ClinVar for Gene (Select 23060) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258900	NM_015042.2(ZNF609):c.2938G>T (p.Val980Leu)	ZNF609 (V980L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258899	NM_015042.2(ZNF609):c.3518G>A (p.Arg1173Gln)	ZNF609 (R1173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258898	NM_015042.2(ZNF609):c.2468C>G (p.Thr823Ser)	ZNF609 (T823S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258897	NM_015042.2(ZNF609):c.1120C>T (p.Arg374Cys)	ZNF609 (R374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258896	NM_015042.2(ZNF609):c.48C>G (p.Asn16Lys)	ZNF609 (N16K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258895	NM_015042.2(ZNF609):c.2201A>G (p.Lys734Arg)	ZNF609 (K734R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258894	NM_015042.2(ZNF609):c.3149T>C (p.Leu1050Pro)	ZNF609 (L1050P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258893	NM_015042.2(ZNF609):c.2876C>T (p.Ser959Leu)	ZNF609 (S959L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258892	NM_015042.2(ZNF609):c.795G>T (p.Leu265Phe)	ZNF609 (L265F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258890	NM_015042.2(ZNF609):c.2140C>A (p.Pro714Thr)	ZNF609 (P714T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197173	NM_015042.2(ZNF609):c.809A>T (p.Asn270Ile)	ZNF609 (N270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197172	NM_015042.2(ZNF609):c.767C>T (p.Thr256Ile)	ZNF609 (T256I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197171	NM_015042.2(ZNF609):c.740C>T (p.Ser247Phe)	ZNF609 (S247F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197170	NM_015042.2(ZNF609):c.463G>A (p.Gly155Ser)	ZNF609 (G155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197169	NM_015042.2(ZNF609):c.4051G>A (p.Val1351Ile)	ZNF609 (V1351I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197168	NM_015042.2(ZNF609):c.3998G>A (p.Gly1333Glu)	ZNF609 (G1333E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197167	NM_015042.2(ZNF609):c.3623C>G (p.Pro1208Arg)	ZNF609 (P1208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197166	NM_015042.2(ZNF609):c.3620G>A (p.Arg1207Gln)	ZNF609 (R1207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197164	NM_015042.2(ZNF609):c.2945C>A (p.Pro982His)	ZNF609 (P982H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197163	NM_015042.2(ZNF609):c.2825A>G (p.Asp942Gly)	ZNF609 (D942G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197162	NM_015042.2(ZNF609):c.278G>A (p.Ser93Asn)	ZNF609 (S93N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197161	NM_015042.2(ZNF609):c.274A>G (p.Arg92Gly)	ZNF609 (R92G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197160	NM_015042.2(ZNF609):c.2578G>T (p.Asp860Tyr)	ZNF609 (D860Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197159	NM_015042.2(ZNF609):c.2522A>G (p.Asn841Ser)	ZNF609 (N841S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197158	NM_015042.2(ZNF609):c.2449A>G (p.Thr817Ala)	ZNF609 (T817A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197157	NM_015042.2(ZNF609):c.1982C>T (p.Pro661Leu)	ZNF609 (P661L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197156	NM_015042.2(ZNF609):c.1738T>A (p.Ser580Thr)	ZNF609 (S580T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197153	NM_015042.2(ZNF609):c.1342A>G (p.Met448Val)	ZNF609 (M448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197152	NM_015042.2(ZNF609):c.1264C>A (p.Pro422Thr)	ZNF609 (P422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611476	NM_015042.2(ZNF609):c.1819G>T (p.Asp607Tyr)	ZNF609 (D607Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591194	NM_015042.2(ZNF609):c.3055C>T (p.Arg1019Trp)	ZNF609 (R1019W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569307	NM_015042.2(ZNF609):c.2132T>C (p.Met711Thr)	ZNF609 (M711T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565622	NM_015042.2(ZNF609):c.389A>G (p.Asn130Ser)	ZNF609 (N130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551024	NM_015042.2(ZNF609):c.3568G>A (p.Asp1190Asn)	ZNF609 (D1190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548828	NM_015042.2(ZNF609):c.2899A>G (p.Met967Val)	ZNF609 (M967V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529543	NM_015042.2(ZNF609):c.2351G>T (p.Arg784Leu)	ZNF609 (R784L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524762	NM_015042.2(ZNF609):c.3460T>G (p.Ser1154Ala)	ZNF609 (S1154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520255	NM_015042.2(ZNF609):c.1874A>G (p.Asp625Gly)	ZNF609 (D625G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518923	NM_015042.2(ZNF609):c.1709G>A (p.Arg570Gln)	ZNF609 (R570Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518069	NM_015042.2(ZNF609):c.1994C>A (p.Pro665Gln)	ZNF609 (P665Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513302	NM_015042.2(ZNF609):c.3245A>C (p.Lys1082Thr)	ZNF609 (K1082T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490209	NM_015042.2(ZNF609):c.1292A>G (p.Lys431Arg)	ZNF609 (K431R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489934	NM_015042.2(ZNF609):c.3734G>A (p.Arg1245Gln)	ZNF609 (R1245Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482972	NM_015042.2(ZNF609):c.3032G>A (p.Arg1011His)	ZNF609 (R1011H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481259	NM_015042.2(ZNF609):c.1822G>A (p.Gly608Ser)	ZNF609 (G608S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475491	NM_015042.2(ZNF609):c.4066A>G (p.Thr1356Ala)	ZNF609 (T1356A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474896	NM_015042.2(ZNF609):c.1714G>A (p.Val572Ile)	ZNF609 (V572I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460578	NM_015042.2(ZNF609):c.1862A>G (p.Asn621Ser)	ZNF609 (N621S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412397	NM_015042.2(ZNF609):c.1970G>A (p.Arg657His)	ZNF609 (R657H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401935	NM_015042.2(ZNF609):c.4063C>T (p.Arg1355Cys)	ZNF609 (R1355C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397509	NM_015042.2(ZNF609):c.3682A>G (p.Met1228Val)	ZNF609 (M1228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397458	NM_015042.2(ZNF609):c.715T>C (p.Cys239Arg)	ZNF609 (C239R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393569	NM_015042.2(ZNF609):c.3154A>G (p.Lys1052Glu)	ZNF609 (K1052E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392041	NM_015042.2(ZNF609):c.868A>G (p.Asn290Asp)	ZNF609 (N290D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382237	NM_015042.2(ZNF609):c.860T>C (p.Val287Ala)	ZNF609 (V287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377451	NM_015042.2(ZNF609):c.2281A>G (p.Arg761Gly)	ZNF609 (R761G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373766	NM_015042.2(ZNF609):c.4145A>G (p.Asn1382Ser)	ZNF609 (N1382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365177	NM_015042.2(ZNF609):c.718C>T (p.Arg240Cys)	ZNF609 (R240C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363148	NM_015042.2(ZNF609):c.2345A>G (p.Gln782Arg)	ZNF609 (Q782R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350327	NM_015042.2(ZNF609):c.1262C>T (p.Pro421Leu)	ZNF609 (P421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345110	NM_015042.2(ZNF609):c.4021G>A (p.Val1341Ile)	ZNF609 (V1341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341698	NM_015042.2(ZNF609):c.1868C>G (p.Ala623Gly)	ZNF609 (A623G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332966	NM_015042.2(ZNF609):c.1882G>C (p.Glu628Gln)	ZNF609 (E628Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315611	NM_015042.2(ZNF609):c.2420T>C (p.Ile807Thr)	ZNF609 (I807T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312706	NM_015042.2(ZNF609):c.2362A>G (p.Ile788Val)	ZNF609 (I788V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309831	NM_015042.2(ZNF609):c.335G>C (p.Ser112Thr)	ZNF609 (S112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309519	NM_015042.2(ZNF609):c.121G>A (p.Asp41Asn)	ZNF609 (D41N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303891	NM_015042.2(ZNF609):c.46A>C (p.Asn16His)	ZNF609 (N16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302484	NM_015042.2(ZNF609):c.3456C>G (p.Ile1152Met)	ZNF609 (I1152M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299055	NM_015042.2(ZNF609):c.2803A>G (p.Ile935Val)	ZNF609 (I935V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290301	NM_015042.2(ZNF609):c.2486C>G (p.Thr829Ser)	ZNF609 (T829S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281439	NM_015042.2(ZNF609):c.4040G>T (p.Gly1347Val)	ZNF609 (G1347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274775	NM_015042.2(ZNF609):c.62A>G (p.Tyr21Cys)	ZNF609 (Y21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263766	NM_015042.2(ZNF609):c.2764C>G (p.Gln922Glu)	ZNF609 (Q922E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260782	NM_015042.2(ZNF609):c.1969C>T (p.Arg657Cys)	ZNF609 (R657C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256317	NM_015042.2(ZNF609):c.3280C>T (p.Pro1094Ser)	ZNF609 (P1094S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248374	NM_015042.2(ZNF609):c.4036G>A (p.Gly1346Arg)	ZNF609 (G1346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248221	NM_015042.2(ZNF609):c.4108C>T (p.His1370Tyr)	ZNF609 (H1370Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247165	NM_015042.2(ZNF609):c.1477G>A (p.Val493Ile)	ZNF609 (V493I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238906	NM_015042.2(ZNF609):c.3517C>T (p.Arg1173Trp)	ZNF609 (R1173W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237948	NM_015042.2(ZNF609):c.3944C>T (p.Thr1315Met)	ZNF609 (T1315M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235638	NM_015042.2(ZNF609):c.2806G>A (p.Glu936Lys)	ZNF609 (E936K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228088	NM_015042.2(ZNF609):c.3349G>A (p.Gly1117Ser)	ZNF609 (G1117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226182	NM_015042.2(ZNF609):c.2996C>T (p.Thr999Met)	ZNF609 (T999M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223906	NM_015042.2(ZNF609):c.2836G>C (p.Glu946Gln)	ZNF609 (E946Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219738	NM_015042.2(ZNF609):c.437C>T (p.Ala146Val)	ZNF609 (A146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299442	NM_015042.2(ZNF609):c.4081C>T (p.Arg1361Cys)	ZNF609 (R1361C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980529	GRCh37/hg19 15q22.31(chr15:64705736-65178188)x3	TRIP4, OAZ2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 787959	NM_015042.2(ZNF609):c.3219C>T (p.Asp1073=)	ZNF609	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781295	NM_015042.2(ZNF609):c.4068C>T (p.Thr1356=)	ZNF609	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771474	NM_015042.2(ZNF609):c.3777C>T (p.Tyr1259=)	ZNF609	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 754765	NM_015042.2(ZNF609):c.2913C>G (p.Ser971=)	ZNF609	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718570	NM_015042.2(ZNF609):c.424G>T (p.Gly142Cys)	ZNF609 (G142C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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