100533483[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 151013	GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3	CCPG1, DNAAF4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 58571	GRCh38/hg38 15q21.3(chr15:55279032-55622007)x3	CCPG1, DNAAF4 +23 more	Copy number gain	See cases	GPathogenic
Select item 2099988	NM_004855.5(PIGB):c.1519-20A>G	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1565530	NM_004855.5(PIGB):c.1519-7C>G	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1577109	NM_004855.5(PIGB):c.1527C>T (p.Ser509=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign
Select item 2708094	NM_004855.5(PIGB):c.1533C>T (p.Phe511=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1956110	NM_004855.5(PIGB):c.1559C>A (p.Thr520Asn)	CCPG1, DNAAF4-CCPG1 +1 more (T520N)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1985131	NM_004855.5(PIGB):c.1569C>A (p.Phe523Leu)	CCPG1, DNAAF4-CCPG1 +1 more (F523L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1577051	NM_004855.5(PIGB):c.1572C>T (p.Phe524=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2434836	NM_004855.5(PIGB):c.1594C>T (p.Arg532Ter)	CCPG1, DNAAF4-CCPG1 +1 more (R532*)	Single nucleotide variant (non-coding transcript variant +2 more)	Developmental and epileptic encephalopathy, 80	GUncertain significance
Select item 2529519	NM_004855.5(PIGB):c.1595G>A (p.Arg532Gln)	CCPG1, DNAAF4-CCPG1 +1 more (R532Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2060262	NM_004855.5(PIGB):c.1605T>C (p.Ser535=)	PIGB, CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1423964	NM_004855.5(PIGB):c.1609A>T (p.Ile537Leu)	CCPG1, DNAAF4-CCPG1 +1 more (I537L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 976715	NM_004855.5(PIGB):c.1611A>G (p.Ile537Met)	CCPG1, DNAAF4-CCPG1 +1 more (I537M)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1976422	NM_004855.5(PIGB):c.1618T>C (p.Tyr540His)	CCPG1, DNAAF4-CCPG1 +1 more (Y540H)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2049888	NM_004855.5(PIGB):c.1624C>T (p.Arg542Trp)	CCPG1, DNAAF4-CCPG1 +1 more (R542W)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2291900	NM_004855.5(PIGB):c.1626del (p.Lys543fs)	CCPG1, DNAAF4-CCPG1 +1 more (K543fs)	Deletion (frameshift variant +2 more)	not specified +1 more	GUncertain significance
Select item 1940919	NM_004855.5(PIGB):c.1625G>A (p.Arg542Gln)	CCPG1, DNAAF4-CCPG1 +1 more (R542Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1586179	NM_004855.5(PIGB):c.1626G>C (p.Arg542=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2044804	NM_004855.5(PIGB):c.1630T>C (p.Leu544=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1988600	NM_004855.5(PIGB):c.1635del (p.Lys547fs)	PIGB, CCPG1 +1 more (K547fs)	Deletion (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2834196	NM_004855.5(PIGB):c.1644C>T (p.Phe548=)	PIGB, CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 785488	NM_004855.5(PIGB):c.1652A>C (p.Lys551Thr)	DNAAF4-CCPG1, PIGB +1 more (K551T)	Single nucleotide variant (non-coding transcript variant +2 more)	PIGB-related disorder +1 more	GBenign
Select item 3140055	NM_001204450.2(CCPG1):c.2395G>T (p.Gly799Trp)	CCPG1, DNAAF4-CCPG1 (G416W +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140054	NM_001204450.2(CCPG1):c.2351G>A (p.Gly784Asp)	CCPG1, DNAAF4-CCPG1 (G401D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2341752	NM_001204450.2(CCPG1):c.2192G>A (p.Arg731Lys)	CCPG1, DNAAF4-CCPG1 (R348K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3264634	NM_001204450.2(CCPG1):c.2130C>A (p.Asn710Lys)	CCPG1, DNAAF4-CCPG1 (N710K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2258443	NM_001204450.2(CCPG1):c.2129A>G (p.Asn710Ser)	CCPG1, DNAAF4-CCPG1 (N327S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140053	NM_001204450.2(CCPG1):c.2062G>A (p.Gly688Ser)	CCPG1, DNAAF4-CCPG1 (G688S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2213453	NM_001204450.2(CCPG1):c.2048A>G (p.Lys683Arg)	CCPG1, DNAAF4-CCPG1 (K683R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140052	NM_001204450.2(CCPG1):c.2005G>A (p.Asp669Asn)	CCPG1, DNAAF4-CCPG1 (D669N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2260517	NM_001204450.2(CCPG1):c.1939G>A (p.Val647Met)	CCPG1, DNAAF4-CCPG1 (V647M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2558654	NM_001204450.2(CCPG1):c.1889C>G (p.Ser630Cys)	