C3151188[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 889701	NM_178170.3(NEK8):c.48-10G>A	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GConflicting classifications of pathogenicity
Select item 632273	NM_178170.3(NEK8):c.141del (p.Ala48fs)	NEK8 (A48fs)	Deletion (frameshift variant)	Nephronophthisis 9	GUncertain significance
Select item 242155	NM_178170.3(NEK8):c.419G>T (p.Arg140Leu)	NEK8 (R140L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 322476	NM_178170.3(NEK8):c.582C>T (p.Tyr194=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GConflicting classifications of pathogenicity
Select item 322477	NM_178170.3(NEK8):c.618+12C>T	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GConflicting classifications of pathogenicity
Select item 889702	NM_178170.3(NEK8):c.666T>C (p.Pro222=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GUncertain significance
Select item 889703	NM_178170.3(NEK8):c.801C>T (p.Thr267=)	NEK8	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 322478	NM_178170.3(NEK8):c.880C>T (p.Arg294Cys)	NEK8 (R294C)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GUncertain significance
Select item 322479	NM_178170.3(NEK8):c.881G>T (p.Arg294Leu)	NEK8 (R294L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 891255	NM_178170.3(NEK8):c.899G>A (p.Arg300Gln)	NEK8 (R300Q)	Single nucleotide variant (missense variant)	NEK8-related condition +1 more	GUncertain significance
Select item 698270	NM_178170.3(NEK8):c.1039G>A (p.Val347Ile)	NEK8 (V347I)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GConflicting classifications of pathogenicity
Select item 198630	NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu)	NEK8 (R352L)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2 +2 more	GUncertain significance
Select item 891256	NM_178170.3(NEK8):c.1076C>T (p.Pro359Leu)	NEK8 (P359L)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 891257	NM_178170.3(NEK8):c.1078C>A (p.Pro360Thr)	NEK8 (P360T)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 322480	NM_178170.3(NEK8):c.1093G>A (p.Gly365Arg)	NEK8 (G365R)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 619062	NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr)	NEK8 (S367T)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GUncertain significance
Select item 891258	NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu)	NEK8 (S382L)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
Select item 322481	NM_178170.3(NEK8):c.1148G>A (p.Arg383His)	NEK8 (R383H)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 262928	NM_178170.3(NEK8):c.1170T>C (p.Gly390=)	NEK8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 322482	NM_178170.3(NEK8):c.1179C>G (p.Ile393Met)	NEK8 (I393M)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
Select item 892446	NM_178170.3(NEK8):c.1232T>A (p.Ile411Asn)	NEK8 (I411N)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 650630	NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser)	NEK8 (G416S)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
Select item 322483	NM_178170.3(NEK8):c.1251C>T (p.Ser417=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GConflicting classifications of pathogenicity
Select item 892447	NM_178170.3(NEK8):c.1252G>A (p.Gly418Ser)	NEK8 (G418S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 892448	NM_178170.3(NEK8):c.1300-13C>A	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9	GUncertain significance
Select item 632274	NM_178170.3(NEK8):c.1332_1333dup (p.Met445fs)	NEK8 (M445fs)	Duplication (frameshift variant)	Nephronophthisis 9	GUncertain significance
Select item 889068	NM_178170.3(NEK8):c.1416C>G (p.Ser472Arg)	NEK8 (S472R)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 698255	NM_178170.3(NEK8):c.1539T>C (p.Pro513=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GConflicting classifications of pathogenicity
Select item 322484	NM_178170.3(NEK8):c.1641C>T (p.Ala547=)	LOC130060573, NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GBenign
Select item 242154	NM_178170.3(NEK8):c.1732+8_1732+10del	NEK8	Microsatellite (intron variant)	Kidney disorder +3 more	GBenign/Likely benign
Select item 262929	NM_178170.3(NEK8):c.1770C>T (p.His590=)	NEK8	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 889069	NM_178170.3(NEK8):c.1793G>A (p.Arg598His)	NEK8 (R598H)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +1 more	GUncertain significance
Select item 889070	NM_178170.3(NEK8):c.1795C>G (p.Arg599Gly)	NEK8 (R599G)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 322485	NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys)	NEK8 (E633K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 889071	NM_178170.3(NEK8):c.1925G>A (p.Arg642Gln)	NEK8 (R642Q)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 322486	NM_178170.3(NEK8):c.1938A>C (p.Gly646=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9	GBenign/Likely benign
Select item 889765	NM_178170.3(NEK8):c.1967G>A (p.Arg656Gln)	NEK8 (R656Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 889766	NM_178170.3(NEK8):c.1992C>G (p.His664Gln)	NEK8 (H664Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 632275	NM_178170.3(NEK8):c.2016dup (p.Cys673fs)	NEK8 (C673fs)	Duplication (frameshift variant)	Nephronophthisis 9	GUncertain significance
Select item 322487	NM_178170.3(NEK8):c.2048G>A (p.Arg683Gln)	NEK8 (R683Q)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
Select item 194569	NM_178170.3(NEK8):c.2052G>A (p.Ser684=)	NEK8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 889767	NM_178170.3(NEK8):c.2068G>A (p.Val690Ile)	NEK8 (V690I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 889768	NM_178170.3(NEK8):c.*19T>C	NEK8	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 322488	NM_178170.3(NEK8):c.*156G>A	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322489	NM_178170.3(NEK8):c.*163G>T	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322490	NM_178170.3(NEK8):c.*328C>T	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322491	NM_178170.3(NEK8):c.*338G>A	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322492	NM_178170.3(NEK8):c.*344C>T	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322493	NM_178170.3(NEK8):c.*381C>T	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 891304	NM_178170.3(NEK8):c.*382G>A	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322494	NM_178170.3(NEK8):c.*388C>T	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GBenign
Select item 322495	NM_178170.3(NEK8):c.*396G>A	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322496	NM_178170.3(NEK8):c.*420C>T	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322497	NM_178170.3(NEK8):c.*421G>A	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322498	NM_178170.3(NEK8):c.*430C>A	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GBenign
Select item 892498	NM_178170.3(NEK8):c.*474G>A	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322499	NM_178170.3(NEK8):c.*480G>A	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 892499	NM_178170.3(NEK8):c.*523C>T	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 892500	NM_178170.3(NEK8):c.*526A>G	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 892501	NM_178170.3(NEK8):c.*574A>C	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 889134	NM_178170.3(NEK8):c.*575A>C	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322500	NM_178170.3(NEK8):c.*578A>C	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GLikely benign
Select item 889135	NM_178170.3(NEK8):c.*582C>A	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 889136	NM_178170.3(NEK8):c.*637C>G	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GBenign
Select item 322501	NM_178170.3(NEK8):c.*666C>T	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 889137	NM_178170.3(NEK8):c.*759C>G	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance
Select item 322502	NM_178170.3(NEK8):c.*763A>G	NEK8	Single nucleotide variant (3 prime UTR variant)	Nephronophthisis 9	GUncertain significance

ClinVar

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Items: 67