ClinVar for MedGen (Select 1684748) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3061836	NM_021224.6(ZNF462):c.2926A>G (p.Thr976Ala)	ZNF462 (T976A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3061825	NM_021224.6(ZNF462):c.5112C>A (p.Tyr1704Ter)	ZNF462 (Y1704*)	Single nucleotide variant (nonsense +1 more)	Weiss-kruszka syndrome	GLikely pathogenic
Select item 3061820	NM_021224.6(ZNF462):c.5771G>A (p.Arg1924His)	ZNF462 (R1924H)	Single nucleotide variant (missense variant +1 more)	Weiss-kruszka syndrome	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 2671804	NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)	ZNF462 (W1394fs)	Deletion (frameshift variant +1 more)	Weiss-kruszka syndrome	GPathogenic/Likely pathogenic
Select item 2671782	NM_021224.6(ZNF462):c.3160C>G (p.Pro1054Ala)	ZNF462 (P1054A)	Single nucleotide variant (missense variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 2631549	NM_021224.6(ZNF462):c.6163C>T (p.Arg2055Ter)	ZNF462 (R1190* +1 more)	Single nucleotide variant (nonsense)	Weiss-kruszka syndrome +1 more	GPathogenic
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 2584867	NM_021224.6(ZNF462):c.3220A>G (p.Arg1074Gly)	ZNF462 (R1074G)	Single nucleotide variant (missense variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 2581385	NM_021224.6(ZNF462):c.4733G>A (p.Arg1578Gln)	ZNF462 (R1578Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-kruszka syndrome	GPathogenic
Select item 2572648	NM_021224.6(ZNF462):c.6829C>T (p.Arg2277Ter)	ZNF462 (R1412* +1 more)	Single nucleotide variant (nonsense)	Weiss-kruszka syndrome	GLikely pathogenic
Select item 2500924	NM_021224.6(ZNF462):c.3502dup (p.Arg1168fs)	ZNF462 (R1168fs)	Duplication (frameshift variant +1 more)	Weiss-kruszka syndrome	GPathogenic
Select item 2499557	NM_021224.6(ZNF462):c.718C>T (p.Arg240Ter)	ZNF462 (R240*)	Single nucleotide variant (nonsense)	Weiss-kruszka syndrome	GPathogenic
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 2431591	NM_021224.6(ZNF462):c.4147G>C (p.Asp1383His)	ZNF462 (D1383H)	Single nucleotide variant (missense variant +1 more)	Weiss-kruszka syndrome	GUncertain significance
Select item 2431447	NM_021224.6(ZNF462):c.3478G>A (p.Val1160Ile)	ZNF462 (V1160I)	Single nucleotide variant (missense variant +1 more)	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 1992398	NM_021224.6(ZNF462):c.3937del (p.His1313fs)	ZNF462 (H1313fs)	Deletion (frameshift variant +1 more)	Weiss-kruszka syndrome	GPathogenic
Select item 1806316	NM_021224.6(ZNF462):c.2966C>T (p.Ala989Val)	ZNF462 (A989V)	Single nucleotide variant (missense variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 1806053	NM_021224.6(ZNF462):c.6227C>T (p.Ala2076Val)	ZNF462 (A1211V +1 more)	Single nucleotide variant (missense variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 1803088	NM_021224.6(ZNF462):c.5941C>T (p.Arg1981Ter)	ZNF462 (R1116* +1 more)	Single nucleotide variant (nonsense)	Weiss-kruszka syndrome	GPathogenic
Select item 1801357	NM_021224.6(ZNF462):c.5240C>T (p.Ser1747Phe)	ZNF462 (S1747F)	Single nucleotide variant (missense variant +1 more)	Weiss-kruszka syndrome	GLikely pathogenic
Select item 1709341	NM_021224.6(ZNF462):c.4825dup (p.Ser1609fs)	ZNF462 (S1609fs)	Duplication (frameshift variant +1 more)	Weiss-kruszka syndrome	GPathogenic
Select item 1709161	NM_021224.6(ZNF462):c.3292_3293insGGCCCCCCCCCCCCCCCCC (p.Ser1098fs)	ZNF462 (S1098fs)	Insertion (frameshift variant +1 more)	Weiss-kruszka syndrome	GUncertain significance
Select item 1701968	NM_021224.6(ZNF462):c.3047G>A (p.Cys1016Tyr)	ZNF462 (C1016Y)	Single nucleotide variant (missense variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 1699208	NM_021224.6(ZNF462):c.4885C>T (p.Pro1629Ser)	ZNF462 (P1629S)	Single nucleotide variant (missense variant +1 more)	Weiss-kruszka syndrome	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 1695259	NM_021224.6(ZNF462):c.5206A>G (p.Ile1736Val)	ZNF462 (I1736V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1684196	NM_021224.6(ZNF462):c.5483A>G (p.Asn1828Ser)	ZNF462 (N1828S)	Single nucleotide variant (missense variant +1 more)	Weiss-kruszka syndrome	GBenign
