ClinVar for Gene (Select 10235) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244789	NC_000011.9:g.(?_64497214)_(64518075_?)del	PYGM, RASGRP2	Deletion	not provided	GPathogenic
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3233761	NM_001098671.2(RASGRP2):c.1118C>T (p.Thr373Met)	RASGRP2 (T228M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151856	NM_001098671.2(RASGRP2):c.898C>T (p.Arg300Cys)	RASGRP2 (R155C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151855	NM_001098671.2(RASGRP2):c.247A>C (p.Ile83Leu)	RASGRP2 (I83L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3151854	NM_001098671.2(RASGRP2):c.1480C>T (p.Arg494Cys)	RASGRP2 (R349C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151852	NM_001098671.2(RASGRP2):c.1240G>A (p.Ala414Thr)	RASGRP2 (A269T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3151851	NM_001098671.2(RASGRP2):c.1214C>T (p.Pro405Leu)	RASGRP2 (P405L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068823	NM_001098671.2(RASGRP2):c.444GTT[1] (p.Leu149del)	RASGRP2 (L149del +1 more)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 3063794	NM_001098671.2(RASGRP2):c.1133A>T (p.Tyr378Phe)	RASGRP2 (Y233F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3053141	NM_001098671.2(RASGRP2):c.1412+2T>C	RASGRP2	Single nucleotide variant (splice donor variant)	RASGRP2-related disorder	GLikely pathogenic
Select item 3021685	NM_001098671.2(RASGRP2):c.372-20C>G	RASGRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3002489	NM_001098671.2(RASGRP2):c.447G>C (p.Leu149Phe)	RASGRP2 (L149F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999092	NM_001098671.2(RASGRP2):c.1173+1G>A	RASGRP2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2993641	NM_001098671.2(RASGRP2):c.243C>T (p.Tyr81=)	RASGRP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979359	NM_001098671.2(RASGRP2):c.891G>A (p.Val297=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979134	NM_001098671.2(RASGRP2):c.687C>T (p.His229=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974324	NM_001098671.2(RASGRP2):c.1428C>T (p.Ser476=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973498	NM_001098671.2(RASGRP2):c.1207C>T (p.Arg403Trp)	RASGRP2 (R258W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972645	NM_001098671.2(RASGRP2):c.1096-9G>A	RASGRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967990	NM_001098671.2(RASGRP2):c.239+12C>G	RASGRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967331	NM_001098671.2(RASGRP2):c.69C>T (p.Ala23=)	RASGRP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966567	NM_001098671.2(RASGRP2):c.726G>A (p.Thr242=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965570	NM_001098671.2(RASGRP2):c.1297-16C>T	RASGRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962363	NM_001098671.2(RASGRP2):c.372-5C>G	RASGRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961410	NM_001098671.2(RASGRP2):c.1187C>T (p.Thr396Met)	RASGRP2 (T251M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2957817	NM_001098671.2(RASGRP2):c.1236G>A (p.Ser412=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954939	NM_001098671.2(RASGRP2):c.697-20C>T	RASGRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909661	NM_001098671.2(RASGRP2):c.1188G>A (p.Thr396=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909582	NM_001098671.2(RASGRP2):c.801T>A (p.Pro267=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907796	NM_001098671.2(RASGRP2):c.660G>A (p.Arg220=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899958	NM_001098671.2(RASGRP2):c.954G>C (p.Leu318=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899474	NM_001098671.2(RASGRP2):c.1719C>T (p.Arg573=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895180	NM_001098671.2(RASGRP2):c.503G>A (p.Arg168His)	RASGRP2 (R23H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893971	NM_001098671.2(RASGRP2):c.792C>T (p.His264=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888643	NM_001098671.2(RASGRP2):c.990C>T (p.Asn330=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882030	NM_001098671.2(RASGRP2):c.1281C>T (p.Ile427=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881774	NM_001098671.2(RASGRP2):c.939C>T (p.Ala313=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857285	NM_001098671.2(RASGRP2):c.411C>T (p.Asn137=)	RASGRP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2835788	NM_001098671.2(RASGRP2):c.519C>A (p.Ile173=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833016	NM_001098671.2(RASGRP2):c.1592-7C>T	RASGRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801860	NM_001098671.2(RASGRP2):c.270T>C (p.Phe90=)	RASGRP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2798390	NM_001098671.2(RASGRP2):c.531C>T (p.Asp177=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789449	NM_001098671.2(RASGRP2):c.1353C>T (p.Phe451=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782996	NM_001098671.2(RASGRP2):c.1296+19T>C	RASGRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782122	NM_001098671.2(RASGRP2):c.1413-15del	RASGRP2	Deletion (intron variant)	not provided	GBenign
