1596[HGNC] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +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	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +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	IGHD3-22, IGHD3-3 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LINC00677, LINC01550 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056627, LOC130056628 +653 more	Copy number gain	See cases	GPathogenic
Select item 1708081	NM_001099402.2(CCNK):c.1A>G (p.Met1Val)	CCNK (M1V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with hypertelorism and distinctive facies	GUncertain significance
Select item 2644506	NM_001099402.2(CCNK):c.33A>G (p.Ser11=)	CCNK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268000	NM_001099402.2(CCNK):c.34G>A (p.Val12Ile)	CCNK (V12I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628479	NM_001099402.2(CCNK):c.143G>A (p.Arg48Gln)	CCNK (R48Q)	Single nucleotide variant (missense variant)	CCNK-related disorder	GUncertain significance
Select item 2644507	NM_001099402.2(CCNK):c.151C>T (p.Arg51Ter)	CCNK (R51*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1370167	NM_001099402.2(CCNK):c.160G>A (p.Ala54Thr)	CCNK (A54T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192628	NM_001099402.2(CCNK):c.280-5T>C	CCNK	Single nucleotide variant (intron variant)	Intellectual developmental disorder with hypertelorism and distinctive facies +2 more	GBenign
Select item 585310	NM_001099402.2(CCNK):c.331A>G (p.Lys111Glu)	CCNK (K111E)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with hypertelorism and distinctive facies	GPathogenic
Select item 3139966	NM_001099402.2(CCNK):c.361C>T (p.Arg121Cys)	CCNK (R121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 disorder	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 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	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 65