-308T>G	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2541208	NM_001102469.2(LIPN):c.35T>C (p.Ile12Thr)	LIPN (I12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1484897	NM_001102469.2(LIPN):c.49A>G (p.Asn17Asp)	LIPN (N17D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2501104	NM_001102469.2(LIPN):c.58G>T (p.Gly20Ter)	LIPN (G20*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3119110	NM_001102469.2(LIPN):c.64C>G (p.Leu22Val)	LIPN (L22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698464	NM_001102469.2(LIPN):c.108+1G>A	LIPN	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 3010792	NM_001102469.2(LIPN):c.108+5G>C	LIPN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1228278	NM_001102469.2(LIPN):c.108+206CTAT[12]	LIPN	Microsatellite (intron variant)	not provided	GBenign
Select item 1277287	NM_001102469.2(LIPN):c.108+206CTAT[9]	LIPN	Microsatellite (intron variant)	not provided	GBenign
Select item 1246521	NM_001102469.2(LIPN):c.108+206CTAT[10]	LIPN	Microsatellite (intron variant)	not provided	GBenign
Select item 1242496	NM_001102469.2(LIPN):c.108+206CTAT[8]	LIPN	Microsatellite (intron variant)	not provided	GBenign
Select item 1242906	NM_001102469.2(LIPN):c.108+250_108+257del	LIPN	Deletion (intron variant)	not provided	GBenign
Select item 1264290	NM_001102469.2(LIPN):c.108+250_108+253del	LIPN	Deletion (intron variant)	not provided	GBenign
Select item 1220835	NM_001102469.2(LIPN):c.108+250G>C	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238416	NM_001102469.2(LIPN):c.108+267TATC[3]	LIPN	Microsatellite (intron variant)	not provided	GBenign
Select item 1264185	NM_001102469.2(LIPN):c.109-329G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2522563	NM_001102469.2(LIPN):c.109A>G (p.Ser37Gly)	LIPN (S37G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207633	NM_001102469.2(LIPN):c.110G>A (p.Ser37Asn)	LIPN (S37N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119105	NM_001102469.2(LIPN):c.149A>G (p.Tyr50Cys)	LIPN (Y50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411046	NM_001102469.2(LIPN):c.173A>G (p.Tyr58Cys)	LIPN (Y58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119106	NM_001102469.2(LIPN):c.222C>G (p.Ser74Arg)	LIPN (S74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1946543	NM_001102469.2(LIPN):c.226+13T>C	LIPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232951	NM_001102469.2(LIPN):c.226+120T>C	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3290836	NM_001102469.2(LIPN):c.229C>T (p.Pro77Ser)	LIPN (P77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290835	NM_001102469.2(LIPN):c.232C>T (p.Arg78Trp)	LIPN (R78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1804712	NM_001102469.2(LIPN):c.246T>G (p.Tyr82Ter)	LIPN (Y82*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1315269	NM_001102469.2(LIPN):c.293A>T (p.Tyr98Phe)	LIPN (Y98F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1238700	NM_001102469.2(LIPN):c.297T>C (p.Ala99=)	LIPN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2258837	NM_001102469.2(LIPN):c.301G>A (p.Gly101Arg)	LIPN (G101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731662	NM_001102469.2(LIPN):c.302del (p.Gly101fs)	LIPN (G101fs)	Deletion (frameshift variant)	not specified +1 more	GLikely benign
Select item 3119107	NM_001102469.2(LIPN):c.308T>C (p.Leu103Pro)	LIPN (L103P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267518	NM_001102469.2(LIPN):c.325G>A (p.Asp109Asn)	LIPN (D109N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527562	NM_001102469.2(LIPN):c.335A>T (p.Tyr112Phe)	LIPN (Y112F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3119108	NM_001102469.2(LIPN):c.340G>A (p.Val114Ile)	LIPN (V114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119109	NM_001102469.2(LIPN):c.355A>T (p.Ser119Cys)	LIPN (S119C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2702967	NM_001102469.2(LIPN):c.358C>A (p.Arg120=)	LIPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1557859	NM_001102469.2(LIPN):c.395C>T (p.Ser132Leu)	LIPN (S132L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 31088	NM_001102469.2(LIPN):c.399_400del (p.Glu133fs)	LIPN (E133fs)	Microsatellite (frameshift variant)	Lamellar ichthyosis	GPathogenic
Select item 1252290	NM_001102469.2(LIPN):c.425+47A>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231531	NM_001102469.2(LIPN):c.425+91G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257628	NM_001102469.2(LIPN):c.425+178G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237416	NM_001102469.2(LIPN):c.426-234C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2419798	NM_001102469.2(LIPN):c.446A>G (p.Tyr149Cys)	LIPN (Y149C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2467526	NM_001102469.2(LIPN):c.495G>T (p.Glu165Asp)	LIPN (E165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325533	NM_001102469.2(LIPN):c.520C>G (p.Leu174Val)	LIPN (L174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233737	NM_001102469.2(LIPN):c.535+3A>G	LIPN	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1232479	NM_001102469.2(LIPN):c.535+210T>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282002	