ClinVar (all) for Orgtrack (Select 506424) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687509	NM_014795.4(ZEB2):c.477_484del (p.His159fs)	ZEB2 (H135fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687508	NM_014795.4(ZEB2):c.901del (p.Leu301fs)	ZEB2 (L277fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687507	NM_014795.4(ZEB2):c.274G>T (p.Gly92Ter)	ZEB2 (G92*)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 2687506	NM_014795.4(ZEB2):c.2254dup (p.Thr752fs)	ZEB2 (T728fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687505	NM_014795.4(ZEB2):c.696C>G (p.Tyr232Ter)	ZEB2 (Y208* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 2687504	NM_014795.4(ZEB2):c.1578_1579delinsA (p.Asp527fs)	ZEB2 (D503fs +1 more)	Indel (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687503	NM_014795.4(ZEB2):c.715del (p.Glu239fs)	ZEB2 (E215fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687502	NM_014795.4(ZEB2):c.650_653dup (p.Gly219fs)	ZEB2 (G195fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687501	NM_014795.4(ZEB2):c.817del (p.Met272_Leu273insTer)	ZEB2	Deletion (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 2687500	NM_014795.4(ZEB2):c.2682del (p.Leu894fs)	ZEB2 (L870fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687499	NM_014795.4(ZEB2):c.540del (p.Glu181fs)	LOC111721705, ZEB2 (E157fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687498	NM_014795.4(ZEB2):c.1631_1635dup (p.Asp546fs)	ZEB2 (D522fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 2687497	NM_014795.4(ZEB2):c.2180T>A (p.Leu727Ter)	ZEB2 (L703* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 2632784	NM_014795.4(ZEB2):c.3031del (p.Ser1011fs)	ZEB2 (S1011fs +1 more)	Deletion (frameshift variant)	ZEB2-related disorder +1 more	GPathogenic
Select item 2503471	Single allele	ANKRD11, LOC101927817 +23 more	Deletion	KBG syndrome	GLikely pathogenic
Select item 2503470	Single allele	ANKRD11, LOC101927817 +23 more	Deletion	KBG syndrome	GLikely pathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2503466	NM_013275.6(ANKRD11):c.4117A>T (p.Lys1373Ter)	ANKRD11 (K1373*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 2503465	NM_013275.6(ANKRD11):c.3835dup (p.Ser1279fs)	ANKRD11 (S1279fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503464	NM_013275.6(ANKRD11):c.3779C>A (p.Ser1260Ter)	ANKRD11 (S1260*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 2503463	NM_013275.6(ANKRD11):c.3509_3512del (p.Lys1170fs)	ANKRD11 (K1170fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503462	NM_013275.6(ANKRD11):c.3024_3025dup (p.Lys1009fs)	ANKRD11 (K1009fs)	Microsatellite (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503461	NM_013275.6(ANKRD11):c.1583dup (p.Ser528fs)	ANKRD11 (S528fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503460	NM_013275.6(ANKRD11):c.7048C>T (p.Gln2350Ter)	ANKRD11 (Q2350*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 2503459	NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)	ANKRD11 (R2328*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic/Likely pathogenic
Select item 2503458	NM_013275.6(ANKRD11):c.5813_5817del (p.Pro1938fs)	ANKRD11 (P1938fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503457	NM_013275.6(ANKRD11):c.4964_4965del (p.Lys1655fs)	ANKRD11 (K1655fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2503456	NM_013275.6(ANKRD11):c.505G>T (p.Glu169Ter)	ANKRD11 (E169*)	Single nucleotide variant (nonsense +1 more)	KBG syndrome	GPathogenic
Select item 1802548	NM_014795.4(ZEB2):c.2357dup (p.Leu786fs)	ZEB2 (L762fs +1 more)	Duplication (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1802538	NM_014795.4(ZEB2):c.3160C>G (p.Pro1054Ala)	ZEB2 (P1030A +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 1703405	NM_014795.4(ZEB2):c.2718del (p.Ala907fs)	ZEB2 (A883fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome +1 more	GPathogenic
Select item 1687172	NM_014795.4(ZEB2):c.310C>T (p.Gln104Ter)	ZEB2 (Q104*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1679412	NM_013275.6(ANKRD11):c.7470+1G>C	ANKRD11	Single nucleotide variant (splice donor variant)	KBG syndrome	GPathogenic
Select item 1679373	NM_013275.6(ANKRD11):c.3693_3697del (p.Asp1231fs)	ANKRD11 (D1231fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 1679349	NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs)	ANKRD11 (E1263fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic/Likely pathogenic
Select item 1320255	NM_014795.4(ZEB2):c.1052del (p.Gly351fs)	ZEB2 (G327fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1180834	NM_014795.4(ZEB2):c.625C>T (p.Gln209Ter)	ZEB2 (Q185* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the nervous system +1 more	GPathogenic
Select item 1172771	NM_014795.4(ZEB2):c.2717del (p.Pro906fs)	ZEB2 (P882fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 198867	NM_014795.4(ZEB2):c.2701C>T (p.Gln901Ter)	ZEB2 (Q901* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome +1 more	GPathogenic
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

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Items: 42