ZGRF1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 158

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 2500791	NC_000004.12:g.110650730_112833790del	ALPK1, ANK2 +55 more	Deletion	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 267201	NC_000004.10:g.111994000_115504000del3510001	LOC129992968, LOC129992986 +77 more	Deletion	Congenital aniridia	GPathogenic
Select item 145621	GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	ALPK1, ANK2 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 3334660	NM_018392.5(ZGRF1):c.6221A>G (p.Asn2074Ser)	NEUROG2-AS1, ZGRF1 (N2074S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555385	NM_018392.5(ZGRF1):c.6134A>G (p.Lys2045Arg)	NEUROG2-AS1, ZGRF1 (K1987R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302205	NM_018392.5(ZGRF1):c.6071A>G (p.Asn2024Ser)	NEUROG2-AS1, ZGRF1 (N2024S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193509	NM_018392.5(ZGRF1):c.6051T>G (p.Ile2017Met)	NEUROG2-AS1, ZGRF1 (I2017M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292139	NM_018392.5(ZGRF1):c.6046T>G (p.Phe2016Val)	NEUROG2-AS1, ZGRF1 (F1958V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334671	NM_018392.5(ZGRF1):c.5953A>G (p.Ile1985Val)	NEUROG2-AS1, ZGRF1 (I1927V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311445	NM_018392.5(ZGRF1):c.5918A>G (p.His1973Arg)	NEUROG2-AS1, ZGRF1 (H1973R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193507	NM_018392.5(ZGRF1):c.5816C>T (p.Thr1939Met)	NEUROG2-AS1, ZGRF1 (T1881M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338059	NM_018392.5(ZGRF1):c.5792G>A (p.Ser1931Asn)	NEUROG2-AS1, ZGRF1 (S1931N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605862	NM_018392.5(ZGRF1):c.5788A>G (p.Asn1930Asp)	NEUROG2-AS1, ZGRF1 (N1872D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193505	NM_018392.5(ZGRF1):c.5777T>C (p.Ile1926Thr)	NEUROG2-AS1, ZGRF1 (I1868T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193504	NM_018392.5(ZGRF1):c.5632C>T (p.Arg1878Cys)	NEUROG2-AS1, ZGRF1 (R1820C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193503	NM_018392.5(ZGRF1):c.5611A>G (p.Ile1871Val)	NEUROG2-AS1, ZGRF1 (I1813V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193502	NM_018392.5(ZGRF1):c.5609C>T (p.Pro1870Leu)	NEUROG2-AS1, ZGRF1 (P1812L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193501	NM_018392.5(ZGRF1):c.5516A>G (p.Gln1839Arg)	ZGRF1 (Q1781R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265388	NM_018392.5(ZGRF1):c.5506G>A (p.Asp1836Asn)	ZGRF1 (D1778N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248388	NM_018392.5(ZGRF1):c.5456C>T (p.Ser1819Phe)	ZGRF1 (S1819F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271876	NM_018392.5(ZGRF1):c.5392A>G (p.Met1798Val)	ZGRF1 (M1798V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412583	NM_018392.5(ZGRF1):c.5288A>G (p.Tyr1763Cys)	ZGRF1 (Y1705C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334662	NM_018392.5(ZGRF1):c.5170A>C (p.Lys1724Gln)	ZGRF1 (K1724Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286416	NM_018392.5(ZGRF1):c.5147T>G (p.Phe1716Cys)	ZGRF1 (F1658C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396279	NM_018392.5(ZGRF1):c.5110G>A (p.Val1704Ile)	ZGRF1 (V1646I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2627364	NM_018392.5(ZGRF1):c.5089A>G (p.Thr1697Ala)	ZGRF1 (T1639A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193500	NM_018392.5(ZGRF1):c.5063C>T (p.Pro1688Leu)	ZGRF1 (P1630L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193499	NM_018392.5(ZGRF1):c.5037A>C (p.Glu1679Asp)	ZGRF1 (E1679D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528444	NM_018392.5(ZGRF1):c.5018A>G (p.Gln1673Arg)	ZGRF1 (Q1615R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290152	NM_018392.5(ZGRF1):c.4991T>C (p.Leu1664Pro)	ZGRF1 (L1606P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334672	NM_018392.5(ZGRF1):c.4954A>G (p.Ile1652Val)	ZGRF1 (I1594V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193498	