ClinVar for Gene (Select 84107) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334710	NM_032153.6(ZIC4):c.-16+967A>T	ZIC4 (R26W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334709	NM_032153.6(ZIC4):c.188T>A (p.Leu63Gln)	ZIC4 (L113Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334708	NM_032153.6(ZIC4):c.136C>A (p.Leu46Ile)	ZIC4 (L46I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246989	NC_000003.11:g.(?_147106646)_(147131338_?)del	ZIC1, ZIC4	Deletion	not provided	GUncertain significance
Select item 3193570	NM_032153.6(ZIC4):c.776C>G (p.Thr259Ser)	ZIC4 (T309S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193569	NM_032153.6(ZIC4):c.427C>T (p.Leu143Phe)	ZIC4 (L181F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193568	NM_032153.6(ZIC4):c.235C>A (p.Pro79Thr)	ZIC4 (P117T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062703	GRCh37/hg19 3q24(chr3:144717495-148147770)x1	PLOD2, PLSCR1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3019363	NM_032153.6(ZIC4):c.988G>A (p.Ala330Thr)	ZIC4 (A124T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3018653	NM_032153.6(ZIC4):c.965C>G (p.Ser322Trp)	ZIC4 (S360W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3007134	NM_032153.6(ZIC4):c.-15-1272T>C	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2984694	NM_032153.6(ZIC4):c.354C>T (p.Arg118=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970155	NM_032153.6(ZIC4):c.199C>T (p.Leu67Phe)	ZIC4 (L105F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2905353	NM_032153.6(ZIC4):c.281C>A (p.Ala94Asp)	ZIC4 (A94D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2904968	NM_032153.6(ZIC4):c.875C>T (p.Pro292Leu)	ZIC4 (P292L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2903316	NM_032153.6(ZIC4):c.-15-1245T>C	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897436	NM_032153.6(ZIC4):c.966G>T (p.Ser322=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894519	NM_032153.6(ZIC4):c.482A>G (p.Glu161Gly)	ZIC4 (E161G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2888623	NM_032153.6(ZIC4):c.-15-1142C>G	ZIC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879459	NM_032153.6(ZIC4):c.295G>A (p.Gly99Arg)	ZIC4 (G99R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2878045	NM_032153.6(ZIC4):c.37T>C (p.Leu13=)	ZIC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867557	NM_032153.6(ZIC4):c.-15-1138C>T	ZIC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867467	NM_032153.6(ZIC4):c.-15-1133C>G	ZIC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863667	NM_032153.6(ZIC4):c.1005-15A>C	ZIC4, ZIC4-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2826138	NM_032153.6(ZIC4):c.210C>G (p.Asp70Glu)	ZIC4 (D120E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2826099	NM_032153.6(ZIC4):c.-15-20del	ZIC4	Deletion (intron variant)	not provided	GLikely benign
Select item 2824429	NM_032153.6(ZIC4):c.454C>A (p.His152Asn)	ZIC4 (H190N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2821723	NM_032153.6(ZIC4):c.731G>T (p.Arg244Leu)	ZIC4 (R244L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2815529	NM_032153.6(ZIC4):c.311C>G (p.Thr104Arg)	ZIC4 (T104R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2811830	NM_032153.6(ZIC4):c.202C>G (p.Pro68Ala)	ZIC4 (P118A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2803032	NM_032153.6(ZIC4):c.224C>T (p.Pro75Leu)	ZIC4 (P113L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2802448	NM_032153.6(ZIC4):c.913G>C (p.Ala305Pro)	ZIC4 (A355P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800222	NM_032153.6(ZIC4):c.71-11T>A	ZIC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796369	NM_032153.6(ZIC4):c.900G>C (p.Ser300=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790384	NM_032153.6(ZIC4):c.688+10C>A	ZIC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779117	NM_032153.6(ZIC4):c.503A>T (p.Gln168Leu)	ZIC4 (Q218L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2776448	NM_032153.6(ZIC4):c.169C>T (p.Arg57Cys)	ZIC4 (R107C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2724608	NM_032153.6(ZIC4):c.626C>T (p.Pro209Leu)	ZIC4 (P209L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2722285	NM_032153.6(ZIC4):c.-15-1271A>C	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2721325	NM_032153.6(ZIC4):c.547A>G (p.Lys183Glu)	ZIC4 (K183E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2721054	NM_032153.6(ZIC4):c.963C>T (p.Ser321=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2715664	NM_032153.6(ZIC4):c.-15-1159G>A	ZIC4 (W43*)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2693766	NM_032153.6(ZIC4):c.865G>T (p.Gly289Trp)	ZIC4 (G289W +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2690460	NM_032153.6(ZIC4):c.34C>T (p.Arg12Ter)	ZIC4 (R12* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2623413	NM_032153.6(ZIC4):c.790T>C (p.Tyr264His)	ZIC4 (Y264H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616441	NM_032153.6(ZIC4):c.793A>C (p.Thr265Pro)	ZIC4 (T315P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612168	NM_032153.6(ZIC4):c.529G>A (p.Glu177Lys)	ZIC4 (E227K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611042	NM_032153.6(ZIC4):c.140A>G (p.His47Arg)	ZIC4 (H47R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554223	NM_032153.6(ZIC4):c.351C>A (p.Phe117Leu)	ZIC4 (F117L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548742	NM_032153.6(ZIC4):c.783C>G (p.Asp261Glu)	ZIC4 (D261E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522222	NM_032153.6(ZIC4):c.815A>G (p.Asp272Gly)	ZIC4 (D322G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2420072	NM_032153.6(ZIC4):c.334G>A (p.Gly112Ser)	ZIC4 (G112S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419216	NM_032153.6(ZIC4):c.