ClinVar for Gene (Select 84131) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370363	CEP78, PRO392LEU	CEP78	Single nucleotide variant	Cone-rod dystrophy and hearing loss 1	GPathogenic
Select item 3370362	CEP78, SER147LEU	CEP78	Single nucleotide variant	Cone-rod dystrophy and hearing loss 1	GPathogenic
Select item 3336680	NM_001330691.3(CEP78):c.604-2A>C	CEP78	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy and hearing loss 1	GLikely pathogenic
Select item 3266274	NM_001330691.3(CEP78):c.812A>G (p.Glu271Gly)	CEP78 (E271G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266273	NM_001330691.3(CEP78):c.1462G>A (p.Glu488Lys)	CEP78 (E488K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266272	NM_001330691.3(CEP78):c.1043A>C (p.His348Pro)	CEP78 (H348P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3266270	NM_001330691.3(CEP78):c.283C>G (p.Arg95Gly)	CEP78 (R95G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266269	NM_001330691.3(CEP78):c.527T>A (p.Ile176Asn)	CEP78 (I176N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266268	NM_001330691.3(CEP78):c.776G>A (p.Arg259Lys)	CEP78 (R259K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3143054	NM_001330691.3(CEP78):c.666T>A (p.Asp222Glu)	CEP78 (D222E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143052	NM_001330691.3(CEP78):c.565A>G (p.Thr189Ala)	CEP78 (T189A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143051	NM_001330691.3(CEP78):c.368A>G (p.Lys123Arg)	CEP78 (K123R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3143050	NM_001330691.3(CEP78):c.284G>C (p.Arg95Pro)	CEP78 (R95P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143049	NM_001330691.3(CEP78):c.2107+37C>G	CEP78 (P700R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143048	NM_001330691.3(CEP78):c.1331G>C (p.Ser444Thr)	CEP78 (S444T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3057692	NM_001330691.3(CEP78):c.1137C>G (p.Pro379=)	CEP78	Single nucleotide variant (synonymous variant)	CEP78-related disorder	GLikely benign
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 3013059	NM_001330691.3(CEP78):c.144C>T (p.Asp48=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011462	NM_001330691.3(CEP78):c.1206-2A>G	CEP78	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3007482	NM_001330691.3(CEP78):c.99C>T (p.Ala33=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005164	NM_001330691.3(CEP78):c.878A>G (p.Lys293Arg)	CEP78 (K293R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998724	NM_001330691.3(CEP78):c.957+14T>C	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998454	NM_001330691.3(CEP78):c.892+16A>G	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990139	NM_001330691.3(CEP78):c.1550A>G (p.Asp517Gly)	CEP78 (D517G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988027	NM_001330691.3(CEP78):c.1206-13G>A	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984198	NM_001330691.3(CEP78):c.1205+13del	CEP78	Deletion (intron variant)	not provided	GBenign
Select item 2980974	NM_001330691.3(CEP78):c.957+20T>C	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975414	NM_001330691.3(CEP78):c.661_665del (p.Pro221fs)	CEP78 (P221fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2974611	NM_001330691.3(CEP78):c.90G>A (p.Pro30=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970065	NM_001330691.3(CEP78):c.1251+14A>G	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960839	NM_001330691.3(CEP78):c.892+7C>G	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874600	NM_001330691.3(CEP78):c.427-11C>G	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872044	NM_001330691.3(CEP78):c.64C>T (p.Leu22=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833839	NM_001330691.3(CEP78):c.333T>C (p.Ala111=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823042	NM_001330691.3(CEP78):c.711del (p.Asn237fs)	CEP78 (N237fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2813627	NM_001330691.3(CEP78):c.958-3del	CEP78	Deletion (intron variant)	not provided	GBenign
Select item 2807705	NM_001330691.3(CEP78):c.1206-10A>G	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801474	NM_001330691.3(CEP78):c.1797+15C>T	CEP78	Single nucleotide variant (intron 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 2754659	NM_001330691.3(CEP78):c.1273G>T (p.Val425Leu)	CEP78 (V425L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751058	NM_001330691.3(CEP78):c.1554del (p.Gly519fs)	CEP78 (G519fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2737535	NM_001330691.3(CEP78):c.1285_1288dup (p.Pro430fs)	CEP78 (P430fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2709187	NM_001330691.3(CEP78):c.349_352del (p.Ser117fs)	CEP78 (S117fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2707257	NM_001330691.3(CEP78):c.2107+23T>A	CEP78	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2706480	NM_001330691.3(CEP78):c.1327G>T (p.Glu443Ter)	CEP78 (E444* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2706155	NM_001330691.3(CEP78):c.892+2T>A	CEP78	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2700723	NM_001330691.3(CEP78):c.779-14T>G	CEP78	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2700109	NM_001330691.3(CEP78):c.1649_1653dup (p.Ile552fs)	CEP78 (I552fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2695569	NM_001330691.3(CEP78):c.1205+10T>A	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2604715	NM_001330691.3(CEP78):c.1702A>G (p.Thr568Ala)	CEP78 (T569A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2524059	NM_001330691.3(CEP78):c.283C>T (p.Arg95Cys)	CEP78 (R95C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509171	NM_001330691.3(CEP78):c.1057A>G (p.Thr353Ala)	CEP78 (T353A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498281	NM_001330691.3(CEP78):c.1369G>T (p.Glu457Ter)	CEP78 (E457* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy and hearing loss 1	GPathogenic