NM_018392.5(ZGRF1):c.4907T>C (p.Ile1636Thr)	ZGRF1 (I1578T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193497	NM_018392.5(ZGRF1):c.4871T>C (p.Ile1624Thr)	ZGRF1 (I1624T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526106	NM_018392.5(ZGRF1):c.4871T>G (p.Ile1624Ser)	ZGRF1 (I1566S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193496	NM_018392.5(ZGRF1):c.4842G>T (p.Lys1614Asn)	ZGRF1 (K1556N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193495	NM_018392.5(ZGRF1):c.4793G>A (p.Ser1598Asn)	ZGRF1 (S1540N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486773	NM_018392.5(ZGRF1):c.4751C>T (p.Pro1584Leu)	ZGRF1 (P1526L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299050	NM_018392.5(ZGRF1):c.4727G>C (p.Arg1576Thr)	ZGRF1 (R1576T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477098	NM_018392.5(ZGRF1):c.4682A>C (p.Gln1561Pro)	ZGRF1 (Q1503P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362667	NM_018392.5(ZGRF1):c.4613C>G (p.Ala1538Gly)	ZGRF1 (A1538G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193493	NM_018392.5(ZGRF1):c.4456T>C (p.Ser1486Pro)	ZGRF1 (S1428P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334663	NM_018392.5(ZGRF1):c.4444C>A (p.Leu1482Ile)	ZGRF1 (L1482I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149944	GRCh38/hg38 4q25(chr4:112564382-112823236)x3	ANK2, LARP7 +13 more	Copy number gain	See cases	GUncertain significance
Select item 3334654	NM_018392.5(ZGRF1):c.4409G>A (p.Arg1470Gln)	ZGRF1 (R1470Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528501	NM_018392.5(ZGRF1):c.4408C>T (p.Arg1470Trp)	ZGRF1 (R1412W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334669	NM_018392.5(ZGRF1):c.4358A>C (p.Asn1453Thr)	ZGRF1 (N1395T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279097	NM_018392.5(ZGRF1):c.4267C>G (p.Pro1423Ala)	ZGRF1 (P1365A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508274	NM_018392.5(ZGRF1):c.4171G>A (p.Val1391Met)	ZGRF1 (V1391M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405909	NM_018392.5(ZGRF1):c.4115A>T (p.Tyr1372Phe)	ZGRF1 (Y1372F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316126	NM_018392.5(ZGRF1):c.4088A>G (p.Glu1363Gly)	ZGRF1 (E1305G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 617843	NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys)	ZGRF1 (E1363K +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2538195	NM_018392.5(ZGRF1):c.4081A>G (p.Lys1361Glu)	ZGRF1 (K1303E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334655	NM_018392.5(ZGRF1):c.3975A>T (p.Lys1325Asn)	ZGRF1 (K1267N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311750	NM_018392.5(ZGRF1):c.3951A>T (p.Gln1317His)	ZGRF1 (Q1259H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490741	NM_018392.5(ZGRF1):c.3816G>T (p.Gln1272His)	ZGRF1 (Q1272H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221040	NM_018392.5(ZGRF1):c.3763G>A (p.Val1255Ile)	ZGRF1 (V1197I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613580	NM_018392.5(ZGRF1):c.3638G>A (p.Arg1213Gln)	ZGRF1 (R1155Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 374091	NM_018392.5(ZGRF1):c.3596_3597del (p.Ser1199fs)	ZGRF1 (S1141fs +1 more)	Microsatellite (frameshift variant)	See cases +6 more	GUncertain significance
Select item 3193491	NM_018392.5(ZGRF1):c.3569A>G (p.Asp1190Gly)	ZGRF1 (D1132G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685220	NM_018392.5(ZGRF1):c.3509_3537del (p.Gly1170fs)	ZGRF1 (G1112fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2539351	NM_018392.5(ZGRF1):c.3530C>T (p.Ser1177Phe)	ZGRF1 (S1119F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193490	NM_018392.5(ZGRF1):c.3514T>C (p.Phe1172Leu)	ZGRF1 (F1172L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303232	NM_018392.5(ZGRF1):c.3512T>G (p.Phe1171Cys)	ZGRF1 (F1113C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193489	NM_018392.5(ZGRF1):c.3506A>G (p.Asp1169Gly)	ZGRF1 (D1111G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205203	NM_018392.5(ZGRF1):c.3479C>G (p.Pro1160Arg)	