ClinVar for MedGen (Select 21921) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3895723	NM_000377.3(WAS):c.343C>T (p.His115Tyr)	WAS (H115Y)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome	GLikely pathogenic
Select item 3895697	NM_000377.3(WAS):c.331A>C (p.Thr111Pro)	WAS (T111P)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome	GLikely pathogenic
Select item 3769317	NM_000377.3(WAS):c.330dup (p.Thr111fs)	WAS (T111fs)	Duplication (frameshift variant)	Wiskott-Aldrich syndrome	GPathogenic
Select item 3767126	NM_000377.3(WAS):c.931+1G>A	WAS	Single nucleotide variant (splice donor variant)	Wiskott-Aldrich syndrome +2 more	GPathogenic
Select item 3767098	NM_000377.3(WAS):c.1020_1047del (p.Leu342fs)	WAS (L342fs)	Deletion (frameshift variant)	Wiskott-Aldrich syndrome +2 more	GPathogenic
Select item 3763974	NM_000377.3(WAS):c.932-11C>A	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 3763713	NM_000377.3(WAS):c.273+17C>A	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 3763662	NM_000377.3(WAS):c.1490A>G (p.Asp497Gly)	WAS (D497G)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 3763015	NM_000377.3(WAS):c.335C>A (p.Pro112His)	WAS (P112H)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3762991	NM_000377.3(WAS):c.421G>A (p.Val141Met)	WAS (V141M)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3762614	NM_000377.3(WAS):c.1285G>C (p.Gly429Arg)	WAS (G429R)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 3762370	NM_000377.3(WAS):c.593C>G (p.Ala198Gly)	WAS (A198G)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3762077	NM_000377.3(WAS):c.274-11C>T	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 3762021	NM_000377.3(WAS):c.352G>A (p.Ala118Thr)	WAS (A118T)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 3761741	NM_000377.3(WAS):c.541C>T (p.Pro181Ser)	WAS (P181S)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3761359	NM_000377.3(WAS):c.750G>A (p.Val250=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 3760540	NM_000377.3(WAS):c.1219G>C (p.Gly407Arg)	WAS (G407R)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3760334	NM_000377.3(WAS):c.1339-16T>C	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 3759642	NM_000377.3(WAS):c.1390G>T (p.Glu464Ter)	WAS (E464*)	Single nucleotide variant (nonsense)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 3759641	NM_000377.3(WAS):c.1289del (p.Gly430fs)	WAS (G430fs)	Deletion (frameshift variant)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 3759640	NM_000377.3(WAS):c.1289dup (p.Arg431fs)	WAS (R431fs)	Duplication (frameshift variant)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 3759639	NM_000377.3(WAS):c.777+5G>A	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3759371	NM_000377.3(WAS):c.1271_1317del (p.Gly424fs)	WAS (G424fs)	Deletion (frameshift variant)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 3758879	NM_000377.3(WAS):c.879_882del (p.Phe293fs)	WAS (F293fs)	Deletion (frameshift variant)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 3758858	NM_000377.3(WAS):c.105_106del (p.Leu35_Phe36insTer)	WAS	Microsatellite (frameshift variant)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 3758459	NM_000377.3(WAS):c.1190C>T (p.Pro397Leu)	WAS (P397L)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3758285	NM_000377.3(WAS):c.255C>T (p.Ile85=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 3758261	NM_000377.3(WAS):c.1343C>T (p.Pro448Leu)	WAS (P448L)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3758258	NM_000377.3(WAS):c.1260G>A (p.Val420=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 3757985	NM_000377.3(WAS):c.1386C>G (p.Ser462Arg)	WAS (S462R)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3757984	NM_000377.3(WAS):c.436C>A (p.Gln146Lys)	WAS (Q146K)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3757983	NM_000377.3(WAS):c.209G>T (p.Gly70Val)	WAS (G70V)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GLikely pathogenic
Select item 3757808	NM_000377.3(WAS):c.1347G>A (p.Gly449=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 3756144	NM_000377.3(WAS):c.1041G>A (p.Leu347=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 3756094	NM_000377.3(WAS):c.506-1G>C	WAS	Single nucleotide variant (splice acceptor variant)	Thrombocytopenia 1 +2 more	GLikely pathogenic
