LPO[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 781371	NM_006151.3(LPO):c.30C>G (p.Leu10=)	LPO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2342051	NM_006151.3(LPO):c.158G>A (p.Arg53Gln)	LPO (R53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783793	NM_006151.3(LPO):c.164+9_164+12del	LPO	Deletion (intron variant)	not provided	GBenign
Select item 770270	NM_006151.3(LPO):c.164+9G>C	LPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403046	NM_006151.3(LPO):c.164+10AC[22]	LPO	Microsatellite (intron variant)	not specified	GBenign
Select item 2275019	NM_006151.3(LPO):c.239G>A (p.Arg80Gln)	LPO (R80Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3119797	NM_006151.3(LPO):c.244C>T (p.Arg82Cys)	LPO (R82C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 781372	NM_006151.3(LPO):c.314C>T (p.Thr105Ile)	LPO (T105I)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2233072	NM_006151.3(LPO):c.368G>A (p.Cys123Tyr)	LPO (C123Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620269	NM_006151.3(LPO):c.382C>G (p.Pro128Ala)	LPO (P45A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119798	NM_006151.3(LPO):c.436A>C (p.Asn146His)	LPO (N63H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291198	NM_006151.3(LPO):c.482C>A (p.Ala161Glu)	LPO (A161E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119799	NM_006151.3(LPO):c.548C>A (p.Thr183Lys)	LPO (T183K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119800	NM_006151.3(LPO):c.557G>A (p.Gly186Asp)	LPO (G186D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321580	NM_006151.3(LPO):c.692C>T (p.Ala231Val)	LPO (A148V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357912	NM_006151.3(LPO):c.773C>T (p.Pro258Leu)	LPO (P175L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274573	NM_006151.3(LPO):c.818A>C (p.Lys273Thr)	LPO (K273T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412328	NM_006151.3(LPO):c.890T>A (p.Ile297Asn)	LPO (I214N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119801	NM_006151.3(LPO):c.937G>A (p.Glu313Lys)	LPO (E230K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790724	NM_006151.3(LPO):c.1032G>T (p.Leu344=)	LPO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2344970	NM_006151.3(LPO):c.1037A>G (p.Tyr346Cys)	LPO (Y346C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268752	NM_006151.3(LPO):c.1051C>T (p.Pro351Ser)	LPO (P268S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712294	NM_006151.3(LPO):c.1122A>C (p.Ser374=)	LPO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2338696	NM_006151.3(LPO):c.1130T>C (p.Ile377Thr)	LPO (I294T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119791	NM_006151.3(LPO):c.1173C>A (p.Asn391Lys)	LPO (N308K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207148	NM_006151.3(LPO):c.1201A>C (p.Asn401His)	LPO (N401H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489895	NM_006151.3(LPO):c.1240C>T (p.Arg414Trp)	LPO (R331W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291200	NM_006151.3(LPO):c.1280G>A (p.Arg427Lys)	LPO (R344K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291199	NM_006151.3(LPO):c.1411G>A (p.Val471Ile)	LPO (V388I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206765	NM_006151.3(LPO):c.1418C>A (p.Ser473Tyr)	LPO (S473Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476566	NM_006151.3(LPO):c.1490T>C (p.Phe497Ser)	LPO (F414S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119792	NM_006151.3(LPO):c.1499C>G (p.Thr500Ser)	LPO (T417S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119793	NM_006151.3(LPO):c.1604G>A (p.Arg535His)	LPO (R452H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291197	NM_006151.3(LPO):c.1624A>G (p.Thr542Ala)	LPO (T459A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549235	NM_006151.3(LPO):c.1630A>G (p.Arg544Gly)	LPO (R461G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119794	NM_006151.3(LPO):c.1676G>A (p.Arg559Gln)	LPO (R559Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370481	NM_006151.3(LPO):c.1733C>T (p.Pro578Leu)	LPO (P578L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219255	NM_006151.3(LPO):c.1868G>A (p.Arg623Gln)	LPO (R540Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781308	NM_006151.3(LPO):c.1931+10T>C	LPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2482994	NM_006151.3(LPO):c.1947C>A (p.Asn649Lys)	LPO (N566K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119795	NM_006151.3(LPO):c.1975G>T (p.Asp659Tyr)	LPO (D659Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467297	NM_006151.3(LPO):c.1976A>G (p.Asp659Gly)	LPO (D576G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555907	NM_006151.3(LPO):c.1981C>G (p.Leu661Val)	LPO (L661V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473375	NM_006151.3(LPO):c.1985A>T (p.Gln662Leu)	LPO (Q579L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3119796	NM_006151.3(LPO):c.2003G>A (p.Arg668His)	LPO (R668H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291196	NM_006151.3(LPO):c.2080G>A (p.Val694Met)	LPO (V611M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337454	NM_006151.3(LPO):c.2080G>T (p.Val694Leu)	LPO (V611L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3632	NM_000250.2(MPO):c.2031-2A>C	LPO, MPO	Single nucleotide variant (splice acceptor variant)	Myeloperoxidase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 3628	NM_000250.2(MPO):c.752T>C (p.Met251Thr)	LPO, MPO (M251T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3242218	Single allele	ABCC3, ABI3 +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	AARSD1, AATF +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2429783	NC_000017.10:g.(?_55806534)_(56540597_?)del	CUEDC1, DYNLL2 +14 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 253345	GRCh37/hg19 17q22(chr17:55916829-56770618)x1	MKS1, DYNLL2 +19 more	Copy number loss	See cases	GLikely pathogenic

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Items: 64