ZNF219[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150080	GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3	ARHGEF40, CHD8 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58305	GRCh38/hg38 14q11.2(chr14:21058251-21384204)x3	ARHGEF40, HNRNPC +17 more	Copy number gain	See cases	GUncertain significance
Select item 3194447	NM_016423.3(ZNF219):c.2117G>T (p.Gly706Val)	ZNF219 (G706V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335158	NM_016423.3(ZNF219):c.2095C>T (p.Pro699Ser)	ZNF219 (P699S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194446	NM_016423.3(ZNF219):c.2014C>T (p.Arg672Trp)	ZNF219 (R672W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335154	NM_016423.3(ZNF219):c.1861G>A (p.Gly621Ser)	ZNF219 (G621S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194445	NM_016423.3(ZNF219):c.1817G>C (p.Arg606Pro)	ZNF219 (R606P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335152	NM_016423.3(ZNF219):c.1771G>A (p.Ala591Thr)	ZNF219 (A591T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2261493	NM_016423.3(ZNF219):c.1744C>T (p.Pro582Ser)	ZNF219 (P582S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194443	NM_016423.3(ZNF219):c.1718C>T (p.Ala573Val)	ZNF219 (A573V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194442	NM_016423.3(ZNF219):c.1690C>T (p.Pro564Ser)	ZNF219 (P564S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317239	NM_016423.3(ZNF219):c.1669G>A (p.Gly557Ser)	ZNF219 (G557S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644056	NM_016423.3(ZNF219):c.1623C>G (p.Leu541=)	ZNF219	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2275410	NM_016423.3(ZNF219):c.1470A>C (p.Glu490Asp)	ZNF219 (E490D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611560	NM_016423.3(ZNF219):c.1411G>T (p.Ala471Ser)	ZNF219 (A471S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611559	NM_016423.3(ZNF219):c.1410G>T (p.Gln470His)	ZNF219 (Q470H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493896	NM_016423.3(ZNF219):c.1400C>T (p.Ala467Val)	ZNF219 (A467V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523713	NM_016423.3(ZNF219):c.1382G>A (p.Gly461Glu)	ZNF219 (G461E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239545	NM_016423.3(ZNF219):c.1336C>A (p.Leu446Met)	ZNF219 (L446M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300348	NM_016423.3(ZNF219):c.1328G>T (p.Gly443Val)	ZNF219 (G443V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224347	NM_016423.3(ZNF219):c.1292A>T (p.Glu431Val)	ZNF219 (E431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510517	NM_016423.3(ZNF219):c.1276C>A (p.Pro426Thr)	ZNF219 (P426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335151	NM_016423.3(ZNF219):c.1268C>T (p.Ala423Val)	ZNF219 (A423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320124	NM_016423.3(ZNF219):c.1244C>T (p.Pro415Leu)	ZNF219 (P415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540631	NM_016423.3(ZNF219):c.1238C>T (p.Ala413Val)	ZNF219 (A413V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335153	NM_016423.3(ZNF219):c.1201G>C (p.Gly401Arg)	ZNF219 (G401R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236024	NM_016423.3(ZNF219):c.1171C>T (p.Pro391Ser)	ZNF219 (P391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557316	NM_016423.3(ZNF219):c.1165G>T (p.Gly389Cys)	ZNF219 (G389C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194439	NM_016423.3(ZNF219):c.1163A>G (p.Glu388Gly)	ZNF219 (E388G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402815	NM_016423.3(ZNF219):c.1102A>C (p.Thr368Pro)	ZNF219 (T368P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315243	NM_016423.3(ZNF219):c.1048G>T (p.Gly350Cys)	ZNF219 (G350C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519862	NM_016423.3(ZNF219):c.1028C>T (p.Ala343Val)	ZNF219 (A343V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621101	NM_016423.3(ZNF219):c.995G>A (p.Arg332His)	ZNF219 (R332H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194456	NM_016423.3(ZNF219):c.992T>A (p.Leu331Gln)	ZNF219 (L331Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194454	NM_016423.3(ZNF219):c.973G>A (p.Ala325Thr)	ZNF219 (A325T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550253	NM_016423.3(ZNF219):c.908C>T (p.Ala303Val)	ZNF219 (A303V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194453	NM_016423.3(ZNF219):c.782C>G (p.Ala261Gly)	ZNF219 (A261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487850	NM_016423.3(ZNF219):c.749C>T (p.Pro250Leu)	ZNF219 (P250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194452	NM_016423.3(ZNF219):c.730C>T (p.Pro244Ser)	ZNF219 (P244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388098	NM_016423.3(ZNF219):c.686A>C (p.Gln229Pro)	LOC130055281, ZNF219 (Q229P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365610	