LORICRIN[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 147363	GRCh38/hg38 1q21.3(chr1:152951169-153495655)x3	LELP1, LOC101928009 +33 more	Copy number gain	See cases	GUncertain significance
Select item 2052502	NM_000427.3(LORICRIN):c.55A>G (p.Thr19Ala)	LORICRIN (T19A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2050521	NM_000427.3(LORICRIN):c.72_95del (p.Gly26_Gly33del)	LORICRIN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2081646	NM_000427.3(LORICRIN):c.69TGGCGG[4] (p.Gly28_Ser29insGlyGlyGlyGly)	LORICRIN	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2002883	NM_000427.3(LORICRIN):c.69TGGCGG[3] (p.Gly28_Ser29insGlyGly)	LORICRIN	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2485230	NM_000427.3(LORICRIN):c.67G>A (p.Gly23Ser)	LORICRIN (G23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2418200	NM_000427.3(LORICRIN):c.76GGC[6] (p.Gly28_Ser29insGlyGlyGly)	LORICRIN	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2844998	NM_000427.3(LORICRIN):c.82G>A (p.Gly28Ser)	LORICRIN (G28S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1262705	NM_000427.3(LORICRIN):c.85A>G (p.Ser29Gly)	LORICRIN (S29G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 587580	NM_000427.3(LORICRIN):c.112GGC[5] (p.Gly41dup)	LORICRIN	Microsatellite (inframe_insertion)	Loricrin keratoderma +1 more	GConflicting classifications of pathogenicity
Select item 3119563	NM_000427.3(LORICRIN):c.115G>C (p.Gly39Arg)	LORICRIN (G39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119564	NM_000427.3(LORICRIN):c.121G>T (p.Gly41Cys)	LORICRIN (G41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2754030	NM_000427.3(LORICRIN):c.144T>C (p.Gly48=)	LORICRIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266330	NM_000427.3(LORICRIN):c.153C>T (p.Cys51=)	LORICRIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2596305	NM_000427.3(LORICRIN):c.175T>C (p.Tyr59His)	LORICRIN (Y59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582862	NM_000427.3(LORICRIN):c.180T>G (p.Ser60=)	LORICRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976953	NM_000427.3(LORICRIN):c.190T>G (p.Cys64Gly)	LORICRIN (C64G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3119565	NM_000427.3(LORICRIN):c.230T>C (p.Ile77Thr)	LORICRIN (I77T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470823	NM_000427.3(LORICRIN):c.253G>C (p.Gly85Arg)	LORICRIN (G85R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736227	NM_000427.3(LORICRIN):c.255T>A (p.Gly85=)	LORICRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3119566	NM_000427.3(LORICRIN):c.260G>A (p.Ser87Asn)	LORICRIN (S87N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2895142	NM_000427.3(LORICRIN):c.275_276insCGGCGGCGGCTCCTCCGG (p.Gly100_Ser101insGlySerSerGlyGlyGly)	LORICRIN	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 3119567	NM_000427.3(LORICRIN):c.271T>A (p.Ser91Thr)	LORICRIN (S91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2035667	NM_000427.3(LORICRIN):c.272C>T (p.Ser91Phe)	LORICRIN (S91F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1012540	NM_000427.3(LORICRIN):c.272C>G (p.Ser91Cys)	LORICRIN (S91C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1226814	NM_000427.3(LORICRIN):c.276A>C (p.Gly92=)	LORICRIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777329	NM_000427.3(LORICRIN):c.276A>G (p.Gly92=)	LORICRIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2466925	NM_000427.3(LORICRIN):c.277G>A (p.Gly93Ser)	LORICRIN (G93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2039388	NM_000427.3(LORICRIN):c.288_302dup (p.Ser101_Gly102insSerGlyGlyGlySer)	LORICRIN	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 3119568	NM_000427.3(LORICRIN):c.305G>C (p.Gly102Ala)	LORICRIN (G102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2884256	NM_000427.3(LORICRIN):c.351_440del (p.Ser121_Gly150del)	LORICRIN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2060019	NM_000427.3(LORICRIN):c.323G>C (p.Gly108Ala)	LORICRIN (G108A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2877265	NM_000427.3(LORICRIN):c.344C>T (p.Ser115Phe)	LORICRIN (S115F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2540252	NM_000427.3(LORICRIN):c.352G>A (p.Gly118Ser)	LORICRIN (G118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2202746	NM_000427.3(LORICRIN):c.391_435del (p.121SSGGGSGCFSSGGGG[1])	LORICRIN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3119569	NM_000427.3(LORICRIN):c.358G>A (p.Gly120Ser)	LORICRIN (G120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119570	NM_000427.3(LORICRIN):c.362C>T (p.Ser121Phe)	LORICRIN (S121F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2067803	NM_000427.3(LORICRIN):c.409_423del (p.Ser137_Ser141del)	LORICRIN	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2104996	NM_000427.3(LORICRIN):c.400G>A (p.Gly134Ser)	LORICRIN (G134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3119571	NM_000427.3(LORICRIN):c.424G>C (p.Gly142Arg)	LORICRIN (G142R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119572	NM_000427.3(LORICRIN):c.425G>A (p.Gly142Asp)	LORICRIN (G142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2910672	NM_000427.3(LORICRIN):c.439G>T (p.Gly147Cys)	LORICRIN (G147C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2524031	NM_000427.3(LORICRIN):c.445G>T (p.Gly149Cys)	LORICRIN (G149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2712439	NM_000427.3(LORICRIN):c.466G>C (p.Val156Leu)	LORICRIN (V156L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 740338	NM_000427.3(LORICRIN):c.483C>T (p.Tyr161=)	LORICRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810236	NM_000427.3(LORICRIN):c.484G>T (p.Gly162Ter)	LORICRIN (G162*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 792927	NM_000427.3(LORICRIN):c.486A>G (p.Gly162=)	LORICRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074000	NM_000427.3(LORICRIN):c.506C>T (p.Ser169Phe)	LORICRIN (S169F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1805407	NM_000427.3(LORICRIN):c.515dup (p.Gly173fs)	LORICRIN (G173fs)	Duplication (frameshift variant)	Loricrin keratoderma	GPathogenic
Select item 3119573	NM_000427.3(LORICRIN):c.557T>G (p.Val186Gly)	LORICRIN (V186G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2092231	NM_000427.3(LORICRIN):c.561_566delinsGCGGCGG (p.Cys187fs)	LORICRIN (C187fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1241091	NM_000427.3(LORICRIN):c.574_585dup (p.Gly192_Gly195dup)	LORICRIN	Duplication (inframe_insertion)	not provided	GBenign
Select item 2990137	NM_000427.3(LORICRIN):c.586T>G (p.Cys196Gly)	LOC129931468, LORICRIN (C196G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3119574	NM_000427.3(LORICRIN):c.589G>A (p.Gly197Ser)	LOC129931468, LORICRIN (G197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048924	NM_000427.3(LORICRIN):c.619G>A (p.Gly207Ser)	LOC129931468, LORICRIN (G207S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982193	NM_000427.3(LORICRIN):c.619G>T (p.Gly207Cys)	LOC129931468, LORICRIN (G207C)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 1324671	NM_000427.3(LORICRIN):c.624C>G (p.Tyr208Ter)	LORICRIN (Y208*)	Single nucleotide variant (nonsense)	Loricrin keratoderma	GLikely pathogenic
Select item 2621065	NM_000427.3(LORICRIN):c.632C>T (p.Ser211Leu)	LORICRIN (S211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2188703	NM_000427.3(LORICRIN):c.653C>T (p.Ser218Leu)	LORICRIN (S218L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14419	NM_000427.3(LORICRIN):c.664dup (p.Gln222fs)	LORICRIN (Q222fs)	Duplication (frameshift variant)	Loricrin keratoderma	GPathogenic
