ClinVar for MedGen (Select 815764) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066152	NM_178170.3(NEK8):c.142G>C (p.Ala48Pro)	NEK8 (A48P)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2	GUncertain significance
Select item 2663928	NM_178170.3(NEK8):c.1891+1G>A	LOC130060574, NEK8	Single nucleotide variant (splice donor variant)	Renal-hepatic-pancreatic dysplasia 2	GUncertain significance
Select item 2500285	NM_178170.3(NEK8):c.618G>A (p.Ala206=)	NEK8	Single nucleotide variant (synonymous variant)	NEK8-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2442173	NM_178170.3(NEK8):c.37G>A (p.Gly13Ser)	NEK8 (G13S)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2	GUncertain significance
Select item 2441666	NM_178170.3(NEK8):c.1148G>C (p.Arg383Pro)	NEK8 (R383P)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2	GUncertain significance
Select item 1683754	NM_178170.3(NEK8):c.301GAG[2] (p.Glu103del)	NEK8 (E103del)	Microsatellite (inframe_deletion)	Renal-hepatic-pancreatic dysplasia 2	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 1619001	NM_178170.3(NEK8):c.1035C>T (p.Ala345=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9 +1 more	GLikely benign
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 1480575	NM_178170.3(NEK8):c.1736C>T (p.Ser579Leu)	NEK8 (S579L)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2 +2 more	GUncertain significance
Select item 1472264	NM_178170.3(NEK8):c.269A>G (p.Glu90Gly)	NEK8 (E90G)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GUncertain significance
Select item 1436724	NM_178170.3(NEK8):c.857C>G (p.Thr286Arg)	NEK8 (T286R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 1403644	NM_178170.3(NEK8):c.1078C>T (p.Pro360Ser)	NEK8 (P360S)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GUncertain significance
Select item 1339021	NM_178170.3(NEK8):c.536C>G (p.Pro179Arg)	NEK8 (P179R)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2	GUncertain significance
Select item 1177403	NM_178170.3(NEK8):c.515dup (p.Pro172_Glu173insTer)	NEK8	Duplication (frameshift variant)	Renal-hepatic-pancreatic dysplasia 2	GPathogenic
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 1031754	NM_178170.3(NEK8):c.972C>G (p.Pro324=)	NEK8	Single nucleotide variant (synonymous variant)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GConflicting classifications of pathogenicity
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 1010659	NM_178170.3(NEK8):c.2072C>T (p.Pro691Leu)	NEK8 (P691L)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +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
Select item 974436	NM_178170.3(NEK8):c.322TTC[1] (p.Phe109del)	NEK8 (F109del)	Microsatellite (inframe_deletion)	Renal-hepatic-pancreatic dysplasia 2	GLikely pathogenic
Select item 971691	NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu)	NEK8 (S389L)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GUncertain significance
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 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 891258	NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu)	NEK8 (S382L)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2 +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 +1 more	GUncertain significance
Select item 889766	NM_178170.3(NEK8):c.1992C>G (p.His664Gln)	NEK8 (H664Q)	Single nucleotide variant (missense variant)	Nephronophthisis 9 +1 more	GUncertain significance
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 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 853121	NM_178170.3(NEK8):c.985A>G (p.Met329Val)	NEK8 (M329V)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GUncertain significance
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 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 699985	NM_178170.3(NEK8):c.936G>A (p.Ser312=)	NEK8	Single nucleotide variant (synonymous variant)	NEK8-related condition +2 more	GLikely benign
Select item 696885	NM_178170.3(NEK8):c.1263G>A (p.Gly421=)	NEK8	Single nucleotide variant (synonymous variant)	Nephronophthisis 9 +2 more	GLikely benign
Select item 696278	NM_178170.3(NEK8):c.2010C>T (p.Ser670=)	NEK8	Single nucleotide variant (synonymous variant)	Renal-hepatic-pancreatic dysplasia 2 +3 more	GLikely benign
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 642736	NM_178170.3(NEK8):c.976C>T (p.Arg326Trp)	NEK8 (R326W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 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 539142	NM_178170.3(NEK8):c.977G>A (p.Arg326Gln)	NEK8 (R326Q)	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 539139	NM_178170.3(NEK8):c.1299+3G>T	NEK8	Single nucleotide variant (intron variant)	Nephronophthisis 9 +2 more	GLikely benign
Select item 490184	NM_178170.3(NEK8):c.1384C>T (p.Arg462Ter)	NEK8 (R462*)	Single nucleotide variant (nonsense)	Renal-hepatic-pancreatic dysplasia 2	GPathogenic
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 490182	NM_178170.3(NEK8):c.47+1G>A	NEK8	Single nucleotide variant (splice donor variant)	Renal-hepatic-pancreatic dysplasia 2	GPathogenic
Select item 490181	NM_178170.3(NEK8):c.1738G>A (p.Gly580Ser)	NEK8 (G580S)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2	GPathogenic
Select item 490180	NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp)	NEK8 (R602W)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 490179	NM_178170.3(NEK8):c.259A>G (p.Thr87Ala)	NEK8 (T87A)	Single nucleotide variant (missense variant)	Renal-hepatic-pancreatic dysplasia 2	GPathogenic
Select item 490178	NM_178170.3(NEK8):c.1043C>T (p.Thr348Met)	NEK8 (T348M)	Single nucleotide variant (missense variant)	Nephronophthisis 9	GUncertain significance
Select item 490177	NM_178170.3(NEK8):c.2076dup (p.Ter693LeuextTer?)	NEK8	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 471780	NM_178170.3(NEK8):c.583G>A (p.Glu195Lys)	NEK8 (E195K)	Single nucleotide variant (missense variant)	not provided +3 more	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 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 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 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 262928	NM_178170.3(NEK8):c.1170T>C (p.Gly390=)	NEK8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 242154	NM_178170.3(NEK8):c.1732+8_1732+10del	NEK8	Microsatellite (intron variant)	Kidney disorder +3 more	GBenign/Likely benign
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 191072	NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter)	NEK8 (W467*)	Single nucleotide variant (nonsense)	Renal-hepatic-pancreatic dysplasia 2 +1 more	GPathogenic/Likely pathogenic
Select item 65408	NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)	NEK8 (R599*)	Single nucleotide variant (nonsense)	Renal-hepatic-pancreatic dysplasia 2 +2 more	GPathogenic/Likely pathogenic

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Items: 63