ClinVar for MedGen (Select 762276) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 671

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236265	NM_001006658.3(CR2):c.735G>T (p.Gly245=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 3061908	NM_001006658.3(CR2):c.590G>C (p.Cys197Ser)	CR2 (C197S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GLikely pathogenic
Select item 3022333	NM_001006658.3(CR2):c.2275C>T (p.Gln759Ter)	CR2 (Q700* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
Select item 3017066	NM_001006658.3(CR2):c.1158G>A (p.Lys386=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 3011218	NM_001006658.3(CR2):c.3246A>C (p.Val1082=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 3000258	NM_001006658.3(CR2):c.1333C>G (p.Leu445Val)	CR2 (L445V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2999090	NM_001006658.3(CR2):c.2761C>A (p.His921Asn)	CR2 (H921N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2990409	NM_001006658.3(CR2):c.1509G>A (p.Gly503=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2987740	NM_001006658.3(CR2):c.3070_3088del (p.Leu1024fs)	CR2 (L1024fs +1 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 7	GPathogenic
Select item 2981958	NM_001006658.3(CR2):c.1570+17A>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2977775	NM_001006658.3(CR2):c.2156-16A>G	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2977356	NM_001006658.3(CR2):c.420G>A (p.Pro140=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2970978	NM_001006658.3(CR2):c.2324-18C>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2959549	NM_001006658.3(CR2):c.735-18A>G	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2958784	NM_001006658.3(CR2):c.237T>C (p.Ala79=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2954886	NM_001006658.3(CR2):c.1518T>A (p.Tyr506Ter)	CR2 (Y506*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
Select item 2917279	NM_001006658.3(CR2):c.1102C>T (p.Arg368Ter)	CR2, LOC126805994 (R368*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
Select item 2909992	NM_001006658.3(CR2):c.446-12G>A	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2908494	NM_001006658.3(CR2):c.1403-17C>G	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2903638	NM_001006658.3(CR2):c.120C>T (p.Pro40=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2898467	NM_001006658.3(CR2):c.2664G>T (p.Arg888Ser)	CR2 (R888S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2892061	NM_001006658.3(CR2):c.1653G>T (p.Thr551=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2882429	NM_001006658.3(CR2):c.2019A>G (p.Thr673=)	CR2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2880311	NM_001006658.3(CR2):c.3230T>G (p.Leu1077Ter)	CR2 (L1077* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
Select item 2878322	NM_001006658.3(CR2):c.723C>T (p.Phe241=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2873917	NM_001006658.3(CR2):c.2394A>G (p.Leu798=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2865464	NM_001006658.3(CR2):c.822T>C (p.Ile274=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2850898	NM_001006658.3(CR2):c.96C>T (p.Gly32=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2847519	NM_001006658.3(CR2):c.1571-16C>A	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2845721	NM_001006658.3(CR2):c.817+14C>G	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2845430	NM_001006658.3(CR2):c.1979-19A>G	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2842301	NM_001006658.3(CR2):c.3088+8C>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2841940	NM_001006658.3(CR2):c.2238T>C (p.Asp746=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2831566	NM_001006658.3(CR2):c.933A>G (p.Glu311=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2825052	NM_001006658.3(CR2):c.3113-14G>C	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2811400	NM_001006658.3(CR2):c.2499G>T (p.Gly833=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2808280	NM_001006658.3(CR2):c.1571-11C>A	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2806517	NM_001006658.3(CR2):c.1194A>G (p.Thr398=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2805540	NM_001006658.3(CR2):c.2716+9C>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2802458	NM_001006658.3(CR2):c.1524G>A (p.Glu508=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2799417	NM_001006658.3(CR2):c.446-13TG[5]	CR2	Microsatellite (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2796172	NM_001006658.3(CR2):c.3088+19A>G	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2794486	NM_001006658.3(CR2):c.768T>C (p.Cys256=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2794268	NM_001006658.3(CR2):c.671G>A (p.Gly224Glu)	CR2 (G224E)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2791056	NM_001006658.3(CR2):c.765G>T (p.Arg255=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2786973	NM_001006658.3(CR2):c.2007T>C (p.His669=)	CR2	Single nucleotide variant (synonymous variant +1 more)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2786041	NM_001006658.3(CR2):c.42C>T (p.Val14=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2783859	NM_001006658.3(CR2):c.39C>G (p.Leu13=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2781409	NM_001006658.3(CR2):c.40dup (p.Val14fs)	CR2 (V14fs)	Duplication (frameshift variant)	Immunodeficiency, common variable, 7	GPathogenic
Select item 2777676	NM_001006658.3(CR2):c.1493+15A>G	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2776728	NM_001006658.3(CR2):c.3102T>C (p.Pro1034=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2771798	NM_001006658.3(CR2):c.638C>A (p.Ala213Glu)	CR2 (A213E)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2766123	NM_001006658.3(CR2):c.2175A>G (p.Arg725=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2756144	NM_001006658.3(CR2):c.1458del (p.Phe486fs)	CR2 (F486fs)	Deletion (frameshift variant)	Immunodeficiency, common variable, 7	GPathogenic
