4353[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +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 777205	NM_000250.2(MPO):c.2187C>T (p.Asn729=)	MPO	Single nucleotide variant (synonymous variant)	Alzheimer disease type 1 +2 more	GBenign/Likely benign
Select item 2334061	NM_000250.2(MPO):c.2182G>T (p.Val728Phe)	MPO (V728F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710279	NM_000250.2(MPO):c.2133C>T (p.Thr711=)	MPO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2334422	NM_000250.2(MPO):c.2125A>T (p.Ile709Phe)	MPO (I709F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202604	NM_000250.2(MPO):c.2113G>A (p.Asp705Asn)	MPO (D705N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049530	NM_000250.2(MPO):c.2047G>C (p.Glu683Gln)	MPO (E683Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3632	NM_000250.2(MPO):c.2031-2A>C	MPO	Single nucleotide variant (splice acceptor variant)	Myeloperoxidase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 403102	NM_000250.2(MPO):c.2031-6A>C	MPO	Single nucleotide variant (intron variant)	MPO-related disorder +1 more	GBenign
Select item 2258797	NM_000250.2(MPO):c.1996G>C (p.Gly666Arg)	MPO (G666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202599	NM_000250.2(MPO):c.1984G>A (p.Ala662Thr)	MPO (A662T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509454	NM_000250.2(MPO):c.1973G>A (p.Gly658Asp)	MPO (G658D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286183	NM_000250.2(MPO):c.1969G>T (p.Val657Leu)	MPO (V657L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039581	NM_000250.2(MPO):c.1951C>T (p.Leu651=)	MPO	Single nucleotide variant (synonymous variant)	MPO-related disorder	GLikely benign
Select item 2647955	NM_000250.2(MPO):c.1935C>T (p.Gly645=)	MPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3052711	NM_000250.2(MPO):c.1924A>C (p.Ile642Leu)	MPO (I642L)	Single nucleotide variant (missense variant)	MPO-related disorder	GLikely benign
Select item 2364565	NM_000250.2(MPO):c.1918A>T (p.Ile640Phe)	MPO (I640F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345556	NM_000250.2(MPO):c.1918A>G (p.Ile640Val)	MPO (I640V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202586	NM_000250.2(MPO):c.1815C>A (p.Phe605Leu)	MPO (F605L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727047	NM_000250.2(MPO):c.1810C>T (p.Arg604Cys)	MPO (R604C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 995959	NM_000250.2(MPO):c.1783G>A (p.Gly595Ser)	MPO, LOC106694316 (G595S)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency	GPathogenic
Select item 3202580	NM_000250.2(MPO):c.1780C>T (p.His594Tyr)	LOC106694316, MPO (H594Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474160	NM_000250.2(MPO):c.1769G>A (p.Arg590His)	LOC106694316, MPO (R590H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607105	NM_000250.2(MPO):c.1738G>A (p.Gly580Arg)	LOC106694316, MPO (G580R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3631	NM_000250.2(MPO):c.1715T>G (p.Leu572Trp)	LOC106694316, MPO (L572W)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency	GPathogenic
Select item 2627633	NM_000250.2(MPO):c.1711C>T (p.Arg571Ter)	LOC106694316, MPO (R571*)	Single nucleotide variant (nonsense)	Myeloperoxidase deficiency	GLikely pathogenic
Select item 3626	NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	LOC106694316, MPO (R569W)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 2689443	NM_000250.2(MPO):c.1643G>A (p.Arg548Gln)	LOC106694316, MPO (R548Q)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency	GUncertain significance
Select item 2528487	NM_000250.2(MPO):c.1636A>G (p.Ile546Val)	LOC106694316, MPO (I546V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 452406	NM_000250.2(MPO):c.1621+2T>C	LOC106694316, MPO	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3629	NM_000250.2(MPO):c.1555_1568del (p.Met519fs)	LOC106694316, MPO (M519fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2318830	NM_000250.2(MPO):c.1535T>C (p.Leu512Pro)	LOC106694316, MPO (L512P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483780	NM_000250.2(MPO):c.1528T>C (p.Phe510Leu)	LOC106694316, MPO (F510L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3634	NM_000250.2(MPO):c.1501G>A (p.Gly501Ser)	MPO, LOC106694316 (G501S)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency	GPathogenic
Select item 3635	NM_000250.2(MPO):c.1495C>T (p.Arg499Cys)	LOC106694316, MPO (R499C)	Single nucleotide variant (missense variant)	MPO-related disorder	GLikely pathogenic
Select item 2278742	NM_000250.2(MPO):c.1471G>A (p.Ala491Thr)	LOC106694316, MPO (A491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038937	NM_000250.2(MPO):c.1470C>T (p.Ile490=)	LOC106694316, MPO	Single nucleotide variant (synonymous variant)	MPO-related disorder	GLikely benign
Select item 790182	NM_000250.2(MPO):c.1410G>A (p.Thr470=)	LOC106694316, MPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 718104	NM_000250.2(MPO):c.1379G>A (p.Arg460Gln)	MPO, LOC106694316 (R460Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 781309	NM_000250.2(MPO):c.1377C>T (p.Tyr459=)	LOC106694316, MPO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3202552	NM_000250.2(MPO):c.1367T>C (p.Ile456Thr)	LOC106694316, MPO (I456T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777484	NM_000250.2(MPO):c.1365+7C>G	LOC106694316, MPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 726909	NM_000250.2(MPO):c.1365+7C>T	LOC106694316, MPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 452644	NM_000250.2(MPO):c.1281del (p.Thr428fs)	LOC106694316, MPO (T428fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2384553	NM_000250.2(MPO):c.1273C>T (p.Arg425Trp)	LOC106694316, MPO (R425W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202543	NM_000250.2(MPO):c.1250C>A (p.Thr417Asn)	LOC106694316, MPO (T417N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378375	NM_000250.2(MPO):c.1181C>T (p.Ala394Val)	MPO (A394V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288490	NM_000250.2(MPO):c.1039G>A (p.Glu347Lys)	MPO (E347K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931524	NM_000250.2(MPO):c.1031G>A (p.Gly344Asp)	MPO (G344D)	Single nucleotide variant (missense variant)	Alzheimer disease	GUncertain significance
