ClinVar for Gene (Select 7776) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335238	NM_001306089.2(ZNF236):c.4129A>T (p.Ile1377Phe)	ZNF236 (I1375F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335237	NM_001306089.2(ZNF236):c.3124C>T (p.Arg1042Trp)	ZNF236 (R1040W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335236	NM_001306089.2(ZNF236):c.1501C>T (p.Arg501Cys)	ZNF236 (R499C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335235	NM_001306089.2(ZNF236):c.5329G>C (p.Glu1777Gln)	ZNF236 (E1775Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335234	NM_001306089.2(ZNF236):c.3963G>C (p.Gln1321His)	ZNF236 (Q1321H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335233	NM_001306089.2(ZNF236):c.3143T>G (p.Met1048Arg)	ZNF236 (M1046R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335232	NM_001306089.2(ZNF236):c.955A>G (p.Ser319Gly)	ZNF236 (S317G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3335231	NM_001306089.2(ZNF236):c.5425C>G (p.Leu1809Val)	ZNF236 (L1807V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335230	NM_001306089.2(ZNF236):c.4943C>T (p.Pro1648Leu)	ZNF236 (P1648L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194637	NM_001306089.2(ZNF236):c.911C>T (p.Thr304Met)	ZNF236 (T304M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194635	NM_001306089.2(ZNF236):c.620C>T (p.Thr207Met)	ZNF236 (T207M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194633	NM_001306089.2(ZNF236):c.4855A>G (p.Ile1619Val)	ZNF236 (I1617V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194632	NM_001306089.2(ZNF236):c.4607C>T (p.Thr1536Ile)	ZNF236 (T1534I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194631	NM_001306089.2(ZNF236):c.4186A>G (p.Ile1396Val)	ZNF236 (I1396V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194630	NM_001306089.2(ZNF236):c.4084A>G (p.Ile1362Val)	ZNF236 (I1362V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194628	NM_001306089.2(ZNF236):c.4006A>G (p.Ile1336Val)	ZNF236 (I1334V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194627	NM_001306089.2(ZNF236):c.3905A>G (p.Asn1302Ser)	ZNF236 (N1302S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194626	NM_001306089.2(ZNF236):c.3110A>G (p.Asn1037Ser)	ZNF236 (N1035S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194625	NM_001306089.2(ZNF236):c.3038A>G (p.Lys1013Arg)	ZNF236 (K1011R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194624	NM_001306089.2(ZNF236):c.2918A>G (p.Tyr973Cys)	ZNF236 (Y971C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194623	NM_001306089.2(ZNF236):c.2786G>T (p.Ser929Ile)	ZNF236 (S929I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194622	NM_001306089.2(ZNF236):c.274G>T (p.Gly92Trp)	ZNF236 (G92W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194621	NM_001306089.2(ZNF236):c.2618C>T (p.Ala873Val)	ZNF236 (A871V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194620	NM_001306089.2(ZNF236):c.2510T>C (p.Leu837Pro)	ZNF236 (L837P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194619	NM_001306089.2(ZNF236):c.2224C>T (p.Pro742Ser)	ZNF236 (P742S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194618	NM_001306089.2(ZNF236):c.1964C>G (p.Ala655Gly)	ZNF236 (A653G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194617	NM_001306089.2(ZNF236):c.1922A>C (p.Gln641Pro)	ZNF236 (Q639P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194616	NM_001306089.2(ZNF236):c.1907C>A (p.Pro636His)	ZNF236 (P634H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194615	NM_001306089.2(ZNF236):c.1778A>G (p.His593Arg)	ZNF236 (H591R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194613	NM_001306089.2(ZNF236):c.127A>G (p.Ile43Val)	ZNF236 (I41V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194612	NM_001306089.2(ZNF236):c.1219A>G (p.Ile407Val)	ZNF236 (I405V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148889	GRCh37/hg19 18q22.1-23(chr18:65549783-78013728)x3	ADNP2, ATP9B +34 more	Copy number gain	not provided	GPathogenic
Select item 3063551	GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1	ADNP2, ATP9B +19 more	Copy number loss	not specified	GPathogenic
