ClinVar for MedGen (Select 336609) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064809	NM_003413.4(ZIC3):c.1107T>A (p.Phe369Leu)	ZIC3 (F369L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GLikely pathogenic
Select item 2916132	NM_003413.4(ZIC3):c.900G>A (p.Glu300=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked	GLikely benign
Select item 2887712	NM_003413.4(ZIC3):c.435C>G (p.Ser145Arg)	ZIC3 (S145R)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 2814022	NM_003413.4(ZIC3):c.109_112del (p.Leu37fs)	ZIC3 (L37fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 2737377	NM_003413.4(ZIC3):c.463G>T (p.Glu155Ter)	ZIC3 (E155*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 2722011	NM_003413.4(ZIC3):c.676A>C (p.Met226Leu)	ZIC3 (M226L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GBenign
Select item 2500733	NM_003413.4(ZIC3):c.971_972delinsAA (p.Gly324Glu)	ZIC3 (G324E)	Indel (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 2183993	NM_003413.4(ZIC3):c.36T>C (p.Pro12=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked	GLikely benign
Select item 2163604	NM_003413.4(ZIC3):c.312C>T (p.Tyr104=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked	GLikely benign
Select item 2118751	NM_003413.4(ZIC3):c.727_740del (p.Met243fs)	ZIC3 (M243fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 2118034	NM_003413.4(ZIC3):c.976A>T (p.Lys326Ter)	ZIC3 (K326*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 2037070	NM_003413.4(ZIC3):c.1060+13A>T	ZIC3	Single nucleotide variant (intron variant)	Heterotaxy, visceral, 1, X-linked	GBenign
Select item 2012571	NM_003413.4(ZIC3):c.54C>T (p.Ser18=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked	GLikely benign
Select item 1989152	NM_003413.4(ZIC3):c.876G>C (p.Gln292His)	ZIC3 (Q292H)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 1952535	NM_003413.4(ZIC3):c.667A>G (p.Asn223Asp)	ZIC3 (N223D)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 1806012	NM_003413.4(ZIC3):c.1079G>A (p.Cys360Tyr)	ZIC3 (C360Y)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GLikely pathogenic
Select item 1805378	NM_003413.4(ZIC3):c.1292C>T (p.Pro431Leu)	ZIC3 (P431L)	Single nucleotide variant (missense variant +1 more)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 1719723	NM_003413.4(ZIC3):c.1217A>T (p.His406Leu)	ZIC3 (H406L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 1718874	NM_003413.4(ZIC3):c.268C>T (p.His90Tyr)	ZIC3 (H90Y)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 1707614	NM_003413.4(ZIC3):c.599del (p.Arg200fs)	ZIC3 (R200fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 1649570	NM_003413.4(ZIC3):c.870G>A (p.Pro290=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked	GLikely benign
Select item 1603751	NM_003413.4(ZIC3):c.429G>C (p.Ser143=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked	GLikely benign
Select item 1599423	NM_003413.4(ZIC3):c.739A>G (p.Ile247Val)	ZIC3 (I247V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked +1 more	GBenign/Likely benign
Select item 1495403	NM_003413.4(ZIC3):c.97G>T (p.Ala33Ser)	ZIC3 (A33S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 1479398	NM_003413.4(ZIC3):c.251C>G (p.Ala84Gly)	ZIC3 (A84G)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 1458589	NC_000023.10:g.(?_135067662)_(136652229_?)del	ADGRG4, HTATSF1 +10 more	Deletion	Heterotaxy, visceral, 1, X-linked +2 more	GPathogenic
Select item 1416124	NM_003413.4(ZIC3):c.810del (p.Thr271fs)	ZIC3 (T271fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 1335917	NM_001170754.2(C1orf127):c.337C>T (p.Arg113Ter)	C1orf127 (R113*)	Single nucleotide variant (nonsense +1 more)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 1285187	NM_003413.4(ZIC3):c.667AACATG[3] (p.223NM[3])	ZIC3	Microsatellite (inframe_insertion)	Heterotaxy, visceral, 1, X-linked	GLikely benign
Select item 1165470	NM_003413.4(ZIC3):c.1342G>A (p.Val448Ile)	ZIC3 (V448I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1145696	NM_003413.4(ZIC3):c.366G>A (p.Gln122=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked	GLikely benign
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 1075476	NM_003413.4(ZIC3):c.860_864del (p.Val287fs)	ZIC3 (V287fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 1074222	NM_003413.4(ZIC3):c.1103del (p.Arg368fs)	ZIC3 (R368fs)	Deletion (frameshift variant)	VACTERL association, X-linked, with or without hydrocephalus +1 more	GPathogenic/Likely pathogenic
