CEP78[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59109	GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1	C9orf40, CARNMT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 151910	GRCh38/hg38 9q21.2(chr9:77531690-78300187)x1	CEP78, GNA14 +10 more	Copy number loss	See cases	GLikely pathogenic
Select item 1242267	NC_000009.12:g.78235830C>T	CEP78	Single nucleotide variant	not provided	GBenign
Select item 2579255	GRCh38/hg38 9q21.2(chr9:78235965-78243734)x1	CEP78	Copy number loss	Cone-rod dystrophy and hearing loss 1	GLikely pathogenic
Select item 1264250	NM_001330691.3(CEP78):c.-124C>T	CEP78	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2018416	NM_001330691.3(CEP78):c.1A>T (p.Met1Leu)	CEP78 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1518876	NM_001330691.3(CEP78):c.2T>C (p.Met1Thr)	CEP78 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1394129	NM_001330691.3(CEP78):c.11C>T (p.Ser4Phe)	CEP78 (S4F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446796	NM_001330691.3(CEP78):c.14T>C (p.Val5Ala)	CEP78 (V5A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982227	NM_001330691.3(CEP78):c.22C>T (p.Arg8Cys)	CEP78 (R8C)	Single nucleotide variant (missense variant)	Moyamoya angiopathy +1 more	GConflicting classifications of pathogenicity
Select item 731106	NM_001330691.3(CEP78):c.35C>T (p.Ala12Val)	CEP78 (A12V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1933138	NM_001330691.3(CEP78):c.39G>A (p.Ala13=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390126	NM_001330691.3(CEP78):c.40G>T (p.Asp14Tyr)	CEP78 (D14Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1105283	NM_001330691.3(CEP78):c.44TCT[1] (p.Phe16del)	CEP78 (F16del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1113978	NM_001330691.3(CEP78):c.45C>T (p.Phe15=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522885	NM_001330691.3(CEP78):c.52C>T (p.His18Tyr)	CEP78 (H18Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101877	NM_001330691.3(CEP78):c.54C>T (p.His18=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1613531	NM_001330691.3(CEP78):c.57C>T (p.Tyr19=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094692	NM_001330691.3(CEP78):c.58G>A (p.Glu20Lys)	CEP78 (E20K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 844273	NM_001330691.3(CEP78):c.58G>T (p.Glu20Ter)	CEP78 (E20*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1349363	NM_001330691.3(CEP78):c.59A>T (p.Glu20Val)	CEP78 (E20V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1074986	NM_001330691.3(CEP78):c.60del (p.Glu20fs)	CEP78 (E20fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 866098	NM_001330691.3(CEP78):c.62_64dup (p.Tyr21_Leu22insHis)	CEP78	Duplication (inframe_insertion)	Retinal dystrophy	GUncertain significance
Select item 2872044	NM_001330691.3(CEP78):c.64C>T (p.Leu22=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507021	NM_001330691.3(CEP78):c.71C>T (p.Ala24Val)	CEP78 (A24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1625610	NM_001330691.3(CEP78):c.72G>T (p.Ala24=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539361	NM_001330691.3(CEP78):c.72G>A (p.Ala24=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2266487	NM_001330691.3(CEP78):c.73C>G (p.Leu25Val)	CEP78 (L25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512974	NM_001330691.3(CEP78):c.74T>C (p.Leu25Pro)	CEP78 (L25P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 867122	NM_001330691.3(CEP78):c.76C>T (p.Gln26Ter)	CEP78 (Q26*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3143055	NM_001330691.3(CEP78):c.80A>G (p.Asn27Ser)	CEP78 (N27S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 517538	NM_001330691.3(CEP78):c.84G>C (p.Ser28=)	CEP78	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3266271	NM_001330691.3(CEP78):c.85G>C (p.Val29Leu)	CEP78 (V29L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1493299	NM_001330691.3(CEP78):c.89C>A (p.Pro30Gln)	CEP78 (P30Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974611	NM_001330691.3(CEP78):c.90G>A (p.Pro30=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780835	NM_001330691.3(CEP78):c.90G>C (p.Pro30=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099914	NM_001330691.3(CEP78):c.90G>T (p.Pro30=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1045719	NM_001330691.3(CEP78):c.94C>T (p.Pro32Ser)	CEP78 (P32S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116645	NM_001330691.3(CEP78):c.96C>G (p.Pro32=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007482	NM_001330691.3(CEP78):c.99C>T (p.Ala33=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 667093	NM_001330691.3(CEP78):c.103C>T (p.Arg35Cys)	CEP78 (R35C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1463107	NM_001330691.3(CEP78):c.104G>T (p.Arg35Leu)	CEP78 (R35L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1391227	NM_001330691.3(CEP78):c.106G>A (p.Ala36Thr)	CEP78 (A36T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy and hearing loss 1 +1 more	GUncertain significance
