ZFC3H1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 2225470	NM_144982.5(ZFC3H1):c.5945A>T (p.Asn1982Ile)	ZFC3H1 (N1982I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599528	NM_144982.5(ZFC3H1):c.5885T>C (p.Leu1962Pro)	ZFC3H1 (L1962P)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2356038	NM_144982.5(ZFC3H1):c.5752C>G (p.Leu1918Val)	ZFC3H1 (L1918V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768568	NM_144982.5(ZFC3H1):c.5190A>G (p.Leu1730=)	ZFC3H1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219832	NM_144982.5(ZFC3H1):c.5186G>A (p.Arg1729His)	ZFC3H1 (R1729H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192911	NM_144982.5(ZFC3H1):c.5080C>T (p.Arg1694Trp)	ZFC3H1 (R1694W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360278	NM_144982.5(ZFC3H1):c.5045T>C (p.Leu1682Ser)	ZFC3H1 (L1682S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278052	NM_144982.5(ZFC3H1):c.5042T>A (p.Ile1681Asn)	ZFC3H1 (I1681N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192910	NM_144982.5(ZFC3H1):c.5028G>A (p.Met1676Ile)	ZFC3H1 (M1676I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192909	NM_144982.5(ZFC3H1):c.5015T>C (p.Val1672Ala)	ZFC3H1 (V1672A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383567	NM_144982.5(ZFC3H1):c.5000C>A (p.Pro1667His)	ZFC3H1 (P1667H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345190	NM_144982.5(ZFC3H1):c.4997A>T (p.Asn1666Ile)	ZFC3H1 (N1666I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533249	NM_144982.5(ZFC3H1):c.4960A>G (p.Lys1654Glu)	ZFC3H1 (K1654E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192907	NM_144982.5(ZFC3H1):c.4768G>A (p.Glu1590Lys)	ZFC3H1 (E1590K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192906	NM_144982.5(ZFC3H1):c.4763C>G (p.Thr1588Arg)	ZFC3H1 (T1588R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370229	NM_144982.5(ZFC3H1):c.4745A>G (p.Asp1582Gly)	ZFC3H1 (D1582G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258552	NM_144982.5(ZFC3H1):c.4598T>C (p.Ile1533Thr)	ZFC3H1 (I1533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389526	NM_144982.5(ZFC3H1):c.4582G>T (p.Ala1528Ser)	ZFC3H1 (A1528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308881	NM_144982.5(ZFC3H1):c.4520C>T (p.Ser1507Phe)	ZFC3H1 (S1507F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192905	NM_144982.5(ZFC3H1):c.4467A>G (p.Ile1489Met)	ZFC3H1 (I1489M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785418	NM_144982.5(ZFC3H1):c.4254C>T (p.Asp1418=)	ZFC3H1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2309229	NM_144982.5(ZFC3H1):c.4175G>A (p.Arg1392Gln)	ZFC3H1 (R1392Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331759	NM_144982.5(ZFC3H1):c.4049T>C (p.Leu1350Ser)	ZFC3H1 (L1350S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643179	NM_144982.5(ZFC3H1):c.3987T>C (p.Asp1329=)	ZFC3H1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2461342	NM_144982.5(ZFC3H1):c.3964C>G (p.Gln1322Glu)	ZFC3H1 (Q1322E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292782	NM_144982.5(ZFC3H1):c.3953A>C (p.Gln1318Pro)	ZFC3H1 (Q1318P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785419	NM_144982.5(ZFC3H1):c.3936A>G (p.Pro1312=)	ZFC3H1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3192904	NM_144982.5(ZFC3H1):c.3887C>T (p.Pro1296Leu)	ZFC3H1 (P1296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192903	NM_144982.5(ZFC3H1):c.3861G>C (p.Lys1287Asn)	ZFC3H1 (K1287N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250663	NM_144982.5(ZFC3H1):c.3854A>G (p.Lys1285Arg)	ZFC3H1 (K1285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224405	NM_144982.5(ZFC3H1):c.3851A>G (p.Asp1284Gly)	ZFC3H1 (D1284G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192901	