-15-1225G>A	ZIC4 (R21K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2411693	NM_032153.6(ZIC4):c.149C>G (p.Pro50Arg)	ZIC4 (P50R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396339	NM_032153.6(ZIC4):c.-16+986C>T	ZIC4 (S32F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394328	NM_032153.6(ZIC4):c.50G>A (p.Arg17Gln)	ZIC4 (R55Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2363642	NM_032153.6(ZIC4):c.127T>G (p.Phe43Val)	ZIC4 (F43V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350807	NM_032153.6(ZIC4):c.74G>A (p.Ser25Asn)	ZIC4 (S25N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2331943	NM_032153.6(ZIC4):c.550C>G (p.Pro184Ala)	ZIC4 (P222A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329441	NM_032153.6(ZIC4):c.-16+952G>A	ZIC4 (A21T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2306087	NM_032153.6(ZIC4):c.968C>G (p.Ala323Gly)	ZIC4 (A323G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263765	NM_032153.6(ZIC4):c.182G>C (p.Gly61Ala)	ZIC4 (G111A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252026	NM_032153.6(ZIC4):c.326C>A (p.Ala109Glu)	ZIC4 (A109E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238476	NM_032153.6(ZIC4):c.-7T>G	ZIC4 (S48R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209026	NM_032153.6(ZIC4):c.236C>T (p.Pro79Leu)	ZIC4 (P117L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208988	NM_032153.6(ZIC4):c.40C>T (p.Arg14Trp)	ZIC4 (R52W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207465	NM_032153.6(ZIC4):c.971C>A (p.Ala324Glu)	ZIC4 (A374E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203866	NM_032153.6(ZIC4):c.-16+901C>T	ZIC4 (P4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2202357	NM_032153.6(ZIC4):c.49C>T (p.Arg17Ter)	ZIC4 (R55* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2190368	NM_032153.6(ZIC4):c.849G>A (p.Lys283=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2189122	NM_032153.6(ZIC4):c.765G>A (p.Ser255=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2186664	NM_032153.6(ZIC4):c.71-10T>C	ZIC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2186630	NM_032153.6(ZIC4):c.132G>A (p.Pro44=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2182835	NM_032153.6(ZIC4):c.198G>C (p.Gly66=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2176911	NM_032153.6(ZIC4):c.209A>G (p.Asp70Gly)	ZIC4 (D108G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175826	NM_032153.6(ZIC4):c.689-5G>A	ZIC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2173933	NM_032153.6(ZIC4):c.277G>T (p.Ala93Ser)	ZIC4 (A143S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2173145	NM_032153.6(ZIC4):c.105C>T (p.Thr35=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2164333	NM_032153.6(ZIC4):c.-15-1282C>T	ZIC4 (P2L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2159206	NM_032153.6(ZIC4):c.273T>C (p.Ala91=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2149539	NM_032153.6(ZIC4):c.487G>T (p.Val163Phe)	ZIC4 (V201F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2101917	NM_032153.6(ZIC4):c.307C>T (p.Leu103=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2092762	NM_032153.6(ZIC4):c.689-14G>A	ZIC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2067264	NM_032153.6(ZIC4):c.-15-6A>G	ZIC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2065748	NM_032153.6(ZIC4):c.274G>C (p.Ala92Pro)	ZIC4 (A130P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2059461	NM_032153.6(ZIC4):c.468G>A (p.Thr156=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2053891	NM_032153.6(ZIC4):c.699C>T (p.Pro233=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2049047	NM_032153.6(ZIC4):c.794C>T (p.Thr265Met)	ZIC4 (T303M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2049035	NM_032153.6(ZIC4):c.831C>T (p.His277=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2047054	NM_032153.6(ZIC4):c.295G>C (p.Gly99Arg)	ZIC4 (G99R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2045426	NM_032153.6(ZIC4):c.248C>T (p.Ala83Val)	ZIC4 (A133V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2041991	NM_032153.6(ZIC4):c.493G>A (p.Gly165Ser)	ZIC4 (G215S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2038269	NM_032153.6(ZIC4):c.506C>G (p.Ala169Gly)	ZIC4 (A169G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2023752	NM_032153.6(ZIC4):c.459G>A (p.Glu153=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2012261	NM_032153.6(ZIC4):c.161C>G (p.Ser54Cys)	ZIC4 (S104C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1985172	NM_032153.6(ZIC4):c.744C>T (p.Ser248=)	ZIC4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1982284	NM_032153.6(ZIC4):c.899C>G (p.Ser300Trp)	ZIC4 (S300W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1978406	NM_032153.6(ZIC4):c.28A>G (p.Arg10Gly)	ZIC4 (R48G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975529	NM_032153.6(ZIC4):c.152C>T (p.Pro51Leu)	ZIC4 (P101L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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