ClinVar for Gene (Select 64412) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283216	NM_022482.5(GZF1):c.2129T>C (p.Met710Thr)	GZF1 (M710T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3103404	NM_022482.5(GZF1):c.532A>G (p.Thr178Ala)	GZF1 (T178A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103403	NM_022482.5(GZF1):c.469G>A (p.Val157Ile)	GZF1 (V157I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103402	NM_022482.5(GZF1):c.217A>G (p.Thr73Ala)	GZF1 (T73A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103401	NM_022482.5(GZF1):c.194T>G (p.Leu65Arg)	GZF1 (L65R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103400	NM_022482.5(GZF1):c.193C>A (p.Leu65Ile)	GZF1 (L65I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103399	NM_022482.5(GZF1):c.1849G>A (p.Asp617Asn)	GZF1 (D617N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3103398	NM_022482.5(GZF1):c.1634G>A (p.Arg545His)	GZF1 (R545H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103397	NM_022482.5(GZF1):c.13G>A (p.Ala5Thr)	GZF1 (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103396	NM_022482.5(GZF1):c.1193A>G (p.Gln398Arg)	GZF1 (Q398R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103395	NM_022482.5(GZF1):c.1178A>G (p.Lys393Arg)	GZF1 (K393R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103394	NM_022482.5(GZF1):c.1108G>A (p.Val370Met)	GZF1 (V370M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068498	NC_000020.10:g.16400000_24400000del	BANF2, BFSP1 +49 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3068495	NC_000020.10:g.20158646_24080787del	CD93, CFAP61 +24 more	Deletion	Hyperinsulinemic hypoglycemia, familial, 1	GPathogenic
Select item 3061507	NM_022482.5(GZF1):c.156G>T (p.Val52=)	GZF1	Single nucleotide variant (synonymous variant)	GZF1-related disorder	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3017680	NM_022482.5(GZF1):c.810C>G (p.Gly270=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016646	NM_022482.5(GZF1):c.1527C>T (p.His509=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005605	NM_022482.5(GZF1):c.1878C>T (p.Asp626=)	GZF1 (T611M)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991377	NM_022482.5(GZF1):c.282C>T (p.Val94=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972521	NM_022482.5(GZF1):c.1627+17C>T	GZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971475	NM_022482.5(GZF1):c.2025C>T (p.Ser675=)	GZF1 (P660L)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968195	NM_022482.5(GZF1):c.21G>A (p.Leu7=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966869	NM_022482.5(GZF1):c.1484C>T (p.Thr495Ile)	GZF1 (T495I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890863	NM_022482.5(GZF1):c.1061G>C (p.Gly354Ala)	GZF1 (G354A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889675	NM_022482.5(GZF1):c.1335G>A (p.Ser445=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841880	NM_022482.5(GZF1):c.48C>A (p.Asn16Lys)	GZF1 (N16K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841879	NM_022482.5(GZF1):c.49del (p.Leu17fs)	GZF1 (L17fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2781230	NM_022482.5(GZF1):c.510T>C (p.Asp170=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767653	NM_022482.5(GZF1):c.1737G>C (p.Ala579=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749467	NM_022482.5(GZF1):c.1365-14T>C	GZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732389	NM_022482.5(GZF1):c.88C>T (p.Leu30=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725653	NM_022482.5(GZF1):c.96C>T (p.Asp32=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723065	NM_022482.5(GZF1):c.723G>C (p.Thr241=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722900	NM_022482.5(GZF1):c.1341G>C (p.Pro447=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711755	NM_022482.5(GZF1):c.1008C>T (p.Ser336=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697389	NM_022482.5(GZF1):c.1236C>A (p.Cys412Ter)	GZF1 (C412*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2652238	NM_022482.5(GZF1):c.2133A>G (p.Glu711=)	GZF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652237	NM_022482.5(GZF1):c.797C>T (p.Pro266Leu)	GZF1 (P266L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620846	NM_022482.5(GZF1):c.1127A>G (p.His376Arg)	GZF1 (H376R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2560114	NM_022482.5(GZF1):c.1232A>G (p.Gln411Arg)	GZF1 (Q411R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543630	NM_022482.5(GZF1):c.113A>C (p.Glu38Ala)	GZF1 (E38A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535464	NM_022482.5(GZF1):c.1298G>A (p.Arg433Gln)	GZF1 (R433Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479428	NM_022482.5(GZF1):c.149A>G (p.Lys50Arg)	GZF1 (K50R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432355	NM_022482.5(GZF1):c.224C>G (p.Thr75Ser)	GZF1 (T75S)	Single nucleotide variant (missense variant)	Joint laxity, short stature, and myopia	GUncertain significance
