CEP164[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 148511	GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3	APOA1, APOA1-AS +83 more	Copy number gain	See cases	GUncertain significance
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	LOC130006826, LOC130006827 +90 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 1245048	NM_014956.5(CEP164):c.-21-14C>T	CEP164	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3344643	NM_014956.5(CEP164):c.-9A>T	CEP164	Single nucleotide variant (5 prime UTR variant)	CEP164-related disorder	GLikely benign
Select item 1064314	NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)	CEP164 (R4*)	Single nucleotide variant (nonsense)	Nephronophthisis 15 +1 more	GConflicting classifications of pathogenicity
Select item 1944074	NM_014956.5(CEP164):c.12A>G (p.Arg4=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1060292	NM_014956.5(CEP164):c.13C>A (p.Pro5Thr)	CEP164 (P5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2059045	NM_014956.5(CEP164):c.15C>T (p.Pro5=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1517576	NM_014956.5(CEP164):c.20G>A (p.Arg7His)	CEP164 (R7H)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1061769	NM_014956.5(CEP164):c.28G>C (p.Asp10His)	CEP164 (D10H)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 37295	NM_014956.5(CEP164):c.32A>C (p.Gln11Pro)	CEP164 (Q11P)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GPathogenic
Select item 2161137	NM_014956.5(CEP164):c.36G>T (p.Leu12=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 2040387	NM_014956.5(CEP164):c.40_41del (p.Leu14fs)	CEP164 (L14fs)	Deletion (frameshift variant)	Nephronophthisis 15	GPathogenic
Select item 3142630	NM_014956.5(CEP164):c.45A>T (p.Glu15Asp)	CEP164 (E15D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1469010	NM_014956.5(CEP164):c.50A>G (p.Asp17Gly)	CEP164 (D17G)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1498069	NM_014956.5(CEP164):c.53A>C (p.Tyr18Ser)	CEP164 (Y18S)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 2504441	NM_014956.5(CEP164):c.59A>C (p.Glu20Ala)	CEP164 (E20A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460780	NM_014956.5(CEP164):c.67A>G (p.Ile23Val)	CEP164 (I23V)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 592128	NM_014956.5(CEP164):c.76G>A (p.Glu26Lys)	CEP164 (E26K)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 2196163	NM_014956.5(CEP164):c.79C>G (p.Gln27Glu)	CEP164 (Q27E)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1328075	NM_014956.5(CEP164):c.79C>A (p.Gln27Lys)	CEP164 (Q27K)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 2916054	NM_014956.5(CEP164):c.82+16del	CEP164	Deletion (intron variant)	Nephronophthisis 15	GLikely benign
Select item 2146285	NM_014956.5(CEP164):c.82+19G>C	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 2161493	NM_014956.5(CEP164):c.83-15T>G	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 2754654	NM_014956.5(CEP164):c.88_89del (p.Ile29_Leu30insTer)	CEP164	Deletion (nonsense)	Nephronophthisis 15	GPathogenic
Select item 2762594	NM_014956.5(CEP164):c.99C>G (p.Ala33=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1462060	NM_014956.5(CEP164):c.100C>G (p.Arg34Gly)	CEP164 (R34G)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1004716	NM_014956.5(CEP164):c.100C>T (p.Arg34Trp)	CEP164 (R34W)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 2888350	NM_014956.5(CEP164):c.101G>A (p.Arg34Gln)	CEP164 (R34Q)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1004967	NM_014956.5(CEP164):c.101G>T (p.Arg34Leu)	CEP164 (R34L)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1398770	NM_014956.5(CEP164):c.112A>G (p.Ile38Val)	CEP164 (I38V)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1942052	NM_014956.5(CEP164):c.121A>G (p.Ile41Val)	CEP164 (I41V)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1008905	NM_014956.5(CEP164):c.127G>C (p.Glu43Gln)	CEP164 (E43Q)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1655210	NM_014956.5(CEP164):c.129A>G (p.Glu43=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 708800	NM_014956.5(CEP164):c.150G>A (p.Ala50=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 2149171	NM_014956.5(CEP164):c.151C>T (p.Arg51Ter)	CEP164 (R51*)	Single nucleotide variant (nonsense)	Nephronophthisis 15	GPathogenic
Select item 2193583	NM_014956.5(CEP164):c.152G>A (p.Arg51Gln)	CEP164 (R51Q)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 2200818	NM_014956.5(CEP164):c.154G>C (p.Glu52Gln)	CEP164 (E52Q)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1467343	NM_014956.5(CEP164):c.155A>C (p.Glu52Ala)	CEP164 (E52A)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1719329	NM_014956.5(CEP164):c.160A>T (p.Ile54Phe)	CEP164 (I54F)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 2911705	NM_014956.5(CEP164):c.162C>T (p.Ile54=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 2705204	NM_014956.5(CEP164):c.165G>C (p.Val55=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1104902	NM_014956.5(CEP164):c.171A>G (p.Pro57=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1139711	NM_014956.5(CEP164):c.183G>A (p.Glu61=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 962655	NM_014956.5(CEP164):c.190C>G (p.Pro64Ala)	CEP164 (P64A)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1963422	NM_014956.5(CEP164):c.191C>T (p.Pro64Leu)	CEP164 (P64L)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 2698582	NM_014956.5(CEP164):c.192A>C (p.Pro64=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 2140327	NM_014956.5(CEP164):c.192A>G (p.Pro64=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 2122508	NM_014956.5(CEP164):c.194+2T>C	CEP164	Single nucleotide variant (splice donor variant)	Nephronophthisis 15	GLikely pathogenic
