ClinVar for Gene (Select 643677) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264055	NM_001146197.3(CCDC168):c.15533T>C (p.Leu5178Pro)	CCDC168 (L5178P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264054	NM_001146197.3(CCDC168):c.8981T>G (p.Ile2994Ser)	CCDC168 (I2994S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264053	NM_001146197.3(CCDC168):c.11111T>C (p.Ile3704Thr)	CCDC168 (I3704T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264052	NM_001146197.3(CCDC168):c.17372A>T (p.Asp5791Val)	CCDC168 (D5791V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264051	NM_001146197.3(CCDC168):c.14314C>T (p.Pro4772Ser)	CCDC168 (P4772S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264050	NM_001146197.3(CCDC168):c.9374A>G (p.Asp3125Gly)	CCDC168 (D3125G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264049	NM_001146197.3(CCDC168):c.16856G>A (p.Arg5619His)	CCDC168 (R5619H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264048	NM_001146197.3(CCDC168):c.16009A>C (p.Ile5337Leu)	CCDC168 (I5337L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264047	NM_001146197.3(CCDC168):c.11837T>A (p.Phe3946Tyr)	CCDC168 (F3946Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264044	NM_001146197.3(CCDC168):c.20350T>C (p.Cys6784Arg)	CCDC168 (C6784R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264043	NM_001146197.3(CCDC168):c.7072T>G (p.Phe2358Val)	CCDC168 (F2358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264042	NM_001146197.3(CCDC168):c.9890A>G (p.Tyr3297Cys)	CCDC168 (Y3297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264041	NM_001146197.3(CCDC168):c.10576G>T (p.Ala3526Ser)	CCDC168 (A3526S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264040	NM_001146197.3(CCDC168):c.14981A>G (p.His4994Arg)	CCDC168 (H4994R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264039	NM_001146197.3(CCDC168):c.13280A>G (p.Glu4427Gly)	CCDC168 (E4427G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264038	NM_001146197.3(CCDC168):c.16634C>T (p.Ala5545Val)	CCDC168 (A5545V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264037	NM_001146197.3(CCDC168):c.14684T>A (p.Ile4895Lys)	CCDC168 (I4895K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264036	NM_001146197.3(CCDC168):c.7708G>A (p.Val2570Ile)	CCDC168 (V2570I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264035	NM_001146197.3(CCDC168):c.8239A>G (p.Thr2747Ala)	CCDC168 (T2747A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264033	NM_001146197.3(CCDC168):c.13963G>A (p.Ala4655Thr)	CCDC168 (A4655T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264032	NM_001146197.3(CCDC168):c.21085C>A (p.Pro7029Thr)	CCDC168 (P7029T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264031	NM_001146197.3(CCDC168):c.18490G>A (p.Glu6164Lys)	CCDC168 (E6164K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264030	NM_001146197.3(CCDC168):c.18880G>C (p.Asp6294His)	CCDC168 (D6294H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264029	NM_001146197.3(CCDC168):c.14639A>G (p.Lys4880Arg)	CCDC168 (K4880R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264028	NM_001146197.3(CCDC168):c.14792A>G (p.Glu4931Gly)	CCDC168 (E4931G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264027	NM_001146197.3(CCDC168):c.1592A>G (p.His531Arg)	CCDC168 (H531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264026	NM_001146197.3(CCDC168):c.5414T>C (p.Ile1805Thr)	CCDC168 (I1805T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264025	NM_001146197.3(CCDC168):c.4999G>T (p.Gly1667Cys)	CCDC168 (G1667C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264024	NM_001146197.3(CCDC168):c.15016C>A (p.Gln5006Lys)	CCDC168 (Q5006K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264022	NM_001146197.3(CCDC168):c.14810G>C (p.Gly4937Ala)	CCDC168 (G4937A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264021	NM_001146197.3(CCDC168):c.4903C>T (p.Pro1635Ser)	CCDC168 (P1635S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264020	NM_001146197.3(CCDC168):c.10755T>A (p.His3585Gln)	CCDC168 (H3585Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264019	NM_001146197.3(CCDC168):c.10324T>G (p.Leu3442Val)	CCDC168 (L3442V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264018	NM_001146197.3(CCDC168):c.11918T>C (p.Phe3973Ser)	CCDC168 (F3973S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264017	NM_001146197.3(CCDC168):c.765T>G (p.Asn255Lys)	CCDC168 (N255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264016	NM_001146197.3(CCDC168):c.18292A>G (p.Met6098Val)	CCDC168 (M6098V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264015	NM_001146197.3(CCDC168):c.7621C>T (p.Arg2541Cys)	CCDC168 (R2541C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264014	NM_001146197.3(CCDC168):c.18023C>T (p.Pro6008Leu)	CCDC168 (P6008L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264012	NM_001146197.3(CCDC168):c.1417G>C (p.Gly473Arg)	CCDC168 (G473R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264011	NM_001146197.3(CCDC168):c.12496A>G (p.Lys4166Glu)	CCDC168 (K4166E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264010	NM_001146197.3(CCDC168):c.3332A>G (p.Asn1111Ser)	CCDC168 (N1111S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264009	NM_001146197.3(CCDC168):c.6034A>G (p.Met2012Val)	CCDC168 (M2012V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264008	NM_001146197.3(CCDC168):c.3989C>G (p.Ala1330Gly)	CCDC168 (A1330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264007	NM_001146197.3(CCDC168):c.11791A>G (p.Met3931Val)	CCDC168 (M3931V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264006	NM_001146197.3(CCDC168):c.7157T>A (p.Ile2386Asn)	CCDC168 (I2386N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264005	NM_001146197.3(CCDC168):c.10223G>A (p.Cys3408Tyr)	CCDC168 (C3408Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264004	NM_001146197.3(CCDC168):c.2003C>T (p.Thr668Ile)	CCDC168 (T668I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264003	NM_001146197.3(CCDC168):c.13670T>C (p.Val4557Ala)	CCDC168 (V4557A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264001	NM_001146197.3(CCDC168):c.2995G>A (p.Gly999Arg)	CCDC168 (G999R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264000	NM_001146197.3(CCDC168):c.12221A>T (p.Glu4074Val)	CCDC168 (E4074V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263999	NM_001146197.3(CCDC168):c.5357C>G (p.Ser1786Cys)	CCDC168 (S1786C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263998	NM_001146197.3(CCDC168):c.432A>C (p.Glu144Asp)	CCDC168 (E144D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263997	NM_001146197.3(CCDC168):c.1670A>T (p.Tyr557Phe)	CCDC168 (Y557F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263996	NM_001146197.3(CCDC168):c.16045G>A (p.Val5349Ile)	CCDC168 (V5349I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263995	NM_001146197.3(CCDC168):c.3613G>A (p.Val1205Ile)	CCDC168 (V1205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263994	NM_001146197.3(CCDC168):c.8204A>G (p.Glu2735Gly)	CCDC168 (E2735G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263992	NM_001146197.3(CCDC168):c.19183A>T (p.Ile6395Leu)	CCDC168 (I6395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263991	NM_001146197.3(CCDC168):c.9260T>C (p.Phe3087Ser)	CCDC168 (F3087S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3138769	NM_001146197.3(CCDC168):c.9959C>T (p.Thr3320Ile)	CCDC168 (T3320I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138768	NM_001146197.3(CCDC168):c.9827A>G (p.Asp3276Gly)	CCDC168 (D3276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138767	NM_001146197.3(CCDC168):c.9721C>T (p.Pro3241Ser)	CCDC168 (P3241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138766	NM_001146197.3(CCDC168):c.9551A>T (p.Tyr3184Phe)	CCDC168 (Y3184F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138765	NM_001146197.3(CCDC168):c.9467A>G (p.Gln3156Arg)	CCDC168 (Q3156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138764	NM_001146197.3(CCDC168):c.9395C>T (p.Ala3132Val)	CCDC168 (A3132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138762	NM_001146197.3(CCDC168):c.9368G>A (p.Ser3123Asn)	CCDC168 (S3123N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138761	NM_001146197.3(CCDC168):c.9308A>C (p.Lys3103Thr)	CCDC168 (K3103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138760	NM_001146197.3(CCDC168):c.9265T>C (p.Cys3089Arg)	CCDC168 (C3089R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138759	NM_001146197.3(CCDC168):c.8887C>T (p.Leu2963Phe)	CCDC168 (L2963F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138758	NM_001146197.3(CCDC168):c.8555T>C (p.Val2852Ala)	CCDC168 (V2852A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138757	NM_001146197.3(CCDC168):c.8452G>A (p.Glu2818Lys)	CCDC168 (E2818K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138756	NM_001146197.3(CCDC168):c.8330C>T (p.Thr2777Ile)	CCDC168 (T2777I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138755	NM_001146197.3(CCDC168):c.8246C>A (p.Ala2749Glu)	CCDC168 (A2749E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138754	NM_001146197.3(CCDC168):c.8168C>T (p.Ser2723Phe)	CCDC168 (S2723F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138753	NM_001146197.3(CCDC168):c.8038G>T (p.Ala2680Ser)	CCDC168 (A2680S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138752	NM_001146197.3(CCDC168):c.7572T>A (p.Asp2524Glu)	CCDC168 (D2524E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138751	NM_001146197.3(CCDC168):c.7555C>T (p.His2519Tyr)	CCDC168 (H2519Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138750	NM_001146197.3(CCDC168):c.7493C>T (p.Thr2498Ile)	CCDC168 (T2498I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138749	NM_001146197.3(CCDC168):c.7161A>G (p.Ile2387Met)	CCDC168 (I2387M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138748	NM_001146197.3(CCDC168):c.7124A>G (p.Gln2375Arg)	CCDC168 (Q2375R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138747	NM_001146197.3(CCDC168):c.6886T>C (p.Cys2296Arg)	CCDC168 (C2296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138746	NM_001146197.3(CCDC168):c.6881C>T (p.Ala2294Val)	CCDC168 (A2294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138745	NM_001146197.3(CCDC168):c.6566A>G (p.Lys2189Arg)	CCDC168 (K2189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138744	NM_001146197.3(CCDC168):c.6490C>G (p.Leu2164Val)	CCDC168 (L2164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138743	NM_001146197.3(CCDC168):c.6277C>T (p.Arg2093Cys)	CCDC168 (R2093C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138742	NM_001146197.3(CCDC168):c.6143G>C (p.Arg2048Thr)	CCDC168 (R2048T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138740	NM_001146197.3(CCDC168):c.6071C>T (p.Pro2024Leu)	CCDC168 (P2024L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138739	NM_001146197.3(CCDC168):c.5717C>T (p.Ser1906Leu)	CCDC168 (S1906L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138738	NM_001146197.3(CCDC168):c.5510G>C (p.Arg1837Pro)	CCDC168 (R1837P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138737	NM_001146197.3(CCDC168):c.5497C>T (p.His1833Tyr)	CCDC168 (H1833Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138736	NM_001146197.3(CCDC168):c.5105T>C (p.Leu1702Ser)	CCDC168 (L1702S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138735	NM_001146197.3(CCDC168):c.5021C>T (p.Thr1674Ile)	CCDC168 (T1674I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138733	NM_001146197.3(CCDC168):c.4652T>C (p.Val1551Ala)	CCDC168 (V1551A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138732	NM_001146197.3(CCDC168):c.4630G>A (p.Glu1544Lys)	CCDC168 (E1544K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138731	NM_001146197.3(CCDC168):c.4556G>A (p.Gly1519Asp)	CCDC168 (G1519D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138730	NM_001146197.3(CCDC168):c.4347G>C (p.Lys1449Asn)	CCDC168 (K1449N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138729	NM_001146197.3(CCDC168):c.4331C>G (p.Thr1444Ser)	CCDC168 (T1444S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138728	NM_001146197.3(CCDC168):c.4213G>A (p.Gly1405Arg)	CCDC168 (G1405R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138727	NM_001146197.3(CCDC168):c.4161G>T (p.Lys1387Asn)	CCDC168 (K1387N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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