1859[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 152798	GRCh38/hg38 20q11.22(chr20:35285724-35744837)x1	C20orf173, CEP250 +35 more	Copy number loss	See cases	GPathogenic
Select item 1105187	NM_007186.6(CEP250):c.6G>A (p.Glu2=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2823881	NM_007186.6(CEP250):c.15C>T (p.Ser5=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1559574	NM_007186.6(CEP250):c.24G>A (p.Leu8=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2789664	NM_007186.6(CEP250):c.30C>T (p.Asn10=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1942708	NM_007186.6(CEP250):c.30C>A (p.Asn10Lys)	CEP250 (N10K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1013688	NM_007186.6(CEP250):c.49C>A (p.Gln17Lys)	CEP250 (Q17K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2090797	NM_007186.6(CEP250):c.51G>C (p.Gln17His)	CEP250 (Q17H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2252783	NM_007186.6(CEP250):c.55G>C (p.Val19Leu)	CEP250 (V19L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1126175	NM_007186.6(CEP250):c.58C>T (p.Leu20=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1947185	NM_007186.6(CEP250):c.72G>T (p.Val24=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3142789	NM_007186.6(CEP250):c.73C>G (p.Leu25Val)	CEP250 (L25V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2984889	NM_007186.6(CEP250):c.73C>T (p.Leu25=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2001760	NM_007186.6(CEP250):c.90G>C (p.Gln30His)	CEP250 (Q30H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1376746	NM_007186.6(CEP250):c.94dup (p.Ala32fs)	CEP250 (A32fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1486272	NM_007186.6(CEP250):c.99G>T (p.Glu33Asp)	CEP250 (E33D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3266131	NM_007186.6(CEP250):c.100A>G (p.Asn34Asp)	CEP250 (N34D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2000745	NM_007186.6(CEP250):c.106G>A (p.Ala36Thr)	CEP250 (A36T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1424535	NM_007186.6(CEP250):c.119G>A (p.Arg40Gln)	CEP250 (R40Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1370211	NM_007186.6(CEP250):c.123G>C (p.Lys41Asn)	CEP250 (K41N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1471060	NM_007186.6(CEP250):c.139G>A (p.Glu47Lys)	CEP250 (E47K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1350137	NM_007186.6(CEP250):c.158C>A (p.Ala53Glu)	CEP250 (A53E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1544640	NM_007186.6(CEP250):c.186+14C>G	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1108822	NM_007186.6(CEP250):c.186+15C>G	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975943	NM_007186.6(CEP250):c.186+16T>G	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923826	NM_007186.6(CEP250):c.186+18T>C	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544136	NM_007186.6(CEP250):c.186+19T>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998450	NM_007186.6(CEP250):c.187-16G>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533231	NM_007186.6(CEP250):c.187-16G>C	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995820	NM_007186.6(CEP250):c.187-5T>C	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2044435	NM_007186.6(CEP250):c.195G>A (p.Gln65=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1937734	NM_007186.6(CEP250):c.199C>T (p.Arg67Ter)	CEP250 (R67*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1474424	NM_007186.6(CEP250):c.200G>A (p.Arg67Gln)	CEP250 (R67Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 849098	NM_007186.6(CEP250):c.227G>A (p.Arg76Gln)	CEP250 (R76Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1916554	NM_007186.6(CEP250):c.228G>A (p.Arg76=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1125748	NM_007186.6(CEP250):c.228G>T (p.Arg76=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2492899	NM_007186.6(CEP250):c.241G>A (p.Gly81Arg)	CEP250 (G81R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1004057	NM_007186.6(CEP250):c.242G>C (p.Gly81Ala)	CEP250 (G81A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1904123	NM_007186.6(CEP250):c.243+12T>C	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645958	NM_007186.6(CEP250):c.244-10_244-7del	CEP250	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1519211	NM_007186.6(CEP250):c.244-9C>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1150197	NM_007186.6(CEP250):c.244-6G>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1143147	NM_007186.6(CEP250):c.244-5C>T	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1968098	NM_007186.6(CEP250):c.244-4G>T	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1617640	NM_007186.6(CEP250):c.244-4G>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1495799	NM_007186.6(CEP250):c.245G>A (p.Gly82Glu)	CEP250 (G82E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 954912	NM_007186.6(CEP250):c.247C>T (p.Pro83Ser)	CEP250 (P83S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1498868	NM_007186.6(CEP250):c.248C>T (p.Pro83Leu)	CEP250 (P83L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1926195	NM_007186.6(CEP250):c.255C>A (p.Pro85=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1632843	NM_007186.6(CEP250):c.255C>T (p.Pro85=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2101691	NM_007186.6(CEP250):c.256C>G (p.Gln86Glu)	CEP250 (Q86E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 858067	NM_007186.6(CEP250):c.257A>G (p.Gln86Arg)	CEP250 (Q86R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1451443	NM_007186.6(CEP250):c.263G>A (p.Trp88Ter)	CEP250 (W88*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2880757	NM_007186.6(CEP250):c.273G>A (p.Val91=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1511486	NM_007186.6(CEP250):c.274G>A (p.Glu92Lys)	CEP250 (E92K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 959127	NM_007186.6(CEP250):c.277G>A (p.Glu93Lys)	CEP250 (E93K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1512366	NM_007186.6(CEP250):c.280C>A (p.Pro94Thr)	CEP250 (P94T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1001062	NM_007186.6(CEP250):c.283A>G (p.Asn95Asp)	CEP250 (N95D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2130330	NM_007186.6(CEP250):c.303C>T (p.Val101=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 938452	NM_007186.6(CEP250):c.304C>T (p.Arg102Ter)	CEP250 (R102*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 937192	NM_007186.6(CEP250):c.305G>A (p.Arg102Gln)	CEP250 (R102Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 970189	NM_007186.6(CEP250):c.320A>G (p.Gln107Arg)	CEP250 (Q107R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2824814	NM_007186.6(CEP250):c.326+10C>T	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648110	NM_007186.6(CEP250):c.326+14A>G	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2002953	NM_007186.6(CEP250):c.327-15C>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920373	NM_007186.6(CEP250):c.327-9C>G	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1423113	NM_007186.6(CEP250):c.327-4G>A	CEP250	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1001793	NM_007186.6(CEP250):c.327G>A (p.Arg109=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1359477	NM_007186.6(CEP250):c.337del (p.Ser112_Leu113insTer)	CEP250	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1165149	NM_007186.6(CEP250):c.353C>T (p.Thr118Ile)	CEP250 (T118I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1645369	NM_007186.6(CEP250):c.357G>A (p.Gln119=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 620659	NM_007186.6(CEP250):c.361C>T (p.Arg121Ter)	CEP250 (R121*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cone-rod dystrophy and hearing loss 2	GPathogenic
Select item 1911127	NM_007186.6(CEP250):c.362G>A (p.Arg121Gln)	CEP250 (R121Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1938435	NM_007186.6(CEP250):c.366G>A (p.Leu122=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2137118	NM_007186.6(CEP250):c.369C>T (p.His123=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1421430	NM_007186.6(CEP250):c.370A>T (p.Met124Leu)	CEP250 (M124L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 724711	NM_007186.6(CEP250):c.384C>T (p.Asp128=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2107815	NM_007186.6(CEP250):c.385G>A (p.Val129Met)	CEP250 (V129M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1970888	NM_007186.6(CEP250):c.387G>A (p.Val129=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1661653	NM_007186.6(CEP250):c.399C>T (p.Ala133=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2795994	NM_007186.6(CEP250):c.402T>C (p.Leu134=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1565668	NM_007186.6(CEP250):c.405G>A (p.Arg135=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1151515	NM_007186.6(CEP250):c.411T>C (p.Asp137=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1004667	NM_007186.6(CEP250):c.412G>A (p.Val138Met)	CEP250 (V138M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1949785	NM_007186.6(CEP250):c.434G>A (p.Trp145Ter)	CEP250 (W145*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2733217	NM_007186.6(CEP250):c.439del (p.Arg147fs)	CEP250 (R147fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1064320	NM_007186.6(CEP250):c.439C>T (p.Arg147Trp)	CEP250 (R147W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1429600	NM_007186.6(CEP250):c.440G>A (p.Arg147Gln)	CEP250 (R147Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1042557	NM_007186.6(CEP250):c.446G>A (p.Arg149Gln)	CEP250 (R149Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1664065	NM_007186.6(CEP250):c.447G>A (p.Arg149=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3266135	NM_007186.6(CEP250):c.451G>A (p.Glu151Lys)	CEP250 (E151K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2999204	NM_007186.6(CEP250):c.454C>T (p.Leu152=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1409067	NM_007186.6(CEP250):c.461G>A (p.Arg154Lys)	CEP250 (R154K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2992897	NM_007186.6(CEP250):c.467A>G (p.Glu156Gly)	CEP250 (E156G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1951096	NM_007186.6(CEP250):c.468G>A (p.Glu156=)	CEP250	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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