Select item 2883526	NM_014956.5(CEP164):c.194+9G>C	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 708950	NM_014956.5(CEP164):c.194+10C>T	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 2902507	NM_014956.5(CEP164):c.194+11A>G	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 1536788	NM_014956.5(CEP164):c.194+12G>A	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 260477	NM_014956.5(CEP164):c.194+13G>T	CEP164	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1608157	NM_014956.5(CEP164):c.194+15G>A	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 1486512	NM_014956.5(CEP164):c.194+15G>T	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GConflicting classifications of pathogenicity
Select item 1592428	NM_014956.5(CEP164):c.194+16G>T	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 2911331	NM_014956.5(CEP164):c.194+19C>A	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 2159289	NM_014956.5(CEP164):c.194+20_194+25del	CEP164	Deletion (intron variant)	Nephronophthisis 15	GLikely benign
Select item 1589790	NM_014956.5(CEP164):c.194+19C>T	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 1166241	NM_014956.5(CEP164):c.194+20G>A	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15 +1 more	GBenign
Select item 2119316	NM_014956.5(CEP164):c.195-10C>A	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GUncertain significance
Select item 1363597	NM_014956.5(CEP164):c.203T>C (p.Ile68Thr)	CEP164 (I68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1308031	NM_014956.5(CEP164):c.212A>T (p.Asp71Val)	CEP164 (D71V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108307	NM_014956.5(CEP164):c.214A>G (p.Ile72Val)	CEP164 (I72V)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1535068	NM_014956.5(CEP164):c.231C>T (p.Phe77=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15 +1 more	GLikely benign
Select item 2041793	NM_014956.5(CEP164):c.232G>A (p.Ala78Thr)	CEP164 (A78T)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1476492	NM_014956.5(CEP164):c.233C>G (p.Ala78Gly)	CEP164 (A78G)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +1 more	GUncertain significance
Select item 763761	NM_014956.5(CEP164):c.237C>T (p.Asn79=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 2015819	NM_014956.5(CEP164):c.241C>T (p.Gln81Ter)	CEP164 (Q81*)	Single nucleotide variant (nonsense)	Nephronophthisis 15	GPathogenic
Select item 383931	NM_014956.5(CEP164):c.262T>C (p.Cys88Arg)	CEP164 (C88R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 591983	NM_014956.5(CEP164):c.266dup (p.Asp89fs)	CEP164 (D89fs)	Duplication (frameshift variant)	Nephronophthisis 15	GPathogenic
Select item 3002714	NM_014956.5(CEP164):c.267C>T (p.Asp89=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 2180250	NM_014956.5(CEP164):c.268G>C (p.Glu90Gln)	CEP164 (E90Q)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +1 more	GUncertain significance
Select item 1010797	NM_014956.5(CEP164):c.272A>G (p.His91Arg)	CEP164 (H91R)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 2122570	NM_014956.5(CEP164):c.275A>G (p.Tyr92Cys)	CEP164 (Y92C)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1614373	NM_014956.5(CEP164):c.276T>C (p.Tyr92=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 930259	NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter)	CEP164 (Y92*)	Single nucleotide variant (nonsense)	Nephronophthisis 15	GLikely pathogenic
Select item 37296	NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)	CEP164 (R93W)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GLikely pathogenic
Select item 2149237	NM_014956.5(CEP164):c.278G>A (p.Arg93Gln)	CEP164 (R93Q)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 260481	NM_014956.5(CEP164):c.281G>A (p.Ser94Asn)	CEP164 (S94N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2993910	NM_014956.5(CEP164):c.282C>T (p.Ser94=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 2135922	NM_014956.5(CEP164):c.314C>T (p.Thr105Ile)	CEP164 (T105I)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1098961	NM_014956.5(CEP164):c.315T>C (p.Thr105=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 717881	NM_014956.5(CEP164):c.333G>A (p.Lys111=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 2585478	NM_014956.5(CEP164):c.347dup (p.Glu117fs)	CEP164 (E117fs)	Duplication (frameshift variant)	Nephronophthisis 15	GConflicting classifications of pathogenicity
Select item 1428039	NM_014956.5(CEP164):c.337A>G (p.Lys113Glu)	CEP164 (K113E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 993033	NM_014956.5(CEP164):c.347del (p.Lys116fs)	CEP164 (K116fs)	Deletion (frameshift variant)	Nephronophthisis 15 +1 more	GBenign
Select item 1026843	NM_014956.5(CEP164):c.338A>G (p.Lys113Arg)	CEP164 (K113R)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1628381	NM_014956.5(CEP164):c.339A>G (p.Lys113=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 2759006	NM_014956.5(CEP164):c.347A>G (p.Lys116Arg)	CEP164 (K116R)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance

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