ClinVar for MedGen (Select 98310) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362371	NM_000211.5(ITGB2):c.1888G>T (p.Glu630Ter)	ITGB2 (E561* +1 more)	Single nucleotide variant (nonsense)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 3248149	NC_000021.8:g.(?_46308588)_(46310157_?)del	ITGB2	Deletion	Leukocyte adhesion deficiency 1	GPathogenic
Select item 3234926	NM_000211.5(ITGB2):c.1348C>T (p.Arg450Trp)	ITGB2 (R381W +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 3024023	NM_000211.5(ITGB2):c.1413-4C>G	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 3021185	NM_000211.5(ITGB2):c.2211C>T (p.Arg737=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 3019536	NM_000211.5(ITGB2):c.2247+13C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 3018046	NM_000211.5(ITGB2):c.897+19C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 3015773	NM_000211.5(ITGB2):c.1224+16A>G	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 3015669	NM_000211.5(ITGB2):c.348C>T (p.Asn116=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 3014414	NM_000211.5(ITGB2):c.48C>T (p.Ser16=)	ITGB2	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 3014377	NM_000211.5(ITGB2):c.2248-20_2248-19del	ITGB2	Deletion (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 3009278	NM_000211.5(ITGB2):c.1878-16A>G	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2994929	NM_000211.5(ITGB2):c.2115C>T (p.Val705=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2982971	NM_000211.5(ITGB2):c.1471C>T (p.Gln491Ter)	ITGB2 (Q491* +1 more)	Single nucleotide variant (nonsense)	Leukocyte adhesion deficiency 1	GPathogenic
Select item 2973469	NM_000211.5(ITGB2):c.1902C>T (p.Phe634=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2969489	NM_000211.5(ITGB2):c.2080+17G>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2962980	NM_000211.5(ITGB2):c.534G>A (p.Pro178=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2956224	NM_000211.5(ITGB2):c.329-6C>G	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2918630	NM_000211.5(ITGB2):c.2115C>G (p.Val705=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2918180	NM_000211.5(ITGB2):c.1968C>G (p.Pro656=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2917286	NM_000211.5(ITGB2):c.1878-4G>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2916806	NM_000211.5(ITGB2):c.2040C>T (p.Asp680=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2914639	NM_000211.5(ITGB2):c.1083+11C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2913556	NM_000211.5(ITGB2):c.837G>C (p.Leu279=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2911647	NM_000211.5(ITGB2):c.2080+9G>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2910470	NM_000211.5(ITGB2):c.954del (p.Ile319fs)	ITGB2 (I319fs +1 more)	Deletion (frameshift variant)	Leukocyte adhesion deficiency 1	GPathogenic
Select item 2909997	NM_000211.5(ITGB2):c.1125C>G (p.Pro375=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2901865	NM_000211.5(ITGB2):c.993+20G>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2894987	NM_000211.5(ITGB2):c.549C>T (p.His183=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2890331	NM_000211.5(ITGB2):c.2052C>T (p.Arg684=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2885322	NM_000211.5(ITGB2):c.1401C>T (p.Cys467=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2884208	NM_000211.5(ITGB2):c.328+18G>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2882469	NM_000211.5(ITGB2):c.1084-16C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2874777	NM_000211.5(ITGB2):c.1419C>T (p.Asp473=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2865316	NM_000211.5(ITGB2):c.1800A>G (p.Val600=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2860611	NM_000211.5(ITGB2):c.185del (p.Cys62fs)	ITGB2 (C62fs)	Deletion (frameshift variant +1 more)	Leukocyte adhesion deficiency 1	GPathogenic
Select item 2855691	NM_000211.5(ITGB2):c.328+10G>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2849891	NM_000211.5(ITGB2):c.499+15C>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2849090	NM_000211.5(ITGB2):c.851_854dup (p.Cys286fs)	ITGB2 (C217fs +1 more)	Duplication (frameshift variant)	Leukocyte adhesion deficiency 1	GPathogenic
Select item 2846405	NM_000211.5(ITGB2):c.897+7C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2842266	NM_000211.5(ITGB2):c.2103C>A (p.Ile701=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2837876	NM_000211.5(ITGB2):c.2247+11G>C	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2825893	NM_000211.5(ITGB2):c.433_436del (p.Asn145fs)	ITGB2 (N145fs +1 more)	Deletion (frameshift variant)	Leukocyte adhesion deficiency 1	GPathogenic
Select item 2823611	NM_000211.5(ITGB2):c.321G>A (p.Leu107=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2817302	NM_000211.5(ITGB2):c.263A>G (p.Gln88Arg)	ITGB2 (Q19R +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2810773	NM_000211.5(ITGB2):c.1275del (p.Phe426fs)	ITGB2 (F357fs +1 more)	Deletion (frameshift variant)	Leukocyte adhesion deficiency 1	GPathogenic
Select item 2810600	NM_000211.5(ITGB2):c.1413-18G>C	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2809695	NM_000211.5(ITGB2):c.894A>G (p.Glu298=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2808687	NM_000211.5(ITGB2):c.639C>T (p.Asn213=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2803347	NM_000211.5(ITGB2):c.993+1G>T	ITGB2	Single nucleotide variant (splice donor variant)	Leukocyte adhesion deficiency 1	GLikely pathogenic