Select item 817409	NM_000427.3(LORICRIN):c.673dup (p.Tyr225fs)	LORICRIN (Y225fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 279841	NM_000427.3(LORICRIN):c.684dup (p.Ser229fs)	LORICRIN (S229fs)	Duplication (frameshift variant)	Loricrin keratoderma +1 more	GPathogenic
Select item 3119575	NM_000427.3(LORICRIN):c.698G>A (p.Gly233Asp)	LORICRIN (G233D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2856853	NM_000427.3(LORICRIN):c.707G>A (p.Gly236Asp)	LORICRIN (G236D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000734	NM_000427.3(LORICRIN):c.719G>A (p.Cys240Tyr)	LORICRIN (C240Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864435	NM_000427.3(LORICRIN):c.728G>C (p.Ser243Thr)	LORICRIN (S243T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2431419	NM_000427.3(LORICRIN):c.736G>C (p.Gly246Arg)	LORICRIN (G246R)	Single nucleotide variant (missense variant)	Loricrin keratoderma	GUncertain significance
Select item 3119576	NM_000427.3(LORICRIN):c.737G>A (p.Gly246Asp)	LORICRIN (G246D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1896901	NM_000427.3(LORICRIN):c.740G>C (p.Gly247Ala)	LORICRIN (G247A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053557	NM_000427.3(LORICRIN):c.750C>T (p.Ser250=)	LORICRIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639347	NM_000427.3(LORICRIN):c.763G>T (p.Gly255Cys)	LORICRIN (G255C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2579955	NM_000427.3(LORICRIN):c.806dup (p.Ser270fs)	LORICRIN (S270fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2464240	NM_000427.3(LORICRIN):c.806G>A (p.Gly269Asp)	LORICRIN (G269D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2715535	NM_000427.3(LORICRIN):c.835GGC[7] (p.Gly283_Ser284insGlyGly)	LORICRIN	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1049465	NM_000427.3(LORICRIN):c.835GGC[6] (p.Gly283dup)	LORICRIN	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2524397	NM_000427.3(LORICRIN):c.838G>A (p.Gly280Ser)	LORICRIN (G280S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119577	NM_000427.3(LORICRIN):c.851C>T (p.Ser284Phe)	LORICRIN (S284F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709688	NM_000427.3(LORICRIN):c.854C>T (p.Ser285Phe)	LORICRIN (S285F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1961558	NM_000427.3(LORICRIN):c.860G>A (p.Gly287Asp)	LORICRIN (G287D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3119578	NM_000427.3(LORICRIN):c.863G>T (p.Gly288Val)	LORICRIN (G288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1220745	NM_000427.3(LORICRIN):c.870G>A (p.Gly290=)	LORICRIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739827	NM_000427.3(LORICRIN):c.874G>A (p.Gly292Ser)	LORICRIN (G292S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3119579	NM_000427.3(LORICRIN):c.896A>C (p.His299Pro)	LORICRIN (H299P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119580	NM_000427.3(LORICRIN):c.919C>G (p.Pro307Ala)	LORICRIN (P307A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119581	NM_000427.3(LORICRIN):c.932C>T (p.Ser311Phe)	LORICRIN (S311F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280160	NC_000001.11:g.153262126T>C	LORICRIN	Single nucleotide variant	not provided	GBenign
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685827	GRCh37/hg19 1q21.3(chr1:153097950-153481118)x3	LELP1, LORICRIN +9 more	Copy number gain	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1809281	GRCh37/hg19 1q21.3(chr1:152648864-153286218)x3	C1orf68, IVL +27 more	Copy number gain	not provided	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	EFNA3, EFNA4 +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 979294	GRCh37/hg19 1q21.3(chr1:153007105-153463223)x3	SPRR2E, S100A7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 814129	GRCh37/hg19 1q21.3(chr1:153061323-153904594)x3	SPRR2F, SPRR2G +29 more	Copy number gain	not provided	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 99