ClinVar for Gene (Select 10125) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3151850	NM_005739.4(RASGRP1):c.722A>G (p.Asn241Ser)	RASGRP1 (N241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151849	NM_005739.4(RASGRP1):c.673T>C (p.Ser225Pro)	RASGRP1 (S225P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151848	NM_005739.4(RASGRP1):c.475G>A (p.Ala159Thr)	RASGRP1 (A159T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151847	NM_005739.4(RASGRP1):c.415A>T (p.Met139Leu)	RASGRP1 (M139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151846	NM_005739.4(RASGRP1):c.1817C>T (p.Thr606Ile)	RASGRP1 (T606I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065919	NM_005739.4(RASGRP1):c.1147C>A (p.Leu383Ile)	RASGRP1 (L383I)	Single nucleotide variant (missense variant)	Immunodeficiency 64	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063372	GRCh37/hg19 15q14(chr15:34990168-39236311)x1	ACTC1, AQR +10 more	Copy number loss	not specified	GPathogenic
Select item 3013600	NM_005739.4(RASGRP1):c.2196_2199del (p.Ser732_Leu733insTer)	RASGRP1	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3013334	NM_005739.4(RASGRP1):c.1897T>C (p.Phe633Leu)	RASGRP1 (F633L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3009094	NM_005739.4(RASGRP1):c.390-9T>C	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008098	NM_005739.4(RASGRP1):c.255G>A (p.Leu85=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007105	NM_005739.4(RASGRP1):c.1389T>C (p.Asp463=)	RASGRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006142	NM_005739.4(RASGRP1):c.2260-13C>T	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001735	NM_005739.4(RASGRP1):c.737G>A (p.Arg246Gln)	RASGRP1 (R246Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999417	NM_005739.4(RASGRP1):c.389+15T>C	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997609	NM_005739.4(RASGRP1):c.1993A>G (p.Lys665Glu)	RASGRP1 (K665E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994485	NM_005739.4(RASGRP1):c.168A>G (p.Leu56=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992032	NM_005739.4(RASGRP1):c.1172G>C (p.Ser391Thr)	RASGRP1 (S391T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990664	NM_005739.4(RASGRP1):c.390-7C>T	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989320	NM_005739.4(RASGRP1):c.1453G>A (p.Asp485Asn)	RASGRP1 (D485N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984718	NM_005739.4(RASGRP1):c.676-19G>A	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981940	NM_005739.4(RASGRP1):c.1766T>C (p.Phe589Ser)	RASGRP1 (F554S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980482	NM_005739.4(RASGRP1):c.1721-8G>C	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979512	NM_005739.4(RASGRP1):c.1126G>A (p.Gly376Arg)	RASGRP1 (G376R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978741	NM_005739.4(RASGRP1):c.1429-7T>A	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976504	NM_005739.4(RASGRP1):c.1721-11C>T	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974186	NM_005739.4(RASGRP1):c.1045G>A (p.Asp349Asn)	RASGRP1 (D349N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970342	NM_005739.4(RASGRP1):c.2061A>G (p.Ser687=)	RASGRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968605	NM_005739.4(RASGRP1):c.567A>G (p.Ser189=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966828	NM_005739.4(RASGRP1):c.2244C>T (p.Tyr748=)	RASGRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964959	NM_005739.4(RASGRP1):c.800C>T (p.Thr267Met)	RASGRP1 (T267M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961442	NM_005739.4(RASGRP1):c.1025G>A (p.Arg342Gln)	RASGRP1 (R342Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918515	NM_005739.4(RASGRP1):c.2349A>G (p.Lys783=)	RASGRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2915762	NM_005739.4(RASGRP1):c.1452C>T (p.His484=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909037	NM_005739.4(RASGRP1):c.585G>A (p.Arg195=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907731	NM_005739.4(RASGRP1):c.1942C>T (p.Arg648Trp)	RASGRP1 (R613W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2898924	NM_005739.4(RASGRP1):c.234C>T (p.Asn78=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891792	NM_005739.4(RASGRP1):c.1500G>A (p.Ala500=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883289	NM_005739.4(RASGRP1):c.9C>A (p.Thr3=)	LOC130056800, RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881262	NM_005739.4(RASGRP1):c.1162A>C (p.Asn388His)	RASGRP1 (N388H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878945	NM_005739.4(RASGRP1):c.1296C>T (p.Ala432=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878940	NM_005739.4(RASGRP1):c.585G>C (p.Arg195=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878681	NM_005739.4(RASGRP1):c.912C>T (p.Ser304=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876678	NM_005739.4(RASGRP1):c.729C>T (p.Thr243=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874372	NM_005739.4(RASGRP1):c.794G>A (p.Arg265His)	RASGRP1 (R265H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874031	NM_005739.4(RASGRP1):c.1934G>A (p.Ser645Asn)	RASGRP1 (S610N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2873852	NM_005739.4(RASGRP1):c.1184A>C (p.Gln395Pro)	RASGRP1 (Q395P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867470	NM_005739.4(RASGRP1):c.1401T>C (p.Ile467=)	RASGRP1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2857601	NM_005739.4(RASGRP1):c.676-7C>T	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849948	NM_005739.4(RASGRP1):c.105C>T (p.Phe35=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847933	NM_005739.4(RASGRP1):c.1874-6dup	RASGRP1	Duplication (intron variant)	not provided	GLikely benign
