ClinVar for Gene (Select 23217) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3193335	NM_015174.2(ZFR2):c.976G>A (p.Val326Met)	ZFR2 (V326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193334	NM_015174.2(ZFR2):c.950C>T (p.Ala317Val)	ZFR2 (A317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193333	NM_015174.2(ZFR2):c.884A>C (p.His295Pro)	ZFR2 (H295P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193332	NM_015174.2(ZFR2):c.860G>A (p.Arg287Gln)	ZFR2 (R287Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193331	NM_015174.2(ZFR2):c.581C>T (p.Thr194Ile)	ZFR2 (T194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193330	NM_015174.2(ZFR2):c.563C>T (p.Pro188Leu)	ZFR2 (P188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193329	NM_015174.2(ZFR2):c.527C>A (p.Pro176His)	ZFR2 (P176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193328	NM_015174.2(ZFR2):c.2803G>A (p.Gly935Arg)	ZFR2 (G935R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193327	NM_015174.2(ZFR2):c.245C>T (p.Thr82Ile)	ZFR2 (T82I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193326	NM_015174.2(ZFR2):c.2309C>A (p.Ala770Asp)	ZFR2 (A770D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193325	NM_015174.2(ZFR2):c.2269G>A (p.Gly757Ser)	ZFR2 (G757S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193324	NM_015174.2(ZFR2):c.2200G>A (p.Val734Ile)	ZFR2 (V734I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193323	NM_015174.2(ZFR2):c.2135C>T (p.Ser712Phe)	ZFR2 (S712F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193322	NM_015174.2(ZFR2):c.2126A>C (p.Glu709Ala)	ZFR2 (E709A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193321	NM_015174.2(ZFR2):c.1876G>A (p.Asp626Asn)	ZFR2 (D626N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193320	NM_015174.2(ZFR2):c.1828G>A (p.Val610Met)	ZFR2 (V610M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193319	NM_015174.2(ZFR2):c.1744G>A (p.Gly582Arg)	ZFR2 (G582R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193318	NM_015174.2(ZFR2):c.1655A>C (p.Gln552Pro)	ZFR2 (Q552P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193317	NM_015174.2(ZFR2):c.1567A>G (p.Arg523Gly)	ZFR2 (R523G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193316	NM_015174.2(ZFR2):c.1051G>A (p.Ala351Thr)	ZFR2 (A351T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 3062379	GRCh37/hg19 19p13.3(chr19:3794098-4036681)x1	ATCAY, DAPK3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2649016	NM_015174.2(ZFR2):c.53+13546G>A	ZFR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2649015	NM_015174.2(ZFR2):c.318G>A (p.Pro106=)	ZFR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649014	NM_015174.2(ZFR2):c.1341G>A (p.Ala447=)	ZFR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649013	NM_015174.2(ZFR2):c.1755G>A (p.Pro585=)	ZFR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612936	NM_015174.2(ZFR2):c.2219G>A (p.Arg740Gln)	ZFR2 (R740Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607063	NM_015174.2(ZFR2):c.268A>C (p.Ser90Arg)	ZFR2 (S90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604704	NM_015174.2(ZFR2):c.1837G>T (p.Ala613Ser)	ZFR2 (A613S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601023	NM_015174.2(ZFR2):c.2815G>A (p.Val939Met)	ZFR2 (V939M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592723	NM_015174.2(ZFR2):c.2095C>G (p.Gln699Glu)	ZFR2 (Q699E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592722	NM_015174.2(ZFR2):c.1145C>T (p.Pro382Leu)	ZFR2 (P382L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591794	NM_015174.2(ZFR2):c.1634G>A (p.Arg545Gln)	ZFR2 (R545Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588782	NM_015174.2(ZFR2):c.440C>T (p.Pro147Leu)	ZFR2 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569741	NM_015174.2(ZFR2):c.1888G>A (p.Glu630Lys)	ZFR2 (E630K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555321	NM_015174.2(ZFR2):c.820G>A (p.Asp274Asn)	ZFR2 (D274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553046	NM_015174.2(ZFR2):c.2815G>T (p.Val939Leu)	ZFR2 (V939L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540220	NM_015174.2(ZFR2):c.1693C>T (p.Pro565Ser)	ZFR2 (P565S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537980	NM_015174.2(ZFR2):c.1661T>G (p.Val554Gly)	ZFR2 (V554G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525080	NM_015174.2(ZFR2):c.758C>A (p.Pro253Gln)	ZFR2 (P253Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524051	NM_015174.2(ZFR2):c.1840G>A (p.Val614Met)	ZFR2 (V614M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523926	NM_015174.2(ZFR2):c.2672A>C (p.Gln891Pro)	ZFR2 (Q891P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523054	NM_015174.2(ZFR2):c.1747C>T (p.Arg583Trp)	ZFR2 (R583W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492110	NM_015174.2(ZFR2):c.616T>A (p.Tyr206Asn)	ZFR2 (Y206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469284	NM_015174.2(ZFR2):c.1003G>A (p.Ala335Thr)	ZFR2 (A335T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468741	NM_015174.2(ZFR2):c.1303G>A (p.Gly435Arg)	ZFR2 (G435R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466351	NM_015174.2(ZFR2):c.2117A>G (p.Asp706Gly)	ZFR2 (D706G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465736	NM_015174.2(ZFR2):c.1664C>T (p.Pro555Leu)	ZFR2 (P555L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461429	NM_015174.2(ZFR2):c.2648C>T (p.Ala883Val)	ZFR2 (A883V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458787	NM_015174.2(ZFR2):c.1435G>C (p.Asp479His)	ZFR2 (D479H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456433	NM_015174.2(ZFR2):c.2311G>A (p.Ala771Thr)	ZFR2 (A771T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456185	NM_015174.2(ZFR2):c.2669G>A (p.Arg890Gln)	ZFR2 (R890Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ARID3A, ARRDC5 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2404901	NM_015174.2(ZFR2):c.2750G>A (p.Gly917Glu)	ZFR2 (G917E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397457	NM_015174.2(ZFR2):c.2705C>T (p.Pro902Leu)	ZFR2 (P902L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394386	NM_015174.2(ZFR2):c.2218C>T (p.Arg740Trp)	ZFR2 (R740W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390245	NM_015174.2(ZFR2):c.2176C>T (p.Pro726Ser)	ZFR2 (P726S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389461	NM_015174.2(ZFR2):c.676C>A (p.Pro226Thr)	ZFR2 (P226T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388193	NM_015174.2(ZFR2):c.1420G>A (p.Glu474Lys)	ZFR2 (E474K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378586	NM_015174.2(ZFR2):c.1433A>G (p.Asn478Ser)	ZFR2 (N478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373644	NM_015174.2(ZFR2):c.2299G>C (p.Glu767Gln)	ZFR2 (E767Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372398	NM_015174.2(ZFR2):c.2365G>A (p.Val789Met)	ZFR2 (V789M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372193	NM_015174.2(ZFR2):c.940G>A (p.Gly314Arg)	ZFR2 (G314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364992	NM_015174.2(ZFR2):c.2786A>C (p.Lys929Thr)	ZFR2 (K929T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359185	NM_015174.2(ZFR2):c.198G>T (p.Gln66His)	ZFR2 (Q66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357719	NM_015174.2(ZFR2):c.2032C>A (p.Leu678Met)	ZFR2 (L678M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353290	NM_015174.2(ZFR2):c.899C>T (p.Ala300Val)	ZFR2 (A300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351882	NM_015174.2(ZFR2):c.2411C>T (p.Thr804Ile)	ZFR2 (T804I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351566	NM_015174.2(ZFR2):c.854C>T (p.Thr285Ile)	ZFR2 (T285I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349557	NM_015174.2(ZFR2):c.1633C>T (p.Arg545Trp)	ZFR2 (R545W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348853	NM_015174.2(ZFR2):c.370G>A (p.Gly124Ser)	ZFR2 (G124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343799	NM_015174.2(ZFR2):c.745G>A (p.Asp249Asn)	ZFR2 (D249N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342491	NM_015174.2(ZFR2):c.520G>A (p.Val174Ile)	ZFR2 (V174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338721	NM_015174.2(ZFR2):c.2404G>T (p.Val802Leu)	ZFR2 (V802L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338216	NM_015174.2(ZFR2):c.2612A>C (p.Gln871Pro)	ZFR2 (Q871P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336753	NM_015174.2(ZFR2):c.1415T>C (p.Leu472Pro)	ZFR2 (L472P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334189	NM_015174.2(ZFR2):c.140C>T (p.Pro47Leu)	ZFR2 (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324445	NM_015174.2(ZFR2):c.1581C>G (p.His527Gln)	ZFR2 (H527Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2320509	NM_015174.2(ZFR2):c.1318G>A (p.Ala440Thr)	ZFR2 (A440T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318981	NM_015174.2(ZFR2):c.2077G>A (p.Ala693Thr)	ZFR2 (A693T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300535	NM_015174.2(ZFR2):c.815A>G (p.Tyr272Cys)	ZFR2 (Y272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284984	NM_015174.2(ZFR2):c.521T>C (p.Val174Ala)	ZFR2 (V174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272763	NM_015174.2(ZFR2):c.2020G>A (p.Val674Met)	ZFR2 (V674M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270951	NM_015174.2(ZFR2):c.1498G>A (p.Val500Met)	ZFR2 (V500M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266126	NM_015174.2(ZFR2):c.151C>T (p.Pro51Ser)	ZFR2 (P51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264208	NM_015174.2(ZFR2):c.1474C>T (p.His492Tyr)	ZFR2 (H492Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254481	NM_015174.2(ZFR2):c.1609C>T (p.Arg537Trp)	ZFR2 (R537W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249102	NM_015174.2(ZFR2):c.2729G>A (p.Arg910His)	ZFR2 (R910H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241668	NM_015174.2(ZFR2):c.1759T>A (p.Ser587Thr)	ZFR2 (S587T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229920	NM_015174.2(ZFR2):c.211G>A (p.Gly71Ser)	ZFR2 (G71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208475	NM_015174.2(ZFR2):c.350G>A (p.Arg117His)	ZFR2 (R117H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205237	NM_015174.2(ZFR2):c.2342G>A (p.Arg781Gln)	ZFR2 (R781Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205111	NM_015174.2(ZFR2):c.1936G>A (p.Val646Ile)	ZFR2 (V646I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340292	GRCh37/hg19 19p13.3(chr19:3788725-4225547)x1	ANKRD24, ATCAY +10 more	Copy number loss	not provided	GUncertain significance
Select item 1037962	NC_000019.9:g.(?_3762699)_(3808981_?)del	MATK, MRPL54 +2 more	Deletion	not provided	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686923	GRCh37/hg19 19p13.3(chr19:3132909-3907470)x3	APBA3, ATCAY +20 more	Copy number gain	not provided	GUncertain significance

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