Related gene-specific medical variations for Gene (Select 58499) - ClinVar

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

Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373634	NM_021224.6(ZNF462):c.6902G>A (p.Arg2301His)	LOC340512, ZNF462 (R1436H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366936	NM_021224.6(ZNF462):c.7365_7366del (p.Glu2455fs)	LOC340512, ZNF462 (E1590fs +1 more)	Microsatellite (frameshift variant)	Weiss-Kruszka syndrome	GLikely pathogenic
Select item 3364211	NM_021224.6(ZNF462):c.7205C>T (p.Ser2402Phe)	LOC340512, ZNF462 (S1537F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362335	NM_021224.6(ZNF462):c.4759G>T (p.Gly1587Cys)	ZNF462 (G1587C)	Single nucleotide variant (missense variant +1 more)	Weiss-Kruszka syndrome	GUncertain significance
Select item 3361848	NM_021224.6(ZNF462):c.2900A>T (p.Gln967Leu)	ZNF462 (Q967L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361634	NM_021224.6(ZNF462):c.5954A>C (p.Asn1985Thr)	ZNF462 (N1120T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361422	NM_021224.6(ZNF462):c.3625C>T (p.Leu1209Phe)	ZNF462 (L1209F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361094	NM_021224.6(ZNF462):c.5322C>A (p.Phe1774Leu)	ZNF462 (F1774L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360002	NM_021224.6(ZNF462):c.1635ACC[2] (p.Pro554del)	ZNF462 (P554del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3359923	NM_021224.6(ZNF462):c.6713A>G (p.His2238Arg)	ZNF462 (H1373R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359858	NM_021224.6(ZNF462):c.1937A>G (p.Asp646Gly)	ZNF462 (D646G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359554	NM_021224.6(ZNF462):c.637C>A (p.Gln213Lys)	ZNF462 (Q213K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359358	NM_021224.6(ZNF462):c.2244C>G (p.Ile748Met)	ZNF462 (I748M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359072	NM_021224.6(ZNF462):c.1975C>T (p.Gln659Ter)	ZNF462 (Q659*)	Single nucleotide variant (nonsense)	Weiss-Kruszka syndrome	GPathogenic
Select item 3354466	NM_021224.6(ZNF462):c.7121A>C (p.Lys2374Thr)	LOC340512, ZNF462 (K1509T +1 more)	Single nucleotide variant (missense variant)	ZNF462-related disorder	GUncertain significance
Select item 3258173	NM_021224.6(ZNF462):c.7178C>A (p.Ala2393Asp)	LOC340512, ZNF462 (A1528D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3258166	NM_021224.6(ZNF462):c.7265C>T (p.Ala2422Val)	LOC340512, ZNF462 (A2422V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234855	NM_021224.6(ZNF462):c.7505A>G (p.Glu2502Gly)	LOC340512, ZNF462 (E1637G +1 more)	Single nucleotide variant (missense variant)	Weiss-Kruszka syndrome	GUncertain significance
Select item 3195949	NM_021224.6(ZNF462):c.7490T>C (p.Leu2497Pro)	LOC340512, ZNF462 (L2497P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195948	NM_021224.6(ZNF462):c.7384A>C (p.Lys2462Gln)	LOC340512, ZNF462 (K1597Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195947	NM_021224.6(ZNF462):c.7177G>T (p.Ala2393Ser)	LOC340512, ZNF462 (A2393S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3195946	NM_021224.6(ZNF462):c.6878A>G (p.Lys2293Arg)	LOC340512, ZNF462 (K1428R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068752	NM_021224.6(ZNF462):c.*13A>G	LOC340512, ZNF462	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
Select item 3064950	NM_021224.6(ZNF462):c.-31+644G>C	ZNF462	Single nucleotide variant (intron variant)	Weiss-Kruszka syndrome	GUncertain significance
Select item 3064902	NM_021224.6(ZNF462):c.3880A>G (p.Thr1294Ala)	ZNF462 (T1294A)	Single nucleotide variant (missense variant +1 more)	Weiss-Kruszka syndrome	GUncertain significance
Select item 3062074	NM_021224.6(ZNF462):c.7058_7077del (p.Val2353fs)	LOC340512, ZNF462 (V1488fs +1 more)	Deletion (frameshift variant)	Weiss-Kruszka syndrome	GLikely pathogenic
