ZNF423[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	LINC02128, LINC02133 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 716576	NM_001379286.1(ZNF423):c.3878G>A (p.Ter1293=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1118556	NM_001379286.1(ZNF423):c.3876G>A (p.Gln1292=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 767050	NM_001379286.1(ZNF423):c.3875A>C (p.Gln1292Pro)	ZNF423 (Q1167P +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14 +2 more	GLikely benign
Select item 1354385	NM_001379286.1(ZNF423):c.3872C>T (p.Ala1291Val)	ZNF423 (A1283V +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 1909498	NM_001379286.1(ZNF423):c.3871G>A (p.Ala1291Thr)	ZNF423 (A1166T +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2855850	NM_001379286.1(ZNF423):c.3870C>T (p.His1290=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1363931	NM_001379286.1(ZNF423):c.3861G>A (p.Met1287Ile)	ZNF423 (M1162I +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2513492	NM_001379286.1(ZNF423):c.3857C>A (p.Thr1286Lys)	ZNF423 (T1161K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 37289	NM_001379286.1(ZNF423):c.3853C>T (p.His1285Tyr)	ZNF423 (H1277Y +3 more)	Single nucleotide variant (missense variant)	Joubert syndrome 19	GPathogenic
Select item 2144556	NM_001379286.1(ZNF423):c.3852C>T (p.Asn1284=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 862498	NM_001379286.1(ZNF423):c.3850-3C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GUncertain significance
Select item 1583400	NM_001379286.1(ZNF423):c.3850-8C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 260537	NM_001379286.1(ZNF423):c.3850-9C>T	ZNF423	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2166947	NM_001379286.1(ZNF423):c.3850-10G>A	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2825167	NM_001379286.1(ZNF423):c.3850-11C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1613574	NM_001379286.1(ZNF423):c.3850-15T>G	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1231602	NM_001379286.1(ZNF423):c.3850-23G>A	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292296	NM_001379286.1(ZNF423):c.3849+94T>G	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245209	NM_001379286.1(ZNF423):c.3849+53G>A	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1552423	NM_001379286.1(ZNF423):c.3849+19T>C	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1581966	NM_001379286.1(ZNF423):c.3849+17G>A	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 3021363	NM_001379286.1(ZNF423):c.3849+16C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1645441	NM_001379286.1(ZNF423):c.3849+16del	ZNF423	Deletion (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1588554	NM_001379286.1(ZNF423):c.3849+12C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 640556	NM_001379286.1(ZNF423):c.3849+6T>A	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GUncertain significance
Select item 711230	NM_001379286.1(ZNF423):c.3840C>T (p.Thr1280=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 3067547	NM_001379286.1(ZNF423):c.3828C>T (p.Phe1276=)	ZNF423	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1113288	NM_001379286.1(ZNF423):c.3816C>T (p.Cys1272=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1409754	NM_001379286.1(ZNF423):c.3812A>G (p.Gln1271Arg)	ZNF423 (Q1203R +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 1516848	NM_001379286.1(ZNF423):c.3809C>T (p.Ser1270Leu)	ZNF423 (S1202L +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 657679	NM_001379286.1(ZNF423):c.3802G>A (p.Asp1268Asn)	ZNF423 (D1260N +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 752354	NM_001379286.1(ZNF423):c.3801C>T (p.Tyr1267=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1986065	NM_001379286.1(ZNF423):c.3781G>A (p.Gly1261Arg)	ZNF423 (G1261R +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 937173	NM_001379286.1(ZNF423):c.3775G>A (p.Val1259Met)	ZNF423 (V1134M +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 1573125	NM_001379286.1(ZNF423):c.3774C>T (p.Ala1258=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 540272	NM_001379286.1(ZNF423):c.3756G>A (p.Leu1252=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1375504	NM_001379286.1(ZNF423):c.3739G>A (p.Val1247Ile)	ZNF423 (V1122I +3 more)	Single nucleotide variant (missense variant)	ZNF423-related condition +1 more	GUncertain significance
Select item 1637363	NM_001379286.1(ZNF423):c.3738C>T (p.Phe1246=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1145722	NM_001379286.1(ZNF423):c.3734-8G>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14 +1 more	GLikely benign
Select item 1100385	NM_001379286.1(ZNF423):c.3734-10C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1918141	NM_001379286.1(ZNF423):c.3734-14G>A	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1672117	NM_001379286.1(ZNF423):c.3734-15C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2765470	NM_001379286.1(ZNF423):c.3734-19C>A	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1259240	NM_001379286.1(ZNF423):c.3733+108G>A	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1383647	NM_001379286.1(ZNF423):c.3733+6G>C	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GUncertain significance
