Related gene-specific medical variations for Gene (Select 8812) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 720140	NM_001099402.2(CCNK):c.517+8_517+10del	CCDC85C, CCNK	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 29