Select item 2423691	NC_000009.11:g.(?_80851266)_(80856548_?)del	CEP78	Deletion	not provided	GPathogenic
Select item 2423690	NC_000009.11:g.(?_80854919)_(80856735_?)del	CEP78	Deletion	not provided	GPathogenic
Select item 2423689	NC_000009.11:g.(?_80881338)_(80881678_?)del	CEP78	Deletion	not provided	GUncertain significance
Select item 2416569	NM_001330691.3(CEP78):c.1138G>T (p.Ala380Ser)	CEP78 (A380S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2372855	NM_001330691.3(CEP78):c.655A>G (p.Arg219Gly)	CEP78 (R219G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302820	NM_001330691.3(CEP78):c.1010A>G (p.Gln337Arg)	CEP78 (Q337R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302077	NM_001330691.3(CEP78):c.445T>G (p.Ser149Ala)	CEP78 (S149A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296836	NM_001330691.3(CEP78):c.718A>G (p.Ile240Val)	CEP78 (I240V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2189550	NM_001330691.3(CEP78):c.1950A>G (p.Gly650=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177704	NM_001330691.3(CEP78):c.1346C>T (p.Pro449Leu)	CEP78 (P450L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175508	NM_001330691.3(CEP78):c.1165T>C (p.Phe389Leu)	CEP78 (F390L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164471	NM_001330691.3(CEP78):c.1698_1701del (p.Ser567fs)	CEP78 (S568fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2163994	NM_001330691.3(CEP78):c.889A>G (p.Ile297Val)	CEP78 (I297V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145945	NM_001330691.3(CEP78):c.1428A>G (p.Ile476Met)	CEP78 (I476M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140413	NM_001330691.3(CEP78):c.1736C>T (p.Ala579Val)	CEP78 (A580V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2132805	NM_001330691.3(CEP78):c.543_556del (p.Val181_Asn182insTer)	CEP78	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2132315	NM_001330691.3(CEP78):c.1217T>C (p.Leu406Ser)	CEP78 (L406S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131046	NM_001330691.3(CEP78):c.566C>T (p.Thr189Ile)	CEP78 (T189I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130679	NM_001330691.3(CEP78):c.1845+3A>G	CEP78	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2130375	NM_001330691.3(CEP78):c.697A>G (p.Thr233Ala)	CEP78 (T233A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125110	NM_001330691.3(CEP78):c.493T>G (p.Leu165Val)	CEP78 (L165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125095	NM_001330691.3(CEP78):c.1736C>A (p.Ala579Glu)	CEP78 (A579E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124087	NM_001330691.3(CEP78):c.725A>C (p.Asp242Ala)	CEP78 (D242A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120518	NM_001330691.3(CEP78):c.1741G>A (p.Glu581Lys)	CEP78 (E581K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116925	NM_001330691.3(CEP78):c.1812G>A (p.Met604Ile)	CEP78 (M605I +1 more)	Single nucleotide variant (missense variant +1 more)	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 2111248	NM_001330691.3(CEP78):c.2031T>C (p.Ser677=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110839	NM_001330691.3(CEP78):c.697A>T (p.Thr233Ser)	CEP78 (T233S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110747	NM_001330691.3(CEP78):c.1754C>G (p.Pro585Arg)	CEP78 (P585R +1 more)	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 2105849	NM_001330691.3(CEP78):c.2003T>C (p.Met668Thr)	CEP78 (M652T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102881	NM_001330691.3(CEP78):c.912A>C (p.Ala304=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101877	NM_001330691.3(CEP78):c.54C>T (p.His18=)	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 2099482	NM_001330691.3(CEP78):c.253+11C>A	CEP78	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098548	NM_001330691.3(CEP78):c.1205+2T>A	CEP78	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2092618	NM_001330691.3(CEP78):c.1561T>C (p.Leu521=)	CEP78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2090078	NM_001330691.3(CEP78):c.1995T>G (p.Ile665Met)	CEP78 (I649M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2086776	NM_001330691.3(CEP78):c.1109A>C (p.His370Pro)	CEP78 (H371P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083541	NM_001330691.3(CEP78):c.1292dup (p.Ser432fs)	CEP78 (S432fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic

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