NM_144982.5(ZFC3H1):c.3772A>G (p.Met1258Val)	ZFC3H1 (M1258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192900	NM_144982.5(ZFC3H1):c.3769T>G (p.Ser1257Ala)	ZFC3H1 (S1257A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289145	NM_144982.5(ZFC3H1):c.3689A>T (p.Glu1230Val)	ZFC3H1 (E1230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726905	NM_144982.5(ZFC3H1):c.3600A>G (p.Gln1200=)	ZFC3H1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3192899	NM_144982.5(ZFC3H1):c.3593A>G (p.Asp1198Gly)	ZFC3H1 (D1198G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223695	NM_144982.5(ZFC3H1):c.3559C>T (p.Arg1187Cys)	ZFC3H1 (R1187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784304	NM_144982.5(ZFC3H1):c.3543G>C (p.Pro1181=)	ZFC3H1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2234178	NM_144982.5(ZFC3H1):c.3535A>G (p.Ile1179Val)	ZFC3H1 (I1179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531266	NM_144982.5(ZFC3H1):c.3534G>C (p.Met1178Ile)	ZFC3H1 (M1178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327111	NM_144982.5(ZFC3H1):c.3407T>C (p.Met1136Thr)	ZFC3H1 (M1136T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224910	NM_144982.5(ZFC3H1):c.3364A>G (p.Ile1122Val)	ZFC3H1 (I1122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331758	NM_144982.5(ZFC3H1):c.3331G>A (p.Gly1111Ser)	ZFC3H1 (G1111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488225	NM_144982.5(ZFC3H1):c.3274C>G (p.Gln1092Glu)	ZFC3H1 (Q1092E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257500	NM_144982.5(ZFC3H1):c.3152A>G (p.Asn1051Ser)	ZFC3H1 (N1051S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597904	NM_144982.5(ZFC3H1):c.2960G>A (p.Arg987His)	ZFC3H1 (R987H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606975	NM_144982.5(ZFC3H1):c.2956G>A (p.Ala986Thr)	ZFC3H1 (A986T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613860	NM_144982.5(ZFC3H1):c.2846C>G (p.Ser949Cys)	ZFC3H1 (S949C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748749	NM_144982.5(ZFC3H1):c.2766A>T (p.Ala922=)	ZFC3H1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2324509	NM_144982.5(ZFC3H1):c.2711C>T (p.Thr904Ile)	ZFC3H1 (T904I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266348	NM_144982.5(ZFC3H1):c.2705G>A (p.Arg902His)	ZFC3H1 (R902H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192897	NM_144982.5(ZFC3H1):c.2647A>C (p.Asn883His)	ZFC3H1 (N883H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717303	NM_144982.5(ZFC3H1):c.2510+8T>G	ZFC3H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2598309	NM_144982.5(ZFC3H1):c.2375G>A (p.Arg792His)	ZFC3H1 (R792H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730412	NM_144982.5(ZFC3H1):c.2364T>A (p.Arg788=)	ZFC3H1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2247740	NM_144982.5(ZFC3H1):c.2252C>T (p.Pro751Leu)	ZFC3H1 (P751L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192896	NM_144982.5(ZFC3H1):c.2251C>T (p.Pro751Ser)	ZFC3H1 (P751S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774820	NM_144982.5(ZFC3H1):c.2046G>A (p.Arg682=)	ZFC3H1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3192894	NM_144982.5(ZFC3H1):c.2041C>G (p.Pro681Ala)	ZFC3H1 (P681A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192893	NM_144982.5(ZFC3H1):c.1982A>G (p.Asn661Ser)	ZFC3H1 (N661S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270599	NM_144982.5(ZFC3H1):c.1960C>T (p.Pro654Ser)	ZFC3H1 (P654S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249690	NM_144982.5(ZFC3H1):c.1953T>G (p.Ser651Arg)	ZFC3H1 (S651R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192891	NM_144982.5(ZFC3H1):c.1714C>A (p.Pro572Thr)	ZFC3H1 (P572T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350839	