"Illumina Laboratory Services, Illumina"[submitter] AND "ZIC3"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367952	NM_003413.4(ZIC3):c.-479C>T	ZIC3	Single nucleotide variant (5 prime UTR variant)	Congenital heart defects 1, nonsyndromic, 1 +2 more	GUncertain significance
Select item 912970	NM_003413.4(ZIC3):c.-424C>A	ZIC3	Single nucleotide variant (5 prime UTR variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 912971	NM_003413.4(ZIC3):c.-335C>T	ZIC3	Single nucleotide variant (5 prime UTR variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 912972	NM_003413.4(ZIC3):c.-169A>C	ZIC3	Single nucleotide variant (5 prime UTR variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 190129	NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)	ZIC3 (G17C)	Single nucleotide variant (missense variant)	Congenital heart defects 1, nonsyndromic, 1 +4 more	GBenign/Likely benign
Select item 913334	NM_003413.4(ZIC3):c.116C>T (p.Pro39Leu)	ZIC3 (P39L)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 367953	NM_003413.4(ZIC3):c.131C>G (p.Thr44Ser)	ZIC3 (T44S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked +2 more	GConflicting classifications of pathogenicity
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 11439	NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala)	ZIC3 (P217A)	Single nucleotide variant (missense variant)	Congenital heart defects 1, nonsyndromic, 1 +3 more	GBenign/Likely benign
Select item 914456	NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)	ZIC3 (N223S)	Single nucleotide variant (missense variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GConflicting classifications of pathogenicity
Select item 367954	NM_003413.4(ZIC3):c.906C>T (p.Cys302=)	ZIC3	Single nucleotide variant (synonymous variant)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign/Likely benign
Select item 914457	NM_003413.4(ZIC3):c.*26T>C	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GConflicting classifications of pathogenicity
Select item 367955	NM_003413.4(ZIC3):c.*41A>G	ZIC3	Single nucleotide variant (intron variant +1 more)	Heterotaxy, visceral, 1, X-linked +2 more	GBenign/Likely benign
Select item 914968	NM_003413.4(ZIC3):c.*153A>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 914969	NM_003413.4(ZIC3):c.*260T>C	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 367956	NM_003413.4(ZIC3):c.*489A>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign/Likely benign
Select item 913012	NM_003413.4(ZIC3):c.*750A>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 367957	NM_003413.4(ZIC3):c.798_802del	ZIC3	Deletion (3 prime UTR variant +1 more)	Congenital heart defects 1, nonsyndromic, 1 +2 more	GUncertain significance
Select item 367958	NM_003413.4(ZIC3):c.1171_1173del	ZIC3	Deletion (3 prime UTR variant +1 more)	Congenital heart defects 1, nonsyndromic, 1 +2 more	GUncertain significance
Select item 367959	NM_003413.4(ZIC3):c.*1189A>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign/Likely benign
Select item 367960	NM_003413.4(ZIC3):c.*1237A>T	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart defects 1, nonsyndromic, 1 +2 more	GUncertain significance
Select item 913013	NM_003413.4(ZIC3):c.*1362T>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 913382	NM_003413.4(ZIC3):c.*1492T>C	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 367961	NM_003413.4(ZIC3):c.*1540G>A	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GConflicting classifications of pathogenicity
Select item 913383	NM_003413.4(ZIC3):c.*1581G>A	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GUncertain significance
Select item 367962	NM_003413.4(ZIC3):c.*1715A>G	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart defects 1, nonsyndromic, 1 +2 more	GUncertain significance
Select item 367963	NM_003413.4(ZIC3):c.*2024G>C	ZIC3	Single nucleotide variant (3 prime UTR variant +1 more)	VACTERL association, X-linked, with or without hydrocephalus +2 more	GBenign/Likely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic

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Items: 28