Related gene-specific medical variations for Gene (Select 7546) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064502	NM_007129.5(ZIC2):c.1204_1214del (p.Tyr402fs)	ZIC2 (Y402fs)	Deletion (frameshift variant)	Holoprosencephaly 5	GLikely benign
Select item 3040139	NM_007129.5(ZIC2):c.1377A>G (p.Ala459=)	LOC110008580, ZIC2	Single nucleotide variant (synonymous variant)	ZIC2-related condition	GLikely benign
Select item 3032994	NM_007129.5(ZIC2):c.1376C>T (p.Ala459Val)	LOC110008580, ZIC2 (A459V)	Single nucleotide variant (missense variant)	ZIC2-related condition	GUncertain significance
Select item 2908653	NM_007129.5(ZIC2):c.1383_1406del (p.Ala463_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2893950	NM_007129.5(ZIC2):c.1380GGC[1] (p.Ala468_Ala470del)	LOC110008580, ZIC2	Microsatellite (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2882340	NM_007129.5(ZIC2):c.1373C>T (p.Ala458Val)	LOC110008580, ZIC2 (A458V)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2854484	NM_007129.5(ZIC2):c.1392_1406dup (p.Ala470_Val471insAlaAlaAlaAlaAla)	LOC110008580, ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 2851481	NM_007129.5(ZIC2):c.1380GGC[3] (p.Ala470del)	LOC110008580, ZIC2 (A470del)	Microsatellite (inframe_deletion)	Holoprosencephaly 5 +1 more	GConflicting classifications of pathogenicity
Select item 2824959	NM_007129.5(ZIC2):c.1380G>A (p.Ala460=)	LOC110008580, ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2768833	NM_007129.5(ZIC2):c.1392_1397dup (p.Ala470_Val471insAlaAla)	LOC110008580, ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 2729832	NM_007129.5(ZIC2):c.1389_1406del (p.Ala465_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2728724	NM_007129.5(ZIC2):c.1383G>A (p.Ala461=)	LOC110008580, ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5 +1 more	GLikely benign
Select item 2727018	NM_007129.5(ZIC2):c.1395GGC[5] (p.Ala470_Val471insAla)	LOC110008580, ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 2573678	NM_007129.5(ZIC2):c.1371_1391del (p.Ala464_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2438653	NM_007129.5(ZIC2):c.143G>C (p.Gly48Ala)	ZIC2 (G48A)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2438652	NM_007129.5(ZIC2):c.797T>C (p.Leu266Pro)	ZIC2 (L266P)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2169542	NM_007129.5(ZIC2):c.1406_1411del (p.Ala469_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2143301	NM_007129.5(ZIC2):c.1406_1411dup (p.Ala470_Val471insAlaAla)	LOC110008580, ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 2103166	NM_007129.5(ZIC2):c.1377A>T (p.Ala459=)	LOC110008580, ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2087882	NM_007129.5(ZIC2):c.1383G>C (p.Ala461=)	LOC110008580, ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2064140	NM_007129.5(ZIC2):c.1392_1400del (p.Ala468_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2029095	NM_007129.5(ZIC2):c.1388_1389insAGCGGCGGCGGCAGCGGCGGCGGCAGCGGCGGC (p.Ala470_Val471insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	LOC110008580, ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5	GLikely pathogenic
Select item 1954181	NM_007129.5(ZIC2):c.1407_1409dup (p.Ala470_Val471insAla)	LOC110008580, ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 1622835	NM_007129.5(ZIC2):c.1392T>A (p.Ala464=)	LOC110008580, ZIC2	Single nucleotide variant (synonymous variant)	ZIC2-related condition +1 more	GLikely benign
Select item 1463663	NM_007129.5(ZIC2):c.1386_1406dup (p.Ala464_Ala470dup)	LOC110008580, ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 1422051	NM_007129.5(ZIC2):c.1392_1400dup (p.Ala468_Ala470dup)	LOC110008580, ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 1414615	NM_007129.5(ZIC2):c.1377_1391del (p.Ala466_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 1393943	NM_007129.5(ZIC2):c.1395GGC[6] (p.Ala469_Ala470dup)	LOC110008580, ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 1359654	NM_007129.5(ZIC2):c.1397_1411del (p.Ala466_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 1359205	NM_007129.5(ZIC2):c.1380GGC[5] (p.Ala470dup)	LOC110008580, ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 1346553	NM_007129.5(ZIC2):c.1386_1406del (p.Ala464_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 1343256	NM_007129.5(ZIC2):c.1377_1406del (p.Ala461_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 1297012	NM_007129.5(ZIC2):c.1382_1411del (p.Ala461_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 1179906	NM_007129.5(ZIC2):c.1076-304T>C	LOC126861830, ZIC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1157121	NM_007129.5(ZIC2):c.1392T>C (p.Ala464=)	LOC110008580, ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 970658	NM_007129.5(ZIC2):c.1377_1382dup (p.Ala469_Ala470dup)	LOC110008580, ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 931600	NM_007129.5(ZIC2):c.716A>C (p.His239Pro)	ZIC2 (H239P)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 931234	NM_007129.5(ZIC2):c.418G>C (p.Gly140Arg)	ZIC2 (G140R)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 729872	NM_007129.5(ZIC2):c.1374G>A (p.Ala458=)	LOC110008580, ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 728344	NM_007129.5(ZIC2):c.1398G>T (p.Ala466=)	LOC110008580, ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 702623	NM_007129.5(ZIC2):c.1392T>G (p.Ala464=)	LOC110008580, ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 635927	NM_007129.5:c.264T>G	PTEN, ZIC2	Single nucleotide variant	Neurodevelopmental disorder	GLikely pathogenic
Select item 397658	NM_007129.3:c.1148_1464del	ZIC2	Deletion	Holoprosencephaly 5	GPathogenic
Select item 286609	NM_007129.5(ZIC2):c.1392_1406del (p.Ala466_Ala470del)	LOC110008580, ZIC2	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 65492	NM_007129.5(ZIC2):c.1091_1092del (p.Gln364fs)	ZIC2 (Q364fs)	Deletion (frameshift variant)	Holoprosencephaly 5	GPathogenic
Select item 65487	NM_007129.5(ZIC2):c.936del (p.Lys312fs)	ZIC2 (K312fs)	Deletion (frameshift variant)	Holoprosencephaly 5	GPathogenic
Select item 6639	NM_007129.5(ZIC2):c.1366GCN[45] (p.Ala456[15])	LOC110008580, ZIC2	Microsatellite	Holoprosencephaly 5	GPathogenic

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Items: 47