Select item 1363676	NM_001330691.3(CEP78):c.109T>C (p.Cys37Arg)	CEP78 (C37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1546206	NM_001330691.3(CEP78):c.114C>T (p.Leu38=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1022448	NM_001330691.3(CEP78):c.116G>C (p.Arg39Pro)	CEP78 (R39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3054686	NM_001330691.3(CEP78):c.120G>A (p.Glu40=)	CEP78	Single nucleotide variant (synonymous variant)	CEP78-related disorder	GLikely benign
Select item 667090	NM_001330691.3(CEP78):c.120G>C (p.Glu40Asp)	CEP78 (E40D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1463918	NM_001330691.3(CEP78):c.122G>T (p.Gly41Val)	CEP78 (G41V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1003040	NM_001330691.3(CEP78):c.122G>C (p.Gly41Ala)	CEP78 (G41A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461174	NM_001330691.3(CEP78):c.124G>T (p.Val42Leu)	CEP78 (V42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1085939	NM_001330691.3(CEP78):c.126G>A (p.Val42=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970512	NM_001330691.3(CEP78):c.128T>G (p.Leu43Arg)	CEP78 (L43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715410	NM_001330691.3(CEP78):c.128T>C (p.Leu43Pro)	CEP78 (L43P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110204	NM_001330691.3(CEP78):c.130G>T (p.Asp44Tyr)	CEP78 (D44Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378267	NM_001330691.3(CEP78):c.133T>A (p.Phe45Ile)	CEP78 (F45I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854793	NM_001330691.3(CEP78):c.139G>A (p.Ala47Thr)	CEP78 (A47T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1927649	NM_001330691.3(CEP78):c.140C>G (p.Ala47Gly)	CEP78 (A47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963452	NM_001330691.3(CEP78):c.142G>A (p.Asp48Asn)	CEP78 (D48N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013059	NM_001330691.3(CEP78):c.144C>T (p.Asp48=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1022993	NM_001330691.3(CEP78):c.148C>T (p.Leu50Phe)	CEP78 (L50F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855126	NM_001330691.3(CEP78):c.151C>A (p.Arg51Ser)	CEP78 (R51S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015563	NM_001330691.3(CEP78):c.157G>T (p.Val53Leu)	CEP78 (V53L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937162	NM_001330691.3(CEP78):c.167C>T (p.Ala56Val)	CEP78 (A56V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2237107	NM_001330691.3(CEP78):c.169C>T (p.Pro57Ser)	CEP78 (P57S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1528102	NM_001330691.3(CEP78):c.175C>T (p.Leu59=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 860076	NM_001330691.3(CEP78):c.181A>T (p.Thr61Ser)	CEP78 (T61S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004904	NM_001330691.3(CEP78):c.194A>G (p.Asn65Ser)	CEP78 (N65S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963903	NM_001330691.3(CEP78):c.199G>A (p.Asp67Asn)	CEP78 (D67N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649558	NM_001330691.3(CEP78):c.202C>T (p.Leu68=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976418	NM_001330691.3(CEP78):c.207C>T (p.Pro69=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 867155	NM_001330691.3(CEP78):c.211del (p.Val71fs)	CEP78 (V71fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 1952855	NM_001330691.3(CEP78):c.219C>T (p.Ile73=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425213	NM_001330691.3(CEP78):c.221A>G (p.Lys74Arg)	CEP78 (K74R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061169	NM_001330691.3(CEP78):c.222G>C (p.Lys74Asn)	CEP78 (K74N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955510	NM_001330691.3(CEP78):c.225C>T (p.Ser75=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037166	NM_001330691.3(CEP78):c.228C>T (p.Phe76=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1361942	NM_001330691.3(CEP78):c.233A>C (p.Gln78Pro)	CEP78 (Q78P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465206	NM_001330691.3(CEP78):c.234G>T (p.Gln78His)	CEP78 (Q78H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021627	NM_001330691.3(CEP78):c.241C>G (p.Leu81Val)	CEP78 (L81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1608271	NM_001330691.3(CEP78):c.246G>A (p.Gly82=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 517539	NM_001330691.3(CEP78):c.253+8G>A	CEP78	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2099482	NM_001330691.3(CEP78):c.253+11C>A	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1929812	NM_001330691.3(CEP78):c.253+12C>T	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610500	NM_001330691.3(CEP78):c.253+19C>T	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165606	NM_001330691.3(CEP78):c.253+20A>G	CEP78	Single nucleotide variant (intron variant)	not provided	GBenign

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