Select item 2790592	NM_000211.5(ITGB2):c.1877+20G>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2784165	NM_000211.5(ITGB2):c.1782C>T (p.Gly594=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2780752	NM_000211.5(ITGB2):c.898-8C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2763340	NM_000211.5(ITGB2):c.1221C>T (p.Val407=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2759423	NM_000211.5(ITGB2):c.2247+20G>C	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2756672	NM_000211.5(ITGB2):c.234C>A (p.Ile78=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2754672	NM_000211.5(ITGB2):c.120G>A (p.Gly40=)	ITGB2	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2748361	NM_000211.5(ITGB2):c.867G>A (p.Glu289=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2747837	NM_000211.5(ITGB2):c.500-6C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2731472	NM_000211.5(ITGB2):c.742-16del	ITGB2	Deletion (intron variant)	Leukocyte adhesion deficiency 1	GBenign
Select item 2727641	NM_000211.5(ITGB2):c.329-8A>C	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2717897	NM_000211.5(ITGB2):c.991G>A (p.Glu331Lys)	ITGB2 (E262K +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2711996	NM_000211.5(ITGB2):c.960C>T (p.Phe320=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2585527	NM_000211.5(ITGB2):c.120del (p.Gly42fs)	ITGB2 (G42fs)	Deletion (frameshift variant +1 more)	Leukocyte adhesion deficiency 3 +2 more	GPathogenic/Likely pathogenic
Select item 2422587	NC_000021.8:g.(?_46309171)_(46310157_?)del	ITGB2	Deletion	Leukocyte adhesion deficiency 1	GPathogenic
Select item 2421508	NM_000211.5(ITGB2):c.1248G>A (p.Thr416=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2415194	NM_000211.5(ITGB2):c.92G>A (p.Ser31Asn)	ITGB2 (S31N)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 2414549	NM_000211.5(ITGB2):c.1648G>A (p.Gly550Ser)	ITGB2 (G481S +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2413863	NM_000211.5(ITGB2):c.2277G>A (p.Thr759=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2413479	NM_000211.5(ITGB2):c.1651G>A (p.Gly551Ser)	ITGB2 (G482S +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2202590	NM_000211.5(ITGB2):c.1608T>C (p.Cys536=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2198147	NM_000211.5(ITGB2):c.1790G>A (p.Arg597His)	ITGB2 (R597H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2198144	NM_000211.5(ITGB2):c.1619A>G (p.Asn540Ser)	ITGB2 (N540S +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2195702	NM_000211.5(ITGB2):c.59-16C>T	ITGB2	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency 1	GBenign
Select item 2194760	NM_000211.5(ITGB2):c.2190C>T (p.Ser730=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2194060	NM_000211.5(ITGB2):c.1434G>A (p.Gly478=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2187448	NM_000211.5(ITGB2):c.2198G>A (p.Arg733Gln)	ITGB2 (R733Q +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2180857	NM_000211.5(ITGB2):c.1666C>T (p.Leu556Phe)	ITGB2 (L487F +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2177995	NM_000211.5(ITGB2):c.1281C>T (p.Val427=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2177026	NM_000211.5(ITGB2):c.1815A>G (p.Ser605=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2175780	NM_000211.5(ITGB2):c.742-16C>A	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2174858	NM_000211.5(ITGB2):c.780G>C (p.Val260=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2174767	NM_000211.5(ITGB2):c.1315G>A (p.Val439Met)	ITGB2 (V370M +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2171398	NM_000211.5(ITGB2):c.2029G>A (p.Glu677Lys)	ITGB2 (E677K +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2169052	NM_000211.5(ITGB2):c.1130_1131delinsTT (p.Thr377Ile)	ITGB2 (T377I +1 more)	Indel (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2168238	NM_000211.5(ITGB2):c.1392C>G (p.Phe464Leu)	ITGB2 (F395L +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2165191	NM_000211.5(ITGB2):c.741+15C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2161910	NM_000211.5(ITGB2):c.2285T>G (p.Met762Arg)	ITGB2 (M762R +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2161483	NM_000211.5(ITGB2):c.1912C>T (p.Pro638Ser)	ITGB2 (P569S +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2161011	NM_000211.5(ITGB2):c.151T>A (p.Phe51Ile)	ITGB2 (F51I)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2158724	NM_000211.5(ITGB2):c.1412+13C>G	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2157485	NM_000211.5(ITGB2):c.1878-10C>T	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2156726	NM_000211.5(ITGB2):c.1798G>A (p.Val600Ile)	ITGB2 (V531I +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2156009	NM_000211.5(ITGB2):c.355T>G (p.Phe119Val)	ITGB2 (F119V +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2155577	NM_000211.5(ITGB2):c.741+13C>G	ITGB2	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2155019	NM_000211.5(ITGB2):c.1290G>A (p.Ala430=)	ITGB2	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2153365	NM_000211.5(ITGB2):c.51C>A (p.Leu17=)	ITGB2	Single nucleotide variant (synonymous variant +1 more)	Leukocyte adhesion deficiency 1	GLikely benign
Select item 2142102	NM_000211.5(ITGB2):c.1367G>A (p.Arg456His)	ITGB2 (R456H +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency 1	GUncertain significance
Select item 2140645	NM_000211.5(ITGB2):c.1159A>C (p.Ser387Arg)	ITGB2 (S387R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2139458	NM_000211.5(ITGB2):c.193C>T (p.Arg65Trp)	ITGB2 (R65W)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 1	GUncertain significance

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