ClinVar for Gene (Select 7454) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 901

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4491246	NM_000377.3(WAS):c.1454-7C>A	WAS	Single nucleotide variant (3 prime UTR variant +1 more)	Not Specified
Select item 4491244	NM_000377.3(WAS):c.1359C>G (p.Ser453Arg)	WAS (S401R +1 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491243	NM_000377.3(WAS):c.1338G>T (p.Lys446Asn)	WAS (K394N +1 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491242	NM_000377.3(WAS):c.1337A>T (p.Lys446Met)	WAS (K394M +1 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491241	NM_000377.3(WAS):c.1330C>G (p.Leu444Val)	WAS (L392V +1 more)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491240	NM_000377.3(WAS):c.1012C>G (p.Arg338Gly)	WAS (R338G)	Single nucleotide variant (missense variant +1 more)	Not Specified
Select item 4491239	NM_000377.3(WAS):c.932A>T (p.Glu311Val)	WAS (E311V)	Single nucleotide variant (missense variant +1 more)	Not Specified
Select item 4491238	NM_000377.3(WAS):c.932-1G>C	WAS	Single nucleotide variant (splice acceptor variant +1 more)	Not Specified
Select item 4491237	NM_000377.3(WAS):c.882T>A (p.Ile294=)	WAS	Single nucleotide variant (synonymous variant)	Not Specified
Select item 4491236	NM_000377.3(WAS):c.777+6T>C	WAS	Single nucleotide variant (intron variant)	Not Specified
Select item 4491234	NM_000377.3(WAS):c.734+172A>G	WAS	Single nucleotide variant (intron variant)	Not Specified
Select item 4491233	NM_000377.3(WAS):c.733A>G (p.Lys245Glu)	WAS (K245E)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491232	NM_000377.3(WAS):c.637C>G (p.Arg213Gly)	WAS (R213G)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491231	NM_000377.3(WAS):c.566C>A (p.Pro189Gln)	WAS (P189Q)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491230	NM_000377.3(WAS):c.560G>T (p.Gly187Val)	WAS (G187V)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491229	NM_000377.3(WAS):c.559+2T>C	WAS	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4491228	NM_000377.3(WAS):c.559+2T>A	WAS	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4491227	NM_000377.3(WAS):c.559G>T (p.Gly187Cys)	WAS (G187C)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491225	NM_000377.3(WAS):c.506-2A>C	WAS	Single nucleotide variant (splice acceptor variant)	Not Specified
Select item 4491224	NM_000377.3(WAS):c.505+2T>C	WAS	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4491223	NM_000377.3(WAS):c.463+2T>C	WAS	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4491222	NM_000377.3(WAS):c.463+2T>A	WAS	Single nucleotide variant (splice donor variant)	Not Specified
Select item 4491221	NM_000377.3(WAS):c.389A>G (p.Asp130Gly)	WAS (D130G)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491220	NM_000377.3(WAS):c.356G>T (p.Gly119Val)	WAS (G119V)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491219	NM_000377.3(WAS):c.134C>A (p.Thr45Lys)	WAS (T45K)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491218	NM_000377.3(WAS):c.129C>G (p.Cys43Trp)	WAS (C43W)	Single nucleotide variant (missense variant)	Not Specified
Select item 4491217	NM_000377.3(WAS):c.8G>A (p.Gly3Glu)	WAS (G3E)	Single nucleotide variant (missense variant)	Not Specified
Select item 4291896	NM_000377.3(WAS):c.995dup (p.Gly334_Asn335insTer)	WAS	Duplication (frameshift variant +1 more)	WAS-related disorder	GPathogenic
Select item 4281334	NM_000377.3(WAS):c.360+2_360+24del	WAS	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 4279068	NM_000377.3(WAS):c.245C>T (p.Ser82Phe)	WAS (S82F)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome	GPathogenic
Select item 4277836	NM_000377.3(WAS):c.560-3_560-2del	WAS	Microsatellite (splice acceptor variant)	Wiskott-Aldrich syndrome	GLikely pathogenic
Select item 4200083	NM_000377.3(WAS):c.1153C>G (p.Pro385Ala)	WAS (P333A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4086109	NM_000377.3(WAS):c.238del (p.Gln80fs)	WAS (Q80fs)	Deletion (frameshift variant)	Wiskott-Aldrich syndrome	GLikely pathogenic
Select item 4081004	NM_000377.3(WAS):c.133-38C>A	WAS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 4071514	NM_000377.3(WAS):c.107_109delinsC (p.Phe36fs)	WAS (F36fs)	Indel (frameshift variant)	Wiskott-Aldrich syndrome	GLikely pathogenic
Select item 3980549	NM_000377.3(WAS):c.947C>T (p.Pro316Leu)	WAS (P316L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3980548	NM_000377.3(WAS):c.1384A>G (p.Ser462Gly)	WAS (S462G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3815652	NM_000377.3(WAS):c.695A>G (p.Lys232Arg)	WAS (K232R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3765840	NM_000377.3(WAS):c.463+35C>G	WAS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 3468955	NM_000377.3(WAS):c.203A>G (p.His68Arg)	WAS (H68R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3468954	NM_000377.3(WAS):c.526C>T (p.Pro176Ser)	WAS (P176S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3391948	GRCh37/hg19 Xp22.2-11.23(chrX:15392463-48777470)x1	ACE2, ACOT9 +162 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 10