C1856113[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 572414	NM_014795.4(ZEB2):c.3538C>G (p.Arg1180Gly)	ZEB2 (R1180G +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1029312	NM_014795.4(ZEB2):c.3467G>C (p.Gly1156Ala)	ZEB2 (G1156A +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1029311	NM_014795.4(ZEB2):c.3133C>T (p.His1045Tyr)	ZEB2 (H1021Y +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 1029310	NM_014795.4(ZEB2):c.2944T>C (p.Ser982Pro)	ZEB2 (S982P +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 1029309	NM_014795.4(ZEB2):c.2886+1G>A	ZEB2	Single nucleotide variant (splice donor variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1032636	NM_014795.4(ZEB2):c.2840C>G (p.Ala947Gly)	ZEB2 (A923G +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 561145	NM_014795.4(ZEB2):c.2757del (p.Leu920fs)	ZEB2 (L896fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 181742	NM_014795.4(ZEB2):c.2707G>T (p.Ala903Ser)	ZEB2 (A903S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1027896	NM_014795.4(ZEB2):c.2176T>C (p.Ser726Pro)	ZEB2 (S726P +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
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 189287	NM_014795.4(ZEB2):c.1653del (p.Ser552fs)	ZEB2 (S552fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 1027895	NM_014795.4(ZEB2):c.1112A>T (p.Asn371Ile)	ZEB2 (N371I +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GConflicting classifications of pathogenicity
Select item 2582355	NM_014795.4(ZEB2):c.962_970delinsC (p.His321fs)	ZEB2 (H297fs +1 more)	Indel (frameshift variant)	Mowat-Wilson syndrome	GPathogenic
Select item 3238798	NM_014795.4(ZEB2):c.950_951del (p.Lys317fs)	ZEB2 (K293fs +1 more)	Deletion (frameshift variant)	Mowat-Wilson syndrome	GLikely pathogenic
Select item 985660	NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp)	ZEB2 (G282D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 95638	NM_014795.4(ZEB2):c.643_659del (p.Tyr215fs)	ZEB2 (Y215fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 561146	NM_014795.4(ZEB2):c.502C>T (p.Gln168Ter)	LOC111721705, ZEB2 (Q168* +1 more)	Single nucleotide variant (nonsense)	Mowat-Wilson syndrome	GPathogenic
Select item 838010	NM_014795.4(ZEB2):c.469G>A (p.Asp157Asn)	ZEB2 (D133N +1 more)	Single nucleotide variant (missense variant)	Mowat-Wilson syndrome	GUncertain significance
Select item 975784	NM_014795.4(ZEB2):c.331+1G>T	ZEB2	Single nucleotide variant (splice donor variant)	Mowat-Wilson syndrome	GPathogenic
Select item 196468	NM_014795.4(ZEB2):c.219C>T (p.His73=)	ZEB2	Single nucleotide variant (synonymous variant)	Mowat-Wilson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1032637	NM_014795.4(ZEB2):c.31C>T (p.Arg11Trp)	ZEB2 (R11W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Items: 21