ZGRF1 (P1102R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279110	NM_018392.5(ZGRF1):c.3418A>G (p.Ile1140Val)	ZGRF1 (I1140V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193486	NM_018392.5(ZGRF1):c.3329C>T (p.Ser1110Leu)	ZGRF1 (S1052L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193485	NM_018392.5(ZGRF1):c.3143G>A (p.Arg1048His)	ZGRF1 (R1048H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334649	NM_018392.5(ZGRF1):c.3142C>T (p.Arg1048Cys)	ZGRF1 (R1048C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285475	NM_018392.5(ZGRF1):c.3115C>G (p.Leu1039Val)	ZGRF1 (L981V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193484	NM_018392.5(ZGRF1):c.3098C>T (p.Pro1033Leu)	ZGRF1 (P1033L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235910	NM_018392.5(ZGRF1):c.3062A>C (p.Glu1021Ala)	ZGRF1 (E963A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305922	NM_018392.5(ZGRF1):c.3056T>C (p.Met1019Thr)	ZGRF1 (M961T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334652	NM_018392.5(ZGRF1):c.3054C>A (p.Phe1018Leu)	ZGRF1 (F960L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558206	NM_018392.5(ZGRF1):c.3043G>A (p.Asp1015Asn)	ZGRF1 (D957N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601446	NM_018392.5(ZGRF1):c.3008T>C (p.Leu1003Ser)	ZGRF1 (L1003S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193483	NM_018392.5(ZGRF1):c.2863G>A (p.Gly955Arg)	ZGRF1 (G955R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609135	NM_018392.5(ZGRF1):c.2729C>T (p.Ser910Leu)	ZGRF1 (S910L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193482	NM_018392.5(ZGRF1):c.2668A>G (p.Ile890Val)	ZGRF1 (I890V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408422	NM_018392.5(ZGRF1):c.2527G>A (p.Glu843Lys)	ZGRF1 (E843K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329181	NM_018392.5(ZGRF1):c.2492C>T (p.Ser831Leu)	ZGRF1 (S831L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193481	NM_018392.5(ZGRF1):c.2482A>T (p.Ile828Phe)	ZGRF1 (I828F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314784	NM_018392.5(ZGRF1):c.2462G>C (p.Gly821Ala)	ZGRF1 (G821A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334664	NM_018392.5(ZGRF1):c.2314C>T (p.His772Tyr)	ZGRF1 (H772Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396411	NM_018392.5(ZGRF1):c.2297A>G (p.Tyr766Cys)	ZGRF1 (Y766C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285990	NM_018392.5(ZGRF1):c.2243A>G (p.Tyr748Cys)	ZGRF1 (Y748C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338672	NM_018392.5(ZGRF1):c.2241C>G (p.His747Gln)	ZGRF1 (H747Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343137	NM_018392.5(ZGRF1):c.2177A>G (p.His726Arg)	ZGRF1 (H726R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334670	NM_018392.5(ZGRF1):c.2078A>G (p.His693Arg)	ZGRF1 (H693R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466673	NM_018392.5(ZGRF1):c.2036C>T (p.Pro679Leu)	ZGRF1 (P679L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233630	NM_018392.5(ZGRF1):c.1945A>G (p.Lys649Glu)	ZGRF1 (K649E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412372	NM_018392.5(ZGRF1):c.1899A>C (p.Lys633Asn)	ZGRF1 (K633N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611558	NM_018392.5(ZGRF1):c.1853A>C (p.Tyr618Ser)	ZGRF1 (Y618S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362113	NM_018392.5(ZGRF1):c.1796C>G (p.Pro599Arg)	ZGRF1 (P599R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617142	NM_018392.5(ZGRF1):c.1778C>T (p.Thr593Ile)	ZGRF1 (T593I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334668	NM_018392.5(ZGRF1):c.1760A>T (p.Glu587Val)	ZGRF1 (E587V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193479	NM_018392.5(ZGRF1):c.1711T>G (p.Cys571Gly)	ZGRF1 (C571G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193477	NM_018392.5(ZGRF1):c.1618A>G (p.Ser540Gly)	ZGRF1 (S540G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334648	NM_018392.5(ZGRF1):c.1592C>G (p.Thr531Ser)	ZGRF1 (T531S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2