ClinVar for Gene (Select 83696) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3182045	NM_001160372.4(TRAPPC9):c.379C>G (p.Gln127Glu)	TRAPPC9 (Q127E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182043	NM_001160372.4(TRAPPC9):c.110G>T (p.Arg37Met)	TRAPPC9 (R37M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182041	NM_001160372.4(TRAPPC9):c.3108G>C (p.Gln1036His)	TRAPPC9 (Q1027H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182040	NM_001160372.4(TRAPPC9):c.3086G>A (p.Arg1029His)	TRAPPC9 (R981H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182039	NM_001160372.4(TRAPPC9):c.3038T>C (p.Leu1013Pro)	TRAPPC9 (L1020P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182038	NM_001160372.4(TRAPPC9):c.23A>T (p.Gln8Leu)	TRAPPC9 (Q8L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182037	NM_001160372.4(TRAPPC9):c.2002G>A (p.Gly668Ser)	TRAPPC9 (G675S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182036	NM_001160372.4(TRAPPC9):c.866A>G (p.Gln289Arg)	TRAPPC9 (Q289R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065432	NM_001160372.4(TRAPPC9):c.2074C>A (p.Pro692Thr)	TRAPPC9 (P644T +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 3064674	NM_001160372.4(TRAPPC9):c.700C>T (p.Arg234Cys)	TRAPPC9 (R234C +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 3064394	NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)	TRAPPC9 (E793fs +3 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 13	GPathogenic
Select item 3063740	NM_001160372.4(TRAPPC9):c.203G>A (p.Trp68Ter)	TRAPPC9 (W68*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 13	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3052184	NM_001160372.4(TRAPPC9):c.2664A>G (p.Val888=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition	GLikely benign
Select item 3044839	NM_031466.8(TRAPPC9):c.-157A>C	TRAPPC9	Single nucleotide variant (5 prime UTR variant)	TRAPPC9-related condition	GLikely benign
Select item 3034219	NM_001160372.4(TRAPPC9):c.252A>C (p.Thr84=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition	GLikely benign
Select item 3033030	NM_001160372.4(TRAPPC9):c.108G>A (p.Lys36=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	TRAPPC9-related condition	GLikely benign
Select item 3029757	NM_001160372.4(TRAPPC9):c.2727T>C (p.Asp909=)	TRAPPC9	Single nucleotide variant (synonymous variant +2 more)	TRAPPC9-related condition	GLikely benign
Select item 3029178	NM_001160372.4(TRAPPC9):c.1045del (p.Ile349fs)	TRAPPC9 (I340fs +2 more)	Deletion (frameshift variant +1 more)	TRAPPC9-related condition	GLikely pathogenic
Select item 3025067	NM_001160372.4(TRAPPC9):c.2811-22128T>G	C8orf17, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3025066	NM_001160372.4(TRAPPC9):c.2811-22080T>A	C8orf17, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3025065	NM_001160372.4(TRAPPC9):c.2811-22051C>T	C8orf17, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3025064	NM_001160372.4(TRAPPC9):c.2811-21986T>C	C8orf17, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3025063	NM_001160372.4(TRAPPC9):c.2811-21985G>A	C8orf17, TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	OPLAH, PARP10 +173 more	Copy number gain	not provided	GPathogenic
Select item 3017665	NM_001160372.4(TRAPPC9):c.933C>T (p.Ile311=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017266	NM_001160372.4(TRAPPC9):c.465G>A (p.Leu155=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012416	NM_001160372.4(TRAPPC9):c.1758C>A (p.Asn586Lys)	TRAPPC9 (N593K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011273	NM_001160372.4(TRAPPC9):c.1495+10C>T	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009579	NM_001160372.4(TRAPPC9):c.129G>A (p.Gln43=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007706	NM_001160372.4(TRAPPC9):c.1352-4G>T	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007215	NM_001160372.4(TRAPPC9):c.231C>G (p.Val77=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007036	NM_001160372.4(TRAPPC9):c.57G>A (p.Val19=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006798	NM_001160372.4(TRAPPC9):c.1884G>A (p.Glu628=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3002742	NM_001160372.4(TRAPPC9):c.2142T>C (p.Ser714=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999457	NM_001160372.4(TRAPPC9):c.825C>G (p.Thr275=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996496	NM_001160372.4(TRAPPC9):c.2699+13C>T	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995029	NM_001160372.4(TRAPPC9):c.1176C>T (p.Ser392=)	TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2994412	NM_001160372.4(TRAPPC9):c.2700-12T>C	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993675	NM_001160372.4(TRAPPC9):c.2279-10A>G	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992893	NM_001160372.4(TRAPPC9):c.1623-15T>C	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991444	NM_001160372.4(TRAPPC9):c.3042G>A (p.Ala1014=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991265	NM_031466.8(TRAPPC9):c.-204C>G	TRAPPC9	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2989988	NM_001160372.4(TRAPPC9):c.585-20C>A	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984014	NM_031466.8(TRAPPC9):c.