Select item 3052871	NM_021224.6(ZNF462):c.7390C>T (p.Pro2464Ser)	LOC340512, ZNF462 (P1599S +1 more)	Single nucleotide variant (missense variant)	ZNF462-related disorder	GLikely benign
Select item 3050287	NM_021224.6(ZNF462):c.*2C>T	LOC340512, ZNF462	Single nucleotide variant (3 prime UTR variant)	ZNF462-related disorder	GBenign
Select item 3049434	NM_021224.6(ZNF462):c.7296T>C (p.His2432=)	LOC340512, ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder	GLikely benign
Select item 3048690	NM_021224.6(ZNF462):c.7230T>C (p.Thr2410=)	LOC340512, ZNF462	Single nucleotide variant (synonymous variant)	ZNF462-related disorder	GLikely benign
Select item 3031273	NM_021224.6(ZNF462):c.6925T>A (p.Cys2309Ser)	LOC340512, ZNF462 (C1444S +1 more)	Single nucleotide variant (missense variant)	ZNF462-related disorder	GUncertain significance
Select item 3027495	NM_021224.6(ZNF462):c.5323C>T (p.Gln1775Ter)	ZNF462 (Q1775*)	Single nucleotide variant (nonsense +1 more)	Weiss-Kruszka syndrome	GPathogenic
Select item 2671810	NM_021224.6(ZNF462):c.2726del (p.His909fs)	ZNF462 (H909fs)	Deletion (frameshift variant)	Weiss-Kruszka syndrome	GPathogenic
Select item 2671809	NM_021224.6(ZNF462):c.4390G>A (p.Ala1464Thr)	ZNF462 (A1464T)	Single nucleotide variant (missense variant +1 more)	Weiss-Kruszka syndrome	GUncertain significance
Select item 2671808	NM_021224.6(ZNF462):c.6303C>G (p.His2101Gln)	ZNF462 (H1236Q +1 more)	Single nucleotide variant (missense variant)	Weiss-Kruszka syndrome	GUncertain significance
Select item 2671807	NM_021224.6(ZNF462):c.507C>A (p.Tyr169Ter)	ZNF462 (Y169*)	Single nucleotide variant (nonsense)	Weiss-Kruszka syndrome	GPathogenic
Select item 2671806	NM_021224.6(ZNF462):c.1151del (p.Asn384fs)	ZNF462 (N384fs)	Deletion (frameshift variant)	Weiss-Kruszka syndrome	GPathogenic
Select item 2671805	NM_021224.6(ZNF462):c.1690C>T (p.Gln564Ter)	ZNF462 (Q564*)	Single nucleotide variant (nonsense)	Weiss-Kruszka syndrome	GPathogenic
Select item 2659406	NM_021224.6(ZNF462):c.7308C>T (p.His2436=)	LOC340512, ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659405	NM_021224.6(ZNF462):c.7149G>A (p.Glu2383=)	LOC340512, ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659404	NM_021224.6(ZNF462):c.6840T>C (p.Arg2280=)	LOC340512, ZNF462	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627754	NM_021224.6(ZNF462):c.3965C>T (p.Thr1322Met)	ZNF462 (T1322M)	Single nucleotide variant (missense variant +1 more)	Weiss-Kruszka syndrome	GUncertain significance
Select item 2618163	NM_021224.6(ZNF462):c.7393T>C (p.Ser2465Pro)	LOC340512, ZNF462 (S2465P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581935	NM_021224.6(ZNF462):c.7313+1G>A	LOC340512, ZNF462	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2571996	NM_021224.6(ZNF462):c.7159G>A (p.Glu2387Lys)	LOC340512, ZNF462 (E1522K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442122	NM_021224.6(ZNF462):c.6013-11T>A	ZNF462	Single nucleotide variant (intron variant)	Weiss-Kruszka syndrome	GUncertain significance
Select item 2441937	NM_021224.6(ZNF462):c.4178_4179dup (p.Trp1394fs)	ZNF462 (W1394fs)	Duplication (frameshift variant +1 more)	Weiss-Kruszka syndrome	GLikely pathogenic
Select item 2441859	NM_021224.6(ZNF462):c.5797A>T (p.Ser1933Cys)	ZNF462 (S1933C)	Single nucleotide variant (missense variant +1 more)	Weiss-Kruszka syndrome	GUncertain significance
Select item 2438687	NM_021224.6(ZNF462):c.1298G>C (p.Arg433Thr)	ZNF462 (R433T)	Single nucleotide variant (missense variant)	Weiss-Kruszka syndrome	GUncertain significance
Select item 2438686	NM_021224.6(ZNF462):c.6571C>T (p.Leu2191Phe)	ZNF462 (L1326F +1 more)	Single nucleotide variant (missense variant)	Weiss-Kruszka syndrome	GUncertain significance
