zic1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937661, LOC129937662 +320 more	Copy number loss	See cases	GPathogenic
Select item 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 more	Copy number loss	See cases	GPathogenic
Select item 1196019	NC_000003.12:g.147409057A>G	ZIC1	Single nucleotide variant	not provided	GLikely benign
Select item 1201471	NM_003412.4(ZIC1):c.-566dup	ZIC1	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 1250654	NM_003412.4(ZIC1):c.-566del	ZIC1	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1262653	NM_003412.4(ZIC1):c.-129C>T	ZIC1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1713843	NM_003412.4(ZIC1):c.4C>T (p.Leu2Phe)	ZIC1 (L2F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723074	NM_003412.4(ZIC1):c.19C>T (p.Pro7Ser)	ZIC1 (P7S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2781696	NM_003412.4(ZIC1):c.33G>A (p.Ala11=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1495408	NM_003412.4(ZIC1):c.59C>T (p.Ser20Phe)	ZIC1 (S20F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596848	NM_003412.4(ZIC1):c.60C>T (p.Ser20=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562070	NM_003412.4(ZIC1):c.91C>A (p.Arg31=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415940	NM_003412.4(ZIC1):c.105G>T (p.Leu35=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478645	NM_003412.4(ZIC1):c.121G>A (p.Ala41Thr)	ZIC1 (A41T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1061624	NM_003412.4(ZIC1):c.124G>A (p.Asp42Asn)	ZIC1 (D42N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2633251	NM_003412.4(ZIC1):c.130A>G (p.Met44Val)	ZIC1 (M44V)	Single nucleotide variant (missense variant)	ZIC1-related condition	GUncertain significance
Select item 2982747	NM_003412.4(ZIC1):c.136G>T (p.Ala46Ser)	ZIC1 (A46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654209	NM_003412.4(ZIC1):c.159G>T (p.Ser53=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952042	NM_003412.4(ZIC1):c.162C>A (p.His54Gln)	ZIC1 (H54Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413059	NM_003412.4(ZIC1):c.163G>T (p.Glu55Ter)	ZIC1 (E55*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1619792	NM_003412.4(ZIC1):c.186G>A (p.Thr62=)	ZIC1	Single nucleotide variant (synonymous variant)	ZIC1-related condition +1 more	GLikely benign
Select item 1561284	NM_003412.4(ZIC1):c.187G>T (p.Ala63Ser)	ZIC1 (A63S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2189123	NM_003412.4(ZIC1):c.204G>T (p.Ala68=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504481	NM_003412.4(ZIC1):c.205C>A (p.Pro69Thr)	ZIC1 (P69T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071172	NM_003412.4(ZIC1):c.216G>A (p.Ala72=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918855	NM_003412.4(ZIC1):c.229C>T (p.Leu77=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416505	NM_003412.4(ZIC1):c.270C>T (p.Ser90=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 863632	NM_003412.4(ZIC1):c.282C>G (p.Phe94Leu)	ZIC1 (F94L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809556	NM_003412.4(ZIC1):c.301C>A (p.Leu101Met)	ZIC1 (L101M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2838285	NM_003412.4(ZIC1):c.303G>C (p.Leu101=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1335542	NM_003412.4(ZIC1):c.307C>A (p.Arg103Ser)	ZIC1 (R103S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674706	NM_003412.4(ZIC1):c.312C>T (p.Asn104=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049978	NM_003412.4(ZIC1):c.312C>A (p.Asn104Lys)	ZIC1 (N104K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804744	NM_003412.4(ZIC1):c.314G>C (p.Arg105Pro)	ZIC1 (R105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1575166	NM_003412.4(ZIC1):c.328G>C (p.Ala110Pro)	ZIC1 (A110P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2168650	NM_003412.4(ZIC1):c.336G>A (p.Ala112=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830636	NM_003412.4(ZIC1):c.356G>A (p.Ser119Asn)	ZIC1 (S119N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2022338	NM_003412.4(ZIC1):c.360C>T (p.Leu120=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189124	NM_003412.4(ZIC1):c.363T>C (p.Phe121=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443387	NM_003412.4(ZIC1):c.386G>A (p.Gly129Glu)	ZIC1 (G129E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177220	NM_003412.4(ZIC1):c.405G>T (p.Thr135=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737043	NM_003412.4(ZIC1):c.405G>A (p.Thr135=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2787282	NM_003412.4(ZIC1):c.426C>T (p.Leu142=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919459	NM_003412.4(ZIC1):c.426C>A (p.Leu142=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1315171	NM_003412.4(ZIC1):c.431C>T (p.Pro144Leu)	ZIC1 (P144L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495702	NM_003412.4(ZIC1):c.436C>T (p.Leu146Phe)	ZIC1 (L146F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008435	NM_003412.4(ZIC1):c.448G>T (p.Ala150Ser)	ZIC1 (A150S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2601400	NM_003412.4(ZIC1):c.452C>T (p.Ala151Val)	ZIC1 (A151V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 735119	NM_003412.4(ZIC1):c.453C>G (p.Ala151=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2554786	NM_003412.4(ZIC1):c.460G>A (p.Ala154Thr)	ZIC1 (A154T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1624640	NM_003412.4(ZIC1):c.465G>T (p.Ser155=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912573	