ClinVar for Gene (Select 51112) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371489	NM_016030.6(TRAPPC12):c.634G>T (p.Asp212Tyr)	TRAPPC12 (D212Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371487	NM_016030.6(TRAPPC12):c.2098A>G (p.Met700Val)	TRAPPC12, TRAPPC12-AS1 (M700V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3362200	NM_016030.6(TRAPPC12):c.681T>A (p.Phe227Leu)	TRAPPC12 (F227L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3361852	NM_016030.6(TRAPPC12):c.227_228del (p.Pro76fs)	TRAPPC12 (P76fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3361851	NM_016030.6(TRAPPC12):c.997G>A (p.Val333Met)	TRAPPC12 (V333M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351747	NM_016030.6(TRAPPC12):c.*5C>T	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	TRAPPC12-related disorder	GLikely benign
Select item 3328531	NM_016030.6(TRAPPC12):c.917G>A (p.Arg306Lys)	TRAPPC12 (R306K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328530	NM_016030.6(TRAPPC12):c.1441C>A (p.Arg481Ser)	TRAPPC12 (R481S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328527	NM_016030.6(TRAPPC12):c.967G>A (p.Val323Met)	TRAPPC12 (V323M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328526	NM_016030.6(TRAPPC12):c.1354G>A (p.Gly452Arg)	TRAPPC12 (G452R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328525	NM_016030.6(TRAPPC12):c.1018A>G (p.Met340Val)	TRAPPC12 (M340V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328524	NM_016030.6(TRAPPC12):c.2071G>A (p.Glu691Lys)	TRAPPC12, TRAPPC12-AS1 (E691K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3328523	NM_016030.6(TRAPPC12):c.223T>G (p.Ser75Ala)	TRAPPC12 (S75A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3328522	NM_016030.6(TRAPPC12):c.958C>G (p.Leu320Val)	TRAPPC12 (L320V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255601	NM_016030.6(TRAPPC12):c.722del (p.Gly241fs)	TRAPPC12 (G241fs)	Deletion (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 3254924	NM_016030.6(TRAPPC12):c.94del (p.Gln32fs)	TRAPPC12 (Q32fs)	Deletion (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GPathogenic
Select item 3254923	NM_016030.6(TRAPPC12):c.1822A>T (p.Lys608Ter)	TRAPPC12 (K608*)	Single nucleotide variant (nonsense)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GPathogenic
Select item 3252412	NM_016030.6(TRAPPC12):c.1678-2A>C	TRAPPC12	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3247490	NC_000002.11:g.(?_3481446)_(3691708_?)dup	ADI1, COLEC11 +3 more	Duplication	not provided	GUncertain significance
Select item 3181979	NM_016030.6(TRAPPC12):c.955G>A (p.Val319Ile)	TRAPPC12 (V319I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181978	NM_016030.6(TRAPPC12):c.889G>T (p.Ala297Ser)	TRAPPC12 (A297S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181977	NM_016030.6(TRAPPC12):c.74A>T (p.Glu25Val)	TRAPPC12 (E25V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181976	NM_016030.6(TRAPPC12):c.739A>C (p.Ser247Arg)	TRAPPC12 (S247R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181975	NM_016030.6(TRAPPC12):c.680T>C (p.Phe227Ser)	TRAPPC12 (F227S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181974	NM_016030.6(TRAPPC12):c.662C>T (p.Ser221Leu)	TRAPPC12 (S221L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181973	NM_016030.6(TRAPPC12):c.653C>T (p.Ser218Phe)	TRAPPC12 (S218F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181972	NM_016030.6(TRAPPC12):c.442G>C (p.Glu148Gln)	TRAPPC12 (E148Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181970	NM_016030.6(TRAPPC12):c.412G>A (p.Glu138Lys)	TRAPPC12 (E138K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181969	NM_016030.6(TRAPPC12):c.356C>T (p.Ala119Val)	TRAPPC12 (A119V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181967	NM_016030.6(TRAPPC12):c.1817T>C (p.Val606Ala)	TRAPPC12 (V606A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181966	NM_016030.6(TRAPPC12):c.1700C>T (p.Ala567Val)	TRAPPC12 (A567V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181965	NM_016030.6(TRAPPC12):c.1589A>G (p.Gln530Arg)	TRAPPC12 (Q530R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181964	NM_016030.6(TRAPPC12):c.1586C>T (p.Thr529Ile)	TRAPPC12 (T529I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3069113	NM_016030.6(TRAPPC12):c.979C>T (p.Gln327Ter)	TRAPPC12 (Q327*)	Single nucleotide variant (nonsense)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GPathogenic
