ClinVar for MedGen (Select 335314) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 509

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954375	NM_000377.3(WAS):c.466del (p.Arg156fs)	WAS (R156fs)	Deletion (frameshift variant)	X-linked severe congenital neutropenia +2 more	GPathogenic
Select item 2954222	NM_000377.3(WAS):c.273+11C>A	WAS	Single nucleotide variant (intron variant)	X-linked severe congenital neutropenia +2 more	GLikely benign
Select item 2953625	NM_000377.3(WAS):c.690G>A (p.Lys230=)	WAS	Single nucleotide variant (synonymous variant)	X-linked severe congenital neutropenia +2 more	GLikely benign
Select item 2953371	NM_000377.3(WAS):c.530T>G (p.Leu177Arg)	WAS (L177R)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2952912	NM_000377.3(WAS):c.1263T>A (p.Pro421=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2952905	NM_000377.3(WAS):c.189C>T (p.His63=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2952826	NM_000377.3(WAS):c.1453+12C>T	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2952782	NM_000377.3(WAS):c.810G>T (p.Leu270=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2952743	NM_000377.3(WAS):c.273+8_273+9insA	WAS	Insertion (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2952561	NM_000377.3(WAS):c.348C>G (p.Thr116=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2952496	NM_000377.3(WAS):c.1509A>G (p.Ter503Trp)	WAS	Single nucleotide variant (stop lost)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2952107	NM_000377.3(WAS):c.243G>A (p.Lys81=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2951970	NM_000377.3(WAS):c.438A>G (p.Gln146=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2951650	NM_000377.3(WAS):c.931+14T>C	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2951382	NM_000377.3(WAS):c.1454-12C>T	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2951002	NM_000377.3(WAS):c.1453+20G>C	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2950672	NM_000377.3(WAS):c.133-5C>T	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2950185	NM_000377.3(WAS):c.82C>T (p.Gln28Ter)	WAS (Q28*)	Single nucleotide variant (nonsense)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 2949832	NM_000377.3(WAS):c.969del (p.Asn324fs)	WAS (N324fs)	Deletion (frameshift variant)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 2949280	NM_000377.3(WAS):c.819G>C (p.Arg273Ser)	WAS (R273S)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2948955	NM_000377.3(WAS):c.463+1G>A	WAS	Single nucleotide variant (splice donor variant)	Thrombocytopenia 1 +2 more	GLikely pathogenic
Select item 2948778	NM_000377.3(WAS):c.194C>A (p.Thr65Asn)	WAS (T65N)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2948627	NM_000377.3(WAS):c.744C>T (p.Ser248=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2948625	NM_000377.3(WAS):c.932-15A>G	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2948462	NM_000377.3(WAS):c.734+3G>A	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2947850	NM_000377.3(WAS):c.559+4C>T	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GBenign
Select item 2947270	NM_000377.3(WAS):c.547G>A (p.Gly183Arg)	WAS (G183R)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2947068	NM_000377.3(WAS):c.658C>T (p.Pro220Ser)	WAS (P220S)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2946879	NM_000377.3(WAS):c.638G>A (p.Arg213His)	WAS (R213H)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GBenign
Select item 2946728	NM_000377.3(WAS):c.222C>T (p.Phe74=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2945709	NM_000377.3(WAS):c.618C>T (p.Asp206=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GBenign
Select item 2945639	NM_000377.3(WAS):c.559+6_559+13dup	WAS	Duplication (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2945636	NM_000377.3(WAS):c.932-12C>A	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2945625	NM_000377.3(WAS):c.1366C>T (p.Leu456=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2945495	NM_000377.3(WAS):c.777+12del	WAS	Deletion (intron variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2944792	NM_000377.3(WAS):c.62A>T (p.Asn21Ile)	WAS (N21I)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 2944728	NM_000377.3(WAS):c.273G>A (p.Gln91=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 2944661	NM_000377.3(WAS):c.1135G>A (p.Gly379Arg)	WAS (G379R)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 2944310	NM_000377.3(WAS):c.777+4A>C	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 2944256	NM_000377.3(WAS):c.1179_1187dup (p.Pro404_Ser405insProProPro)	WAS	Duplication (inframe_insertion)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 2943480	NM_000377.3(WAS):c.133-19C>T	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2943368	NM_000377.3(WAS):c.1056C>T (p.Pro352=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2943207	NM_000377.3(WAS):c.274-20C>A	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2942508	NM_000377.3(WAS):c.1494T>C (p.Asp498=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2942263	NM_000377.3(WAS):c.1053A>C (p.Pro351=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2941778	NM_000377.3(WAS):c.795A>C (p.Pro265=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2941559	NM_000377.3(WAS):c.1032T>G (p.Pro344=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2941203	