Select item 2421352	NM_022482.5(GZF1):c.890C>T (p.Pro297Leu)	GZF1 (P297L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419655	NM_022482.5(GZF1):c.9C>T (p.Ser3=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2417689	NM_022482.5(GZF1):c.594G>A (p.Pro198=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416803	NM_022482.5(GZF1):c.32A>C (p.Lys11Thr)	GZF1 (K11T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2318390	NM_022482.5(GZF1):c.473G>C (p.Ser158Thr)	GZF1 (S158T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2313546	NM_022482.5(GZF1):c.1307G>A (p.Gly436Asp)	GZF1 (G436D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291330	NM_022482.5(GZF1):c.9C>A (p.Ser3Arg)	GZF1 (S3R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253973	NM_022482.5(GZF1):c.1775G>A (p.Arg592Gln)	GZF1 (R592Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240666	NM_022482.5(GZF1):c.925G>A (p.Glu309Lys)	GZF1 (E309K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214592	NM_022482.5(GZF1):c.2126A>G (p.Asn709Ser)	GZF1 (N709S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2197136	NM_022482.5(GZF1):c.1799A>G (p.Asn600Ser)	GZF1 (N600S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2196133	NM_022482.5(GZF1):c.707C>G (p.Pro236Arg)	GZF1 (P236R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2194894	NM_022482.5(GZF1):c.1193A>T (p.Gln398Leu)	GZF1 (Q398L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189529	NM_022482.5(GZF1):c.1627+4T>C	GZF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2187360	NM_022482.5(GZF1):c.903GGA[4] (p.Glu305_Glu306del)	GZF1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2184358	NM_022482.5(GZF1):c.1656C>T (p.Cys552=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167987	NM_022482.5(GZF1):c.1275C>T (p.His425=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161386	NM_022482.5(GZF1):c.1173C>T (p.Asp391=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154199	NM_022482.5(GZF1):c.1016G>A (p.Arg339His)	GZF1 (R339H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2150700	NM_022482.5(GZF1):c.1227C>T (p.Cys409=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130800	NM_022482.5(GZF1):c.1813T>C (p.Ser605Pro)	GZF1 (S605P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2123139	NM_022482.5(GZF1):c.226A>C (p.Asn76His)	GZF1 (N76H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122171	NM_022482.5(GZF1):c.487C>T (p.Pro163Ser)	GZF1 (P163S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114546	NM_022482.5(GZF1):c.900_905del (p.Glu305_Glu306del)	GZF1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2103606	NM_022482.5(GZF1):c.1482A>G (p.Glu494=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094244	NM_022482.5(GZF1):c.644C>T (p.Pro215Leu)	GZF1 (P215L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093630	NM_022482.5(GZF1):c.1247T>C (p.Leu416Pro)	GZF1 (L416P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089087	NM_022482.5(GZF1):c.381A>G (p.Gln127=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084983	NM_022482.5(GZF1):c.799G>A (p.Asp267Asn)	GZF1 (D267N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2068690	NM_022482.5(GZF1):c.1781C>T (p.Thr594Ile)	GZF1 (T594I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053916	NM_022482.5(GZF1):c.1060G>A (p.Gly354Ser)	GZF1 (G354S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2053455	NM_022482.5(GZF1):c.2051CCA[2] (p.Thr686del)	GZF1 (P671del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2051114	NM_022482.5(GZF1):c.357G>A (p.Leu119=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043656	NM_022482.5(GZF1):c.1905G>A (p.Ser635=)	GZF1 (R620Q)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1987330	NM_022482.5(GZF1):c.973G>T (p.Ala325Ser)	GZF1 (A325S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982335	NM_022482.5(GZF1):c.903G>A (p.Glu301=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981441	NM_022482.5(GZF1):c.1122G>C (p.Glu374Asp)	GZF1 (E374D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979527	NM_022482.5(GZF1):c.512G>T (p.Gly171Val)	GZF1 (G171V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978252	NM_022482.5(GZF1):c.1689G>C (p.Gln563His)	GZF1 (Q563H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967015	NM_022482.5(GZF1):c.120G>C (p.Gln40His)	GZF1 (Q40H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965206	NM_022482.5(GZF1):c.766G>A (p.Gly256Arg)	GZF1 (G256R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961167	NM_022482.5(GZF1):c.1912T>A (p.Leu638Met)	GZF1 (N622K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960055	NM_022482.5(GZF1):c.715A>G (p.Lys239Glu)	GZF1 (K239E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958757	NM_022482.5(GZF1):c.1155G>A (p.Lys385=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956916	NM_022482.5(GZF1):c.108C>T (p.Ser36=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955985	NM_022482.5(GZF1):c.1627+7T>C	GZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945886	NM_022482.5(GZF1):c.1785+13T>C	GZF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941683	NM_022482.5(GZF1):c.1370A>G (p.His457Arg)	GZF1 (H457R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940181	NM_022482.5(GZF1):c.1786-18_1786-14del	GZF1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1932901	NM_022482.5(GZF1):c.1793A>G (p.Asp598Gly)	GZF1 (D598G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1932554	NM_022482.5(GZF1):c.1027G>C (p.Ala343Pro)	GZF1 (A343P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1931531	NM_022482.5(GZF1):c.1710A>G (p.Thr570=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923744	NM_022482.5(GZF1):c.1207G>A (p.Gly403Ser)	GZF1 (G403S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917409	NM_022482.5(GZF1):c.1734T>C (p.Asn578=)	GZF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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