Select item 3068100	NM_016030.6(TRAPPC12):c.664G>T (p.Asp222Tyr)	TRAPPC12 (D222Y)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 3067673	NM_016030.6(TRAPPC12):c.1458G>A (p.Glu486=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065808	NM_016030.6(TRAPPC12):c.249_268del (p.Asp84fs)	TRAPPC12 (D84fs)	Deletion (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 3053837	NM_016030.6(TRAPPC12):c.69T>A (p.Pro23=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 3053317	NM_016030.6(TRAPPC12):c.1407T>C (p.Pro469=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 3052743	NM_016030.6(TRAPPC12):c.108C>T (p.Ile36=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 3051128	NM_016030.6(TRAPPC12):c.1197G>A (p.Leu399=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 3034939	NM_016030.6(TRAPPC12):c.*3G>C	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	TRAPPC12-related disorder	GLikely benign
Select item 3034223	NM_016030.6(TRAPPC12):c.990C>T (p.Ala330=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 3033106	NM_016030.6(TRAPPC12):c.426C>T (p.Ser142=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 3031112	NM_016030.6(TRAPPC12):c.1797T>C (p.Ala599=)	TRAPPC12	Single nucleotide variant (synonymous variant)	TRAPPC12-related disorder	GLikely benign
Select item 3026437	NM_016030.6(TRAPPC12):c.2160C>T (p.Ala720=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3025592	NM_016030.6(TRAPPC12):c.1758C>T (p.Ile586=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022810	NM_016030.6(TRAPPC12):c.1403A>G (p.Tyr468Cys)	TRAPPC12 (Y468C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016712	NM_016030.6(TRAPPC12):c.2172G>C (p.Gly724=)	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3013852	NM_016030.6(TRAPPC12):c.249C>T (p.Gly83=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985493	NM_016030.6(TRAPPC12):c.385G>A (p.Gly129Arg)	TRAPPC12 (G129R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977952	NM_016030.6(TRAPPC12):c.1393C>A (p.Pro465Thr)	TRAPPC12 (P465T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967966	NM_016030.6(TRAPPC12):c.1877+16C>T	TRAPPC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966000	NM_016030.6(TRAPPC12):c.1165-12C>T	TRAPPC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964999	NM_016030.6(TRAPPC12):c.1878-16G>A	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2905589	NM_016030.6(TRAPPC12):c.1966-3T>C	TRAPPC12, TRAPPC12-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2903266	NM_016030.6(TRAPPC12):c.336C>A (p.Gly112=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902792	NM_016030.6(TRAPPC12):c.38C>T (p.Pro13Leu)	TRAPPC12 (P13L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901969	NM_016030.6(TRAPPC12):c.73_74delinsTT (p.Glu25Leu)	TRAPPC12 (E25L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2892735	NM_016030.6(TRAPPC12):c.156G>A (p.Ser52=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888628	NM_016030.6(TRAPPC12):c.1047+10G>A	TRAPPC12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883326	NM_016030.6(TRAPPC12):c.796C>A (p.Arg266=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872757	NM_016030.6(TRAPPC12):c.1074T>C (p.Leu358=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761934	NM_016030.6(TRAPPC12):c.789G>A (p.Val263=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752414	NM_016030.6(TRAPPC12):c.1692C>A (p.Ala564=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747984	NM_016030.6(TRAPPC12):c.1383C>T (p.Tyr461=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2736222	NM_016030.6(TRAPPC12):c.1234G>A (p.Gly412Ser)	TRAPPC12 (G412S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2716909	NM_016030.6(TRAPPC12):c.1152G>A (p.Leu384=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715684	NM_016030.6(TRAPPC12):c.804C>T (p.Pro268=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692483	NM_016030.6(TRAPPC12):c.1164+1G>T	TRAPPC12	Single nucleotide variant (splice donor variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2650634	NM_016030.6(TRAPPC12):c.879C>G (p.Pro293=)	TRAPPC12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650633	NM_016030.6(TRAPPC12):c.562G>A (p.Ala188Thr)	TRAPPC12 (A188T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636361	NM_016030.6(TRAPPC12):c.850C>T (p.Gln284Ter)	TRAPPC12 (Q284*)	Single nucleotide variant (nonsense)	TRAPPC12-related disorder	GLikely pathogenic