NM_000377.3(WAS):c.225G>A (p.Val75=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2941145	NM_000377.3(WAS):c.642G>C (p.Gly214=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2940799	NM_000377.3(WAS):c.1134T>G (p.Ser378=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2940458	NM_000377.3(WAS):c.273+11C>T	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2940244	NM_000377.3(WAS):c.427_429del (p.Glu143del)	WAS (E143del)	Deletion (inframe_deletion)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2940066	NM_000377.3(WAS):c.834G>A (p.Glu278=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2940030	NM_000377.3(WAS):c.505+20T>C	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2939996	NM_000377.3(WAS):c.1320G>A (p.Gln440=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2938981	NM_000377.3(WAS):c.778-14T>C	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2938145	NM_000377.3(WAS):c.846C>T (p.Thr282=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2937858	NM_000377.3(WAS):c.512G>A (p.Arg171Lys)	WAS (R171K)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 2937637	NM_000377.3(WAS):c.996G>C (p.Val332=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2937545	NM_000377.3(WAS):c.405G>A (p.Gln135=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2937111	NM_000377.3(WAS):c.778-8C>T	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2936895	NM_000377.3(WAS):c.133-15G>A	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2936877	NM_000377.3(WAS):c.540T>C (p.His180=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2936507	NM_000377.3(WAS):c.1086A>C (p.Pro362=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2935979	NM_000377.3(WAS):c.606C>A (p.Ile202=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GBenign
Select item 2935869	NM_000377.3(WAS):c.777+11T>A	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2935467	NM_000377.3(WAS):c.706G>A (p.Ala236Thr)	WAS (A236T)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2934998	NM_000377.3(WAS):c.1038T>G (p.Pro346=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2934849	NM_000377.3(WAS):c.1026G>A (p.Leu342=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2934801	NM_000377.3(WAS):c.273+11del	WAS	Deletion (intron variant)	Wiskott-Aldrich syndrome +2 more	GBenign
Select item 2934663	NM_000377.3(WAS):c.932-12C>T	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2934579	NM_000377.3(WAS):c.1454-12C>A	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2934383	NM_000377.3(WAS):c.273+14C>G	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2934381	NM_000377.3(WAS):c.1107A>G (p.Pro369=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2933705	NM_000377.3(WAS):c.1128A>G (p.Gly376=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2933702	NM_000377.3(WAS):c.1471G>A (p.Ala491Thr)	WAS (A491T)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2933613	NM_000377.3(WAS):c.1140A>C (p.Pro380=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2933608	NM_000377.3(WAS):c.168G>A (p.Ala56=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2933589	NM_000377.3(WAS):c.360+13C>T	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2933449	NM_000377.3(WAS):c.1092A>C (p.Arg364=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2933430	NM_000377.3(WAS):c.273+17C>T	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2933424	NM_000377.3(WAS):c.1039T>C (p.Leu347=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2932926	NM_000377.3(WAS):c.931+7C>A	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2932742	NM_000377.3(WAS):c.734+1G>C	WAS	Single nucleotide variant (splice donor variant)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 2932708	NM_000377.3(WAS):c.1068C>T (p.Pro356=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2932635	NM_000377.3(WAS):c.663C>T (p.Ser221=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2932422	NM_000377.3(WAS):c.273+11C>G	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2932295	NM_000377.3(WAS):c.1454-5T>C	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2932187	NM_000377.3(WAS):c.1125T>A (p.Thr375=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2932174	NM_000377.3(WAS):c.204T>C (p.His68=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2931257	NM_000377.3(WAS):c.519G>T (p.Gly173=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2931224	NM_000377.3(WAS):c.576G>A (p.Pro192=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GBenign
Select item 2930760	NM_000377.3(WAS):c.1104A>C (p.Pro368=)	WAS	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2930695	NM_000377.3(WAS):c.273+9C>T	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2930606	NM_000377.3(WAS):c.675G>A (p.Lys225=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2930605	NM_000377.3(WAS):c.396C>T (p.Asp132=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2930603	NM_000377.3(WAS):c.28C>T (p.Pro10Ser)	WAS (P10S)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 2930470	NM_000377.3(WAS):c.1101T>C (p.Pro367=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2930447	NM_000377.3(WAS):c.1107A>C (p.Pro369=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 2930297	NM_000377.3(WAS):c.1338+9A>C	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign

<< First< Prev

Page of 6