Select item 3630	NM_000250.2(MPO):c.995C>T (p.Ala332Val)	MPO (A332V)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2297696	NM_000250.2(MPO):c.896A>G (p.Asn299Ser)	MPO (N299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364428	NM_000250.2(MPO):c.856G>T (p.Val286Phe)	MPO (V286F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202644	NM_000250.2(MPO):c.826G>A (p.Val276Ile)	MPO (V276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296587	NM_000250.2(MPO):c.815G>A (p.Arg272Gln)	MPO (R272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202641	NM_000250.2(MPO):c.814C>T (p.Arg272Trp)	MPO (R272W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319953	NM_000250.2(MPO):c.757A>G (p.Met253Val)	MPO (M253V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3628	NM_000250.2(MPO):c.752T>C (p.Met251Thr)	MPO (M251T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2614383	NM_000250.2(MPO):c.731C>T (p.Pro244Leu)	MPO (P244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1323288	NM_000250.2(MPO):c.721C>T (p.Gln241Ter)	MPO (Q241*)	Single nucleotide variant (nonsense)	MPO-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2647956	NM_000250.2(MPO):c.696C>T (p.Asn232=)	MPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808301	NM_000250.2(MPO):c.696C>G (p.Asn232Lys)	MPO (N232K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3202638	NM_000250.2(MPO):c.686C>G (p.Ala229Gly)	MPO (A229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202635	NM_000250.2(MPO):c.685G>A (p.Ala229Thr)	MPO (A229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262257	NM_000250.2(MPO):c.608A>C (p.Tyr203Ser)	MPO (Y203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 489145	NM_000250.2(MPO):c.604G>T (p.Glu202Ter)	MPO (E202*)	Single nucleotide variant (nonsense)	Myeloperoxidase deficiency +2 more	GLikely pathogenic
Select item 2483686	NM_000250.2(MPO):c.571T>A (p.Ser191Thr)	MPO (S191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3627	NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)	MPO (Y173C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3202626	NM_000250.2(MPO):c.517T>C (p.Tyr173His)	MPO (Y173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044215	NM_000250.2(MPO):c.495G>T (p.Val165=)	MPO	Single nucleotide variant (synonymous variant)	MPO-related disorder	GLikely benign
Select item 2547375	NM_000250.2(MPO):c.458C>T (p.Ser153Phe)	LOC106694315, MPO (S153F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467364	NM_000250.2(MPO):c.449A>T (p.Asn150Ile)	LOC106694315, MPO (N150I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330671	NM_000250.2(MPO):c.422C>T (p.Thr141Ile)	LOC106694315, MPO (T141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1323289	NM_000250.2(MPO):c.403C>T (p.Arg135Ter)	LOC106694315, MPO (R135*)	Single nucleotide variant (nonsense)	Myeloperoxidase deficiency	GPathogenic
Select item 3202616	NM_000250.2(MPO):c.381G>C (p.Glu127Asp)	LOC106694315, MPO (E127D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714561	NM_000250.2(MPO):c.315G>A (p.Pro105=)	LOC106694315, MPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2482702	NM_000250.2(MPO):c.314C>T (p.Pro105Leu)	LOC106694315, MPO (P105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1012427	NM_000250.2(MPO):c.308AGC[1] (p.Gln104del)	LOC106694315, MPO (Q104del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1324732	NM_000250.2(MPO):c.249-2A>G	LOC106694315, MPO	Single nucleotide variant (splice acceptor variant)	Myeloperoxidase deficiency +1 more	GLikely pathogenic
Select item 3047219	NM_000250.2(MPO):c.248+9C>T	LOC106694315, MPO	Single nucleotide variant (intron variant)	MPO-related disorder	GLikely benign
Select item 790725	NM_000250.2(MPO):c.234G>A (p.Lys78=)	LOC106694315, MPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2299695	NM_000250.2(MPO):c.224A>G (p.Lys75Arg)	LOC106694315, MPO (K75R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468154	NM_000250.2(MPO):c.179C>T (p.Ser60Leu)	LOC106694315, MPO (S60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731283	NM_000250.2(MPO):c.172G>A (p.Asp58Asn)	LOC106694315, MPO (D58N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3055447	NM_000250.2(MPO):c.157G>T (p.Val53Phe)	MPO, LOC106694315 (V53F)	Single nucleotide variant (missense variant)	MPO-related disorder	GBenign
Select item 2553781	NM_000250.2(MPO):c.112G>T (p.Ala38Ser)	LOC106694315, MPO (A38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 453114	NM_000250.2(MPO):c.110T>C (p.Leu37Pro)	LOC106694315, MPO (L37P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047393	NM_000250.2(MPO):c.47G>A (p.Gly16Glu)	LOC106694315, MPO (G16E)	Single nucleotide variant (missense variant)	MPO-related disorder	GLikely benign
Select item 827605	NM_000250.2(MPO):c.-56C>T	LOC106694315, MPO	Single nucleotide variant (5 prime UTR variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 3633	NC_000017.11:g.58281401C>T	LOC106694315, MPO	Single nucleotide variant	Lung cancer, protection against, in smokers +1 more	Gprotective; risk factor
Select item 2429783	NC_000017.10:g.(?_55806534)_(56540597_?)del	OR4D2, SUPT4H1 +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	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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

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