Select item 2772846	NM_001098671.2(RASGRP2):c.204dup (p.Asn69fs)	RASGRP2 (N69fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2758088	NM_001098671.2(RASGRP2):c.1777C>T (p.Arg593Cys)	RASGRP2 (R593C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2748895	NM_001098671.2(RASGRP2):c.239+1G>A	RASGRP2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2745328	NM_001098671.2(RASGRP2):c.477G>A (p.Ala159=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741705	NM_001098671.2(RASGRP2):c.693G>A (p.Ala231=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737271	NM_001098671.2(RASGRP2):c.1195_1196dup (p.Pro401fs)	RASGRP2 (P256fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2735638	NM_001098671.2(RASGRP2):c.990C>G (p.Asn330Lys)	RASGRP2 (N330K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730192	NM_001098671.2(RASGRP2):c.973del (p.Ala325fs)	RASGRP2 (A325fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2723149	NM_001098671.2(RASGRP2):c.1386C>T (p.Ser462=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722628	NM_001098671.2(RASGRP2):c.99G>A (p.Pro33=)	RASGRP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2716813	NM_001098671.2(RASGRP2):c.741C>T (p.Val247=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2711867	NM_001098671.2(RASGRP2):c.1335C>T (p.His445=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710365	NM_001098671.2(RASGRP2):c.1338C>T (p.Ile446=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694874	NM_001098671.2(RASGRP2):c.240-9C>G	RASGRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2691520	NM_001098671.2(RASGRP2):c.195G>A (p.Lys65=)	RASGRP2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2682523	NM_001098671.2(RASGRP2):c.456C>G (p.His152Gln)	RASGRP2 (H152Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2664785	NM_001098671.2(RASGRP2):c.371+5G>T	RASGRP2	Single nucleotide variant (intron variant)	Platelet-type bleeding disorder 18	GUncertain significance
Select item 2641930	NM_001098671.2(RASGRP2):c.-71-449G>A	RASGRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641929	NM_001098671.2(RASGRP2):c.1215G>A (p.Pro405=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614253	NM_001098671.2(RASGRP2):c.1684C>A (p.Pro562Thr)	RASGRP2 (P417T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606676	NM_001098671.2(RASGRP2):c.739G>A (p.Val247Ile)	RASGRP2 (V102I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601816	NM_001098671.2(RASGRP2):c.502C>T (p.Arg168Cys)	RASGRP2 (R23C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573347	NM_001098671.2(RASGRP2):c.1159C>G (p.Arg387Gly)	RASGRP2 (R242G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570517	NM_001098671.2(RASGRP2):c.1627C>T (p.Arg543Cys)	RASGRP2 (R398C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549173	NM_001098671.2(RASGRP2):c.1549G>T (p.Ala517Ser)	RASGRP2 (A372S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521656	NM_001098671.2(RASGRP2):c.793G>A (p.Val265Ile)	RASGRP2 (V120I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474551	NM_001098671.2(RASGRP2):c.1315G>A (p.Asp439Asn)	RASGRP2 (D294N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446127	NM_001098671.2(RASGRP2):c.1306C>T (p.Arg436Trp)	RASGRP2 (R291W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2418127	NM_001098671.2(RASGRP2):c.319C>A (p.Leu107Ile)	RASGRP2 (L107I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2414023	NM_001098671.2(RASGRP2):c.696+20G>A	RASGRP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2394368	NM_001098671.2(RASGRP2):c.842C>T (p.Thr281Met)	RASGRP2 (T136M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323948	NM_001098671.2(RASGRP2):c.1540C>T (p.His514Tyr)	RASGRP2 (H369Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317158	NM_001098671.2(RASGRP2):c.112A>C (p.Met38Leu)	RASGRP2 (M38L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309926	NM_001098671.2(RASGRP2):c.1457G>A (p.Arg486His)	RASGRP2 (R341H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297102	NM_001098671.2(RASGRP2):c.1292T>C (p.Val431Ala)	RASGRP2 (V431A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271880	NM_001098671.2(RASGRP2):c.1503C>A (p.Phe501Leu)	RASGRP2 (F356L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265448	NM_001098671.2(RASGRP2):c.170T>G (p.Leu57Arg)	RASGRP2 (L57R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261951	NM_001098671.2(RASGRP2):c.552T>A (p.His184Gln)	RASGRP2 (H184Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253326	NM_001098671.2(RASGRP2):c.407G>A (p.Arg136Gln)	RASGRP2 (R136Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2185610	NM_001098671.2(RASGRP2):c.372-3C>A	RASGRP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2173061	NM_001098671.2(RASGRP2):c.1150C>T (p.Arg384Trp)	RASGRP2 (R239W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168425	NM_001098671.2(RASGRP2):c.654G>A (p.Pro218=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2164582	NM_001098671.2(RASGRP2):c.1211C>A (p.Pro404His)	RASGRP2 (P259H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2158574	NM_001098671.2(RASGRP2):c.1718G>T (p.Arg573Leu)	RASGRP2 (R428L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2155238	NM_001098671.2(RASGRP2):c.653C>T (p.Pro218Leu)	RASGRP2 (P73L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142968	NM_001098671.2(RASGRP2):c.1563C>T (p.Gly521=)	RASGRP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129704	NM_001098671.2(RASGRP2):c.1174-13A>G	RASGRP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114720	NM_001098671.2(RASGRP2):c.243C>G (p.Tyr81Ter)	RASGRP2 (Y81*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2077833	NM_001098671.2(RASGRP2):c.991G>A (p.Gly331Arg)	RASGRP2 (G186R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071358	NM_001098671.2(RASGRP2):c.14T>C (p.Leu5Pro)	LOC130005945, RASGRP2 (L5P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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