21711[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 59883	GRCh38/hg38 2q32.1(chr2:184482607-185243974)x1	LOC105373780, LOC105373782 +3 more	Copy number loss	See cases	GBenign
Select item 145833	GRCh38/hg38 2q32.1(chr2:184499992-185229822)x1	LOC105373780, LOC105373782 +3 more	Copy number loss	See cases	GLikely benign
Select item 2344033	NM_194250.2(ZNF804A):c.14A>G (p.Tyr5Cys)	LOC105373780, ZNF804A (Y5C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2460723	NM_194250.2(ZNF804A):c.16A>T (p.Ile6Phe)	LOC105373780, ZNF804A (I6F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3198510	NM_194250.2(ZNF804A):c.31A>T (p.Thr11Ser)	LOC105373780, ZNF804A (T11S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 545252	NC_000002.12:g.(?_184830819)_(184884225_?)del	ZNF804A	Deletion	Schizophrenia	GLikely pathogenic
Select item 2616547	NM_194250.2(ZNF804A):c.126G>T (p.Lys42Asn)	ZNF804A (K42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710899	NM_194250.2(ZNF804A):c.210G>A (p.Gln70=)	ZNF804A	Single nucleotide variant (synonymous variant)	ZNF804A-related disorder +1 more	GBenign/Likely benign
Select item 3040029	NM_194250.2(ZNF804A):c.371G>A (p.Arg124Lys)	ZNF804A (R124K)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GLikely benign
Select item 2223848	NM_194250.2(ZNF804A):c.433A>G (p.Arg145Gly)	ZNF804A (R145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259608	NM_194250.2(ZNF804A):c.453T>G (p.Ile151Met)	ZNF804A (I151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198514	NM_194250.2(ZNF804A):c.517A>T (p.Ser173Cys)	ZNF804A (S173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273989	NM_194250.2(ZNF804A):c.530C>T (p.Thr177Ile)	ZNF804A (T177I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039335	NM_194250.2(ZNF804A):c.532A>G (p.Lys178Glu)	ZNF804A (K178E)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GLikely benign
Select item 3198515	NM_194250.2(ZNF804A):c.599T>A (p.Val200Asp)	ZNF804A (V200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033697	NM_194250.2(ZNF804A):c.669C>A (p.Ser223=)	ZNF804A	Single nucleotide variant (synonymous variant)	ZNF804A-related disorder	GLikely benign
Select item 2251474	NM_194250.2(ZNF804A):c.730A>G (p.Lys244Glu)	ZNF804A (K244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198516	NM_194250.2(ZNF804A):c.770G>T (p.Cys257Phe)	ZNF804A (C257F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1221151	NM_194250.2(ZNF804A):c.782A>T (p.Gln261Leu)	ZNF804A (Q261L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2690470	NM_194250.2(ZNF804A):c.848C>A (p.Ala283Glu)	ZNF804A (A283E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3198517	NM_194250.2(ZNF804A):c.872T>C (p.Val291Ala)	ZNF804A (V291A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198518	NM_194250.2(ZNF804A):c.895G>A (p.Val299Ile)	ZNF804A (V299I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533319	NM_194250.2(ZNF804A):c.901A>T (p.Ser301Cys)	ZNF804A (S301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259617	NM_194250.2(ZNF804A):c.962A>T (p.Asp321Val)	ZNF804A (D321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041236	NM_194250.2(ZNF804A):c.974G>T (p.Cys325Phe)	ZNF804A (C325F)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GLikely benign