NM_003412.4(ZIC1):c.474G>T (p.Val158=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872423	NM_003412.4(ZIC1):c.504G>A (p.Ser168=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2531879	NM_003412.4(ZIC1):c.505G>A (p.Gly169Arg)	ZIC1 (G169R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2901217	NM_003412.4(ZIC1):c.512T>C (p.Met171Thr)	ZIC1 (M171T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737689	NM_003412.4(ZIC1):c.513G>A (p.Met171Ile)	ZIC1 (M171I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599366	NM_003412.4(ZIC1):c.519G>A (p.Pro173=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2157195	NM_003412.4(ZIC1):c.534C>T (p.Tyr178=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734775	NM_003412.4(ZIC1):c.552G>C (p.Pro184=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717279	NM_003412.4(ZIC1):c.565T>C (p.Tyr189His)	ZIC1 (Y189H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1569870	NM_003412.4(ZIC1):c.576G>A (p.Pro192=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791438	NM_003412.4(ZIC1):c.585C>T (p.His195=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127869	NM_003412.4(ZIC1):c.586G>A (p.Gly196Ser)	ZIC1 (G196S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704006	NM_003412.4(ZIC1):c.590A>G (p.Tyr197Cys)	ZIC1 (Y197C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105050	NM_003412.4(ZIC1):c.595C>G (p.Pro199Ala)	ZIC1 (P199A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017889	NM_003412.4(ZIC1):c.603C>T (p.Asn201=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971979	NM_003412.4(ZIC1):c.604G>A (p.Val202Met)	ZIC1 (V202M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462372	NM_003412.4(ZIC1):c.608A>G (p.Asn203Ser)	ZIC1 (N203S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851052	NM_003412.4(ZIC1):c.610A>T (p.Met204Leu)	ZIC1 (M204L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1536265	NM_003412.4(ZIC1):c.631G>C (p.Gly211Arg)	ZIC1 (G211R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1720362	NM_003412.4(ZIC1):c.634G>T (p.Ala212Ser)	ZIC1 (A212S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698581	NM_003412.4(ZIC1):c.679T>C (p.Cys227Arg)	ZIC1 (C227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2099386	NM_003412.4(ZIC1):c.691G>C (p.Glu231Gln)	ZIC1 (E231Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748821	NM_003412.4(ZIC1):c.697G>A (p.Glu233Lys)	ZIC1 (E233K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978509	NM_003412.4(ZIC1):c.713C>T (p.Pro238Leu)	ZIC1 (P238L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 781842	NM_003412.4(ZIC1):c.723G>C (p.Ser241=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762980	NM_003412.4(ZIC1):c.723G>A (p.Ser241=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3046782	NM_003412.4(ZIC1):c.783A>G (p.Val261=)	ZIC1	Single nucleotide variant (synonymous variant)	ZIC1-related condition	GLikely benign
Select item 720324	NM_003412.4(ZIC1):c.789C>T (p.Gly263=)	ZIC1	Single nucleotide variant (synonymous variant)	ZIC1-related condition +1 more	GBenign/Likely benign
Select item 2299923	NM_003412.4(ZIC1):c.829C>A (p.Pro277Thr)	ZIC1 (P277T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2085252	NM_003412.4(ZIC1):c.891G>A (p.Thr297=)	ZIC1	Single nucleotide variant (synonymous variant)	ZIC1-related condition +1 more	GBenign/Likely benign
Select item 775204	NM_003412.4(ZIC1):c.945C>T (p.Arg315=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1633378	NM_003412.4(ZIC1):c.957A>G (p.Leu319=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1191301	NM_003412.4(ZIC1):c.982+170A>T	ZIC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1610012	NM_003412.4(ZIC1):c.983-20T>C	ZIC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1644746	NM_003412.4(ZIC1):c.983-17T>C	ZIC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928279	NM_003412.4(ZIC1):c.983-4C>T	ZIC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1442641	NM_003412.4(ZIC1):c.992C>T (p.Pro331Leu)	ZIC1 (P331L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967869	NM_003412.4(ZIC1):c.1065G>T (p.Val355=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907805	NM_003412.4(ZIC1):c.1071G>C (p.Thr357=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 420783	NM_003412.4(ZIC1):c.1092C>A (p.Cys364Ter)	ZIC1 (C364*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1333899	NM_003412.4(ZIC1):c.1097T>A (p.Met366Lys)	ZIC1 (M366K)	Single nucleotide variant (missense variant)	Craniosynostosis 6 +2 more	GUncertain significance
Select item 777586	NM_003412.4(ZIC1):c.1116G>T (p.Thr372=)	ZIC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342557	NM_003412.4(ZIC1):c.1117C>A (p.His373Asn)	ZIC1 (H373N)	Single nucleotide variant (missense variant)	Structural brain anomalies with impaired intellectual development and craniosynostosis	GLikely pathogenic
Select item 1406857	NM_003412.4(ZIC1):c.1129C>A (p.Leu377Met)	ZIC1 (L377M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 985542	NM_003412.4(ZIC1):c.1130T>C (p.Leu377Pro)	ZIC1 (L377P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1802021	NM_003412.4(ZIC1):c.1142T>C (p.Met381Thr)	ZIC1 (M381T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747213	NM_003412.4(ZIC1):c.1146+7G>T	ZIC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964253	NM_003412.4(ZIC1):c.1146+9C>T	ZIC1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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