CCDC85C[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ZFYVE21, ZNF839 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	SNORD114-11, SNORD114-12 +754 more	Copy number loss	See cases	GPathogenic
Select item 57812	GRCh38/hg38 14q32.2(chr14:96920270-100178956)x1	BCL11B, CCDC85C +81 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056455, LOC130056456 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	ADSS1, AHNAK2 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	ADSS1, AHNAK2 +653 more	Copy number gain	See cases	GPathogenic
Select item 2429046	NM_001099402.2(CCNK):c.451A>G (p.Ile151Val)	CCNK, CCDC85C (I151V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3039124	NM_001099402.2(CCNK):c.495A>T (p.Leu165=)	CCDC85C, CCNK	Single nucleotide variant (3 prime UTR variant +1 more)	CCNK-related condition	GBenign
Select item 720140	NM_001099402.2(CCNK):c.517+8_517+10del	CCDC85C, CCNK	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2535439	NM_001099402.2(CCNK):c.530A>G (p.Lys177Arg)	CCDC85C, CCNK (K177R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 996902	NM_001099402.2(CCNK):c.736G>A (p.Val246Ile)	CCDC85C, CCNK (V246I)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual developmental disorder with hypertelorism and distinctive facies	GUncertain significance
Select item 3035487	NM_001099402.2(CCNK):c.777A>G (p.Ser259=)	CCDC85C, CCNK	Single nucleotide variant (3 prime UTR variant +1 more)	CCNK-related condition	GLikely benign
Select item 2213927	NM_001099402.2(CCNK):c.857C>T (p.Pro286Leu)	CCDC85C, CCNK (P286L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2663788	NM_001099402.2(CCNK):c.878C>T (p.Pro293Leu)	CCDC85C, CCNK (P293L)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual developmental disorder with hypertelorism and distinctive facies	GUncertain significance
Select item 2396764	NM_001099402.2(CCNK):c.952C>G (p.Gln318Glu)	CCDC85C, CCNK (Q318E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3139967	NM_001099402.2(CCNK):c.956A>G (p.Gln319Arg)	CCDC85C, CCNK (Q319R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2263423	NM_001099402.2(CCNK):c.996G>C (p.Gln332His)	CCDC85C, CCNK (Q332H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2644508	NM_001099402.2(CCNK):c.1012-7G>C	CCDC85C, CCNK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3139965	NM_001099402.2(CCNK):c.1072A>G (p.Ile358Val)	CCDC85C, CCNK (I358V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222918	NM_001099402.2(CCNK):c.1121G>A (p.Arg374Gln)	CCDC85C, CCNK (R374Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3049684	NM_001099402.2(CCNK):c.1242G>A (p.Pro414=)	CCDC85C, CCNK	Single nucleotide variant (3 prime UTR variant +1 more)	CCNK-related condition	GLikely benign
Select item 2600992	NM_001099402.2(CCNK):c.1256G>A (p.Arg419Gln)	CCDC85C, CCNK (R419Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2461257	NM_001099402.2(CCNK):c.1265C>T (p.Pro422Leu)	CCDC85C, CCNK (P422L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3046919	NM_001099402.2(CCNK):c.1359C>T (p.Thr453=)	CCDC85C, CCNK	Single nucleotide variant (3 prime UTR variant +1 more)	CCNK-related condition	GLikely benign
Select item 1679703	NM_001099402.2(CCNK):c.1363G>A (p.Gly455Arg)	CCDC85C, CCNK (G455R)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual developmental disorder with hypertelorism and distinctive facies	GUncertain significance
Select item 3033144	NM_001099402.2(CCNK):c.1426del (p.His476fs)	CCDC85C, CCNK (H476fs)	Deletion (3 prime UTR variant +1 more)	CCNK-related condition	GUncertain significance
Select item 402506	NM_001099402.2(CCNK):c.1446G>C (p.Pro482=)	CCDC85C, CCNK	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2644509	NM_001099402.2(CCNK):c.1452G>A (p.Pro484=)	CCDC85C, CCNK	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 402507	NM_001099402.2(CCNK):c.1524A>C (p.Pro508=)	CCDC85C, CCNK	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 402508	NM_001099402.2(CCNK):c.1530A>C (p.Pro510=)	CCDC85C, CCNK	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3053554	NM_001099402.2(CCNK):c.1593C>T (p.Pro531=)	CCDC85C, CCNK	Single nucleotide variant (3 prime UTR variant +1 more)	CCNK-related condition	GBenign