Select item 2484722	NM_194250.2(ZNF804A):c.977A>T (p.Gln326Leu)	ZNF804A (Q326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259612	NM_194250.2(ZNF804A):c.986T>C (p.Val329Ala)	ZNF804A (V329A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375593	NM_194250.2(ZNF804A):c.994G>C (p.Ala332Pro)	ZNF804A (A332P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259619	NM_194250.2(ZNF804A):c.1012G>C (p.Glu338Gln)	ZNF804A (E338Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274682	NM_194250.2(ZNF804A):c.1117C>A (p.Gln373Lys)	ZNF804A (Q373K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319287	NM_194250.2(ZNF804A):c.1150G>A (p.Glu384Lys)	ZNF804A (E384K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770510	NM_194250.2(ZNF804A):c.1188C>T (p.Pro396=)	ZNF804A	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2560991	NM_194250.2(ZNF804A):c.1220T>A (p.Val407Asp)	ZNF804A (V407D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2651740	NM_194250.2(ZNF804A):c.1225A>G (p.Ile409Val)	ZNF804A (I409V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2465357	NM_194250.2(ZNF804A):c.1357A>G (p.Ile453Val)	ZNF804A (I453V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354430	NM_194250.2(ZNF804A):c.1408A>G (p.Asn470Asp)	ZNF804A (N470D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055649	NM_194250.2(ZNF804A):c.1436A>G (p.Asp479Gly)	ZNF804A (D479G)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign
Select item 717267	NM_194250.2(ZNF804A):c.1473C>T (p.Asp491=)	ZNF804A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3055535	NM_194250.2(ZNF804A):c.1474A>G (p.Ile492Val)	ZNF804A (I492V)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign
Select item 781606	NM_194250.2(ZNF804A):c.1561A>T (p.Ser521Cys)	ZNF804A (S521C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3059275	NM_194250.2(ZNF804A):c.1624G>A (p.Glu542Lys)	ZNF804A (E542K)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign
Select item 2352164	NM_194250.2(ZNF804A):c.1631C>T (p.Thr544Ile)	ZNF804A (T544I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218863	NM_194250.2(ZNF804A):c.1633G>A (p.Gly545Ser)	ZNF804A (G545S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3060253	NM_194250.2(ZNF804A):c.1794A>G (p.Lys598=)	ZNF804A	Single nucleotide variant (synonymous variant)	ZNF804A-related disorder	GBenign
Select item 2349134	NM_194250.2(ZNF804A):c.1814A>T (p.His605Leu)	ZNF804A (H605L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198501	NM_194250.2(ZNF804A):c.1818T>A (p.His606Gln)	ZNF804A (H606Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713053	NM_194250.2(ZNF804A):c.1865C>G (p.Ala622Gly)	ZNF804A (A622G)	Single nucleotide variant (missense variant)	ZNF804A-related disorder +1 more	GBenign/Likely benign
Select item 2651741	NM_194250.2(ZNF804A):c.1965A>G (p.Leu655=)	ZNF804A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343774	NM_194250.2(ZNF804A):c.1966C>T (p.Leu656Phe)	ZNF804A (L656F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348607	NM_194250.2(ZNF804A):c.2031G>T (p.Trp677Cys)	ZNF804A (W677C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059400	NM_194250.2(ZNF804A):c.2120C>A (p.Thr707Lys)	ZNF804A (T707K)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign
Select item 3259616	NM_194250.2(ZNF804A):c.2192G>A (p.Ser731Asn)	ZNF804A (S731N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051837	NM_194250.2(ZNF804A):c.2275A>G (p.Asn759Asp)	ZNF804A (N759D)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign
Select item 2206965	NM_194250.2(ZNF804A):c.2309G>A (p.Arg770Gln)	ZNF804A (R770Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198502	NM_194250.2(ZNF804A):c.2349A>C (p.Glu783Asp)	ZNF804A (E783D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198504	NM_194250.2(ZNF804A):c.2357A>G (p.Asn786Ser)	ZNF804A (N786S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198505	NM_194250.2(ZNF804A):c.2368C>T (p.His790Tyr)	ZNF804A (H790Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2618325	NM_194250.2(ZNF804A):c.2398A>G (p.Ser800Gly)	ZNF804A (S800G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616159	NM_194250.2(ZNF804A):c.2507T>C (p.Val836Ala)	ZNF804A (V836A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198506	