Select item 2845793	NM_005739.4(RASGRP1):c.1092C>T (p.Ser364=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845195	NM_005739.4(RASGRP1):c.966+13G>A	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841352	NM_005739.4(RASGRP1):c.1428+1G>A	RASGRP1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2837446	NM_005739.4(RASGRP1):c.390-14C>T	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837377	NM_005739.4(RASGRP1):c.1024C>T (p.Arg342Ter)	RASGRP1 (R342*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2815424	NM_005739.4(RASGRP1):c.1683+20C>T	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812307	NM_005739.4(RASGRP1):c.888T>C (p.Ala296=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809932	NM_005739.4(RASGRP1):c.1713A>T (p.Arg571=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808160	NM_005739.4(RASGRP1):c.2076G>A (p.Leu692=)	RASGRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2806584	NM_005739.4(RASGRP1):c.1518_1519del (p.Phe506fs)	RASGRP1 (F471fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2804054	NM_005739.4(RASGRP1):c.1998G>A (p.Arg666=)	RASGRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2797633	NM_005739.4(RASGRP1):c.1874-14G>C	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796749	NM_005739.4(RASGRP1):c.1429-18A>G	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795055	NM_005739.4(RASGRP1):c.2334C>T (p.Ser778=)	RASGRP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2793264	NM_005739.4(RASGRP1):c.36-12C>G	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792321	NM_005739.4(RASGRP1):c.1488A>G (p.Glu496=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788890	NM_005739.4(RASGRP1):c.1720+11A>T	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780827	NM_005739.4(RASGRP1):c.849+9C>G	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780386	NM_005739.4(RASGRP1):c.897T>C (p.Gly299=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775752	NM_005739.4(RASGRP1):c.1599T>C (p.Tyr533=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2771966	NM_005739.4(RASGRP1):c.2229C>G (p.Leu743=)	RASGRP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2756630	NM_005739.4(RASGRP1):c.1683+16G>A	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2750753	NM_005739.4(RASGRP1):c.1234T>C (p.Leu412=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742761	NM_005739.4(RASGRP1):c.1095G>T (p.Leu365=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741616	NM_005739.4(RASGRP1):c.945dup (p.Val316fs)	RASGRP1 (V316fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2737160	NM_005739.4(RASGRP1):c.803C>T (p.Pro268Leu)	RASGRP1 (P268L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722005	NM_005739.4(RASGRP1):c.1241C>T (p.Thr414Met)	RASGRP1 (T414M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716221	NM_005739.4(RASGRP1):c.327-6C>T	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2716185	NM_005739.4(RASGRP1):c.101C>T (p.Pro34Leu)	RASGRP1 (P34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708429	NM_005739.4(RASGRP1):c.233A>G (p.Asn78Ser)	RASGRP1 (N78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707362	NM_005739.4(RASGRP1):c.219dup (p.Asp74Ter)	RASGRP1 (D74*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2700406	NM_005739.4(RASGRP1):c.676-16G>A	RASGRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694891	NM_005739.4(RASGRP1):c.549T>A (p.Leu183=)	RASGRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688490	NM_005739.4(RASGRP1):c.1721-136G>A	RASGRP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688101	NM_005739.4(RASGRP1):c.850-100dup	RASGRP1	Duplication (intron variant)	not specified	GBenign
Select item 2684755	GRCh37/hg19 15q14(chr15:38823493-39911204)x3	FSIP1, LINC02694 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2645160	NM_005739.4(RASGRP1):c.849+8A>G	RASGRP1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2645159	NM_005739.4(RASGRP1):c.2097C>A (p.Ala699=)	RASGRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645158	NM_005739.4(RASGRP1):c.2121C>T (p.Pro707=)	RASGRP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2628280	NM_005739.4(RASGRP1):c.1684-90T>C	RASGRP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628227	NM_005739.4(RASGRP1):c.1873+110A>G	RASGRP1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2623664	NM_005739.4(RASGRP1):c.1016A>G (p.Asn339Ser)	RASGRP1 (N339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612817	NM_005739.4(RASGRP1):c.1359C>G (p.Asp453Glu)	RASGRP1 (D453E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611701	NM_005739.4(RASGRP1):c.559A>C (p.Ile187Leu)	RASGRP1 (I187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553377	NM_005739.4(RASGRP1):c.443A>T (p.Asp148Val)	RASGRP1 (D148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520227	NM_005739.4(RASGRP1):c.1963G>A (p.Val655Met)	RASGRP1 (V620M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2502218	NM_005739.4(RASGRP1):c.2163G>T (p.Lys721Asn)	RASGRP1 (K686N +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 64	GUncertain significance

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