ZIC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	ABCC4, ABHD13 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	ABCC4, ABHD13 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC130010067, LOC130010068 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC132090867, MBNL2 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	LOC130009970, LOC130009971 +638 more	Copy number gain	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 148962	GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1	LOC124946325, LOC124946326 +271 more	Copy number loss	See cases	GPathogenic
Select item 144504	GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	BIVM, BIVM-ERCC5 +184 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 57682	GRCh38/hg38 13q32.3-33.1(chr13:99034367-101217397)x1	CLYBL, CLYBL-AS1 +95 more	Copy number loss	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 1191020	NC_000013.11:g.99981741C>A	ZIC2	Single nucleotide variant	not provided	GLikely benign
Select item 451183	NM_007129.5(ZIC2):c.-19G>C	ZIC2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1346003	NM_007129.5(ZIC2):c.1A>T (p.Met1Leu)	ZIC2 (M1L)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 5	GUncertain significance
Select item 2809173	NM_007129.5(ZIC2):c.2T>C (p.Met1Thr)	ZIC2 (M1T)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 5	GUncertain significance
Select item 1922809	NM_007129.5(ZIC2):c.6C>T (p.Leu2=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 1472362	NM_007129.5(ZIC2):c.14C>T (p.Ala5Val)	ZIC2 (A5V)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 817549	NM_007129.5(ZIC2):c.22C>T (p.Gln8Ter)	ZIC2 (Q8*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2084085	NM_007129.5(ZIC2):c.27C>T (p.Phe9=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 450654	NM_007129.5(ZIC2):c.37G>C (p.Gly13Arg)	ZIC2 (G13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716735	NM_007129.5(ZIC2):c.39G>A (p.Gly13=)	ZIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360898	NM_007129.5(ZIC2):c.41T>C (p.Val14Ala)	ZIC2 (V14A)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2534782	NM_007129.5(ZIC2):c.43G>A (p.Gly15Ser)	ZIC2 (G15S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633458	NM_007129.5(ZIC2):c.47G>A (p.Ser16Asn)	ZIC2 (S16N)	Single nucleotide variant (missense variant)	ZIC2-related disorder	GUncertain significance
Select item 3038282	NM_007129.5(ZIC2):c.51C>T (p.Phe17=)	ZIC2	Single nucleotide variant (synonymous variant)	ZIC2-related disorder	GLikely benign
Select item 1385283	NM_007129.5(ZIC2):c.52G>C (p.Ala18Pro)	ZIC2 (A18P)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1990898	NM_007129.5(ZIC2):c.54G>T (p.Ala18=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2193791	NM_007129.5(ZIC2):c.57C>T (p.Arg19=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2744216	NM_007129.5(ZIC2):c.78GGC[6] (p.Ala33_Glu34insAla)	ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 1382984	NM_007129.5(ZIC2):c.78GGC[2] (p.Ala31_Ala33del)	ZIC2	Microsatellite (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 2244731	NM_007129.5(ZIC2):c.77C>G (p.Ala26Gly)	ZIC2 (A26G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1417640	NM_007129.5(ZIC2):c.80C>T (p.Ala27Val)	ZIC2 (A27V)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2232044	NM_007129.5(ZIC2):c.85_86insGGGGGGGGGG (p.Ala29fs)	ZIC2 (A29fs)	Insertion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2230324	NM_007129.5(ZIC2):c.83C>G (p.Ala28Gly)	ZIC2 (A28G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230096	NM_007129.5(ZIC2):c.85_86insGGGGGGGGG (p.Ala28_Ala29insGlyGlyGly)	ZIC2	Insertion (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2229706	NM_007129.5(ZIC2):c.85_86insGGGGGG (p.Ala28_Ala29insGlyGly)	ZIC2	Insertion (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 2372120	NM_007129.5(ZIC2):c.86C>G (p.Ala29Gly)	ZIC2 (A29G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193562	NM_007129.5(ZIC2):c.88G>A (p.Ala30Thr)	ZIC2 (A30T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395100	NM_007129.5(ZIC2):c.89C>A (p.Ala30Glu)	ZIC2 (A30E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629921	NM_007129.5(ZIC2):c.92C>A (p.Ala31Asp)	ZIC2 (A31D)	Single nucleotide variant (missense variant)	ZIC2-related disorder	GUncertain significance