Select item 591512	NM_001379286.1(ZNF423):c.3733+1G>A	ZNF423	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 540273	NM_001379286.1(ZNF423):c.3720C>T (p.Pro1240=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1971021	NM_001379286.1(ZNF423):c.3707C>T (p.Thr1236Ile)	ZNF423 (T1228I +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 1926673	NM_001379286.1(ZNF423):c.3704G>A (p.Gly1235Asp)	ZNF423 (G1110D +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2198991	NM_001379286.1(ZNF423):c.3703G>A (p.Gly1235Ser)	ZNF423 (G1227S +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 724108	NM_001379286.1(ZNF423):c.3702C>T (p.Gly1234=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 861031	NM_001379286.1(ZNF423):c.3691G>A (p.Glu1231Lys)	ZNF423 (E1163K +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 794857	NM_001379286.1(ZNF423):c.3690C>T (p.Phe1230=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 2820472	NM_001379286.1(ZNF423):c.3657C>T (p.Ala1219=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1376393	NM_001379286.1(ZNF423):c.3654G>A (p.Pro1218=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1047427	NM_001379286.1(ZNF423):c.3640A>G (p.Met1214Val)	ZNF423 (M1089V +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 741038	NM_001379286.1(ZNF423):c.3630G>A (p.Leu1210=)	ZNF423	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108332	NM_001379286.1(ZNF423):c.3628C>T (p.Leu1210=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1406895	NM_001379286.1(ZNF423):c.3623G>A (p.Cys1208Tyr)	ZNF423 (C1083Y +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 1098065	NM_001379286.1(ZNF423):c.3621G>A (p.Glu1207=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1363695	NM_001379286.1(ZNF423):c.3619G>A (p.Glu1207Lys)	ZNF423 (E1139K +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 1104288	NM_001379286.1(ZNF423):c.3618C>T (p.His1206=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1660894	NM_001379286.1(ZNF423):c.3602-5T>C	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2781285	NM_001379286.1(ZNF423):c.3602-32_3602-13dup	ZNF423	Duplication (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1169546	NM_001379286.1(ZNF423):c.3602-16C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GBenign
Select item 2081433	NM_001379286.1(ZNF423):c.3602-18C>A	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 148654	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1	LOC110120583, LOC110120584 +136 more	Copy number loss	See cases	GPathogenic
Select item 1293971	NM_001379286.1(ZNF423):c.3601+55T>C	ZNF423	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1529853	NM_001379286.1(ZNF423):c.3601+19C>A	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2033169	NM_001379286.1(ZNF423):c.3601+10C>T	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2092934	NM_001379286.1(ZNF423):c.3601+4AG[2]	ZNF423	Microsatellite (intron variant)	Nephronophthisis 14	GLikely benign
Select item 2919830	NM_001379286.1(ZNF423):c.3601+8A>G	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1552655	NM_001379286.1(ZNF423):c.3601+7G>C	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1080580	NM_001379286.1(ZNF423):c.3582C>T (p.His1194=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 725042	NM_001379286.1(ZNF423):c.3561C>T (p.Asn1187=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 290997	NM_001379286.1(ZNF423):c.3556G>A (p.Glu1186Lys)	ZNF423 (E1178K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951104	NM_001379286.1(ZNF423):c.3555C>T (p.Phe1185=)	ZNF423	Single nucleotide variant (synonymous variant)	ZNF423-related condition +1 more	GLikely benign
Select item 734768	NM_001379286.1(ZNF423):c.3543C>T (p.Cys1181=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1537774	NM_001379286.1(ZNF423):c.3517-9T>C	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1349832	NM_001379286.1(ZNF423):c.3517-13G>A	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GUncertain significance
Select item 260536	NM_001379286.1(ZNF423):c.3517-18T>C	ZNF423	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2174008	NM_001379286.1(ZNF423):c.3517-19A>G	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1107579	NM_001379286.1(ZNF423):c.3516+14A>G	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1631023	NM_001379286.1(ZNF423):c.3516+9A>G	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GLikely benign
Select item 1349511	NM_001379286.1(ZNF423):c.3516+4A>G	ZNF423	Single nucleotide variant (intron variant)	Nephronophthisis 14	GUncertain significance
Select item 2001108	NM_001379286.1(ZNF423):c.3513C>A (p.Pro1171=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1154974	NM_001379286.1(ZNF423):c.3504G>A (p.Ser1168=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 1408976	NM_001379286.1(ZNF423):c.3503C>T (p.Ser1168Leu)	ZNF423 (S1100L +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2076426	NM_001379286.1(ZNF423):c.3495C>A (p.Thr1165=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign
Select item 842483	NM_001379286.1(ZNF423):c.3484C>T (p.Arg1162Trp)	ZNF423 (R1154W +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 1969763	NM_001379286.1(ZNF423):c.3482C>A (p.Pro1161His)	ZNF423 (P1036H +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 1402840	NM_001379286.1(ZNF423):c.3468G>A (p.Pro1156=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GLikely benign

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