Select item 2215076	NM_001099402.2(CCNK):c.1654C>A (p.Pro552Thr)	CCDC85C, CCNK (P552T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2324800	NM_001099402.2(CCNK):c.1670C>A (p.Pro557His)	CCDC85C, CCNK (P557H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2527548	NM_001099402.2(CCNK):c.1688C>T (p.Pro563Leu)	CCDC85C, CCNK (P563L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2248354	NM_001099402.2(CCNK):c.1703C>T (p.Pro568Leu)	CCDC85C, CCNK (P568L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3139482	NM_001144995.2(CCDC85C):c.1252C>T (p.Pro418Ser)	CCDC85C (P418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545391	NM_001144995.2(CCDC85C):c.1232C>T (p.Ser411Phe)	CCDC85C (S411F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380188	NM_001144995.2(CCDC85C):c.1219C>T (p.Arg407Trp)	CCDC85C (R407W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400715	NM_001144995.2(CCDC85C):c.1125G>T (p.Glu375Asp)	CCDC85C (E375D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139481	NM_001144995.2(CCDC85C):c.1115G>T (p.Ser372Ile)	CCDC85C (S372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644510	NM_001144995.2(CCDC85C):c.1014C>A (p.Pro338=)	CCDC85C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486024	NM_001144995.2(CCDC85C):c.995C>G (p.Pro332Arg)	CCDC85C (P332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517574	NM_001144995.2(CCDC85C):c.991G>A (p.Ala331Thr)	CCDC85C (A331T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307102	NM_001144995.2(CCDC85C):c.989C>T (p.Pro330Leu)	CCDC85C (P330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139492	NM_001144995.2(CCDC85C):c.980C>T (p.Pro327Leu)	CCDC85C (P327L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139490	NM_001144995.2(CCDC85C):c.893C>T (p.Thr298Met)	CCDC85C (T298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644511	NM_001144995.2(CCDC85C):c.891C>T (p.Arg297=)	CCDC85C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2484172	NM_001144995.2(CCDC85C):c.862G>T (p.Ala288Ser)	CCDC85C (A288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608259	NM_001144995.2(CCDC85C):c.766C>T (p.His256Tyr)	CCDC85C (H256Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139489	NM_001144995.2(CCDC85C):c.730C>T (p.Arg244Cys)	CCDC85C (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240425	NM_001144995.2(CCDC85C):c.716A>G (p.Lys239Arg)	CCDC85C (K239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493563	NM_001144995.2(CCDC85C):c.688C>G (p.Pro230Ala)	CCDC85C (P230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139488	NM_001144995.2(CCDC85C):c.674C>T (p.Pro225Leu)	CCDC85C (P225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374203	NM_001144995.2(CCDC85C):c.671C>T (p.Pro224Leu)	CCDC85C (P224L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274188	NM_001144995.2(CCDC85C):c.666C>A (p.His222Gln)	CCDC85C (H222Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139487	NM_001144995.2(CCDC85C):c.566C>A (p.Pro189Gln)	CCDC85C (P189Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139486	NM_001144995.2(CCDC85C):c.511G>A (p.Gly171Arg)	CCDC85C (G171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546407	NM_001144995.2(CCDC85C):c.467C>T (p.Ala156Val)	CCDC85C (A156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139485	NM_001144995.2(CCDC85C):c.458A>G (p.Glu153Gly)	CCDC85C (E153G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376328	NM_001144995.2(CCDC85C):c.436G>A (p.Glu146Lys)	CCDC85C (E146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261658	NM_001144995.2(CCDC85C):c.320G>T (p.Arg107Leu)	CCDC85C (R107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139483	NM_001144995.2(CCDC85C):c.245A>G (p.Gln82Arg)	CCDC85C (Q82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139491	NM_001144995.2(CCDC85C):c.95C>T (p.Ala32Val)	CCDC85C, LOC130056421 (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377053	NM_001144995.2(CCDC85C):c.41A>T (p.Glu14Val)	CCDC85C (E14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139484	NM_001144995.2(CCDC85C):c.31G>T (p.Ala11Ser)	CCDC85C (A11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220076	NM_001144995.2(CCDC85C):c.19A>C (p.Thr7Pro)	CCDC85C (T7P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 more	Copy number loss	not provided	GPathogenic
Select item 980622	GRCh37/hg19 14q32.2(chr14:99538014-100082239)x1	CCDC85C, CCNK +2 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	PPP2R5C, RCOR1 +112 more	Copy number loss	See cases	GPathogenic
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 625815	GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)	BEGAIN, CCDC85C +35 more	Copy number gain	not provided	GLikely pathogenic
Select item 564133	GRCh37/hg19 14q32.2(chr14:98924025-101159952)x3	WDR25, LINC02914 +14 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 87