ClinVar for Gene (Select 160777) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063271	GRCh37/hg19 12q24.21-24.23(chr12:116718608-120115397)x1	CCDC60, FBXO21 +18 more	Copy number loss	not specified	GLikely pathogenic
Select item 3025112	NM_178499.5(CCDC60):c.333del (p.Leu112fs)	CCDC60, LOC105370027 (L112fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2623640	NM_178499.5(CCDC60):c.129C>G (p.Asp43Glu)	CCDC60, LOC105370027 (D43E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622121	NM_178499.5(CCDC60):c.1379C>T (p.Ser460Phe)	CCDC60, LOC105370027 (S460F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596534	NM_178499.5(CCDC60):c.736G>C (p.Gly246Arg)	CCDC60, LOC105370027 (G246R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591010	NM_178499.5(CCDC60):c.1214T>C (p.Met405Thr)	CCDC60, LOC105370027 (M405T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553655	NM_178499.5(CCDC60):c.1553T>G (p.Phe518Cys)	CCDC60, LOC105370027 (F518C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552074	NM_178499.5(CCDC60):c.675G>A (p.Met225Ile)	CCDC60, LOC105370027 (M225I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541998	NM_178499.5(CCDC60):c.1393G>A (p.Asp465Asn)	CCDC60, LOC105370027 (D465N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521971	NM_178499.5(CCDC60):c.922C>T (p.Arg308Trp)	CCDC60, LOC105370027 (R308W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511429	NM_178499.5(CCDC60):c.1640G>T (p.Ser547Ile)	CCDC60, LOC105370027 (S547I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487501	NM_178499.5(CCDC60):c.519C>G (p.His173Gln)	CCDC60, LOC105370027 (H173Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464646	NM_178499.5(CCDC60):c.1396C>A (p.Leu466Ile)	CCDC60, LOC105370027 (L466I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463218	NM_178499.5(CCDC60):c.1342G>A (p.Glu448Lys)	CCDC60, LOC105370027 (E448K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460071	NM_178499.5(CCDC60):c.1262G>A (p.Arg421His)	CCDC60, LOC105370027 (R421H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2458647	NM_178499.5(CCDC60):c.397T>C (p.Phe133Leu)	LOC105370027, CCDC60 (F133L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396227	NM_178499.5(CCDC60):c.287A>C (p.Lys96Thr)	CCDC60, LOC105370027 (K96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395030	NM_178499.5(CCDC60):c.1108A>G (p.Thr370Ala)	CCDC60, LOC105370027 (T370A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389233	NM_178499.5(CCDC60):c.170G>A (p.Arg57His)	CCDC60, LOC105370027 (R57H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387899	NM_178499.5(CCDC60):c.707G>T (p.Gly236Val)	CCDC60, LOC105370027 (G236V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385236	NM_178499.5(CCDC60):c.148A>G (p.Lys50Glu)	CCDC60, LOC105370027 (K50E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382093	NM_178499.5(CCDC60):c.986A>G (p.Lys329Arg)	CCDC60, LOC105370027 (K329R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2379855	NM_178499.5(CCDC60):c.1549G>C (p.Glu517Gln)	CCDC60, LOC105370027 (E517Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371558	NM_178499.5(CCDC60):c.133G>C (p.Glu45Gln)	CCDC60, LOC105370027 (E45Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369825	NM_178499.5(CCDC60):c.1642G>A (p.Ala548Thr)	CCDC60, LOC105370027 (A548T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360433	NM_178499.5(CCDC60):c.463C>T (p.Arg155Cys)	CCDC60, LOC105370027 (R155C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357821	NM_178499.5(CCDC60):c.1409G>A (p.Arg470His)	CCDC60, LOC105370027 (R470H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329836	NM_178499.5(CCDC60):c.1594A>G (p.Ile532Val)	CCDC60, LOC105370027 (I532V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314200	NM_178499.5(CCDC60):c.734G>T (p.Ser245Ile)	CCDC60, LOC105370027 (S245I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298735	NM_178499.5(CCDC60):c.1069A>G (p.Ser357Gly)	CCDC60, LOC105370027 (S357G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272721	NM_178499.5(CCDC60):c.622T>G (p.Trp208Gly)	CCDC60, LOC105370027 (W208G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227262	NM_178499.5(CCDC60):c.911G>A (p.Arg304Gln)	CCDC60, LOC105370027 (R304Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219864	NM_178499.5(CCDC60):c.451G>A (p.Glu151Lys)	CCDC60, LOC105370027 (E151K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1527742	GRCh37/hg19 12q24.23(chr12:119698216-119837704)	CCDC60	Copy number loss	not specified	GUncertain significance
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394926	GRCh37/hg19 12q24.23(chr12:119827883-119950689)x3	CCDC60	Copy number gain	See cases	Gconflicting data from submitters
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150421	GRCh38/hg38 12q24.23(chr12:119364009-119606602)x3	CCDC60, LOC105370027 +6 more	Copy number gain	See cases	GLikely benign
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	ACADS, ANAPC5 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	ZNF664, ZNF664-RFLNA +786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46