ClinVar for Gene (Select 55345) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338569	NM_018392.5(ZGRF1):c.610C>G (p.Pro204Ala)	ZGRF1 (P204A)	Single nucleotide variant (missense variant)	not provided	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 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 3334670	NM_018392.5(ZGRF1):c.2078A>G (p.His693Arg)	ZGRF1 (H693R)	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 3334668	NM_018392.5(ZGRF1):c.1760A>T (p.Glu587Val)	ZGRF1 (E587V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334666	NM_018392.5(ZGRF1):c.1451A>G (p.His484Arg)	ZGRF1 (H484R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334665	NM_018392.5(ZGRF1):c.13G>A (p.Glu5Lys)	ZGRF1 (E5K)	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 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 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 3334661	NM_018392.5(ZGRF1):c.1303G>A (p.Glu435Lys)	ZGRF1 (E435K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3334659	NM_018392.5(ZGRF1):c.784G>A (p.Glu262Lys)	ZGRF1 (E262K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334658	NM_018392.5(ZGRF1):c.1429T>C (p.Ser477Pro)	ZGRF1 (S477P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334657	NM_018392.5(ZGRF1):c.326C>T (p.Pro109Leu)	ZGRF1 (P109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334656	NM_018392.5(ZGRF1):c.917A>G (p.Lys306Arg)	ZGRF1 (K306R)	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 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 3334653	NM_018392.5(ZGRF1):c.1525G>A (p.Asp509Asn)	ZGRF1 (D509N)	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 3334651	NM_018392.5(ZGRF1):c.968A>G (p.Asn323Ser)	ZGRF1 (N323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334650	NM_018392.5(ZGRF1):c.260A>G (p.Asn87Ser)	ZGRF1 (N87S)	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 3334648	NM_018392.5(ZGRF1):c.1592C>G (p.Thr531Ser)	ZGRF1 (T531S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246713	NC_000004.11:g.(?_113298934)_(114302627_?)dup	ALPK1, ANK2 +8 more	Duplication	not provided	GUncertain significance
Select item 3193511	NM_018392.5(ZGRF1):c.689A>G (p.Asn230Ser)	ZGRF1 (N230S)	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 3193508	NM_018392.5(ZGRF1):c.593C>T (p.Pro198Leu)	ZGRF1 (P198L)	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 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 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 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 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 3193494	NM_018392.5(ZGRF1):c.469A>G (p.Met157Val)	ZGRF1 (M157V)	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 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 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 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 3193488	NM_018392.5(ZGRF1):c.347T>C (p.Phe116Ser)	ZGRF1 (F116S)	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 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 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 3193482	NM_018392.5(ZGRF1):c.2668A>G (p.Ile890Val)	ZGRF1 (I890V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 3193476	NM_018392.5(ZGRF1):c.1307A>C (p.Asp436Ala)	ZGRF1 (D436A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193475	NM_018392.5(ZGRF1):c.1107A>C (p.Gln369His)	ZGRF1 (Q369H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193474	NM_018392.5(ZGRF1):c.103G>A (p.Ala35Thr)	ZGRF1 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
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 2617142	NM_018392.5(ZGRF1):c.1778C>T (p.Thr593Ile)	ZGRF1 (T593I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613788	NM_018392.5(ZGRF1):c.45G>A (p.Met15Ile)	ZGRF1 (M15I)	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 2611558	NM_018392.5(ZGRF1):c.1853A>C (p.Tyr618Ser)	ZGRF1 (Y618S)	Single nucleotide variant (missense variant)	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 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 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 2592988	NM_018392.5(ZGRF1):c.1048A>G (p.Arg350Gly)	ZGRF1 (R350G)	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 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 2549428	NM_018392.5(ZGRF1):c.1458A>T (p.Gln486His)	ZGRF1 (Q486H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546541	NM_018392.5(ZGRF1):c.1394G>T (p.Cys465Phe)	ZGRF1 (C465F)	Single nucleotide variant (missense 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 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 2532764	NM_018392.5(ZGRF1):c.473C>T (p.Pro158Leu)	ZGRF1 (P158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530825	NM_018392.5(ZGRF1):c.1070A>G (p.Asp357Gly)	ZGRF1 (D357G)	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 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 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 2516010	NM_018392.5(ZGRF1):c.1022C>T (p.Ser341Phe)	ZGRF1 (S341F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509261	NM_018392.5(ZGRF1):c.535A>G (p.Ile179Val)	ZGRF1 (I179V)	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 2500791	NC_000004.12:g.110650730_112833790del	ALPK1, ANK2 +55 more	Deletion	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
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 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 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 2475604	NM_018392.5(ZGRF1):c.1082C>G (p.Ser361Cys)	ZGRF1 (S361C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469856	NM_018392.5(ZGRF1):c.42G>C (p.Lys14Asn)	ZGRF1 (K14N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467644	NM_018392.5(ZGRF1):c.471G>A (p.Met157Ile)	ZGRF1 (M157I)	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 2462735	NM_018392.5(ZGRF1):c.853G>A (p.Gly285Arg)	ZGRF1 (G285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454279	NM_018392.5(ZGRF1):c.799T>C (p.Cys267Arg)	ZGRF1 (C267R)	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 2412372	NM_018392.5(ZGRF1):c.1899A>C (p.Lys633Asn)	ZGRF1 (K633N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411909	NM_018392.5(ZGRF1):c.662A>G (p.Asn221Ser)	ZGRF1 (N221S)	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 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 2399657	NM_018392.5(ZGRF1):c.977G>A (p.Arg326Gln)	ZGRF1 (R326Q)	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

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