NM_001102469.2(LIPN):c.535+244C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276467	NM_001102469.2(LIPN):c.536-50C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1631802	NM_001102469.2(LIPN):c.536-15C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1343518	NM_001102469.2(LIPN):c.599G>A (p.Gly200Asp)	LIPN (G200D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1263602	NM_001102469.2(LIPN):c.672+307G>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 739425	NM_001102469.2(LIPN):c.673-4A>G	LIPN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2505726	NM_001102469.2(LIPN):c.683G>C (p.Gly228Ala)	LIPN (G228A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2596658	NM_001102469.2(LIPN):c.708T>G (p.Asp236Glu)	LIPN (D236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119111	NM_001102469.2(LIPN):c.715A>G (p.Thr239Ala)	LIPN (T239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773236	NM_001102469.2(LIPN):c.723A>T (p.Ile241=)	LIPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1270910	NM_001102469.2(LIPN):c.731C>A (p.Thr244Asn)	LIPN (T244N)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 8 +1 more	GBenign
Select item 2538483	NM_001102469.2(LIPN):c.740G>A (p.Cys247Tyr)	LIPN (C247Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776524	NM_001102469.2(LIPN):c.754C>T (p.Leu252Phe)	LIPN (L252F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 759954	NM_001102469.2(LIPN):c.771C>T (p.Ser257=)	LIPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778467	NM_001102469.2(LIPN):c.772G>A (p.Glu258Lys)	LIPN (E258K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2560410	NM_001102469.2(LIPN):c.775T>A (p.Phe259Ile)	LIPN (F259I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1237324	NM_001102469.2(LIPN):c.819+182C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235164	NM_001102469.2(LIPN):c.820-145A>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269347	NM_001102469.2(LIPN):c.820-95G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600974	NM_001102469.2(LIPN):c.820-20A>C	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2373005	NM_001102469.2(LIPN):c.824G>A (p.Arg275Gln)	LIPN (R275Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1630043	NM_001102469.2(LIPN):c.834G>A (p.Val278=)	LIPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076370	NM_001102469.2(LIPN):c.873C>T (p.Asn291=)	LIPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1259527	NM_001102469.2(LIPN):c.892-151G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267373	NM_001102469.2(LIPN):c.892-90G>A	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273885	NM_001102469.2(LIPN):c.892-62T>G	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250088	NM_001102469.2(LIPN):c.892-35C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247982	NM_001102469.2(LIPN):c.936C>T (p.Asp312=)	LIPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2315714	NM_001102469.2(LIPN):c.960T>A (p.Asn320Lys)	LIPN (N320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262091	NM_001102469.2(LIPN):c.963+48A>G	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260491	NM_001102469.2(LIPN):c.963+120T>C	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233148	NM_001102469.2(LIPN):c.964-34C>T	LIPN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3040042	NM_001102469.2(LIPN):c.964-4A>G	LIPN	Single nucleotide variant (intron variant)	LIPN-related disorder	GLikely benign
Select item 2512124	NM_001102469.2(LIPN):c.999A>C (p.Lys333Asn)	LIPN (K333N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2886593	NM_001102469.2(LIPN):c.1027C>T (p.His343Tyr)	LIPN (H343Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964882	NM_001102469.2(LIPN):c.1030G>A (p.Asp344Asn)	LIPN (D344N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2350462	NM_001102469.2(LIPN):c.1039G>A (p.Val347Ile)	LIPN (V347I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3119104	NM_001102469.2(LIPN):c.1045C>T (p.Pro349Ser)	LIPN (P349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290837	NM_001102469.2(LIPN):c.1051G>T (p.Asp351Tyr)	LIPN (D351Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774557	NM_001102469.2(LIPN):c.1062G>C (p.Arg354Ser)	LIPN (R354S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1705065	NM_001102469.2(LIPN):c.1092C>A (p.Tyr364Ter)	LIPN (Y364*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2750506	NM_001102469.2(LIPN):c.1100T>G (p.Leu367Arg)	LIPN (L367R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774684	NM_001102469.2(LIPN):c.1108G>T (p.Asp370Tyr)	LIPN (D370Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2691665	NM_001102469.2(LIPN):c.1112G>A (p.Trp371Ter)	LIPN (W371*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2617491	NM_001102469.2(LIPN):c.1129G>T (p.Val377Phe)	LIPN (V377F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1263873	NM_001102469.2(LIPN):c.1140C>T (p.Leu380=)	LIPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1242299	NM_001102469.2(LIPN):c.*21A>G	LIPN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3244832	NC_000010.10:g.(?_90332640)_(91222335_?)dup	LIPM, LIPN +17 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic

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