NM_194250.2(ZNF804A):c.2514C>A (p.Asp838Glu)	ZNF804A (D838E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198507	NM_194250.2(ZNF804A):c.2524T>G (p.Leu842Val)	ZNF804A (L842V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477400	NM_194250.2(ZNF804A):c.2612A>G (p.Gln871Arg)	ZNF804A (Q871R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521506	NM_194250.2(ZNF804A):c.2700G>A (p.Met900Ile)	ZNF804A (M900I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198508	NM_194250.2(ZNF804A):c.2728G>A (p.Val910Ile)	ZNF804A (V910I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3259609	NM_194250.2(ZNF804A):c.2746A>T (p.Thr916Ser)	ZNF804A (T916S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394920	NM_194250.2(ZNF804A):c.2789A>G (p.Asp930Gly)	ZNF804A (D930G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307658	NM_194250.2(ZNF804A):c.2812G>A (p.Glu938Lys)	ZNF804A (E938K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198509	NM_194250.2(ZNF804A):c.2886A>T (p.Arg962Ser)	ZNF804A (R962S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259613	NM_194250.2(ZNF804A):c.2938C>G (p.Pro980Ala)	ZNF804A (P980A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048266	NM_194250.2(ZNF804A):c.2943del (p.Gly982fs)	ZNF804A (G982fs)	Deletion (frameshift variant)	ZNF804A-related disorder	GUncertain significance
Select item 3259615	NM_194250.2(ZNF804A):c.2963C>A (p.Pro988Gln)	ZNF804A (P988Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710900	NM_194250.2(ZNF804A):c.3009A>T (p.Pro1003=)	ZNF804A	Single nucleotide variant (synonymous variant)	ZNF804A-related disorder +1 more	GBenign/Likely benign
Select item 2552140	NM_194250.2(ZNF804A):c.3034G>C (p.Val1012Leu)	ZNF804A (V1012L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050775	NM_194250.2(ZNF804A):c.3037A>T (p.Ser1013Cys)	ZNF804A (S1013C)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GLikely benign
Select item 3259606	NM_194250.2(ZNF804A):c.3044A>T (p.His1015Leu)	ZNF804A (H1015L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600887	NM_194250.2(ZNF804A):c.3056C>A (p.Thr1019Lys)	ZNF804A (T1019K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261215	NM_194250.2(ZNF804A):c.3129A>C (p.Lys1043Asn)	ZNF804A (K1043N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297249	NM_194250.2(ZNF804A):c.3184G>A (p.Ala1062Thr)	ZNF804A (A1062T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259610	NM_194250.2(ZNF804A):c.3190A>C (p.Lys1064Gln)	ZNF804A (K1064Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198511	NM_194250.2(ZNF804A):c.3217G>C (p.Ala1073Pro)	ZNF804A (A1073P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588793	NM_194250.2(ZNF804A):c.3229C>G (p.Pro1077Ala)	ZNF804A (P1077A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280392	NM_194250.2(ZNF804A):c.3241C>G (p.Leu1081Val)	ZNF804A (L1081V)	Single nucleotide variant (missense variant)	ZNF804A-related disorder +1 more	GBenign
Select item 2548744	NM_194250.2(ZNF804A):c.3266C>G (p.Ser1089Cys)	ZNF804A (S1089C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259614	NM_194250.2(ZNF804A):c.3271T>A (p.Cys1091Ser)	ZNF804A (C1091S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259611	NM_194250.2(ZNF804A):c.3272G>A (p.Cys1091Tyr)	ZNF804A (C1091Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198512	NM_194250.2(ZNF804A):c.3290C>T (p.Thr1097Ile)	ZNF804A (T1097I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468039	NM_194250.2(ZNF804A):c.3319G>A (p.Ala1107Thr)	ZNF804A (A1107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037628	NM_194250.2(ZNF804A):c.3322G>A (p.Ala1108Thr)	ZNF804A (A1108T)	Single nucleotide variant (missense variant)	ZNF804A-related disorder	GBenign

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