ZNF335[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 1231704	NM_022095.4(ZNF335):c.*278G>A	ZNF335	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1197755	NM_022095.4(ZNF335):c.*278G>C	ZNF335	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1618560	NM_022095.4(ZNF335):c.4026C>T (p.Asp1342=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905624	NM_022095.4(ZNF335):c.4020C>T (p.Ala1340=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 437341	NM_022095.4(ZNF335):c.4006G>A (p.Val1336Ile)	ZNF335 (V1336I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2467015	NM_022095.4(ZNF335):c.4003G>A (p.Asp1335Asn)	ZNF335 (D1335N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1413326	NM_022095.4(ZNF335):c.4001A>G (p.Tyr1334Cys)	ZNF335 (Y1334C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 453188	NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly)	ZNF335 (E1333G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2580439	NM_022095.4(ZNF335):c.3984G>C (p.Gln1328His)	ZNF335 (Q1328H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2369253	NM_022095.4(ZNF335):c.3973C>G (p.Gln1325Glu)	ZNF335 (Q1325E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1958347	NM_022095.4(ZNF335):c.3964G>C (p.Glu1322Gln)	ZNF335 (E1322Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944965	NM_022095.4(ZNF335):c.3964G>A (p.Glu1322Lys)	ZNF335 (E1322K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 749252	NM_022095.4(ZNF335):c.3963C>T (p.Pro1321=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1379519	NM_022095.4(ZNF335):c.3952G>A (p.Glu1318Lys)	ZNF335 (E1318K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744609	NM_022095.4(ZNF335):c.3951C>T (p.Asp1317=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620409	NM_022095.4(ZNF335):c.3913G>A (p.Ala1305Thr)	ZNF335 (A1305T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2008667	NM_022095.4(ZNF335):c.3912T>A (p.Asp1304Glu)	ZNF335 (D1304E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033668	NM_022095.4(ZNF335):c.3902-5G>A	ZNF335	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1555075	NM_022095.4(ZNF335):c.3901+7A>C	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2438682	NM_022095.4(ZNF335):c.3887_3888del (p.His1296fs)	ZNF335 (H1296fs)	Microsatellite (frameshift variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 1487633	NM_022095.4(ZNF335):c.3888C>A (p.His1296Gln)	ZNF335 (H1296Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018924	NM_022095.4(ZNF335):c.3885A>G (p.Ala1295=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074301	NM_022095.4(ZNF335):c.3878C>T (p.Ala1293Val)	ZNF335 (A1293V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644616	NM_022095.4(ZNF335):c.3868C>T (p.Gln1290Ter)	ZNF335 (Q1290*)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GLikely benign
Select item 1336485	NM_022095.4(ZNF335):c.3858C>T (p.Val1286=)	ZNF335	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 212652	NM_022095.4(ZNF335):c.3843A>G (p.Pro1281=)	ZNF335	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 785918	NM_022095.4(ZNF335):c.3842C>T (p.Pro1281Leu)	ZNF335 (P1281L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3046605	NM_022095.4(ZNF335):c.3840C>T (p.Ser1280=)	ZNF335	Single nucleotide variant (synonymous variant)	ZNF335-related disorder	GLikely benign
Select item 437354	NM_022095.4(ZNF335):c.3820-7_3820-6del	ZNF335	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1920640	NM_022095.4(ZNF335):c.3820-7C>T	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208693	NM_022095.4(ZNF335):c.3820-11C>T	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3020105	NM_022095.4(ZNF335):c.3820-17C>T	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962186	NM_022095.4(ZNF335):c.3819+16del	ZNF335	Deletion (intron variant)	not provided	GBenign
Select item 1416303	NM_022095.4(ZNF335):c.3819+6G>A	ZNF335	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1467545	NM_022095.4(ZNF335):c.3819+5G>A	ZNF335	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1939822	NM_022095.4(ZNF335):c.3813G>A (p.Glu1271=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3335508	NM_022095.4(ZNF335):c.3811G>A (p.Glu1271Lys)	ZNF335 (E1271K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1966161	NM_022095.4(ZNF335):c.3804C>T (p.Phe1268=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921973	NM_022095.4(ZNF335):c.3796_3799dup (p.Pro1267fs)	ZNF335 (P1267fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 791209	NM_022095.4(ZNF335):c.3800C>A (p.Pro1267Gln)	ZNF335 (P1267Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 375392	NM_022095.4(ZNF335):c.3787G>T (p.Glu1263Ter)	ZNF335 (E1263*)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GPathogenic
Select item 3027241	NM_022095.4(ZNF335):c.3763G>A (p.Gly1255Ser)	ZNF335 (G1255S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309123	NM_022095.4(ZNF335):c.3757C>G (p.Gln1253Glu)	ZNF335 (Q1253E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3044910	NM_022095.4(ZNF335):c.3754-4G>A	ZNF335	Single nucleotide variant (intron variant)	ZNF335-related disorder	GLikely benign
Select item 3048006	NM_022095.4(ZNF335):c.3754-8C>T	ZNF335	Single nucleotide variant (intron variant)	ZNF335-related disorder	GLikely benign
