"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CEP164"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1004967	NM_014956.5(CEP164):c.101G>T (p.Arg34Leu)	CEP164 (R34L)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
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 1166241	NM_014956.5(CEP164):c.194+20G>A	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15 +1 more	GBenign
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 763761	NM_014956.5(CEP164):c.237C>T (p.Asn79=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
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 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 1026843	NM_014956.5(CEP164):c.338A>G (p.Lys113Arg)	CEP164 (K113R)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 581067	NM_014956.5(CEP164):c.381dup (p.Lys128fs)	CEP164 (K128fs)	Duplication (frameshift variant)	Nephronophthisis 15 +1 more	GPathogenic/Likely pathogenic
Select item 1434234	NM_014956.5(CEP164):c.380C>G (p.Pro127Arg)	CEP164 (P127R)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 772097	NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)	CEP164 (P127L)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GConflicting classifications of pathogenicity
Select item 1572267	NM_014956.5(CEP164):c.381C>A (p.Pro127=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 743897	NM_014956.5(CEP164):c.390G>A (p.Ser130=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1053450	NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)	CEP164 (R151*)	Single nucleotide variant (nonsense)	Nephronophthisis 15	GPathogenic/Likely pathogenic
Select item 1041747	NM_014956.5(CEP164):c.485G>A (p.Arg162His)	CEP164 (R162H)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 954071	NM_014956.5(CEP164):c.499G>A (p.Val167Met)	CEP164 (V167M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1613296	NM_014956.5(CEP164):c.534G>A (p.Gln178=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 573184	NM_014956.5(CEP164):c.548T>A (p.Met183Lys)	CEP164 (M183K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1623101	NM_014956.5(CEP164):c.552+14C>G	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 1027914	NM_014956.5(CEP164):c.644_646del (p.Gly215del)	CEP164 (G215del)	Deletion (inframe_deletion)	Nephronophthisis 15	GUncertain significance
Select item 1639548	NM_014956.5(CEP164):c.687+15C>T	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GBenign/Likely benign
Select item 779720	NM_014956.5(CEP164):c.688-7T>C	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GBenign/Likely benign
Select item 773973	NM_014956.5(CEP164):c.696C>T (p.His232=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1432009	NM_014956.5(CEP164):c.710C>A (p.Pro237His)	CEP164 (P237H)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1415334	NM_014956.5(CEP164):c.749G>A (p.Gly250Asp)	CEP164 (G250D)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1412909	NM_014956.5(CEP164):c.765+3A>T	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GUncertain significance
Select item 1155139	NM_014956.5(CEP164):c.765+8C>T	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 1006919	NM_014956.5(CEP164):c.832C>T (p.Pro278Ser)	CEP164 (P278S)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +1 more	GUncertain significance
Select item 1056352	NM_014956.5(CEP164):c.833C>G (p.Pro278Arg)	CEP164 (P278R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1425188	NM_014956.5(CEP164):c.902G>A (p.Arg301Gln)	CEP164 (R301Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1522615	NM_014956.5(CEP164):c.944A>G (p.Glu315Gly)	CEP164 (E315G)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 941564	NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg)	CEP164 (P334R)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1002890	NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala)	CEP164 (P348A)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 766830	NM_014956.5(CEP164):c.1143C>T (p.Asp381=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1585983	NM_014956.5(CEP164):c.1152+16C>T	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 1622830	NM_014956.5(CEP164):c.1153-15G>T	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 1606726	NM_014956.5(CEP164):c.1158G>A (p.Leu386=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1054835	NM_014956.5(CEP164):c.1203A>G (p.Ile401Met)	CEP164 (I401M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 864363	NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe)	CEP164 (S407F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1009771	NM_014956.5(CEP164):c.1226A>G (p.His409Arg)	CEP164 (H409R)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1576204	NM_014956.5(CEP164):c.1233+9G>A	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 1135291	NM_014956.5(CEP164):c.1233+18del	CEP164	Deletion (intron variant)	Nephronophthisis 15	GLikely benign
Select item 1003346	NM_014956.5(CEP164):c.1252C>T (p.Arg418Trp)	CEP164 (R418W)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1351366	NM_014956.5(CEP164):c.1259C>T (p.Ser420Leu)	CEP164 (S420L)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1179150	NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs)	CEP164 (H422fs)	Insertion (frameshift variant)	Nephronophthisis 15	GPathogenic
Select item 963253	NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln)	CEP164 (R438Q)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1039419	NM_014956.5(CEP164):c.1316A>T (p.Gln439Leu)	CEP164 (Q439L)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1101400	NM_014956.5(CEP164):c.1362C>T (p.Ser454=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1628367	NM_014956.5(CEP164):c.1380G>A (p.Gln460=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1165493	NM_014956.5(CEP164):c.1399C>T (p.Leu467=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GBenign/Likely benign
Select item 473078	NM_014956.5(CEP164):c.1409+10G>A	CEP164	Single nucleotide variant (splice donor variant +1 more)	Nephronophthisis 15	GBenign/Likely benign
Select item 964646	NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln)	CEP164 (R480Q +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +1 more	GUncertain significance