Select item 1062515	NC_000023.10:g.(?_136648845)_(136652234_?)dup	ZIC3	Duplication	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 1044413	NM_003413.4(ZIC3):c.326C>G (p.Ser109Cys)	ZIC3 (S109C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 1033580	NM_003413.4(ZIC3):c.105G>A (p.Met35Ile)	ZIC3 (M35I)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 1020263	NM_003413.4(ZIC3):c.1211G>T (p.Arg404Leu)	ZIC3 (R404L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 961872	NM_003413.4(ZIC3):c.92A>T (p.Glu31Val)	ZIC3 (E31V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 959314	NM_003413.4(ZIC3):c.1184_1192del (p.Lys395_Tyr397del)	ZIC3	Deletion (inframe_deletion)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 951637	NM_003413.4(ZIC3):c.508_514del (p.Ala170fs)	ZIC3 (A170fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 936067	NM_003413.4(ZIC3):c.984C>G (p.Phe328Leu)	ZIC3 (F328L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	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 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 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 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 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 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 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 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 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 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 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 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 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 853140	NM_003413.4(ZIC3):c.128C>G (p.Ser43Ter)	ZIC3 (S43*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 853122	NM_003413.4(ZIC3):c.1161del (p.Tyr388fs)	ZIC3 (Y388fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 816872	NM_003413.4(ZIC3):c.958C>T (p.Arg320Ter)	ZIC3 (R320*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 1, X-linked	GLikely pathogenic
Select item 755186	NM_003413.4(ZIC3):c.18C>T (p.Asp6=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked	GLikely benign
Select item 707781	NM_003413.4(ZIC3):c.420C>T (p.Phe140=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked	GBenign
Select item 703710	NM_003413.4(ZIC3):c.141C>T (p.Ala47=)	ZIC3	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 1, X-linked	GLikely benign
Select item 664421	NM_003413.4(ZIC3):c.135CGC[7] (p.Ala54_Ala55del)	ZIC3	Microsatellite (inframe_deletion)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 645837	NM_003413.4(ZIC3):c.571del (p.Glu191fs)	ZIC3 (E191fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
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 570392	NM_003413.4(ZIC3):c.535dup (p.Val179fs)	ZIC3 (V179fs)	Duplication (frameshift variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 570089	NM_003413.4(ZIC3):c.882C>G (p.Asn294Lys)	ZIC3 (N294K)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 567684	NM_003413.4(ZIC3):c.1050G>C (p.Arg350Ser)	ZIC3 (R350S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 545555	NM_003413.4(ZIC3):c.593_609del (p.Pro198fs)	ZIC3 (P198fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 545554	NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter)	ZIC3 (S43*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 545553	NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser)	ZIC3 (C253S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 545552	NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter)	ZIC3 (S252*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 533554	NM_003413.4(ZIC3):c.98C>T (p.Ala33Val)	ZIC3 (A33V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GLikely benign
Select item 533553	NM_003413.4(ZIC3):c.1248T>G (p.Asp416Glu)	ZIC3 (D416E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 497977	NM_003413.4(ZIC3):c.270C>T (p.His90=)	ZIC3	Single nucleotide variant (synonymous variant)	not provided +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 464969	NM_003413.4(ZIC3):c.1069C>A (p.Pro357Thr)	ZIC3 (P357T)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 464967	NM_003413.4(ZIC3):c.476_479del (p.Tyr159fs)	ZIC3 (Y159fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 418553	NM_003413.4(ZIC3):c.19G>C (p.Gly7Arg)	ZIC3 (G7R)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 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 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 279591	NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser)	ZIC3 (W255S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 1, X-linked	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 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 239539	NM_003413.4(ZIC3):c.912G>A (p.Arg304=)	ZIC3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 239538	NM_003413.3(ZIC3):c.-505-?_*2030+?dup	ZIC3	Duplication	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 216089	NM_003413.3(ZIC3):c.(?_-1)_(*1_?)del	ZIC3	Deletion	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 195195	NM_003413.4(ZIC3):c.1194G>T (p.Thr398=)	ZIC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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

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