-100C>T	TRAPPC9	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2983537	NM_001160372.4(TRAPPC9):c.1608G>A (p.Lys536=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978771	NM_001160372.4(TRAPPC9):c.237C>A (p.Gly79=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977981	NM_001160372.4(TRAPPC9):c.2121A>G (p.Ala707=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972989	NM_001160372.4(TRAPPC9):c.1622+10G>A	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972367	NM_001160372.4(TRAPPC9):c.51C>T (p.Leu17=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972076	NM_001160372.4(TRAPPC9):c.3051G>A (p.Gln1017=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2970556	NM_001160372.4(TRAPPC9):c.2964+12C>T	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969288	NM_001160372.4(TRAPPC9):c.2194C>T (p.Gln732Ter)	TRAPPC9 (Q684* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2969193	NM_001160372.4(TRAPPC9):c.1530T>C (p.Tyr510=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967671	NM_001160372.4(TRAPPC9):c.842C>T (p.Ala281Val)	TRAPPC9 (A288V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964635	NM_001160372.4(TRAPPC9):c.585-11G>A	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962570	NM_001160372.4(TRAPPC9):c.1575C>A (p.Gly525=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961226	NM_001160372.4(TRAPPC9):c.887-9G>T	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960146	NM_001160372.4(TRAPPC9):c.2114+12G>A	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959147	NM_001160372.4(TRAPPC9):c.2397C>T (p.Ser799=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958853	NM_001160372.4(TRAPPC9):c.1911G>C (p.Pro637=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2913435	NM_001160372.4(TRAPPC9):c.2598G>A (p.Pro866=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906893	NM_001160372.4(TRAPPC9):c.456C>G (p.Ile152Met)	TRAPPC9 (I152M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2905240	NM_001160372.4(TRAPPC9):c.168C>T (p.Arg56=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2904131	NM_001160372.4(TRAPPC9):c.1953G>A (p.Pro651=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2904098	NM_001160372.4(TRAPPC9):c.1353C>T (p.Gly451=)	TRAPPC9	Single nucleotide variant (synonymous variant +2 more)	TRAPPC9-related condition +1 more	GBenign/Likely benign
Select item 2900778	NM_001160372.4(TRAPPC9):c.2259G>A (p.Ser753=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894919	NM_001160372.4(TRAPPC9):c.2082G>A (p.Leu694=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892548	NM_001160372.4(TRAPPC9):c.1137T>C (p.Leu379=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887909	NM_001160372.4(TRAPPC9):c.1768+1G>A	TRAPPC9	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2882748	NM_001160372.4(TRAPPC9):c.429G>A (p.Thr143=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881221	NM_001160372.4(TRAPPC9):c.584+10C>T	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879599	NM_001160372.4(TRAPPC9):c.2739C>A (p.Ser913=)	TRAPPC9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2878084	NM_001160372.4(TRAPPC9):c.1807C>T (p.Leu603=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2858854	NM_031466.8(TRAPPC9):c.-238T>C	TRAPPC9	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2851751	NM_001160372.4(TRAPPC9):c.886+12A>G	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849180	NM_031466.8(TRAPPC9):c.-110_-103dup	TRAPPC9	Duplication (5 prime UTR variant)	not provided	GPathogenic
Select item 2840054	NM_001160372.4(TRAPPC9):c.11C>G (p.Pro4Arg)	TRAPPC9 (P4R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2834621	NM_001160372.4(TRAPPC9):c.2641C>T (p.His881Tyr)	TRAPPC9 (H888Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2833015	NM_001160372.4(TRAPPC9):c.730+16G>A	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824086	NM_001160372.4(TRAPPC9):c.2965-11C>G	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818074	NM_001160372.4(TRAPPC9):c.1113A>C (p.Ala371=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2812580	NM_001160372.4(TRAPPC9):c.2278+14G>A	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808704	NM_001160372.4(TRAPPC9):c.2556+13G>C	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806735	NM_001160372.4(TRAPPC9):c.1860G>A (p.Leu620=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805563	NM_001160372.4(TRAPPC9):c.2625T>C (p.Asn875=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787000	NM_001160372.4(TRAPPC9):c.1135-16dup	TRAPPC9	Duplication (intron variant)	not provided	GLikely benign
Select item 2779217	NM_001160372.4(TRAPPC9):c.1281C>G (p.Ala427=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2778686	NM_001160372.4(TRAPPC9):c.2841dup (p.Glu948Ter)	TRAPPC9 (E911* +4 more)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 2778018	NM_001160372.4(TRAPPC9):c.1941C>T (p.Leu647=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2769022	NM_001160372.4(TRAPPC9):c.3351C>T (p.His1117=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2762868	NM_001160372.4(TRAPPC9):c.860-16C>G	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2759021	NM_001160372.4(TRAPPC9):c.2018del (p.Cys673fs)	TRAPPC9 (C625fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2754903	NM_001160372.4(TRAPPC9):c.2431+17T>G	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752583	NM_001160372.4(TRAPPC9):c.2279-18T>C	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752127	NM_001160372.4(TRAPPC9):c.604del (p.Gln202fs)	TRAPPC9 (Q209fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2750533	NM_001160372.4(TRAPPC9):c.2632C>T (p.Leu878=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2749426	NM_001160372.4(TRAPPC9):c.1299G>T (p.Leu433=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2743769	NM_001160372.4(TRAPPC9):c.731-2A>C	TRAPPC9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2732017	NM_001160372.4(TRAPPC9):c.1412C>T (p.Ser471Phe)	TRAPPC9 (S462F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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