Select item 3063550	GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1	ADNP2, ATP9B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063547	GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1	ADNP2, ATP9B +28 more	Copy number loss	not specified	GPathogenic
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 2685626	GRCh37/hg19 18q22.3-23(chr18:71401603-78014123)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic
Select item 2685624	GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1	ADNP2, ATP9B +51 more	Copy number loss	not provided	GPathogenic
Select item 2684880	GRCh37/hg19 18q23(chr18:74259955-75082456)x3	GALR1, LINC00683 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2648817	NM_001306089.2(ZNF236):c.55+1740C>T	ZNF236	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2613789	NM_001306089.2(ZNF236):c.5264C>T (p.Thr1755Met)	ZNF236 (T1755M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608797	NM_001306089.2(ZNF236):c.1444C>T (p.Arg482Cys)	ZNF236 (R480C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606101	NM_001306089.2(ZNF236):c.4502A>G (p.Asn1501Ser)	ZNF236 (N1499S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592700	NM_001306089.2(ZNF236):c.1558G>A (p.Ala520Thr)	ZNF236 (A520T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578813	GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1	SMIM21, TXNL4A +37 more	Copy number loss	not provided	GPathogenic
Select item 2574698	GRCh37/hg19 18q22.1-23(chr18:66057406-78014123)	ADNP2, ATP9B +34 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 2571020	GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1	ADNP2, ATP9B +26 more	Copy number loss	not provided	GPathogenic
Select item 2558460	NM_001306089.2(ZNF236):c.2891A>G (p.Gln964Arg)	ZNF236 (Q962R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553962	NM_001306089.2(ZNF236):c.4454T>C (p.Leu1485Pro)	ZNF236 (L1485P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538592	NM_001306089.2(ZNF236):c.3928G>A (p.Val1310Met)	ZNF236 (V1308M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537287	NM_001306089.2(ZNF236):c.1096C>A (p.Leu366Ile)	ZNF236 (L366I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536317	NM_001306089.2(ZNF236):c.3464G>A (p.Arg1155Lys)	ZNF236 (R1155K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532816	NM_001306089.2(ZNF236):c.4747G>A (p.Gly1583Ser)	ZNF236 (G1581S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531388	NM_001306089.2(ZNF236):c.938G>A (p.Gly313Glu)	ZNF236 (G313E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525132	NM_001306089.2(ZNF236):c.1934G>A (p.Ser645Asn)	ZNF236 (S643N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523108	NM_001306089.2(ZNF236):c.5207C>T (p.Pro1736Leu)	ZNF236 (P1736L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515724	NM_001306089.2(ZNF236):c.2342C>T (p.Ser781Leu)	ZNF236 (S779L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500799	GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1	CYB5A, PARD6G +33 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic
Select item 2489766	NM_001306089.2(ZNF236):c.1294T>C (p.Ser432Pro)	ZNF236 (S430P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481014	NM_001306089.2(ZNF236):c.4397T>C (p.Leu1466Pro)	ZNF236 (L1464P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472017	NM_001306089.2(ZNF236):c.1781C>T (p.Thr594Met)	ZNF236 (T592M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460554	NM_001306089.2(ZNF236):c.2359G>A (p.Val787Ile)	ZNF236 (V785I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458137	NM_001306089.2(ZNF236):c.1361A>C (p.Glu454Ala)	ZNF236 (E454A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454193	NM_001306089.2(ZNF236):c.983C>T (p.Thr328Met)	ZNF236 (T326M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407295	NM_001306089.2(ZNF236):c.1019C>T (p.Thr340Met)	ZNF236 (T338M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393232	NM_001306089.2(ZNF236):c.4961A>C (p.Lys1654Thr)	ZNF236 (K1654T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391197	NM_001306089.2(ZNF236):c.4468G>A (p.Gly1490Ser)	ZNF236 (G1488S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383859	NM_001306089.2(ZNF236):c.1358C>T (p.Pro453Leu)	ZNF236 (P453L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379262	NM_001306089.2(ZNF236):c.4393G>C (p.Val1465Leu)	ZNF236 (V1463L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375411	NM_001306089.2(ZNF236):c.310T>C (p.Phe104Leu)	ZNF236 (F104L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373663	NM_001306089.2(ZNF236):c.5009C>T (p.Ser1670Leu)	ZNF236 (S1670L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348914	NM_001306089.2(ZNF236):c.3013G>A (p.Gly1005Ser)	ZNF236 (G1003S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334122	NM_001306089.2(ZNF236):c.3302A>T (p.His1101Leu)	ZNF236 (H1099L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321138	NM_001306089.2(ZNF236):c.1268C>T (p.Ala423Val)	ZNF236 (A421V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319015	NM_001306089.2(ZNF236):c.1259A>G (p.Lys420Arg)	ZNF236 (K418R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317472	NM_001306089.2(ZNF236):c.5098G>T (p.Ala1700Ser)	ZNF236 (A1700S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316693	NM_001306089.2(ZNF236):c.4996C>A (p.Arg1666Ser)	ZNF236 (R1666S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313073	NM_001306089.2(ZNF236):c.3856C>T (p.Pro1286Ser)	ZNF236 (P1284S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310203	NM_001306089.2(ZNF236):c.2020C>T (p.Leu674Phe)	ZNF236 (L672F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301475	NM_001306089.2(ZNF236):c.3215T>C (p.Met1072Thr)	ZNF236 (M1072T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300609	NM_001306089.2(ZNF236):c.5320C>T (p.His1774Tyr)	ZNF236 (H1774Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292979	NM_001306089.2(ZNF236):c.3092A>G (p.Asn1031Ser)	ZNF236 (N1029S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2292626	NM_001306089.2(ZNF236):c.1766C>T (p.Ser589Phe)	ZNF236 (S589F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280390	NM_001306089.2(ZNF236):c.4045G>A (p.Val1349Met)	ZNF236 (V1349M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278053	NM_001306089.2(ZNF236):c.3010C>T (p.Arg1004Cys)	ZNF236 (R1002C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267628	NM_001306089.2(ZNF236):c.3449G>A (p.Arg1150His)	ZNF236 (R1148H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248860	NM_001306089.2(ZNF236):c.3181G>A (p.Gly1061Ser)	ZNF236 (G1061S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241128	NM_001306089.2(ZNF236):c.5402G>A (p.Arg1801Gln)	ZNF236 (R1801Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239328	NM_001306089.2(ZNF236):c.3923C>G (p.Pro1308Arg)	ZNF236 (P1308R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225693	NM_001306089.2(ZNF236):c.1862C>G (p.Pro621Arg)	ZNF236 (P621R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218984	NM_001306089.2(ZNF236):c.5311A>G (p.Met1771Val)	ZNF236 (M1771V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214950	NM_001306089.2(ZNF236):c.71T>G (p.Leu24Trp)	ZNF236 (L22W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208986	NM_001306089.2(ZNF236):c.743A>G (p.Lys248Arg)	ZNF236 (K248R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205863	NM_001306089.2(ZNF236):c.1313A>G (p.Gln438Arg)	ZNF236 (Q438R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808639	GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	ADNP2, ALPK2 +80 more	Copy number loss	not provided	GPathogenic
Select item 1807794	GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1	ADNP2, ATP9B +33 more	Copy number loss	not provided	GPathogenic
Select item 1807707	GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1	ADNP2, ATP9B +41 more	Copy number loss	not provided	GPathogenic
Select item 1712252	GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)x1	HSBP1L1, ADNP2 +18 more	Copy number loss	See cases	GPathogenic
Select item 1703624	GRCh37/hg19 18q21.33-23(chr18:61289055-78014123)	ADNP2, ATP9B +45 more	Copy number loss	Deletion of long arm of chromosome 18	GPathogenic

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