Select item 2739736	NM_001006658.3(CR2):c.2487A>G (p.Gly829=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2739563	NM_001006658.3(CR2):c.1402+16T>A	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2738600	NM_001006658.3(CR2):c.890A>G (p.Tyr297Cys)	CR2, LOC126805994 (Y297C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 2737777	NM_001006658.3(CR2):c.2323+3A>G	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7 +1 more	GConflicting classifications of pathogenicity
Select item 2719223	NM_001006658.3(CR2):c.2324-19C>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2715673	NM_001006658.3(CR2):c.125C>T (p.Ala42Val)	CR2 (A42V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2708841	NM_001006658.3(CR2):c.2280T>C (p.Asp760=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2577879	NM_001006658.3(CR2):c.2040del (p.Phe680fs)	CR2 (F680fs)	Deletion (frameshift variant +1 more)	Immunodeficiency, common variable, 7	GLikely pathogenic
Select item 2500016	NM_001006658.3(CR2):c.3112G>A (p.Gly1038Ser)	CR2 (G1038S +1 more)	Single nucleotide variant (missense variant)	Systemic lupus erythematosus, susceptibility to, 9 +1 more	GUncertain significance
Select item 2440535	NM_001006658.3(CR2):c.2997G>T (p.Glu999Asp)	CR2 (E940D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2431698	NM_001006658.3(CR2):c.1015G>T (p.Ala339Ser)	CR2, LOC126805994 (A339S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2431375	NM_001006658.3(CR2):c.1103G>A (p.Arg368Gln)	CR2, LOC126805994 (R368Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2420573	NM_001006658.3(CR2):c.1325G>A (p.Gly442Asp)	CR2 (G442D)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2419620	NM_001006658.3(CR2):c.3209_3211del (p.Ser1070_Gln1071delinsLys)	CR2	Deletion (inframe_indel)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2419619	NM_001006658.3(CR2):c.3207A>G (p.Thr1069=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2419618	NM_001006658.3(CR2):c.3206C>A (p.Thr1069Lys)	CR2 (T1010K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 2416758	NM_001006658.3(CR2):c.2165A>T (p.Gln722Leu)	CR2 (Q663L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2390904	NM_001006658.3(CR2):c.2081A>G (p.Tyr694Cys)	CR2 (Y694C)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 2309533	NM_001006658.3(CR2):c.1352T>A (p.Ile451Lys)	CR2 (I451K)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 2201752	NM_001006658.3(CR2):c.1484G>A (p.Cys495Tyr)	CR2 (C495Y)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2201113	NM_001006658.3(CR2):c.1225+11C>A	LOC126805994, CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2198026	NM_001006658.3(CR2):c.782A>G (p.Gln261Arg)	CR2 (Q261R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 2197764	NM_001006658.3(CR2):c.1558C>T (p.Arg520Cys)	CR2 (R520C)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2190139	NM_001006658.3(CR2):c.370A>G (p.Met124Val)	CR2 (M124V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 2188878	NM_001006658.3(CR2):c.749G>A (p.Gly250Asp)	CR2 (G250D)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2188566	NM_001006658.3(CR2):c.1174C>T (p.Arg392Ter)	CR2, LOC126805994 (R392*)	Single nucleotide variant (nonsense)	Immunodeficiency, common variable, 7	GPathogenic
Select item 2187057	NM_001006658.3(CR2):c.504G>A (p.Glu168=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2186502	NM_001006658.3(CR2):c.1283G>A (p.Arg428His)	CR2 (R428H)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2184617	NM_001006658.3(CR2):c.1844G>T (p.Gly615Val)	CR2 (G615V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2183099	NM_001006658.3(CR2):c.2992C>G (p.Leu998Val)	CR2 (L939V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2180781	NM_001006658.3(CR2):c.3176A>G (p.Lys1059Arg)	CR2 (K1000R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +1 more	GUncertain significance
Select item 2178041	NM_001006658.3(CR2):c.1570+5G>A	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2176151	NM_001006658.3(CR2):c.1056A>G (p.Pro352=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2176010	NM_001006658.3(CR2):c.635-3T>C	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2175237	NM_001006658.3(CR2):c.698G>A (p.Arg233Gln)	CR2 (R233Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2169328	NM_001006658.3(CR2):c.2423del (p.Asp808fs)	CR2 (D808fs +1 more)	Deletion (frameshift variant)	Immunodeficiency, common variable, 7	GPathogenic
Select item 2167770	NM_001006658.3(CR2):c.818-12C>T	CR2, LOC126805994	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2167639	NM_001006658.3(CR2):c.1978+10C>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2160103	NM_001006658.3(CR2):c.909C>T (p.Tyr303=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7 +1 more	GLikely benign
Select item 2160101	NM_001006658.3(CR2):c.1206T>C (p.Ser402=)	LOC126805994, CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2160091	NM_001006658.3(CR2):c.557G>A (p.Gly186Asp)	CR2 (G186D)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2159174	NM_001006658.3(CR2):c.1494-16G>A	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2156840	NM_001006658.3(CR2):c.492T>C (p.His164=)	CR2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2154465	NM_001006658.3(CR2):c.2411C>G (p.Ser804Cys)	CR2 (S804C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7	GUncertain significance
Select item 2153222	NM_001006658.3(CR2):c.1069C>T (p.Leu357=)	CR2, LOC126805994	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 7	GLikely benign
Select item 2146240	NM_001006658.3(CR2):c.1978+20G>T	CR2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 7	GLikely benign

<< First< Prev

Page of 7