Select item 3755900	NM_000377.3(WAS):c.456A>C (p.Gln152His)	WAS (Q152H)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3755169	NM_000377.3(WAS):c.1091G>A (p.Arg364Gln)	WAS (R364Q)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3753434	NM_000377.3(WAS):c.1106C>T (p.Pro369Leu)	WAS (P369L)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3753352	NM_000377.3(WAS):c.420C>A (p.Leu140=)	WAS	Single nucleotide variant (synonymous variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 3752703	NM_000377.3(WAS):c.1189C>G (p.Pro397Ala)	WAS (P397A)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3752123	NM_000377.3(WAS):c.932-10C>T	WAS	Single nucleotide variant (intron variant)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 3751145	NM_000377.3(WAS):c.610A>T (p.Asn204Tyr)	WAS (N204Y)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 3750932	NM_000377.3(WAS):c.274G>A (p.Ala92Thr)	WAS (A92T)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 3749944	NM_000377.3(WAS):c.953C>T (p.Pro318Leu)	WAS (P318L)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 3749653	NM_000377.3(WAS):c.931+1G>C	WAS	Single nucleotide variant (splice donor variant)	Wiskott-Aldrich syndrome +2 more	GPathogenic
Select item 3749652	NM_000377.3(WAS):c.454C>T (p.Gln152Ter)	WAS (Q152*)	Single nucleotide variant (nonsense)	Wiskott-Aldrich syndrome +2 more	GPathogenic
Select item 3749169	NM_000377.3(WAS):c.132+6C>T	WAS	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 3748445	NM_000377.3(WAS):c.1075C>A (p.Pro359Thr)	WAS (P359T)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 3748381	NM_000377.3(WAS):c.1377A>G (p.Pro459=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +2 more	GLikely benign
Select item 3598343	NM_000377.3(WAS):c.1356G>T (p.Glu452Asp)	WAS (E452D)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 3598341	NM_000377.3(WAS):c.1082C>A (p.Pro361His)	WAS (P361H)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 3598340	NM_000377.3(WAS):c.1061C>A (p.Pro354Gln)	WAS (P354Q)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 3598339	NM_000377.3(WAS):c.913C>T (p.Gln305Ter)	WAS (Q305*)	Single nucleotide variant (nonsense)	Wiskott-Aldrich syndrome +2 more	GPathogenic
Select item 3598338	NM_000377.3(WAS):c.691A>T (p.Lys231Ter)	WAS (K231*)	Single nucleotide variant (nonsense)	Wiskott-Aldrich syndrome +2 more	GPathogenic
Select item 3598336	NM_000377.3(WAS):c.542C>T (p.Pro181Leu)	WAS (P181L)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 3598335	NM_000377.3(WAS):c.122G>A (p.Arg41Gln)	WAS (R41Q)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 3598334	NM_000377.3(WAS):c.96C>G (p.Asn32Lys)	WAS (N32K)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GUncertain significance
Select item 3468956	NM_000377.3(WAS):c.998G>C (p.Gly333Ala)	WAS (G333A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3382488	NM_000377.3(WAS):c.629C>G (p.Ser210Ter)	WAS (S210*)	Single nucleotide variant (nonsense)	Thrombocytopenia 1 +2 more	GPathogenic
Select item 3367090	NM_000377.3(WAS):c.680G>A (p.Arg227His)	WAS (R227H)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome	GUncertain significance
Select item 3251385	NM_000377.3(WAS):c.984del (p.Pro330fs)	WAS (P330fs)	Deletion (frameshift variant)	Wiskott-Aldrich syndrome	GPathogenic
Select item 3189514	NM_000377.3(WAS):c.886G>A (p.Asp296Asn)	WAS (D296N)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +3 more	GLikely benign
Select item 3063649	NM_000377.3(WAS):c.1259T>C (p.Val420Ala)	WAS (V420A)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +3 more	GUncertain significance
Select item 3041901	NM_000377.3(WAS):c.1453+1G>A	WAS	Single nucleotide variant (splice donor variant)	Thrombocytopenia 1 +2 more	GPathogenic
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)	X-linked severe congenital neutropenia +2 more	GUncertain significance
Select item 2952912	NM_000377.3(WAS):c.1263T>A (p.Pro421=)	WAS	Single nucleotide variant (synonymous variant)	X-linked severe congenital neutropenia +2 more	GLikely benign
Select item 2952905	NM_000377.3(WAS):c.189C>T (p.His63=)	WAS	Single nucleotide variant (synonymous variant)	X-linked severe congenital neutropenia +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)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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)	Thrombocytopenia 1 +2 more	GLikely benign
Select item 2944792	NM_000377.3(WAS):c.62A>T (p.Asn21Ile)	WAS (N21I)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +2 more	GUncertain significance

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