ClinVar for Gene (Select 7109) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3460883	NM_003274.5(TRAPPC10):c.3635C>T (p.Ser1212Leu)	TRAPPC10 (S745L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460882	NM_003274.5(TRAPPC10):c.1373A>G (p.Tyr458Cys)	TRAPPC10 (Y458C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3460881	NM_003274.5(TRAPPC10):c.1110A>C (p.Glu370Asp)	TRAPPC10 (E370D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3460880	NM_003274.5(TRAPPC10):c.1289G>A (p.Arg430Gln)	TRAPPC10 (R430Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3460879	NM_003274.5(TRAPPC10):c.1714G>T (p.Asp572Tyr)	TRAPPC10 (D105Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460878	NM_003274.5(TRAPPC10):c.2069A>C (p.Asn690Thr)	TRAPPC10 (N223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460877	NM_003274.5(TRAPPC10):c.2812G>A (p.Ala938Thr)	TRAPPC10 (A471T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460876	NM_003274.5(TRAPPC10):c.409A>C (p.Lys137Gln)	TRAPPC10 (K137Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460875	NM_003274.5(TRAPPC10):c.2605G>C (p.Val869Leu)	TRAPPC10 (V869L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460874	NM_003274.5(TRAPPC10):c.2580C>A (p.Asp860Glu)	TRAPPC10 (D860E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460873	NM_003274.5(TRAPPC10):c.1330C>G (p.Leu444Val)	TRAPPC10 (L444V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3460872	NM_003274.5(TRAPPC10):c.3017C>T (p.Ser1006Leu)	TRAPPC10 (S539L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460870	NM_003274.5(TRAPPC10):c.394G>T (p.Ala132Ser)	TRAPPC10 (A132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3460869	NM_003274.5(TRAPPC10):c.2666C>T (p.Pro889Leu)	TRAPPC10 (P889L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392202	GRCh37/hg19 21q22.3(chr21:44822667-48097372)x3	ADARB1, AGPAT3 +57 more	Copy number gain	not provided	GUncertain significance
Select item 3391864	GRCh37/hg19 21q22.11-22.3(chr21:34586759-48097372)x3	KRTAP10-2, KRTAP10-3 +134 more	Copy number gain	not provided	GPathogenic
Select item 3328519	NM_003274.5(TRAPPC10):c.3061C>G (p.Pro1021Ala)	TRAPPC10 (P1021A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328518	NM_003274.5(TRAPPC10):c.1609A>G (p.Asn537Asp)	TRAPPC10 (N70D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328517	NM_003274.5(TRAPPC10):c.1978G>A (p.Glu660Lys)	TRAPPC10 (E193K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328516	NM_003274.5(TRAPPC10):c.3481G>A (p.Asp1161Asn)	TRAPPC10 (D1161N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328515	NM_003274.5(TRAPPC10):c.3457T>C (p.Phe1153Leu)	TRAPPC10 (F686L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328514	NM_003274.5(TRAPPC10):c.28C>G (p.Pro10Ala)	LOC130066806, TRAPPC10 (P10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248150	NC_000021.8:g.(?_44473990)_(45629566_?)del	AGPAT3, CBS +11 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3238789	NM_003274.5(TRAPPC10):c.3418C>T (p.Arg1140Trp)	TRAPPC10 (R1140W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, short stature, and speech delay +1 more	GUncertain significance