CCPG1, DNAAF4-CCPG1 (S630C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2511610	NM_001204450.2(CCPG1):c.1867C>T (p.His623Tyr)	CCPG1, DNAAF4-CCPG1 (H623Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140051	NM_001204450.2(CCPG1):c.1837A>G (p.Ser613Gly)	CCPG1, DNAAF4-CCPG1 (S613G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140050	NM_001204450.2(CCPG1):c.1784A>G (p.Glu595Gly)	CCPG1, DNAAF4-CCPG1 (E595G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2372975	NM_001204450.2(CCPG1):c.1727C>T (p.Ala576Val)	CCPG1, DNAAF4-CCPG1 (A576V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2212316	NM_001204450.2(CCPG1):c.1670A>C (p.Glu557Ala)	CCPG1, DNAAF4-CCPG1 (E557A)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2209504	NM_001204450.2(CCPG1):c.1588A>G (p.Lys530Glu)	CCPG1, DNAAF4-CCPG1 (K530E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2341737	NM_001204450.2(CCPG1):c.1517A>T (p.His506Leu)	CCPG1, DNAAF4-CCPG1 (H506L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2645365	NM_001204450.2(CCPG1):c.1299G>A (p.Glu433=)	CCPG1, DNAAF4-CCPG1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3140048	NM_001204450.2(CCPG1):c.1298A>G (p.Glu433Gly)	CCPG1, DNAAF4-CCPG1 (E433G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2263784	NM_001204450.2(CCPG1):c.1247A>G (p.Asn416Ser)	CCPG1, DNAAF4-CCPG1 (N416S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2291775	NM_001204450.2(CCPG1):c.1213G>T (p.Gly405Cys)	CCPG1, DNAAF4-CCPG1 (G405C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2375314	NM_001204450.2(CCPG1):c.1191G>C (p.Arg397Ser)	CCPG1, DNAAF4-CCPG1 (R397S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140047	NM_001204450.2(CCPG1):c.1181C>T (p.Thr394Met)	CCPG1, DNAAF4-CCPG1 (T394M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2546919	NM_001204450.2(CCPG1):c.1153G>C (p.Glu385Gln)	CCPG1, DNAAF4-CCPG1 (E385Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3140060	NM_001204450.2(CCPG1):c.997G>A (p.Glu333Lys)	CCPG1, DNAAF4-CCPG1 (E333K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2270142	NM_001204450.2(CCPG1):c.902C>T (p.Thr301Met)	CCPG1, DNAAF4-CCPG1 (T301M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2548961	NM_001204450.2(CCPG1):c.833T>C (p.Leu278Ser)	CCPG1, DNAAF4-CCPG1 (L278S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140058	NM_001204450.2(CCPG1):c.822T>G (p.Asp274Glu)	CCPG1, DNAAF4-CCPG1 (D274E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140057	NM_001204450.2(CCPG1):c.821A>G (p.Asp274Gly)	CCPG1, DNAAF4-CCPG1 (D274G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3264635	NM_001204450.2(CCPG1):c.772A>G (p.Met258Val)	CCPG1, DNAAF4-CCPG1 (M258V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3264632	NM_001204450.2(CCPG1):c.727C>T (p.Arg243Cys)	CCPG1, DNAAF4-CCPG1 (R243C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3264631	NM_001204450.2(CCPG1):c.724A>G (p.Lys242Glu)	CCPG1, DNAAF4-CCPG1 (K242E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2604934	NM_001204450.2(CCPG1):c.679A>G (p.Ile227Val)	CCPG1, DNAAF4-CCPG1 (I227V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2205585	NM_001204450.2(CCPG1):c.581T>C (p.Leu194Pro)	CCPG1, DNAAF4-CCPG1 (L194P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2348888	NM_001204450.2(CCPG1):c.578G>A (p.Arg193Gln)	CCPG1, DNAAF4-CCPG1 (R193Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2244750	NM_001204450.2(CCPG1):c.437T>C (p.Phe146Ser)	CCPG1, DNAAF4-CCPG1 (F146S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2529181	NM_001204450.2(CCPG1):c.428A>G (p.Gln143Arg)	CCPG1, DNAAF4-CCPG1 (Q143R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2553758	NM_001204450.2(CCPG1):c.419C>G (p.Ser140Cys)	CCPG1, DNAAF4-CCPG1 (S140C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2316278	NM_001204450.2(CCPG1):c.381A>C (p.Glu127Asp)	CCPG1, DNAAF4-CCPG1 (E127D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2204781	NM_001204450.2(CCPG1):c.365T>A (p.Val122Asp)	CCPG1, DNAAF4-CCPG1 (V122D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3140056	NM_001204450.2(CCPG1):c.359A>G (p.Gln120Arg)	CCPG1, DNAAF4-CCPG1 (Q120R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3264633	NM_001204450.2(CCPG1):c.335C>G (p.Pro112Arg)	CCPG1, DNAAF4-CCPG1 (P112R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2353586	NM_001204450.2(CCPG1):c.285C>G (p.Ile95Met)	CCPG1, DNAAF4-CCPG1 (I95M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3264629	NM_001204450.2(CCPG1):c.257A>G (p.Glu86Gly)	CCPG1, DNAAF4-CCPG1 (E86G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2589001	NM_001204450.2(CCPG1):c.247A>G (p.Ile83Val)	CCPG1, DNAAF4-CCPG1 (I83V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2235841	NM_001204450.2(CCPG1):c.223G>A (p.Ala75Thr)	CCPG1, DNAAF4-CCPG1 (A75T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2266048	NM_001204450.2(CCPG1):c.202A>C (p.Met68Leu)	CCPG1, DNAAF4-CCPG1 (M68L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2588016	NM_001204450.2(CCPG1):c.125G>A (p.Cys42Tyr)	CCPG1, DNAAF4-CCPG1 (C42Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3264630	NM_001204450.2(CCPG1):c.115G>A (p.Ala39Thr)	CCPG1, DNAAF4-CCPG1 (A39T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2645366	NM_001198784.2(PIERCE2):c.19-132G>A	DNAAF4, DNAAF4-CCPG1 +1 more (P364S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 916127	NG_021213.1(DNAAF4):g.80484_83613del	DNAAF4, DNAAF4-CCPG1	Deletion (intron variant)	Primary ciliary dyskinesia	GPathogenic
Select item 525588	NC_000015.10:g.(?_55430650)_(55432622_?)del	DNAAF4, DNAAF4-CCPG1	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 646956	NC_000015.10:g.(?_55430664)_(55432608_?)del	DNAAF4, DNAAF4-CCPG1	Deletion	not provided	GPathogenic
Select item 262314	NM_130810.4(DNAAF4):c.1259C>G (p.Ser420Cys)	DNAAF4, DNAAF4-CCPG1 (S420C)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 2136	NM_130810.4(DNAAF4):c.1249G>T (p.Glu417Ter)	DNAAF4, DNAAF4-CCPG1 (E417*)	Single nucleotide variant (3 prime UTR variant +2 more)	Primary ciliary dyskinesia 25 +2 more	GBenign
Select item 1082173	NM_130810.4(DNAAF4):c.1248A>G (p.Thr416=)	DNAAF4, DNAAF4-CCPG1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 410958	NM_130810.4(DNAAF4):c.1241A>C (p.Gln414Pro)	DNAAF4, DNAAF4-CCPG1 (Q414P)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1044412	NM_130810.4(DNAAF4):c.1229G>T (p.Arg410Leu)	DNAAF4, DNAAF4-CCPG1 (G375* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1912622	NM_130810.4(DNAAF4):c.1227T>A (p.Ile409=)	DNAAF4, DNAAF4-CCPG1 (F374Y)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 410962	NM_130810.4(DNAAF4):c.1225A>T (p.Ile409Phe)	DNAAF4, DNAAF4-CCPG1 (I409F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2637240	NM_130810.4(DNAAF4):c.1221G>C (p.Glu407Asp)	DNAAF4, DNAAF4-CCPG1 (E407D +1 more)	Single nucleotide variant (missense variant +1 more)	DNAAF4-related disorder	GUncertain significance
Select item 454959	NM_130810.4(DNAAF4):c.1216G>C (p.Ala406Pro)	DNAAF4, DNAAF4-CCPG1 (A406P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3083346	NM_130810.4(DNAAF4):c.1213G>C (p.Asp405His)	DNAAF4, DNAAF4-CCPG1 (D405H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3272526	NM_130810.4(DNAAF4):c.1205T>C (p.Val402Ala)	DNAAF4, DNAAF4-CCPG1 (Y367H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2724744	NM_130810.4(DNAAF4):c.1204G>A (p.Val402Ile)	DNAAF4, DNAAF4-CCPG1 (V402I)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1018752	NM_130810.4(DNAAF4):c.1200A>T (p.Lys400Asn)	DNAAF4, DNAAF4-CCPG1 (K365I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1395039	NM_130810.4(DNAAF4):c.1199A>G (p.Lys400Arg)	DNAAF4, DNAAF4-CCPG1 (K365E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 858060	NM_130810.4(DNAAF4):c.1196A>G (p.Asn399Ser)	DNAAF4, DNAAF4-CCPG1 (N399S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1540572	NM_130810.4(DNAAF4):c.1191A>G (p.Pro397=)	DNAAF4, DNAAF4-CCPG1 (H362R)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2068851	NM_130810.4(DNAAF4):c.1190C>T (p.Pro397Leu)	DNAAF4, DNAAF4-CCPG1 (H362Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3083344	NM_130810.4(DNAAF4):c.1184T>G (p.Ile395Ser)	DNAAF4, DNAAF4-CCPG1 (I395S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 960625	NM_130810.4(DNAAF4):c.1177C>T (p.Leu393Phe)	DNAAF4, DNAAF4-CCPG1 (L393F)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2886209	NM_130810.4(DNAAF4):c.1176A>G (p.Ala392=)	DNAAF4, DNAAF4-CCPG1 (H357R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 762730	NM_130810.4(DNAAF4):c.1173G>A (p.Ala391=)	DNAAF4, DNAAF4-CCPG1 (R356Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign

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