C1856113[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95636	NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 160325	NM_014795.4(ZEB2):c.3444C>T (p.Tyr1148=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 160324	NM_014795.4(ZEB2):c.3141G>C (p.Arg1047Ser)	ZEB2 (R1047S +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 212636	NM_014795.4(ZEB2):c.3137C>A (p.Ser1046Ter)	ZEB2 (S1046* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 437324	NM_014795.4(ZEB2):c.3109A>T (p.Lys1037Ter)	ZEB2 (K1037* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 95633	NM_014795.4(ZEB2):c.3067+6A>T	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome +2 more	GBenign/Likely benign
Select item 137954	NM_014795.4(ZEB2):c.2973C>T (p.Ile991=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 212635	NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter)	ZEB2 (L965* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 160323	NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)	ZEB2 (R921* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome +4 more	GPathogenic
Select item 1336911	NM_014795.4(ZEB2):c.2714C>T (p.Pro905Leu)	ZEB2 (P881L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 160322	NM_014795.4(ZEB2):c.2501del (p.Lys834fs)	ZEB2 (K810fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 437325	NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala)	ZEB2 (T833A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 212634	NM_014795.4(ZEB2):c.2404_2407del (p.Thr802fs)	ZEB2 (T778fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 181739	NM_014795.4(ZEB2):c.2365T>C (p.Ser789Pro)	ZEB2 (S789P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137950	NM_014795.4(ZEB2):c.2361T>C (p.Asn787=)	ZEB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 160321	NM_014795.4(ZEB2):c.2352T>C (p.Ser784=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 160320	NM_014795.4(ZEB2):c.2329C>T (p.His777Tyr)	ZEB2 (H777Y +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 95630	NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val)	ZEB2 (I744V +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +4 more	GBenign/Likely benign
Select item 95629	NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser)	ZEB2 (P735S +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +2 more	GBenign
Select item 437326	NM_014795.4(ZEB2):c.2162C>T (p.Pro721Leu)	ZEB2 (P721L +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GUncertain significance
Select item 137948	NM_014795.4(ZEB2):c.2142G>A (p.Pro714=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 95627	NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)	ZEB2 (P714L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 181737	NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln)	ZEB2 (R695Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 4755	NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)	ZEB2 (R695* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 437332	NM_014795.4(ZEB2):c.2072G>A (p.Trp691Ter)	ZEB2 (W691* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 212633	NM_014795.4(ZEB2):c.2061del (p.Phe687fs)	ZEB2 (F663fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 589324	NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter)	ZEB2 (Y652* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 1153341	NM_014795.4(ZEB2):c.1875C>T (p.Ala625=)	ZEB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 181735	NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala)	ZEB2 (T579A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 181712	NM_014795.4(ZEB2):c.1638C>T (p.Asp546=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 160318	NM_014795.4(ZEB2):c.1542G>A (p.Pro514=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 437333	NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter)	ZEB2 (Q497* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 95622	NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)	ZEB2 (P494S +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +4 more	GBenign/Likely benign
Select item 160317	NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser)	ZEB2 (A480S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 4757	NM_014795.4(ZEB2):c.1426dup (p.Met476fs)	ZEB2 (M476fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 95621	NM_014795.4(ZEB2):c.1410T>A (p.Thr470=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 181711	NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile)	ZEB2 (L426I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 95618	NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)	ZEB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 212632	NM_014795.4(ZEB2):c.1106T>A (p.Leu369Ter)	ZEB2 (L369* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 189281	NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter)	ZEB2 (R343* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome +2 more	GPathogenic
Select item 95643	NM_014795.4(ZEB2):c.930C>T (p.Tyr310=)	ZEB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 160329	NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)	ZEB2 (R302* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 160328	NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter)	ZEB2 (Q275* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 212638	NM_014795.4(ZEB2):c.808-4A>G	ZEB2	Single nucleotide variant (intron variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 137944	NM_014795.4(ZEB2):c.798G>C (p.Gly266=)	ZEB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 160327	NM_014795.4(ZEB2):c.747G>A (p.Thr249=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 413312	NM_014795.4(ZEB2):c.702C>T (p.His234=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +3 more	GBenign/Likely benign
Select item 212637	NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter)	ZEB2 (S225* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 160326	NM_014795.4(ZEB2):c.550_568del (p.Ser184fs)	LOC111721705, ZEB2 (S160fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1128115	NM_014795.4(ZEB2):c.507C>T (p.Arg169=)	LOC111721705, ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +1 more	GLikely benign
Select item 95637	NM_014795.4(ZEB2):c.489C>T (p.Ile163=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 437330	NM_014795.4(ZEB2):c.466C>T (p.Arg156Cys)	ZEB2 (R156C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 137942	NM_014795.4(ZEB2):c.462G>A (p.Glu154=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +3 more	GBenign/Likely benign
Select item 181725	NM_014795.4(ZEB2):c.332-6C>T	ZEB2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 437322	NM_014795.4(ZEB2):c.309A>G (p.Leu103=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 381140	NM_014795.4(ZEB2):c.225C>T (p.Ser75=)	ZEB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 437331	NM_014795.4(ZEB2):c.220G>A (p.Val74Met)	ZEB2 (V74M)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 160332	NM_014795.4(ZEB2):c.9G>C (p.Gln3His)	ZEB2 (Q3H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 160331	NM_014795.4(ZEB2):c.9G>A (p.Gln3=)	ZEB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 59