Select item 3181957	NM_003274.5(TRAPPC10):c.787G>A (p.Gly263Arg)	TRAPPC10 (G263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181956	NM_003274.5(TRAPPC10):c.640G>C (p.Glu214Gln)	TRAPPC10 (E214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181955	NM_003274.5(TRAPPC10):c.541G>A (p.Ala181Thr)	TRAPPC10 (A181T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181953	NM_003274.5(TRAPPC10):c.3596C>T (p.Pro1199Leu)	TRAPPC10 (P732L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181952	NM_003274.5(TRAPPC10):c.3559G>A (p.Asp1187Asn)	TRAPPC10 (D1187N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181951	NM_003274.5(TRAPPC10):c.3277T>G (p.Leu1093Val)	TRAPPC10 (L626V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181950	NM_003274.5(TRAPPC10):c.3143A>C (p.Tyr1048Ser)	TRAPPC10 (Y581S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181949	NM_003274.5(TRAPPC10):c.2989T>C (p.Ser997Pro)	TRAPPC10 (S530P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181948	NM_003274.5(TRAPPC10):c.2806G>A (p.Val936Ile)	TRAPPC10 (V469I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181946	NM_003274.5(TRAPPC10):c.2485A>G (p.Met829Val)	TRAPPC10 (M362V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181945	NM_003274.5(TRAPPC10):c.2482G>A (p.Ala828Thr)	TRAPPC10 (A361T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181944	NM_003274.5(TRAPPC10):c.2420C>G (p.Thr807Ser)	TRAPPC10 (T807S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181943	NM_003274.5(TRAPPC10):c.2385C>G (p.Ser795Arg)	TRAPPC10 (S328R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181942	NM_003274.5(TRAPPC10):c.2302G>A (p.Val768Ile)	TRAPPC10 (V301I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181941	NM_003274.5(TRAPPC10):c.2013G>C (p.Leu671Phe)	TRAPPC10 (L671F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181940	NM_003274.5(TRAPPC10):c.1741C>T (p.Pro581Ser)	TRAPPC10 (P114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181939	NM_003274.5(TRAPPC10):c.1670A>G (p.Lys557Arg)	TRAPPC10 (K557R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181938	NM_003274.5(TRAPPC10):c.1585C>G (p.Gln529Glu)	TRAPPC10 (Q529E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181937	NM_003274.5(TRAPPC10):c.1504C>T (p.Leu502Phe)	TRAPPC10 (L35F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181936	NM_003274.5(TRAPPC10):c.1499T>C (p.Ile500Thr)	TRAPPC10 (I500T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3051846	NM_003274.5(TRAPPC10):c.3028G>A (p.Val1010Ile)	TRAPPC10 (V1010I +1 more)	Single nucleotide variant (missense variant)	TRAPPC10-related disorder	GLikely benign
Select item 3048396	NM_003274.5(TRAPPC10):c.2623G>A (p.Val875Met)	TRAPPC10 (V408M +1 more)	Single nucleotide variant (missense variant)	TRAPPC10-related disorder	GLikely benign
Select item 3034396	NM_003274.5(TRAPPC10):c.149+5G>C	TRAPPC10	Single nucleotide variant (intron variant)	TRAPPC10-related disorder	GLikely benign
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684920	GRCh37/hg19 21q22.3(chr21:44925905-45717716)x3	AGPAT3, AIRE +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2626979	NM_003274.5(TRAPPC10):c.2441C>T (p.Thr814Met)	TRAPPC10 (T347M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2626978	NM_003274.5(TRAPPC10):c.2827G>A (p.Val943Ile)	TRAPPC10 (V476I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611836	NM_003274.5(TRAPPC10):c.997G>A (p.Glu333Lys)	TRAPPC10 (E333K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597969	NM_003274.5(TRAPPC10):c.2534C>T (p.Thr845Met)	TRAPPC10 (T378M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2584839	NM_003274.5(TRAPPC10):c.14A>G (p.Glu5Gly)	LOC130066806, TRAPPC10 (E5G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, short stature, and speech delay	GUncertain significance
