CEP89[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 560031	Single allele	CEP89, SLC7A9	Deletion	Cystinuria	GLikely pathogenic
Select item 2195354	NM_032816.5(CEP89):c.2351A>T (p.Ter784Leu)	CEP89	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1669354	NM_032816.5(CEP89):c.2350T>C (p.Ter784Gln)	CEP89	Single nucleotide variant (stop lost)	not provided	GBenign
Select item 1943688	NM_032816.5(CEP89):c.2339C>A (p.Ala780Asp)	CEP89 (A780D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579631	NM_032816.5(CEP89):c.2336A>T (p.His779Leu)	CEP89 (H779L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2252403	NM_032816.5(CEP89):c.2329A>C (p.Lys777Gln)	CEP89 (K777Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2414916	NM_032816.5(CEP89):c.2321A>G (p.Tyr774Cys)	CEP89 (Y774C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507541	NM_032816.5(CEP89):c.2318C>T (p.Ser773Phe)	CEP89 (S773F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1938269	NM_032816.5(CEP89):c.2310T>C (p.Asp770=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494647	NM_032816.5(CEP89):c.2308G>A (p.Asp770Asn)	CEP89 (D770N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3015026	NM_032816.5(CEP89):c.2302G>A (p.Gly768Ser)	CEP89 (G768S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894395	NM_032816.5(CEP89):c.2301C>T (p.Asp767=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3143086	NM_032816.5(CEP89):c.2286G>C (p.Gln762His)	CEP89 (Q762H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3016169	NM_032816.5(CEP89):c.2278G>A (p.Val760Ile)	CEP89 (V760I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731625	NM_032816.5(CEP89):c.2277C>T (p.Gly759=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599009	NM_032816.5(CEP89):c.2259T>G (p.Val753=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2481023	NM_032816.5(CEP89):c.2237A>T (p.Gln746Leu)	CEP89 (Q746L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2976424	NM_032816.5(CEP89):c.2232C>T (p.Gly744=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526990	NM_032816.5(CEP89):c.2222C>T (p.Thr741Met)	CEP89 (T741M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2062187	NM_032816.5(CEP89):c.2197C>T (p.Arg733Ter)	CEP89 (R733*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2164602	NM_032816.5(CEP89):c.2189G>A (p.Arg730Gln)	CEP89 (R730Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928815	NM_032816.5(CEP89):c.2170T>C (p.Ser724Pro)	CEP89 (S724P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1639334	NM_032816.5(CEP89):c.2135+14C>A	CEP89	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926997	NM_032816.5(CEP89):c.2135+12G>A	CEP89	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988250	NM_032816.5(CEP89):c.2125C>A (p.Gln709Lys)	CEP89 (Q709K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171099	NM_032816.5(CEP89):c.2121G>A (p.Ala707=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1380861	NM_032816.5(CEP89):c.2120C>T (p.Ala707Val)	CEP89 (A707V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3266285	NM_032816.5(CEP89):c.2117A>T (p.Gln706Leu)	CEP89 (Q706L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1411776	NM_032816.5(CEP89):c.2072G>A (p.Arg691Gln)	CEP89 (R691Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1559859	NM_032816.5(CEP89):c.2071C>T (p.Arg691Trp)	CEP89 (R691W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1616052	NM_032816.5(CEP89):c.2061G>T (p.Arg687=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026444	NM_032816.5(CEP89):c.2060G>A (p.Arg687Gln)	CEP89 (R687Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901765	NM_032816.5(CEP89):c.2059C>T (p.Arg687Trp)	CEP89 (R687W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464990	NM_032816.5(CEP89):c.2058C>G (p.Tyr686Ter)	CEP89 (Y686*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2862279	NM_032816.5(CEP89):c.2053C>T (p.Gln685Ter)	CEP89 (Q685*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2620122	NM_032816.5(CEP89):c.2041G>C (p.Gly681Arg)	CEP89 (G681R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1905809	NM_032816.5(CEP89):c.2040C>T (p.Ala680=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082507	NM_032816.5(CEP89):c.2038G>A (p.Ala680Thr)	CEP89 (A680T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1432083	NM_032816.5(CEP89):c.2029G>C (p.Glu677Gln)	CEP89 (E677Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1496626	NM_032816.5(CEP89):c.2012G>A (p.Arg671His)	CEP89 (R671H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1986654	NM_032816.5(CEP89):c.2011C>T (p.Arg671Cys)	CEP89 (R671C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961496	NM_032816.5(CEP89):c.1993C>T (p.Leu665=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236614	NM_032816.5(CEP89):c.1967G>A (p.Gly656Asp)	CEP89 (G656D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1586489	NM_032816.5(CEP89):c.1966-7C>T	CEP89	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2154197	NM_032816.5(CEP89):c.1966-10C>T	CEP89	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1933687	NM_032816.5(CEP89):c.1965+5G>A	CEP89	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2862830	NM_032816.5(CEP89):c.1962C>A (p.Val654=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808507	