Select item 3013771	NM_007129.5(ZIC2):c.95CCG[4] (p.Ala33_Glu34insAlaAla)	ZIC2	Microsatellite (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 1932062	NM_007129.5(ZIC2):c.102G>A (p.Glu34=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2374873	NM_007129.5(ZIC2):c.107A>C (p.Gln36Pro)	ZIC2 (Q36P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2736050	NM_007129.5(ZIC2):c.109G>A (p.Asp37Asn)	ZIC2 (D37N)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 3006954	NM_007129.5(ZIC2):c.112C>G (p.Arg38Gly)	ZIC2 (R38G)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1306668	NM_007129.5(ZIC2):c.137A>G (p.Gln46Arg)	ZIC2 (Q46R)	Single nucleotide variant (missense variant)	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 1365371	NM_007129.5(ZIC2):c.143G>A (p.Gly48Asp)	ZIC2 (G48D)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2840275	NM_007129.5(ZIC2):c.147C>G (p.Phe49Leu)	ZIC2 (F49L)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1050949	NM_007129.5(ZIC2):c.157G>C (p.Ala53Pro)	ZIC2 (A53P)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1714927	NM_007129.5(ZIC2):c.167A>C (p.His56Pro)	ZIC2 (H56P)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1306100	NM_007129.5(ZIC2):c.171G>A (p.Met57Ile)	ZIC2 (M57I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193352	NM_007129.5(ZIC2):c.171G>C (p.Met57Ile)	ZIC2 (M57I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714184	NM_007129.5(ZIC2):c.176C>A (p.Ala59Asp)	ZIC2 (A59D)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 6637	NM_007129.4(ZIC2):c.177_178ins56	ZIC2	Insertion	Holoprosencephaly 5	GPathogenic
Select item 2317081	NM_007129.5(ZIC2):c.179T>C (p.Phe60Ser)	ZIC2 (F60S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2898948	NM_007129.5(ZIC2):c.192G>C (p.Pro64=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2196725	NM_007129.5(ZIC2):c.195C>T (p.Gly65=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5 +1 more	GLikely benign
Select item 1690986	NM_007129.5(ZIC2):c.208T>C (p.Ser70Pro)	ZIC2 (S70P)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2148646	NM_007129.5(ZIC2):c.210C>G (p.Ser70=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 260131	NM_007129.5(ZIC2):c.213G>A (p.Pro71=)	ZIC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 971307	NM_007129.5(ZIC2):c.230_236delinsCA (p.Phe77fs)	ZIC2 (F77fs)	Indel (frameshift variant)	Holoprosencephaly 5	GPathogenic
Select item 2160985	NM_007129.5(ZIC2):c.231C>G (p.Phe77Leu)	ZIC2 (F77L)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2690459	NM_007129.5(ZIC2):c.242_253dup (p.Ala84_Tyr85insCysProGlyAla)	ZIC2	Duplication (inframe_insertion)	Holoprosencephaly 5	GUncertain significance
Select item 2321022	NM_007129.5(ZIC2):c.251C>A (p.Ala84Asp)	ZIC2 (A84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1413309	NM_007129.5(ZIC2):c.260G>A (p.Gly87Asp)	ZIC2 (G87D)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 1659523	NM_007129.5(ZIC2):c.261C>T (p.Gly87=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2905405	NM_007129.5(ZIC2):c.273_284del (p.Ala94_Ala97del)	ZIC2	Deletion (inframe_deletion)	Holoprosencephaly 5	GUncertain significance
Select item 1495498	NM_007129.5(ZIC2):c.265G>C (p.Ala89Pro)	ZIC2 (A89P)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 3056551	NM_007129.5(ZIC2):c.273T>C (p.Ala91=)	ZIC2	Single nucleotide variant (synonymous variant)	ZIC2-related disorder	GLikely benign
Select item 3057029	NM_007129.5(ZIC2):c.279T>G (p.Ala93=)	ZIC2	Single nucleotide variant (synonymous variant)	ZIC2-related disorder	GLikely benign
Select item 2917848	NM_007129.5(ZIC2):c.282G>T (p.Ala94=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 260132	NM_007129.5(ZIC2):c.282G>C (p.Ala94=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5 +1 more	GLikely benign
Select item 1628759	NM_007129.5(ZIC2):c.297G>A (p.Gly99=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2836674	NM_007129.5(ZIC2):c.298C>T (p.Pro100Ser)	ZIC2 (P100S)	Single nucleotide variant (missense variant)	Holoprosencephaly 5	GUncertain significance
Select item 2193573	NM_007129.5(ZIC2):c.300C>T (p.Pro100=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2229336	NM_007129.5(ZIC2):c.302A>C (p.His101Pro)	ZIC2 (H101P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 545578	NM_007129.5(ZIC2):c.321del (p.Tyr108fs)	ZIC2 (Y108fs)	Deletion (frameshift variant)	Holoprosencephaly 5	GPathogenic
Select item 2501364	NM_007129.5(ZIC2):c.323A>T (p.Tyr108Phe)	ZIC2 (Y108F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712888	NM_007129.5(ZIC2):c.330G>A (p.Gly110=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 753330	NM_007129.5(ZIC2):c.348C>A (p.Thr116=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign
Select item 2850761	NM_007129.5(ZIC2):c.358C>T (p.Leu120=)	ZIC2	Single nucleotide variant (synonymous variant)	Holoprosencephaly 5	GLikely benign

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