LIPH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC126806887, LOC126806888 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 152989	GRCh38/hg38 3q27.2(chr3:185151277-185558406)x1	C3orf70, EHHADH +22 more	Copy number loss	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	GPathogenic
Select item 144319	GRCh38/hg38 3q27.2(chr3:185506271-185977882)x1	IGF2BP2, IGF2BP2-AS1 +15 more	Copy number loss	See cases	GPathogenic
Select item 1179532	NM_139248.3(LIPH):c.*182T>C	LIPH	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1178899	NM_139248.3(LIPH):c.*86G>A	LIPH	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2170244	NM_139248.3(LIPH):c.1297C>T (p.Leu433=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1277965	NM_139248.3(LIPH):c.1269-243C>T	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288941	NM_139248.3(LIPH):c.1268+260T>C	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2510895	NM_139248.3(LIPH):c.1262C>T (p.Pro421Leu)	LIPH (P421L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2128415	NM_139248.3(LIPH):c.1214G>A (p.Arg405Lys)	LIPH (R405K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189956	NM_139248.3(LIPH):c.1200T>C (p.Ser400=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403394	NM_139248.3(LIPH):c.1148A>G (p.Asn383Ser)	LIPH (N383S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288240	NM_139248.3(LIPH):c.1135C>T (p.Leu379Phe)	LIPH (L379F)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1228610	NM_139248.3(LIPH):c.1116A>G (p.Lys372=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2960052	NM_139248.3(LIPH):c.1095-7C>T	LIPH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240580	NM_139248.3(LIPH):c.1095-272G>A	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3304	NM_139248.3(LIPH):c.886+405_1094+962del	LIPH	Deletion (splice acceptor variant +1 more)	Hypotrichosis 7 +1 more	GPathogenic
Select item 1281519	NM_139248.3(LIPH):c.1094+29C>T	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1958880	NM_139248.3(LIPH):c.1053G>A (p.Leu351=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919509	NM_139248.3(LIPH):c.1023T>C (p.Asn341=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037509	NM_139248.3(LIPH):c.1008A>G (p.Ile336Met)	LIPH (I336M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3119079	NM_139248.3(LIPH):c.997G>A (p.Val333Met)	LIPH (V333M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1251339	NM_139248.3(LIPH):c.983-340A>G	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2756187	NM_139248.3(LIPH):c.982+17del	LIPH	Deletion (intron variant)	not provided	GLikely benign
Select item 2075731	NM_139248.3(LIPH):c.919A>C (p.Arg307=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712075	NM_139248.3(LIPH):c.917T>C (p.Leu306Pro)	LIPH (L306P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3064369	NM_139248.3(LIPH):c.899A>C (p.Asp300Ala)	LIPH (D300A)	Single nucleotide variant (missense variant)	Hypotrichosis 7	GUncertain significance
Select item 1234223	NM_139248.3(LIPH):c.887-171T>C	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280095	NM_139248.3(LIPH):c.887-276C>A	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2603390	NM_139248.3(LIPH):c.869A>G (p.Glu290Gly)	LIPH (E290G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266459	NM_139248.3(LIPH):c.863A>T (p.Gln288Leu)	LIPH (Q288L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2892524	NM_139248.3(LIPH):c.858G>A (p.Thr286=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068914	NM_139248.3(LIPH):c.857C>T (p.Thr286Met)	LIPH (T286M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015883	NM_139248.3(LIPH):c.852C>T (p.Cys284=)	LIPH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 280544	NM_139248.3(LIPH):c.789del (p.Ser262_Cys263insTer)	LIPH	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 30669	NM_139248.3(LIPH):c.742C>A (p.His248Asn)	LIPH (H248N)	Single nucleotide variant (missense variant)	Hypotrichosis 7	GLikely pathogenic
Select item 225403	NM_139248.3(LIPH):c.736T>A (p.Cys246Ser)	LIPH (C246S)	Single nucleotide variant (missense variant)	Hypotrichosis simplex +1 more	GPathogenic/Likely pathogenic
Select item 2713589	NM_139248.3(LIPH):c.719-5C>G	LIPH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280015	NM_139248.3(LIPH):c.719-306A>G	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251839	NM_139248.3(LIPH):c.718+267del	LIPH	Deletion (intron variant)	not provided	GBenign