NM_032816.5(CEP89):c.1927A>G (p.Ser643Gly)	CEP89 (S643G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2167506	NM_032816.5(CEP89):c.1917A>G (p.Lys639=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963290	NM_032816.5(CEP89):c.1882dup (p.Cys628fs)	CEP89 (C628fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2053386	NM_032816.5(CEP89):c.1876-7T>C	CEP89	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2721100	NM_032816.5(CEP89):c.1875+9C>T	CEP89	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751963	NM_032816.5(CEP89):c.1856G>A (p.Arg619His)	CEP89 (R619H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493317	NM_032816.5(CEP89):c.1855C>T (p.Arg619Cys)	CEP89 (R619C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903517	NM_032816.5(CEP89):c.1853A>G (p.Glu618Gly)	CEP89 (E618G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892408	NM_032816.5(CEP89):c.1847C>T (p.Thr616Ile)	CEP89 (T616I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631443	NM_032816.5(CEP89):c.1842C>T (p.Asn614=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2558984	NM_032816.5(CEP89):c.1829G>T (p.Gly610Val)	CEP89 (G610V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2086137	NM_032816.5(CEP89):c.1824T>A (p.Leu608=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966710	NM_032816.5(CEP89):c.1816G>A (p.Ala606Thr)	CEP89 (A606T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027156	NM_032816.5(CEP89):c.1801G>C (p.Ala601Pro)	CEP89 (A601P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138625	NM_032816.5(CEP89):c.1791C>T (p.Asn597=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083696	NM_032816.5(CEP89):c.1774G>T (p.Glu592Ter)	CEP89 (E592*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3010491	NM_032816.5(CEP89):c.1734-13G>A	CEP89	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2771341	NM_032816.5(CEP89):c.1734-13G>T	CEP89	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978484	NM_032816.5(CEP89):c.1734-18T>C	CEP89	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987278	NM_032816.5(CEP89):c.1734-20C>T	CEP89	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1670753	NM_032816.5(CEP89):c.1733+6T>A	CEP89	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2763733	NM_032816.5(CEP89):c.1733G>A (p.Arg578Lys)	CEP89 (R578K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397022	NM_032816.5(CEP89):c.1708C>G (p.Leu570Val)	CEP89 (L570V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985146	NM_032816.5(CEP89):c.1704C>T (p.Ala568=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1515543	NM_032816.5(CEP89):c.1700A>C (p.Glu567Ala)	CEP89 (E567A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3143085	NM_032816.5(CEP89):c.1689del (p.Asn563fs)	CEP89 (N563fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2721473	NM_032816.5(CEP89):c.1683G>A (p.Glu561=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2294304	NM_032816.5(CEP89):c.1671C>G (p.Asn557Lys)	CEP89 (N557K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1617636	NM_032816.5(CEP89):c.1661T>C (p.Leu554Ser)	CEP89 (L554S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2316143	NM_032816.5(CEP89):c.1653C>G (p.Ser551Arg)	CEP89 (S551R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2712861	NM_032816.5(CEP89):c.1641G>A (p.Ala547=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596164	NM_032816.5(CEP89):c.1640C>T (p.Ala547Val)	CEP89 (A547V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1946368	NM_032816.5(CEP89):c.1607A>G (p.Glu536Gly)	CEP89 (E536G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764732	NM_032816.5(CEP89):c.1601A>G (p.Glu534Gly)	CEP89 (E534G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3266288	NM_032816.5(CEP89):c.1595G>C (p.Arg532Thr)	CEP89 (R532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2909726	NM_032816.5(CEP89):c.1585G>T (p.Glu529Ter)	CEP89 (E529*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1923227	NM_032816.5(CEP89):c.1565+10T>G	CEP89	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3143082	NM_032816.5(CEP89):c.1528G>C (p.Val510Leu)	CEP89 (V510L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2146899	NM_032816.5(CEP89):c.1525G>A (p.Ala509Thr)	CEP89 (A509T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723589	NM_032816.5(CEP89):c.1512G>A (p.Ser504=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256119	NM_032816.5(CEP89):c.1511C>T (p.Ser504Leu)	CEP89 (S504L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1627234	NM_032816.5(CEP89):c.1497A>T (p.Glu499Asp)	CEP89 (E499D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 791354	NM_032816.5(CEP89):c.1481G>A (p.Arg494His)	CEP89 (R494H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786354	NM_032816.5(CEP89):c.1480C>T (p.Arg494Cys)	CEP89 (R494C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2247005	NM_032816.5(CEP89):c.1462G>A (p.Glu488Lys)	CEP89 (E488K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2068792	NM_032816.5(CEP89):c.1452G>A (p.Ala484=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966079	NM_032816.5(CEP89):c.1452G>C (p.Ala484=)	CEP89	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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