ClinVar for Gene (Select 55722) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3266256	NM_018140.4(CEP72):c.1613A>G (p.Lys538Arg)	CEP72, LOC132089292 (K538R)	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 3181573	NM_007030.3(TPPP):c.592G>A (p.Glu198Lys)	CEP72, TPPP (E198K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181572	NM_007030.3(TPPP):c.563G>T (p.Gly188Val)	CEP72, TPPP (G188V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181571	NM_007030.3(TPPP):c.400G>A (p.Glu134Lys)	CEP72, TPPP (E134K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181570	NM_007030.3(TPPP):c.395G>A (p.Ser132Asn)	CEP72, TPPP (S132N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181569	NM_007030.3(TPPP):c.356C>G (p.Ala119Gly)	CEP72, TPPP (A119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148940	GRCh37/hg19 5p15.33(chr5:113577-2191119)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3148886	GRCh37/hg19 5p15.33(chr5:403181-986695)x3	AHRR, BRD9 +8 more	Copy number gain	not provided	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 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 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 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 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 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 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 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 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 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 3143026	NM_018140.4(CEP72):c.1891A>G (p.Met631Val)	CEP72 (M631V)	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 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 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 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062863	GRCh37/hg19 5p15.33(chr5:113576-676873)x3	AHRR, CCDC127 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2655253	NM_007030.3(TPPP):c.312-2192T>C	CEP72, TPPP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2655252	NM_007030.3(TPPP):c.312-2132_312-2085del	CEP72, TPPP	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2655251	NM_007030.3(TPPP):c.312-2084G>C	CEP72, TPPP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2655250	NM_007030.3(TPPP):c.312-1923C>G	CEP72, TPPP	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
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 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 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 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 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 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 2554460	NM_007030.3(TPPP):c.602A>G (p.Tyr201Cys)	CEP72, TPPP (Y201C)	Single nucleotide variant (missense variant)	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 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 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 2539296	NM_007030.3(TPPP):c.649G>A (p.Gly217Arg)	CEP72, TPPP (G217R)	Single nucleotide variant (missense variant)	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 2532149	NM_007030.3(TPPP):c.370G>A (p.Ala124Thr)	CEP72, TPPP (A124T)	Single nucleotide variant (missense variant)	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 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 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 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 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 2427644	NC_000005.9:g.(?_482643)_(1895829_?)del	BRD9, CEP72 +16 more	Deletion	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
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 2398560	NM_018140.4(CEP72):c.188G>A (p.Arg63His)	CEP72, LOC126807283 (R63H)	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 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 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 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 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 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 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 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 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 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 2325365	NM_007030.3(TPPP):c.413G>A (p.Arg138His)	CEP72, TPPP (R138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320196	NM_018140.4(CEP72):c.89T>G (p.Leu30Arg)	CEP72, LOC126807283 (L30R)	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 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 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 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 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 2265936	NM_007030.3(TPPP):c.466A>G (p.Lys156Glu)	CEP72, TPPP (K156E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261891	NM_007030.3(TPPP):c.500C>T (p.Thr167Met)	CEP72, TPPP (T167M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2236822	NM_018140.4(CEP72):c.1643C>T (p.Ala548Val)	CEP72, LOC132089292 (A548V)	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 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 2116070	NM_007030.3(TPPP):c.312-22_312-7dup	CEP72, TPPP	Duplication (intron variant)	not provided	GBenign
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808928	GRCh37/hg19 5p15.33(chr5:150265-668842)x3	AHRR, CCDC127 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic

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