CEP72[gene] and "single gene"[properties] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2258815	NM_018140.4(CEP72):c.5C>G (p.Ala2Gly)	CEP72 (A2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143035	NM_018140.4(CEP72):c.7C>G (p.Arg3Gly)	CEP72 (R3G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143024	NM_018140.4(CEP72):c.16C>T (p.Pro6Ser)	CEP72 (P6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266259	NM_018140.4(CEP72):c.25G>A (p.Val9Met)	CEP72 (V9M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510541	NM_018140.4(CEP72):c.50C>G (p.Ala17Gly)	CEP72 (A17G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143036	NM_018140.4(CEP72):c.80T>C (p.Leu27Pro)	CEP72 (L27P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143028	NM_018140.4(CEP72):c.257A>G (p.Asn86Ser)	CEP72 (N86S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143029	NM_018140.4(CEP72):c.286C>T (p.Arg96Trp)	CEP72 (R96W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266258	NM_018140.4(CEP72):c.337G>A (p.Val113Met)	CEP72 (V113M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539238	NM_018140.4(CEP72):c.362G>A (p.Arg121His)	CEP72 (R121H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775221	NM_018140.4(CEP72):c.405C>T (p.Asp135=)	CEP72	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2349880	NM_018140.4(CEP72):c.406G>A (p.Asp136Asn)	CEP72 (D136N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411187	NM_018140.4(CEP72):c.410G>A (p.Arg137His)	CEP72 (R137H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143030	NM_018140.4(CEP72):c.415G>A (p.Val139Met)	CEP72 (V139M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548148	NM_018140.4(CEP72):c.431G>A (p.Arg144Gln)	CEP72 (R144Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603299	NM_018140.4(CEP72):c.453T>G (p.Phe151Leu)	CEP72 (F151L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547510	NM_018140.4(CEP72):c.472G>A (p.Asp158Asn)	CEP72 (D158N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292987	NM_018140.4(CEP72):c.532A>G (p.Lys178Glu)	CEP72 (K178E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486588	NM_018140.4(CEP72):c.554A>G (p.Lys185Arg)	CEP72 (K185R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143031	NM_018140.4(CEP72):c.565G>A (p.Val189Ile)	CEP72 (V189I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231275	NM_018140.4(CEP72):c.575C>T (p.Ala192Val)	CEP72 (A192V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2248050	NM_018140.4(CEP72):c.612C>G (p.Cys204Trp)	CEP72 (C204W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143032	NM_018140.4(CEP72):c.665G>A (p.Arg222His)	CEP72 (R222H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342530	NM_018140.4(CEP72):c.677C>G (p.Ser226Cys)	CEP72 (S226C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568499	NM_018140.4(CEP72):c.680G>A (p.Arg227His)	CEP72 (R227H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2556055	NM_018140.4(CEP72):c.722T>G (p.Val241Gly)	CEP72 (V241G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304429	NM_018140.4(CEP72):c.732G>T (p.Gln244His)	CEP72 (Q244H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229565	NM_018140.4(CEP72):c.736G>C (p.Gly246Arg)	CEP72 (G246R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393284	NM_018140.4(CEP72):c.743C>A (p.Ser248Tyr)	CEP72 (S248Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327575	NM_018140.4(CEP72):c.754G>A (p.Gly252Ser)	CEP72 (G252S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143034	NM_018140.4(CEP72):c.764C>T (p.Thr255Met)	CEP72 (T255M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361024	NM_018140.4(CEP72):c.833C>T (p.Pro278Leu)	CEP72 (P278L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513059	NM_018140.4(CEP72):c.856G>A (p.Glu286Lys)	CEP72 (E286K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143037	NM_018140.4(CEP72):c.865C>T (p.Arg289Cys)	CEP72 (R289C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143038	NM_018140.4(CEP72):c.866G>C (p.Arg289Pro)	CEP72 (R289P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344370	NM_018140.4(CEP72):c.884C>T (p.Thr295Met)	CEP72 (T295M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2559426	NM_018140.4(CEP72):c.1004G>A (p.Arg335Gln)	CEP72 (R335Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383627	NM_018140.4(CEP72):c.1064A>G (p.Glu355Gly)	CEP72 (E355G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556144	NM_018140.4(CEP72):c.1079C>A (p.Ser360Tyr)	CEP72 (S360Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306818	NM_018140.4(CEP72):c.1111G>C (p.Asp371His)	CEP72 (D371H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360573	NM_018140.4(CEP72):c.1160C>T (p.Ser387Leu)	CEP72 (S387L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2368918	NM_018140.4(CEP72):c.1183C>T (p.Arg395Trp)	CEP72 (R395W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266257	NM_018140.4(CEP72):c.1186G>A (p.Gly396Ser)	CEP72 (G396S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3266261	NM_018140.4(CEP72):c.1208C>T (p.Pro403Leu)	CEP72 (P403L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283925	NM_018140.4(CEP72):c.1262C>T (p.Ala421Val)	CEP72 (A421V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550263	NM_018140.4(CEP72):c.1274C>T (p.Thr425Met)	CEP72 (T425M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311889	NM_018140.4(CEP72):c.1336T>C (p.Phe446Leu)	CEP72 (F446L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2565488	NM_018140.4(CEP72):c.1348G>A (p.Ala450Thr)	CEP72 (A450T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569954	NM_018140.4(CEP72):c.1459C>T (p.Arg487Cys)	CEP72 (R487C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472931	NM_018140.4(CEP72):c.1490G>A (p.Arg497Gln)	CEP72 (R497Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266255	NM_018140.4(CEP72):c.1541A>T (p.Asp514Val)	CEP72 (D514V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607149	NM_018140.4(CEP72):c.1672C>G (p.Gln558Glu)	CEP72 (Q558E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143023	NM_018140.4(CEP72):c.1676C>G (p.Thr559Arg)	CEP72 (T559R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456972	NM_018140.4(CEP72):c.1718A>G (p.Gln573Arg)	CEP72 (Q573R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266260	NM_018140.4(CEP72):c.1747G>C (p.Glu583Gln)	CEP72 (E583Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143025	NM_018140.4(CEP72):c.1793C>T (p.Thr598Ile)	CEP72 (T598I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390973	NM_018140.4(CEP72):c.1846G>A (p.Glu616Lys)	CEP72 (E616K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143026	NM_018140.4(CEP72):c.1891A>G (p.Met631Val)	CEP72 (M631V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 58