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 1526086	NM_021224.6(ZNF462):c.1351C>T (p.Arg451Ter)	ZNF462 (R451*)	Single nucleotide variant (nonsense)	Weiss-kruszka syndrome	GLikely pathogenic
Select item 1343244	NM_021224.6(ZNF462):c.2029del (p.Arg677fs)	ZNF462 (R677fs)	Deletion (frameshift variant)	Weiss-kruszka syndrome	GPathogenic
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 1341748	NM_021224.6(ZNF462):c.4261G>A (p.Glu1421Lys)	ZNF462 (E1421K)	Single nucleotide variant (missense variant +1 more)	ZNF462-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1326576	NM_021224.6(ZNF462):c.3559C>T (p.Pro1187Ser)	ZNF462 (P1187S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1300628	NM_021224.6(ZNF462):c.3666T>C (p.Asn1222=)	ZNF462	Single nucleotide variant (synonymous variant +1 more)	Weiss-kruszka syndrome +1 more	GBenign
Select item 1299321	NM_021224.6(ZNF462):c.220+1G>A	ZNF462	Single nucleotide variant (splice donor variant)	Weiss-kruszka syndrome	GPathogenic
Select item 1285511	NM_021224.6(ZNF462):c.3700C>T (p.Arg1234Ter)	ZNF462 (R1234*)	Single nucleotide variant (nonsense +1 more)	Weiss-kruszka syndrome	GPathogenic
Select item 1175501	NM_021224.6(ZNF462):c.1210A>G (p.Met404Val)	ZNF462 (M404V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1174540	NM_021224.6(ZNF462):c.6431C>A (p.Ser2144Ter)	ZNF462 (S1279* +1 more)	Single nucleotide variant (nonsense)	Weiss-kruszka syndrome	GLikely pathogenic
Select item 1029814	NM_021224.6(ZNF462):c.2339A>G (p.Asp780Gly)	ZNF462 (D780G)	Single nucleotide variant (missense variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 1029813	NM_021224.6(ZNF462):c.1173G>C (p.Glu391Asp)	ZNF462 (E391D)	Single nucleotide variant (missense variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 976789	NM_021224.6(ZNF462):c.6068_6072del (p.Asp2023fs)	ZNF462 (D1158fs +1 more)	Deletion (frameshift variant)	Weiss-kruszka syndrome	GPathogenic
Select item 828154	NM_021224.6(ZNF462):c.6671_6672insG (p.Asp2224fs)	ZNF462 (D1359fs +1 more)	Insertion (frameshift variant)	Weiss-kruszka syndrome	GLikely pathogenic
Select item 801364	NM_021224.6(ZNF462):c.7190A>G (p.Glu2397Gly)	ZNF462, LOC340512 (E1532G +1 more)	Single nucleotide variant (missense variant)	Weiss-kruszka syndrome	GUncertain significance
Select item 801363	NM_021224.6(ZNF462):c.1552del (p.Val518fs)	ZNF462 (V518fs)	Deletion (frameshift variant)	Weiss-kruszka syndrome	GPathogenic
Select item 784648	NM_021224.6(ZNF462):c.5328G>A (p.Ser1776=)	ZNF462	Single nucleotide variant (synonymous variant +1 more)	ZNF462-related disorder +2 more	GBenign
Select item 782146	NM_021224.6(ZNF462):c.5984A>G (p.Asn1995Ser)	ZNF462 (N1130S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 691882	NM_021224.6(ZNF462):c.4165C>T (p.Gln1389Ter)	ZNF462 (Q1389*)	Single nucleotide variant (nonsense +1 more)	Weiss-kruszka syndrome	GPathogenic
Select item 691881	NM_021224.6(ZNF462):c.882dup (p.Ser295fs)	ZNF462 (S295fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 691880	NM_021224.6(ZNF462):c.763C>T (p.Arg255Ter)	ZNF462 (R255*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 691879	NM_021224.6(ZNF462):c.2542del (p.Cys848fs)	ZNF462 (C848fs)	Deletion (frameshift variant)	Weiss-kruszka syndrome	GPathogenic
Select item 691878	NM_021224.6(ZNF462):c.5145del (p.Tyr1716fs)	ZNF462 (Y1716fs)	Deletion (frameshift variant +1 more)	Weiss-kruszka syndrome	GPathogenic
Select item 402118	NM_021224.6(ZNF462):c.2979_2980delinsA (p.Val994fs)	ZNF462 (V994fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 402116	NM_021224.6(ZNF462):c.3787C>T (p.Arg1263Ter)	ZNF462 (R1263*)	Single nucleotide variant (nonsense +1 more)	Craniosynostosis syndrome +2 more	GPathogenic

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Items: 72