"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NEK8"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 943025	NM_178170.3(NEK8):c.22C>G (p.Arg8Gly)	NEK8 (R8G)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +1 more	GUncertain significance
Select item 1472264	NM_178170.3(NEK8):c.269A>G (p.Glu90Gly)	NEK8 (E90G)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +1 more	GUncertain significance
Select item 490183	NM_178170.3(NEK8):c.379C>T (p.Arg127Ter)	NEK8 (R127*)	Single nucleotide variant (nonsense)	Nephronophthisis 9 +1 more	GPathogenic
Select item 242155	NM_178170.3(NEK8):c.419G>T (p.Arg140Leu)	NEK8 (R140L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 471780	NM_178170.3(NEK8):c.583G>A (p.Glu195Lys)	NEK8 (E195K)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +3 more	GUncertain significance
Select item 1436724	NM_178170.3(NEK8):c.857C>G (p.Thr286Arg)	NEK8 (T286R)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
Select item 322478	NM_178170.3(NEK8):c.880C>T (p.Arg294Cys)	NEK8 (R294C)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +1 more	GUncertain significance
Select item 539140	NM_178170.3(NEK8):c.889+1G>T	NEK8	Single nucleotide variant (splice donor variant)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GLikely pathogenic
Select item 1588373	NM_178170.3(NEK8):c.889+17C>T	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9 +1 more	GLikely benign
Select item 1558843	NM_178170.3(NEK8):c.889+18G>A	NEK8	Single nucleotide variant (intron variant)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GLikely benign
Select item 839514	NM_178170.3(NEK8):c.935C>T (p.Ser312Leu)	NEK8 (S312L)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +1 more	GUncertain significance
Select item 699985	NM_178170.3(NEK8):c.936G>A (p.Ser312=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9 +1 more	GLikely benign
Select item 642736	NM_178170.3(NEK8):c.976C>T (p.Arg326Trp)	NEK8 (R326W)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
Select item 539142	NM_178170.3(NEK8):c.977G>A (p.Arg326Gln)	NEK8 (R326Q)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GUncertain significance
Select item 853121	NM_178170.3(NEK8):c.985A>G (p.Met329Val)	NEK8 (M329V)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +1 more	GUncertain significance
Select item 281472	NM_178170.3(NEK8):c.1000G>A (p.Val334Met)	NEK8 (V334M)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
Select item 1619001	NM_178170.3(NEK8):c.1035C>T (p.Ala345=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9 +1 more	GLikely benign
Select item 638453	NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser)	NEK8 (G346S)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +1 more	GUncertain significance
Select item 198630	NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu)	NEK8 (R352L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1640593	NM_178170.3(NEK8):c.1071+13G>C	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9 +1 more	GLikely benign
Select item 1403644	NM_178170.3(NEK8):c.1078C>T (p.Pro360Ser)	NEK8 (P360S)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +1 more	GUncertain significance
Select item 1160103	NM_178170.3(NEK8):c.1092C>T (p.Gly364=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9 +1 more	GLikely benign
Select item 619062	NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr)	NEK8 (S367T)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +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 971691	NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu)	NEK8 (S389L)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2 +2 more	GUncertain significance
Select item 322482	NM_178170.3(NEK8):c.1179C>G (p.Ile393Met)	NEK8 (I393M)	Single nucleotide variant (missense variant)	not provided +3 more	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 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 696885	NM_178170.3(NEK8):c.1263G>A (p.Gly421=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9 +1 more	GLikely benign
Select item 539139	NM_178170.3(NEK8):c.1299+3G>T	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9 +1 more	GLikely benign
Select item 1430306	NM_178170.3(NEK8):c.1359_1360del (p.His454fs)	NEK8 (H454fs)	Microsatellite (frameshift variant)	Nephronophthisis 9 +1 more	GPathogenic/Likely pathogenic
Select item 700959	NM_178170.3(NEK8):c.1632G>C (p.Val544=)	LOC130060573, NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9 +1 more	GBenign/Likely benign
Select item 242154	NM_178170.3(NEK8):c.1732+8_1732+10del	NEK8	Microsatellite (intron variant)	Nephronophthisis 9 +3 more	GBenign/Likely benign
Select item 1480575	NM_178170.3(NEK8):c.1736C>T (p.Ser579Leu)	NEK8 (S579L)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
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 65408	NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)	NEK8 (R599*)	Single nucleotide variant (nonsense)	Nephronophthisis 9 +2 more	GPathogenic/Likely pathogenic
Select item 889765	NM_178170.3(NEK8):c.1967G>A (p.Arg656Gln)	NEK8 (R656Q)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
Select item 889766	NM_178170.3(NEK8):c.1992C>G (p.His664Gln)	NEK8 (H664Q)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
Select item 1026934	NM_178170.3(NEK8):c.2000C>T (p.Thr667Met)	NEK8 (T667M)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
Select item 696278	NM_178170.3(NEK8):c.2010C>T (p.Ser670=)	NEK8	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 889767	NM_178170.3(NEK8):c.2068G>A (p.Val690Ile)	NEK8 (V690I)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +2 more	GUncertain significance
Select item 1010659	NM_178170.3(NEK8):c.2072C>T (p.Pro691Leu)	NEK8 (P691L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1004174	NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?)	NEK8	Deletion (frameshift variant +1 more)	Nephronophthisis 9 +1 more	GUncertain significance

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Items: 44