TRAPPC8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 2301749	NM_014939.5(TRAPPC8):c.4249G>C (p.Val1417Leu)	TRAPPC8 (V1417L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462521	NM_014939.5(TRAPPC8):c.4235C>T (p.Ser1412Leu)	TRAPPC8 (S1412L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346283	NM_014939.5(TRAPPC8):c.4225G>T (p.Ala1409Ser)	TRAPPC8 (A1409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383484	NM_014939.5(TRAPPC8):c.4213C>G (p.Pro1405Ala)	TRAPPC8 (P1405A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624192	NM_014939.5(TRAPPC8):c.4144A>C (p.Ser1382Arg)	TRAPPC8 (S1382R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383323	NM_014939.5(TRAPPC8):c.4126T>C (p.Tyr1376His)	TRAPPC8 (Y1376H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555995	NM_014939.5(TRAPPC8):c.4078G>A (p.Glu1360Lys)	TRAPPC8 (E1360K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457973	NM_014939.5(TRAPPC8):c.4019A>G (p.Asn1340Ser)	TRAPPC8 (N1340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234153	NM_014939.5(TRAPPC8):c.3876A>G (p.Pro1292=)	TRAPPC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2555794	NM_014939.5(TRAPPC8):c.3806G>A (p.Gly1269Glu)	TRAPPC8 (G1269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296933	NM_014939.5(TRAPPC8):c.3800C>T (p.Thr1267Ile)	TRAPPC8 (T1267I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373319	NM_014939.5(TRAPPC8):c.3790A>G (p.Ile1264Val)	TRAPPC8 (I1264V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2226016	NM_014939.5(TRAPPC8):c.3671A>G (p.Glu1224Gly)	TRAPPC8 (E1224G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182027	NM_014939.5(TRAPPC8):c.3635C>A (p.Ala1212Asp)	TRAPPC8 (A1212D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594658	NM_014939.5(TRAPPC8):c.3631C>G (p.Gln1211Glu)	TRAPPC8 (Q1211E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336892	NM_014939.5(TRAPPC8):c.3485G>A (p.Arg1162Lys)	TRAPPC8 (R1162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356466	NM_014939.5(TRAPPC8):c.3427A>G (p.Asn1143Asp)	TRAPPC8 (N1143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314251	NM_014939.5(TRAPPC8):c.3418C>A (p.Leu1140Ile)	TRAPPC8 (L1140I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258951	NM_014939.5(TRAPPC8):c.3383G>A (p.Ser1128Asn)	TRAPPC8 (S1128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182026	NM_014939.5(TRAPPC8):c.3337A>G (p.Ser1113Gly)	TRAPPC8 (S1113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609648	NM_014939.5(TRAPPC8):c.3319G>A (p.Val1107Met)	TRAPPC8 (V1107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494057	NM_014939.5(TRAPPC8):c.3292G>A (p.Gly1098Arg)	TRAPPC8 (G1098R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359622	NM_014939.5(TRAPPC8):c.3291A>T (p.Arg1097Ser)	TRAPPC8 (R1097S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270119	NM_014939.5(TRAPPC8):c.3259A>G (p.Arg1087Gly)	TRAPPC8 (R1087G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323322	NM_014939.5(TRAPPC8):c.3116C>T (p.Pro1039Leu)	TRAPPC8 (P1039L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182025	NM_014939.5(TRAPPC8):c.3082G>A (p.Ala1028Thr)	TRAPPC8 (A1028T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328544	NM_014939.5(TRAPPC8):c.3056T>C (p.Leu1019Pro)	TRAPPC8 (L1019P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324100	NM_014939.5(TRAPPC8):c.3001T>G (p.Ser1001Ala)	TRAPPC8 (S1001A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406825	NM_014939.5(TRAPPC8):c.2959G>A (p.Asp987Asn)	TRAPPC8 (D987N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220944	NM_014939.5(TRAPPC8):c.2950G>A (p.Val984Ile)	TRAPPC8 (V984I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182024	NM_014939.5(TRAPPC8):c.2905C>T (p.Pro969Ser)	TRAPPC8 (P969S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182023	NM_014939.5(TRAPPC8):c.2905C>A (p.Pro969Thr)	TRAPPC8 (P969T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328543	NM_014939.5(TRAPPC8):c.2891C>T (p.Thr964Ile)	TRAPPC8 (T964I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182022	NM_014939.5(TRAPPC8):c.2861G>A (p.Arg954His)	TRAPPC8 (R954H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328550	NM_014939.5(TRAPPC8):c.2825A>G (p.Lys942Arg)	TRAPPC8 (K942R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328542	NM_014939.5(TRAPPC8):c.2759A>G (p.His920Arg)	TRAPPC8 (H920R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720775	NM_014939.5(TRAPPC8):c.2745+9C>T	TRAPPC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2329650	NM_014939.5(TRAPPC8):c.2702G>A (p.Arg901Gln)	TRAPPC8 (R901Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338022	NM_014939.5(TRAPPC8):c.2681C>G (p.Ser894Cys)	TRAPPC8 (S894C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182021	NM_014939.5(TRAPPC8):c.2660A>G (p.Asn887Ser)	TRAPPC8 (N887S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182020	NM_014939.5(TRAPPC8):c.2635G>A (p.Glu879Lys)	TRAPPC8 (E879K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336240	NM_014939.5(TRAPPC8):c.2610G>A (p.Met870Ile)	TRAPPC8 (M870I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788810	NM_014939.5(TRAPPC8):c.2590+10A>G	TRAPPC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2361275	NM_014939.5(TRAPPC8):c.2570C>T (p.Ala857Val)	TRAPPC8 (A857V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328548	NM_014939.5(TRAPPC8):c.2344C>T (p.Pro782Ser)	TRAPPC8 (P782S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025827	NM_014939.5(TRAPPC8):c.2292T>C (p.Pro764=)	TRAPPC8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2402881	NM_014939.5(TRAPPC8):c.2213A>C (p.Asn738Thr)	TRAPPC8 (N738T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321417	NM_014939.5(TRAPPC8):c.2201A>G (p.Gln734Arg)	TRAPPC8 (Q734R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215959	NM_014939.5(TRAPPC8):c.2161G>A (p.Val721Ile)	TRAPPC8 (V721I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223184	NM_014939.5(TRAPPC8):c.2057C>T (p.Ala686Val)	TRAPPC8 (A686V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182019	NM_014939.5(TRAPPC8):c.2014A>C (p.Ser672Arg)	TRAPPC8 (S672R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406438	NM_014939.5(TRAPPC8):c.2014A>G (p.Ser672Gly)	TRAPPC8 (S672G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182018	NM_014939.5(TRAPPC8):c.1835A>G (p.Tyr612Cys)	TRAPPC8 (Y612C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182017	NM_014939.5(TRAPPC8):c.1832C>G (p.Ser611Cys)	TRAPPC8 (S611C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512447	NM_014939.5(TRAPPC8):c.1820T>C (p.Ile607Thr)	TRAPPC8 (I607T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182016	NM_014939.5(TRAPPC8):c.1655T>C (p.Met552Thr)	TRAPPC8 (M552T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182014	NM_014939.5(TRAPPC8):c.1498G>A (p.Val500Met)	TRAPPC8 (V500M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182013	NM_014939.5(TRAPPC8):c.1495A>G (p.Met499Val)	TRAPPC8 (M499V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234127	NM_014939.5(TRAPPC8):c.1491-7dup	TRAPPC8	Duplication (intron variant)	not provided	GLikely benign
Select item 2283511	NM_014939.5(TRAPPC8):c.1373A>T (p.Tyr458Phe)	TRAPPC8 (Y458F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456487	NM_014939.5(TRAPPC8):c.1366A>G (p.Met456Val)	TRAPPC8 (M456V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378978	NM_014939.5(TRAPPC8):c.1244C>T (p.Pro415Leu)	TRAPPC8 (P415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397293	NM_014939.5(TRAPPC8):c.1090A>G (p.Ile364Val)	TRAPPC8 (I364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311007	NM_014939.5(TRAPPC8):c.1067C>T (p.Thr356Ile)	TRAPPC8 (T356I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182011	NM_014939.5(TRAPPC8):c.1046G>A (p.Arg349Gln)	TRAPPC8 (R349Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328541	NM_014939.5(TRAPPC8):c.1013C>T (p.Ala338Val)	TRAPPC8 (A338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182035	NM_014939.5(TRAPPC8):c.994A>C (p.Thr332Pro)	TRAPPC8 (T332P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381510	NM_014939.5(TRAPPC8):c.989G>T (p.Gly330Val)	TRAPPC8 (G330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182034	NM_014939.5(TRAPPC8):c.947A>T (p.Asp316Val)	TRAPPC8 (D316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328545	NM_014939.5(TRAPPC8):c.932G>A (p.Ser311Asn)	TRAPPC8 (S311N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182033	NM_014939.5(TRAPPC8):c.931A>G (p.Ser311Gly)	TRAPPC8 (S311G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559283	NM_014939.5(TRAPPC8):c.866A>T (p.Asp289Val)	TRAPPC8 (D289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589811	NM_014939.5(TRAPPC8):c.811A>G (p.Lys271Glu)	TRAPPC8 (K271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182032	NM_014939.5(TRAPPC8):c.790C>G (p.Pro264Ala)	TRAPPC8 (P264A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182031	NM_014939.5(TRAPPC8):c.768C>G (p.Asn256Lys)	TRAPPC8 (N256K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615744	NM_014939.5(TRAPPC8):c.694A>T (p.Thr232Ser)	TRAPPC8 (T232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182030	NM_014939.5(TRAPPC8):c.692G>A (p.Arg231Gln)	TRAPPC8 (R231Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275688	NM_014939.5(TRAPPC8):c.675A>T (p.Leu225Phe)	TRAPPC8 (L225F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648633	NM_014939.5(TRAPPC8):c.665G>T (p.Gly222Val)	TRAPPC8 (G222V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2333932	NM_014939.5(TRAPPC8):c.520C>G (p.Gln174Glu)	TRAPPC8 (Q174E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182028	NM_014939.5(TRAPPC8):c.445A>G (p.Met149Val)	TRAPPC8 (M149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328549	NM_014939.5(TRAPPC8):c.398C>T (p.Ser133Leu)	TRAPPC8 (S133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493557	NM_014939.5(TRAPPC8):c.348C>G (p.Ile116Met)	TRAPPC8 (I116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224753	NM_014939.5(TRAPPC8):c.313A>C (p.Asn105His)	TRAPPC8 (N105H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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