Select item 2560467	NM_003274.5(TRAPPC10):c.2671C>G (p.Leu891Val)	TRAPPC10 (L424V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550700	NM_003274.5(TRAPPC10):c.3689C>T (p.Pro1230Leu)	TRAPPC10 (P1230L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544709	NM_003274.5(TRAPPC10):c.2554G>T (p.Ala852Ser)	TRAPPC10 (A385S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534699	NM_003274.5(TRAPPC10):c.10T>C (p.Ser4Pro)	LOC130066806, TRAPPC10 (S4P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533506	NM_003274.5(TRAPPC10):c.1396A>T (p.Ile466Phe)	TRAPPC10 (I466F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2531427	NM_003274.5(TRAPPC10):c.3441G>A (p.Met1147Ile)	TRAPPC10 (M680I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527318	NM_003274.5(TRAPPC10):c.480C>A (p.Asp160Glu)	TRAPPC10 (D160E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525241	NM_003274.5(TRAPPC10):c.1795G>A (p.Val599Met)	TRAPPC10 (V599M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524765	NM_003274.5(TRAPPC10):c.3424A>G (p.Thr1142Ala)	TRAPPC10 (T1142A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522033	NM_003274.5(TRAPPC10):c.2842A>G (p.Thr948Ala)	TRAPPC10 (T481A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520024	NM_003274.5(TRAPPC10):c.1160G>A (p.Gly387Glu)	TRAPPC10 (G387E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2518503	NM_003274.5(TRAPPC10):c.392A>T (p.Asp131Val)	TRAPPC10 (D131V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516471	NM_003274.5(TRAPPC10):c.2302G>C (p.Val768Leu)	TRAPPC10 (V768L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502439	NM_003274.5(TRAPPC10):c.940C>T (p.Gln314Ter)	TRAPPC10 (Q314*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, short stature, and speech delay	GLikely pathogenic
Select item 2502438	NM_003274.5(TRAPPC10):c.1512_1513insAA (p.Ala505fs)	TRAPPC10 (A38fs +1 more)	Insertion (frameshift variant)	Neurodevelopmental disorder with microcephaly, short stature, and speech delay	GLikely pathogenic
Select item 2493751	NM_003274.5(TRAPPC10):c.710A>G (p.Gln237Arg)	TRAPPC10 (Q237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485204	NM_003274.5(TRAPPC10):c.1468A>C (p.Met490Leu)	TRAPPC10 (M490L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484357	NM_003274.5(TRAPPC10):c.1397T>C (p.Ile466Thr)	TRAPPC10 (I466T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2477249	NM_003274.5(TRAPPC10):c.3440T>C (p.Met1147Thr)	TRAPPC10 (M1147T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457411	NM_003274.5(TRAPPC10):c.2578G>A (p.Asp860Asn)	TRAPPC10 (D393N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455404	NM_003274.5(TRAPPC10):c.784G>T (p.Ala262Ser)	TRAPPC10 (A262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2412115	NM_003274.5(TRAPPC10):c.2744G>A (p.Arg915His)	TRAPPC10 (R915H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377514	NM_003274.5(TRAPPC10):c.20C>T (p.Pro7Leu)	LOC130066806, TRAPPC10 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375095	NM_003274.5(TRAPPC10):c.1834A>G (p.Met612Val)	TRAPPC10 (M612V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374931	NM_003274.5(TRAPPC10):c.1709C>T (p.Pro570Leu)	TRAPPC10 (P103L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372128	NM_003274.5(TRAPPC10):c.2166G>T (p.Glu722Asp)	TRAPPC10 (E722D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366860	NM_003274.5(TRAPPC10):c.2691G>C (p.Met897Ile)	TRAPPC10 (M897I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366805	NM_003274.5(TRAPPC10):c.121C>T (p.Leu41Phe)	TRAPPC10 (L41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362807	NM_003274.5(TRAPPC10):c.107C>T (p.Thr36Met)	TRAPPC10 (T36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362643	NM_003274.5(TRAPPC10):c.2947G>A (p.Gly983Ser)	TRAPPC10 (G516S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361213	NM_003274.5(TRAPPC10):c.29C>T (p.Pro10Leu)	LOC130066806, TRAPPC10 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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