Select item 1267397	NM_139248.3(LIPH):c.718+213C>T	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3119078	NM_139248.3(LIPH):c.667T>C (p.Tyr223His)	LIPH (Y223H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3303	NM_139248.3(LIPH):c.659_660del (p.Ile220fs)	LIPH (I220fs)	Deletion (frameshift variant)	LIPH-related disorder +1 more	GPathogenic
Select item 2344530	NM_139248.3(LIPH):c.650T>C (p.Leu217Ser)	LIPH (L217S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1243346	NM_139248.3(LIPH):c.629-264C>T	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248266	NM_139248.3(LIPH):c.629-280G>A	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230757	NM_139248.3(LIPH):c.628+313T>C	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3119077	NM_139248.3(LIPH):c.607G>A (p.Val203Ile)	LIPH (V203I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3119076	NM_139248.3(LIPH):c.550T>C (p.Phe184Leu)	LIPH (F184L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383263	NM_139248.3(LIPH):c.539C>G (p.Ala180Gly)	LIPH (A180G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285011	NM_139248.3(LIPH):c.510G>T (p.Trp170Cys)	LIPH (W170C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2886020	NM_139248.3(LIPH):c.453C>T (p.Ile151=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112607	NM_139248.3(LIPH):c.424G>A (p.Gly142Arg)	LIPH (G142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289659	NM_139248.3(LIPH):c.418-271G>T	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2366508	NM_139248.3(LIPH):c.408C>A (p.Asp136Glu)	LIPH (D136E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398479	NM_139248.3(LIPH):c.400T>C (p.Phe134Leu)	LIPH (F134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306	NM_139248.3(LIPH):c.280_369dup (p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnValValValValAspTrpAsnArgGlyAlaThrThrLeuIleTyrThrHisAlaSerSerLys)	LIPH	Duplication (inframe_insertion)	not provided	GPathogenic
Select item 2486554	NM_139248.3(LIPH):c.356A>G (p.His119Arg)	LIPH (H119R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063666	NM_139248.3(LIPH):c.351T>C (p.Tyr117=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3302	NM_139248.3(LIPH):c.346_350del (p.Ile116fs)	LIPH (I116fs)	Deletion (frameshift variant)	Hypotrichosis 7	GPathogenic
Select item 2467511	NM_139248.3(LIPH):c.329G>A (p.Arg110Gln)	LIPH (R110Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1903203	NM_139248.3(LIPH):c.329G>T (p.Arg110Leu)	LIPH (R110L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 280138	NM_139248.3(LIPH):c.328C>T (p.Arg110Ter)	LIPH (R110*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3305	NM_139248.3(LIPH):c.322T>C (p.Trp108Arg)	LIPH (W108R)	Single nucleotide variant (missense variant)	Woolly hair, autosomal recessive 2, with or without hypotrichosis	GPathogenic
Select item 2414732	NM_139248.3(LIPH):c.312T>C (p.Val104=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654330	NM_139248.3(LIPH):c.306C>T (p.Asn102=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494938	NM_139248.3(LIPH):c.263T>A (p.Met88Lys)	LIPH (M88K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047329	NM_139248.3(LIPH):c.258T>C (p.Val86=)	LIPH	Single nucleotide variant (synonymous variant)	LIPH-related disorder	GLikely benign
Select item 3119075	NM_139248.3(LIPH):c.212C>T (p.Thr71Ile)	LIPH (T71I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2056674	NM_139248.3(LIPH):c.198T>C (p.Asn66=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063738	NM_139248.3(LIPH):c.159C>T (p.Cys53=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2608201	NM_139248.3(LIPH):c.140C>T (p.Thr47Ile)	LIPH (T47I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729994	NM_139248.3(LIPH):c.121G>A (p.Val41Met)	LIPH (V41M)	Single nucleotide variant (missense variant)	LIPH-related disorder +1 more	GBenign
Select item 2611113	NM_139248.3(LIPH):c.103G>T (p.Val35Phe)	LIPH (V35F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2056690	NM_139248.3(LIPH):c.51C>T (p.Asp17=)	LIPH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1181525	NM_139248.3(LIPH):c.50-175A>G	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288470	NM_139248.3(LIPH):c.50-338A>C	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987619	NM_139248.3(LIPH):c.49+15A>G	LIPH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3067817	GRCh37/hg19 3q27.2(chr3:185241859-185241948)x0	LIPH	Copy number loss	not provided	GUncertain significance
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic

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