NM_144982.5(ZFC3H1):c.1705C>G (p.Pro569Ala)	ZFC3H1 (P569A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406040	NM_144982.5(ZFC3H1):c.1646C>T (p.Pro549Leu)	ZFC3H1 (P549L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526802	NM_144982.5(ZFC3H1):c.1537A>G (p.Lys513Glu)	ZFC3H1 (K513E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259083	NM_144982.5(ZFC3H1):c.1222C>G (p.Gln408Glu)	ZFC3H1 (Q408E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246324	NM_144982.5(ZFC3H1):c.1007C>G (p.Ser336Cys)	ZFC3H1 (S336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599529	NM_144982.5(ZFC3H1):c.947G>A (p.Arg316His)	ZFC3H1 (R316H)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 2362719	NM_144982.5(ZFC3H1):c.946C>A (p.Arg316Ser)	ZFC3H1 (R316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192912	NM_144982.5(ZFC3H1):c.859C>T (p.Pro287Ser)	ZFC3H1 (P287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623814	NM_144982.5(ZFC3H1):c.853G>A (p.Val285Ile)	ZFC3H1 (V285I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2328399	NM_144982.5(ZFC3H1):c.837G>T (p.Lys279Asn)	ZFC3H1 (K279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618051	NM_144982.5(ZFC3H1):c.728A>G (p.Asn243Ser)	ZFC3H1 (N243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316022	NM_144982.5(ZFC3H1):c.659G>A (p.Cys220Tyr)	ZFC3H1 (C220Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491399	NM_144982.5(ZFC3H1):c.529G>A (p.Gly177Arg)	ZFC3H1 (G177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528720	NM_144982.5(ZFC3H1):c.502G>T (p.Gly168Cys)	ZFC3H1 (G168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528782	NM_144982.5(ZFC3H1):c.497G>C (p.Arg166Pro)	ZFC3H1 (R166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347152	NM_144982.5(ZFC3H1):c.440G>T (p.Arg147Leu)	ZFC3H1 (R147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539805	NM_144982.5(ZFC3H1):c.331C>G (p.Arg111Gly)	ZFC3H1 (R111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562052	NM_144982.5(ZFC3H1):c.317C>T (p.Pro106Leu)	ZFC3H1 (P106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457309	NM_144982.5(ZFC3H1):c.316C>G (p.Pro106Ala)	ZFC3H1 (P106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409997	NM_144982.5(ZFC3H1):c.316C>T (p.Pro106Ser)	ZFC3H1 (P106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568792	NM_144982.5(ZFC3H1):c.307A>G (p.Ser103Gly)	ZFC3H1 (S103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192898	NM_144982.5(ZFC3H1):c.283C>T (p.Arg95Trp)	ZFC3H1 (R95W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192895	NM_144982.5(ZFC3H1):c.218C>T (p.Ser73Phe)	ZFC3H1 (S73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597100	NM_144982.5(ZFC3H1):c.158C>T (p.Pro53Leu)	ZFC3H1 (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285080	NM_144982.5(ZFC3H1):c.127A>C (p.Ser43Arg)	LOC130008291, ZFC3H1 (S43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517213	NM_144982.5(ZFC3H1):c.121A>G (p.Ser41Gly)	LOC130008291, ZFC3H1 (S41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531265	NM_144982.5(ZFC3H1):c.107T>C (p.Ile36Thr)	LOC130008291, ZFC3H1 (I36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335910	NM_144982.5(ZFC3H1):c.46C>G (p.Pro16Ala)	LOC130008291, ZFC3H1 (P16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063262	GRCh37/hg19 12q15-21.1(chr12:69498859-74073631)x1	BEST3, CCT2 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688046	GRCh37/hg19 12q15-21.1(chr12:71081550-73526446)x1	LGR5, PTPRR +8 more	Copy number loss	not provided	GUncertain significance
Select item 443535	GRCh37/hg19 12q15-21.1(chr12:70575476-73344659)x1	CNOT2, KCNMB4 +11 more	Copy number loss	See cases	GLikely pathogenic

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