Select item 2430000	NM_021224.6(ZNF462):c.2748_2749insT (p.Asn917Ter)	ZNF462 (N917*)	Insertion (nonsense)	Weiss-Kruszka syndrome	GLikely pathogenic
Select item 2380104	NM_021224.6(ZNF462):c.7423A>G (p.Ile2475Val)	LOC340512, ZNF462 (I2475V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367663	NM_021224.6(ZNF462):c.7050G>C (p.Glu2350Asp)	LOC340512, ZNF462 (E2350D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2297611	NM_021224.6(ZNF462):c.7244C>T (p.Pro2415Leu)	LOC340512, ZNF462 (P2415L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1992398	NM_021224.6(ZNF462):c.3937del (p.His1313fs)	ZNF462 (H1313fs)	Deletion (frameshift variant +1 more)	Weiss-Kruszka syndrome	GPathogenic
Select item 1804276	NM_021224.6(ZNF462):c.6919T>C (p.Phe2307Leu)	LOC340512, ZNF462 (F1442L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800897	NM_021224.6(ZNF462):c.6942C>A (p.Ser2314Arg)	LOC340512, ZNF462 (S1449R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712918	NM_021224.6(ZNF462):c.7301T>G (p.Leu2434Arg)	ZNF462, LOC340512 (L1569R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712574	NM_021224.6(ZNF462):c.7111A>T (p.Met2371Leu)	ZNF462, LOC340512 (M1506L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696548	NM_021224.6(ZNF462):c.6601G>A (p.Gly2201Ser)	ZNF462 (G1336S +1 more)	Single nucleotide variant (missense variant)	Weiss-Kruszka syndrome	GUncertain significance
Select item 1679657	NM_021224.6(ZNF462):c.4241A>T (p.Glu1414Val)	ZNF462 (E1414V)	Single nucleotide variant (missense variant +1 more)	Weiss-Kruszka syndrome	GUncertain significance
Select item 1676566	NM_021224.6(ZNF462):c.4997A>C (p.Lys1666Thr)	ZNF462 (K1666T)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676547	NM_021224.6(ZNF462):c.5098G>A (p.Ala1700Thr)	ZNF462 (A1700T)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676502	NM_021224.6(ZNF462):c.890C>G (p.Thr297Ser)	ZNF462 (T297S)	Single nucleotide variant	not provided	GUncertain significance
Select item 1342552	NM_021224.6(ZNF462):c.3060G>C (p.Lys1020Asn)	ZNF462 (K1020N)	Single nucleotide variant (missense variant)	Weiss-Kruszka syndrome	GUncertain significance
Select item 1342504	NM_021224.6(ZNF462):c.4588G>T (p.Val1530Leu)	ZNF462 (V1530L)	Single nucleotide variant (missense variant +1 more)	Weiss-Kruszka syndrome	GUncertain significance
Select item 1341928	NM_021224.6(ZNF462):c.4252C>G (p.Leu1418Val)	ZNF462 (L1418V)	Single nucleotide variant (missense variant +1 more)	Weiss-Kruszka syndrome	GUncertain significance
Select item 1331567	NM_021224.6(ZNF462):c.7430T>C (p.Ile2477Thr)	LOC340512, ZNF462 (I1612T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328825	NM_021224.6(ZNF462):c.7180G>A (p.Glu2394Lys)	LOC340512, ZNF462 (E1529K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275771	NM_021224.6(ZNF462):c.2859del (p.Asn954fs)	ZNF462 (N954fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1272174	NM_021224.6(ZNF462):c.7355A>T (p.His2452Leu)	LOC340512, ZNF462 (H1587L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 992735	NM_021224.6(ZNF462):c.3601G>A (p.Gly1201Arg)	ZNF462 (G1201R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 977407	NM_021224.6(ZNF462):c.4087C>T (p.Pro1363Ser)	ZNF462 (P1363S)	Single nucleotide variant (missense variant +1 more)	Seizure	GUncertain significance
Select item 801364	NM_021224.6(ZNF462):c.7190A>G (p.Glu2397Gly)	LOC340512, ZNF462 (E1532G +1 more)	Single nucleotide variant (missense variant)	Weiss-Kruszka syndrome	GUncertain significance
Select item 441169	t(9;13)(q31.2;q22.1)	KLF12, ZNF462	Translocation	not provided	GPathogenic
Select item 402117	NM_021224.6(ZNF462):c.4263del (p.Glu1422fs)	ZNF462 (E1422fs)	Deletion (frameshift variant +1 more)	Craniosynostosis syndrome +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 76