"PreventionGenetics, part of Exact Sciences"[submitter] AND "ZIC3"[gen - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190129	NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)	ZIC3 (G17C)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 3047546	NM_003413.4(ZIC3):c.135CGC[12] (p.Ala55_Phe56insAlaAlaAla)	ZIC3	Microsatellite (inframe insertion)	ZIC3-related condition	GLikely benign
Select item 411872	NM_003413.4(ZIC3):c.135CGC[11] (p.Ala54_Ala55dup)	ZIC3	Microsatellite (inframe_insertion)	ZIC3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 259047	NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)	ZIC3	Microsatellite (inframe_insertion)	ZIC3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 573248	NM_003413.4(ZIC3):c.135CGC[8] (p.Ala55del)	ZIC3 (A55del)	Microsatellite (inframe_deletion)	Heterotaxy, visceral, 1, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 464970	NM_003413.4(ZIC3):c.135CGC[6] (p.Ala53_Ala55del)	ZIC3	Microsatellite (inframe_deletion)	ZIC3-related condition +1 more	GBenign/Likely benign
Select item 137958	NM_003413.4(ZIC3):c.162T>C (p.Ala54=)	ZIC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1101301	NM_003413.4(ZIC3):c.426C>T (p.Gly142=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked +1 more	GLikely benign
Select item 2634354	NM_003413.4(ZIC3):c.469C>A (p.Pro157Thr)	ZIC3 (P157T)	Single nucleotide variant (missense variant)	ZIC3-related condition	GUncertain significance
Select item 3038703	NM_003413.4(ZIC3):c.576G>C (p.Leu192=)	ZIC3	Single nucleotide variant (synonymous variant)	ZIC3-related condition	GLikely benign
Select item 913335	NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr)	ZIC3 (A203T)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign/Likely benign
Select item 2631598	NM_003413.4(ZIC3):c.627dup (p.Tyr210fs)	ZIC3 (Y210fs)	Duplication (frameshift variant)	ZIC3-related condition	GLikely pathogenic
Select item 259048	NM_003413.4(ZIC3):c.630C>T (p.Tyr210=)	ZIC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2630782	NM_003413.4(ZIC3):c.653A>G (p.Asn218Ser)	ZIC3 (N218S)	Single nucleotide variant (missense variant)	ZIC3-related condition	GUncertain significance
Select item 259049	NM_003413.4(ZIC3):c.783G>A (p.Leu261=)	ZIC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2630826	NM_003413.4(ZIC3):c.845T>G (p.Val282Gly)	ZIC3 (V282G)	Single nucleotide variant (missense variant)	ZIC3-related condition	GUncertain significance
Select item 137959	NM_003413.4(ZIC3):c.861G>A (p.Val287=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked +1 more	GBenign
Select item 239539	NM_003413.4(ZIC3):c.912G>A (p.Arg304=)	ZIC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3053145	NM_003413.4(ZIC3):c.1060+9A>G	ZIC3	Single nucleotide variant (intron variant)	ZIC3-related condition	GLikely benign
Select item 533553	NM_003413.4(ZIC3):c.1248T>G (p.Asp416Glu)	ZIC3 (D416E)	Single nucleotide variant (missense variant +1 more)	Heterotaxy, visceral, 1, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 2631008	NM_001330661.1(ZIC3):c.1232C>A (p.Pro411His)	ZIC3 (P411H)	Single nucleotide variant (missense variant)	ZIC3-related condition	GUncertain significance

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Items: 21