Select item 740209	NM_022095.4(ZNF335):c.3754-9T>C	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638594	NM_022095.4(ZNF335):c.3754-13T>C	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666138	NM_022095.4(ZNF335):c.3753+16G>A	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814810	NM_022095.4(ZNF335):c.3738A>C (p.Glu1246Asp)	ZNF335 (E1246D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3195224	NM_022095.4(ZNF335):c.3722A>T (p.Tyr1241Phe)	ZNF335 (Y1241F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 437342	NM_022095.4(ZNF335):c.3720A>G (p.Glu1240=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1616858	NM_022095.4(ZNF335):c.3714C>T (p.Pro1238=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706608	NM_022095.4(ZNF335):c.3711C>T (p.Leu1237=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168718	NM_022095.4(ZNF335):c.3696T>C (p.Gly1232=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 377075	NM_022095.4(ZNF335):c.3677A>G (p.Tyr1226Cys)	ZNF335 (Y1226C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1926264	NM_022095.4(ZNF335):c.3675G>A (p.Gln1225=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3055948	NM_022095.4(ZNF335):c.3670-7_3670-5del	ZNF335	Microsatellite (intron variant)	ZNF335-related disorder	GLikely benign
Select item 787492	NM_022095.4(ZNF335):c.3670-16dup	ZNF335	Duplication (intron variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GBenign/Likely benign
Select item 437343	NM_022095.4(ZNF335):c.3670-8A>C	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1638560	NM_022095.4(ZNF335):c.3670-11C>A	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1077526	NM_022095.4(ZNF335):c.3670-15C>T	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3195223	NM_022095.4(ZNF335):c.3661G>A (p.Asp1221Asn)	ZNF335 (D1221N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2178766	NM_022095.4(ZNF335):c.3660C>T (p.Ser1220=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1488864	NM_022095.4(ZNF335):c.3658T>G (p.Ser1220Ala)	ZNF335 (S1220A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498134	NM_022095.4(ZNF335):c.3650T>C (p.Leu1217Pro)	ZNF335 (L1217P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427174	NM_022095.4(ZNF335):c.3640G>A (p.Val1214Ile)	ZNF335 (V1214I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212651	NM_022095.4(ZNF335):c.3639C>T (p.Thr1213=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1404332	NM_022095.4(ZNF335):c.3616A>G (p.Ile1206Val)	ZNF335 (I1206V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 757740	NM_022095.4(ZNF335):c.3600C>T (p.Ala1200=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666009	NM_022095.4(ZNF335):c.3592-14C>T	ZNF335	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196229	NM_022095.4(ZNF335):c.3592-33G>C	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 816879	NM_022095.4(ZNF335):c.3589C>T (p.Gln1197Ter)	ZNF335 (Q1197*)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 2652353	NM_022095.4(ZNF335):c.3556ATC[1] (p.Ile1187del)	ZNF335 (I1187del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 732078	NM_022095.4(ZNF335):c.3561C>T (p.Ile1187=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2312668	NM_022095.4(ZNF335):c.3527G>A (p.Arg1176Gln)	ZNF335 (R1176Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3008956	NM_022095.4(ZNF335):c.3525G>A (p.Glu1175=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130806	NM_022095.4(ZNF335):c.3522A>T (p.Pro1174=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2420889	NM_022095.4(ZNF335):c.3517G>T (p.Gly1173Cys)	ZNF335 (G1173C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2347226	NM_022095.4(ZNF335):c.3508G>A (p.Gly1170Arg)	ZNF335 (G1170R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130805	NM_022095.4(ZNF335):c.3507C>T (p.His1169=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2189998	NM_022095.4(ZNF335):c.3493C>T (p.Leu1165Phe)	ZNF335 (L1165F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716509	NM_022095.4(ZNF335):c.3489T>C (p.Thr1163=)	ZNF335	Single nucleotide variant (synonymous variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GBenign/Likely benign
Select item 498079	NM_022095.4(ZNF335):c.3488-6G>A	ZNF335	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1951030	NM_022095.4(ZNF335):c.3488-13C>T	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2035166	NM_022095.4(ZNF335):c.3488-16dup	ZNF335	Duplication (intron variant)	not provided	GLikely benign
Select item 1909295	NM_022095.4(ZNF335):c.3488-15C>T	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261468	NM_022095.4(ZNF335):c.3488-68T>C	ZNF335	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216206	NM_022095.4(ZNF335):c.3487+46G>C	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170657	NM_022095.4(ZNF335):c.3487+14G>C	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 732743	NM_022095.4(ZNF335):c.3481C>T (p.Leu1161=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941076	NM_022095.4(ZNF335):c.3468A>G (p.Glu1156=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726163	NM_022095.4(ZNF335):c.3465C>T (p.Asp1155=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1639205	NM_022095.4(ZNF335):c.3456C>T (p.Asn1152=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098504	NM_022095.4(ZNF335):c.3453G>C (p.Leu1151=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 212650	NM_022095.4(ZNF335):c.3445A>G (p.Ile1149Val)	ZNF335 (I1149V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2198439	NM_022095.4(ZNF335):c.3433_3444del (p.1141PTQT[1])	ZNF335	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 437344	NM_022095.4(ZNF335):c.3444C>T (p.Thr1148=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

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