Select item 2611470	NM_016030.6(TRAPPC12):c.361G>C (p.Glu121Gln)	TRAPPC12 (E121Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609475	NM_016030.6(TRAPPC12):c.1787T>C (p.Ile596Thr)	TRAPPC12 (I596T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601199	NM_016030.6(TRAPPC12):c.784C>T (p.Pro262Ser)	TRAPPC12 (P262S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2585068	NM_016030.6(TRAPPC12):c.195_196del (p.Met66fs)	TRAPPC12 (M66fs)	Microsatellite (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2585067	NM_016030.6(TRAPPC12):c.1678-2A>G	TRAPPC12	Single nucleotide variant (splice acceptor variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2584443	NM_016030.6(TRAPPC12):c.56del (p.Pro19fs)	TRAPPC12 (P19fs)	Deletion (frameshift variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GLikely pathogenic
Select item 2551366	NM_016030.6(TRAPPC12):c.2070C>G (p.His690Gln)	TRAPPC12, TRAPPC12-AS1 (H690Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551076	NM_016030.6(TRAPPC12):c.367G>A (p.Ala123Thr)	TRAPPC12 (A123T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549289	NM_016030.6(TRAPPC12):c.807G>C (p.Gln269His)	TRAPPC12 (Q269H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548162	NM_016030.6(TRAPPC12):c.1416G>C (p.Arg472Ser)	TRAPPC12 (R472S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529325	NM_016030.6(TRAPPC12):c.2120G>A (p.Arg707Gln)	TRAPPC12, TRAPPC12-AS1 (R707Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507501	NM_016030.6(TRAPPC12):c.898A>G (p.Met300Val)	TRAPPC12 (M300V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507397	NM_016030.6(TRAPPC12):c.1047+72_1047+73delinsCA	TRAPPC12	Indel (intron variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GBenign
Select item 2504760	NM_016030.6(TRAPPC12):c.2141C>A (p.Ala714Asp)	TRAPPC12, TRAPPC12-AS1 (A714D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2503263	NM_016030.6(TRAPPC12):c.2039T>C (p.Met680Thr)	TRAPPC12, TRAPPC12-AS1 (M680T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2488328	NM_016030.6(TRAPPC12):c.176C>T (p.Ala59Val)	TRAPPC12 (A59V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2482657	NM_016030.6(TRAPPC12):c.1339G>C (p.Glu447Gln)	TRAPPC12 (E447Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479995	NM_016030.6(TRAPPC12):c.1582G>T (p.Val528Leu)	TRAPPC12 (V528L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467995	NM_016030.6(TRAPPC12):c.445C>T (p.Gln149Ter)	TRAPPC12 (Q149*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2437252	NM_016030.6(TRAPPC12):c.2071G>C (p.Glu691Gln)	TRAPPC12, TRAPPC12-AS1 (E691Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 2437251	NM_016030.6(TRAPPC12):c.250_258dup (p.Gly86_Arg87insAspLeuGly)	TRAPPC12	Duplication (inframe_insertion)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 2437250	NM_016030.6(TRAPPC12):c.1693G>A (p.Val565Met)	TRAPPC12 (V565M)	Single nucleotide variant (missense variant)	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	GUncertain significance
Select item 2424126	NC_000002.11:g.(?_3391395)_(3428454_?)del	TRAPPC12	Deletion	not provided	GPathogenic
Select item 2423465	NC_000002.11:g.(?_3391395)_(3624240_?)dup	ADI1, RNASEH1 +2 more	Duplication	Diamond-Blackfan anemia 8	GUncertain significance
Select item 2401189	NM_016030.6(TRAPPC12):c.19G>A (p.Gly7Ser)	TRAPPC12 (G7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378352	NM_016030.6(TRAPPC12):c.1040A>G (p.Asn347Ser)	TRAPPC12 (N347S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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