NM_016423.3(ZNF219):c.655C>A (p.Leu219Met)	LOC130055281, ZNF219 (L219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335157	NM_016423.3(ZNF219):c.469G>T (p.Ala157Ser)	ZNF219 (A157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328142	NM_016423.3(ZNF219):c.458C>T (p.Ala153Val)	ZNF219 (A153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335155	NM_016423.3(ZNF219):c.454C>A (p.Leu152Met)	ZNF219 (L152M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291926	NM_016423.3(ZNF219):c.443C>T (p.Ala148Val)	ZNF219 (A148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243070	NM_016423.3(ZNF219):c.433G>C (p.Ala145Pro)	ZNF219 (A145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194450	NM_016423.3(ZNF219):c.417C>A (p.Ser139Arg)	ZNF219 (S139R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194449	NM_016423.3(ZNF219):c.401T>C (p.Leu134Pro)	ZNF219 (L134P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529331	NM_016423.3(ZNF219):c.360G>T (p.Leu120Phe)	LOC124958012, ZNF219 (L120F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194448	NM_016423.3(ZNF219):c.302G>A (p.Arg101His)	LOC124958012, ZNF219 (R101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314121	NM_016423.3(ZNF219):c.217G>A (p.Ala73Thr)	LOC124958012, ZNF219 (A73T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527167	NM_016423.3(ZNF219):c.187G>C (p.Gly63Arg)	LOC124958012, ZNF219 (G63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380910	NM_016423.3(ZNF219):c.112G>C (p.Gly38Arg)	LOC124958012, ZNF219 (G38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335156	NM_016423.3(ZNF219):c.88T>A (p.Ser30Thr)	LOC124958012, ZNF219 (S30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91993	NM_016423.3(ZNF219):c.60C>T (p.Phe20=)	ZNF219	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2289097	NM_001395467.1(TMEM253):c.8A>G (p.Asp3Gly)	TMEM253, ZNF219 (D3G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2352252	NM_001395467.1(TMEM253):c.25G>C (p.Glu9Gln)	TMEM253, ZNF219 (E9Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2536788	NM_001395467.1(TMEM253):c.46C>T (p.Arg16Cys)	TMEM253, ZNF219 (R16C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2603178	NM_001395467.1(TMEM253):c.55A>G (p.Lys19Glu)	TMEM253, ZNF219 (K19E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2351667	NM_001395467.1(TMEM253):c.139G>A (p.Val47Met)	TMEM253, ZNF219 (V47M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3179298	NM_001395467.1(TMEM253):c.206G>T (p.Gly69Val)	TMEM253, ZNF219 (G69V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2223609	NM_001395467.1(TMEM253):c.238G>A (p.Val80Ile)	TMEM253, ZNF219 (V43I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3179299	NM_001395467.1(TMEM253):c.281G>A (p.Arg94Gln)	TMEM253, ZNF219 (R94Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2255727	NM_001395467.1(TMEM253):c.301A>T (p.Thr101Ser)	TMEM253, ZNF219 (T64S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373887	NM_001395467.1(TMEM253):c.318G>T (p.Leu106Phe)	TMEM253, ZNF219 (L106F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179300	NM_001395467.1(TMEM253):c.340G>A (p.Glu114Lys)	TMEM253, ZNF219 (E114K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266848	NM_001395467.1(TMEM253):c.373A>G (p.Thr125Ala)	TMEM253, ZNF219 (T88A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601468	NM_001395467.1(TMEM253):c.390T>A (p.His130Gln)	TMEM253, ZNF219 (H93Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179301	NM_001395467.1(TMEM253):c.430A>T (p.Thr144Ser)	TMEM253, ZNF219 (T107S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234712	NM_001395467.1(TMEM253):c.457C>T (p.His153Tyr)	TMEM253, ZNF219 (H116Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2548489	NM_001395467.1(TMEM253):c.484A>G (p.Lys162Glu)	TMEM253, ZNF219 (K125E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405442	NM_001395467.1(TMEM253):c.592A>C (p.Thr198Pro)	TMEM253, ZNF219 (T103P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179302	NM_001395467.1(TMEM253):c.604G>A (p.Glu202Lys)	TMEM253, ZNF219 (E165K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225547	NM_001395467.1(TMEM253):c.614G>A (p.Gly205Glu)	TMEM253, ZNF219 (G205E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516198	NM_001395467.1(TMEM253):c.616C>G (p.Gln206Glu)	TMEM253, ZNF219 (Q111E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 1809420	GRCh37/hg19 14q11.2(chr14:21496133-21962265)x3	ARHGEF40, CHD8 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1807993	GRCh37/hg19 14q11.2(chr14:21349608-21618292)x3	ARHGEF40, METTL17 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527802	GRCh37/hg19 14q11.2(chr14:21451544-21962317)	ARHGEF40, CHD8 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided

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