LOC105370027[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 150421	GRCh38/hg38 12q24.23(chr12:119364009-119606602)x3	CCDC60, LOC105370027 +6 more	Copy number gain	See cases	GLikely benign
Select item 2623640	NM_178499.5(CCDC60):c.129C>G (p.Asp43Glu)	CCDC60, LOC105370027 (D43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371558	NM_178499.5(CCDC60):c.133G>C (p.Glu45Gln)	CCDC60, LOC105370027 (E45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385236	NM_178499.5(CCDC60):c.148A>G (p.Lys50Glu)	CCDC60, LOC105370027 (K50E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389233	NM_178499.5(CCDC60):c.170G>A (p.Arg57His)	CCDC60, LOC105370027 (R57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139235	NM_178499.5(CCDC60):c.178A>G (p.Ile60Val)	CCDC60, LOC105370027 (I60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396227	NM_178499.5(CCDC60):c.287A>C (p.Lys96Thr)	CCDC60, LOC105370027 (K96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025112	NM_178499.5(CCDC60):c.333del (p.Leu112fs)	CCDC60, LOC105370027 (L112fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 3264238	NM_178499.5(CCDC60):c.357G>C (p.Glu119Asp)	CCDC60, LOC105370027 (E119D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458647	NM_178499.5(CCDC60):c.397T>C (p.Phe133Leu)	CCDC60, LOC105370027 (F133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139236	NM_178499.5(CCDC60):c.408C>G (p.Ile136Met)	CCDC60, LOC105370027 (I136M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219864	NM_178499.5(CCDC60):c.451G>A (p.Glu151Lys)	CCDC60, LOC105370027 (E151K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360433	NM_178499.5(CCDC60):c.463C>T (p.Arg155Cys)	CCDC60, LOC105370027 (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139237	NM_178499.5(CCDC60):c.514A>G (p.Thr172Ala)	CCDC60, LOC105370027 (T172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487501	NM_178499.5(CCDC60):c.519C>G (p.His173Gln)	CCDC60, LOC105370027 (H173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272721	NM_178499.5(CCDC60):c.622T>G (p.Trp208Gly)	CCDC60, LOC105370027 (W208G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552074	NM_178499.5(CCDC60):c.675G>A (p.Met225Ile)	CCDC60, LOC105370027 (M225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139238	NM_178499.5(CCDC60):c.676C>G (p.Arg226Gly)	CCDC60, LOC105370027 (R226G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387899	NM_178499.5(CCDC60):c.707G>T (p.Gly236Val)	CCDC60, LOC105370027 (G236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314200	NM_178499.5(CCDC60):c.734G>T (p.Ser245Ile)	CCDC60, LOC105370027 (S245I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2596534	NM_178499.5(CCDC60):c.736G>C (p.Gly246Arg)	CCDC60, LOC105370027 (G246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227262	NM_178499.5(CCDC60):c.911G>A (p.Arg304Gln)	CCDC60, LOC105370027 (R304Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521971	NM_178499.5(CCDC60):c.922C>T (p.Arg308Trp)	CCDC60, LOC105370027 (R308W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382093	NM_178499.5(CCDC60):c.986A>G (p.Lys329Arg)	CCDC60, LOC105370027 (K329R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2298735	NM_178499.5(CCDC60):c.1069A>G (p.Ser357Gly)	CCDC60, LOC105370027 (S357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264239	NM_178499.5(CCDC60):c.1105C>T (p.Arg369Cys)	CCDC60, LOC105370027 (R369C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395030	NM_178499.5(CCDC60):c.1108A>G (p.Thr370Ala)	CCDC60, LOC105370027 (T370A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139232	NM_178499.5(CCDC60):c.1157T>C (p.Met386Thr)	CCDC60, LOC105370027 (M386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591010	NM_178499.5(CCDC60):c.1214T>C (p.Met405Thr)	CCDC60, LOC105370027 (M405T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460071	NM_178499.5(CCDC60):c.1262G>A (p.Arg421His)	CCDC60, LOC105370027 (R421H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2463218	NM_178499.5(CCDC60):c.1342G>A (p.Glu448Lys)	CCDC60, LOC105370027 (E448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622121	NM_178499.5(CCDC60):c.1379C>T (p.Ser460Phe)	CCDC60, LOC105370027 (S460F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541998	NM_178499.5(CCDC60):c.1393G>A (p.Asp465Asn)	CCDC60, LOC105370027 (D465N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464646	NM_178499.5(CCDC60):c.1396C>A (p.Leu466Ile)	CCDC60, LOC105370027 (L466I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357821	NM_178499.5(CCDC60):c.1409G>A (p.Arg470His)	CCDC60, LOC105370027 (R470H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264240	NM_178499.5(CCDC60):c.1456C>A (p.Leu486Met)	CCDC60, LOC105370027 (L486M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379855	NM_178499.5(CCDC60):c.1549G>C (p.Glu517Gln)	CCDC60, LOC105370027 (E517Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553655	NM_178499.5(CCDC60):c.1553T>G (p.Phe518Cys)	CCDC60, LOC105370027 (F518C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329836	NM_178499.5(CCDC60):c.1594A>G (p.Ile532Val)	CCDC60, LOC105370027 (I532V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139233	NM_178499.5(CCDC60):c.1613G>A (p.Arg538Gln)	CCDC60, LOC105370027 (R538Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139234	NM_178499.5(CCDC60):c.1628T>C (p.Ile543Thr)	CCDC60, LOC105370027 (I543T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511429	NM_178499.5(CCDC60):c.1640G>T (p.Ser547Ile)	CCDC60, LOC105370027 (S547I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369825	NM_178499.5(CCDC60):c.1642G>A (p.Ala548Thr)	CCDC60, LOC105370027 (A548T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326299	NM_001136534.3(TMEM233):c.10T>C (p.Tyr4His)	LOC105370027, TMEM233 (Y4H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264340	NM_001136534.3(TMEM233):c.85G>A (p.Glu29Lys)	LOC105370027, TMEM233 (E29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541416	NM_001136534.3(TMEM233):c.98T>C (p.Met33Thr)	LOC105370027, TMEM233 (M33T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386629	NM_001136534.3(TMEM233):c.127G>A (p.Val43Ile)	LOC105370027, TMEM233 (V43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179223	NM_001136534.3(TMEM233):c.146C>T (p.Ala49Val)	LOC105370027, TMEM233 (A49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179224	NM_001136534.3(TMEM233):c.248A>T (p.Lys83Met)	LOC105370027, TMEM233 (K83M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179225	NM_001136534.3(TMEM233):c.253G>T (p.Val85Leu)	LOC105370027, TMEM233 (V85L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322374	NM_001136534.3(TMEM233):c.324T>A (p.Asn108Lys)	LOC105370027, TMEM233 (N108K)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 56