Select item 540295	NM_014956.5(CEP164):c.1452C>T (p.Pro484=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 847670	NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys)	CEP164 (E492K +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 934273	NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu)	CEP164 (P498L +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 966152	NM_014956.5(CEP164):c.1502A>G (p.Gln501Arg)	CEP164 (Q504R +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +1 more	GUncertain significance
Select item 1420198	NM_014956.5(CEP164):c.1574A>G (p.Gln525Arg)	CEP164 (Q528R +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +1 more	GUncertain significance
Select item 1043992	NM_014956.5(CEP164):c.1607G>A (p.Cys536Tyr)	CEP164 (C536Y +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1087124	NM_014956.5(CEP164):c.1608T>C (p.Cys536=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 862467	NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg)	CEP164 (G539R +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 848293	NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr)	CEP164 (A556T +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1015328	NM_014956.5(CEP164):c.1667C>A (p.Ala556Glu)	CEP164 (A556E +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1456625	NM_014956.5(CEP164):c.1669dup (p.Glu557fs)	CEP164 (E557fs +1 more)	Duplication (frameshift variant)	Nephronophthisis 15	GPathogenic/Likely pathogenic
Select item 473079	NM_014956.5(CEP164):c.1692G>A (p.Ala564=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1052615	NM_014956.5(CEP164):c.1717C>A (p.Pro573Thr)	CEP164 (P573T +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1060026	NM_014956.5(CEP164):c.1724+1G>A	CEP164	Single nucleotide variant (splice donor variant)	Nephronophthisis 15	GLikely pathogenic
Select item 1004227	NM_014956.5(CEP164):c.1738C>A (p.Pro580Thr)	CEP164 (P580T +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1385219	NM_014956.5(CEP164):c.1759C>T (p.Leu587Phe)	CEP164 (L590F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1021536	NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr)	CEP164 (A598T +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1361876	NM_014956.5(CEP164):c.1860A>T (p.Gln620His)	CEP164 (Q620H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1519144	NM_014956.5(CEP164):c.1904G>A (p.Arg635Gln)	CEP164 (R635Q +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 998445	NM_014956.5(CEP164):c.1981C>T (p.Arg661Trp)	CEP164 (R661W +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 861023	NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys)	CEP164 (Q668K +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1552713	NM_014956.5(CEP164):c.2067-15A>G	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 961797	NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu)	CEP164 (S732L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 971548	NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)	CEP164 (Q737* +1 more)	Single nucleotide variant (nonsense)	Nephronophthisis 15	GPathogenic/Likely pathogenic
Select item 1481724	NM_014956.5(CEP164):c.2242C>G (p.Leu748Val)	CEP164 (L751V +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1604049	NM_014956.5(CEP164):c.2268A>G (p.Glu756=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 851372	NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu)	CEP164 (S780L +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +1 more	GUncertain significance
Select item 1036464	NM_014956.5(CEP164):c.2356C>T (p.Arg786Trp)	CEP164 (R786W +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15 +1 more	GUncertain significance
Select item 1169180	NM_014956.5(CEP164):c.2362-15C>T	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GBenign/Likely benign
Select item 1377616	NM_014956.5(CEP164):c.2362-14G>A	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GUncertain significance
Select item 1095949	NM_014956.5(CEP164):c.2379G>A (p.Gln793=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 1015791	NM_014956.5(CEP164):c.2464T>G (p.Ser822Ala)	CEP164 (S822A +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 728373	NM_014956.5(CEP164):c.2466T>C (p.Ser822=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GBenign/Likely benign
Select item 1510395	NM_014956.5(CEP164):c.2473G>A (p.Val825Met)	CEP164 (V828M +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 578474	NM_014956.5(CEP164):c.2493+1G>A	CEP164	Single nucleotide variant (splice donor variant)	Nephronophthisis 15	GLikely pathogenic
Select item 1362712	NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)	CEP164 (R840* +1 more)	Single nucleotide variant (nonsense)	Nephronophthisis 15	GPathogenic/Likely pathogenic
Select item 1084282	NM_014956.5(CEP164):c.2517G>A (p.Lys839=)	CEP164	Single nucleotide variant (synonymous variant)	Nephronophthisis 15	GLikely benign
Select item 954969	NM_014956.5(CEP164):c.2519G>A (p.Arg840His)	CEP164 (R840H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 959068	NM_014956.5(CEP164):c.2605T>C (p.Tyr869His)	CEP164 (Y872H +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 1120309	NM_014956.5(CEP164):c.2617-13A>G	CEP164	Single nucleotide variant (intron variant)	Nephronophthisis 15	GLikely benign
Select item 944143	NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp)	CEP164 (R880W +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 260479	NM_014956.5(CEP164):c.2655C>T (p.Thr885=)	CEP164	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 420952	NM_014956.5(CEP164):c.2662C>G (p.Leu888Val)	CEP164 (L888V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1519804	NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys)	CEP164 (R893C +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 15	GUncertain significance
Select item 938369	NM_014956.5(CEP164):c.2669G>A (p.Arg890His)	CEP164 (R893H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 571715	NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)	CEP164 (R897* +1 more)	Single nucleotide variant (nonsense)	Nephronophthisis 15	GPathogenic/Likely pathogenic

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