ZNF644[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 31109	NM_201269.3(ZNF644):c.*592G>A	ZNF644	Single nucleotide variant (3 prime UTR variant)	Myopia 21, autosomal dominant	GPathogenic
Select item 2431023	NM_201269.3(ZNF644):c.3947C>T (p.Thr1316Ile)	ZNF644 (T1316I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739640	NM_201269.3(ZNF644):c.3933C>T (p.Ala1311=)	ZNF644	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3197413	NM_201269.3(ZNF644):c.3932C>T (p.Ala1311Val)	ZNF644 (A1311V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035474	NM_201269.3(ZNF644):c.3884G>A (p.Arg1295Gln)	ZNF644 (R1295Q +1 more)	Single nucleotide variant (missense variant)	ZNF644-related disorder	GBenign
Select item 3197412	NM_201269.3(ZNF644):c.3880C>G (p.Pro1294Ala)	ZNF644 (P1294A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297687	NM_201269.3(ZNF644):c.3862A>G (p.Ile1288Val)	ZNF644 (I1288V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2234641	NM_201269.3(ZNF644):c.3853C>G (p.Gln1285Glu)	ZNF644 (Q63E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718970	NM_201269.3(ZNF644):c.3768C>T (p.Asp1256=)	ZNF644	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2268307	NM_201269.3(ZNF644):c.3734A>G (p.Lys1245Arg)	ZNF644 (K23R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 931639	NM_201269.3(ZNF644):c.3683A>G (p.His1228Arg)	ZNF644 (H1228R)	Single nucleotide variant (missense variant +1 more)	Myopia 21, autosomal dominant	GUncertain significance
Select item 3197411	NM_201269.3(ZNF644):c.3679A>G (p.Met1227Val)	ZNF644 (M1227V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2581883	NM_201269.3(ZNF644):c.3675G>C (p.Leu1225Phe)	ZNF644 (L1225F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2314191	NM_201269.3(ZNF644):c.3586C>G (p.Gln1196Glu)	ZNF644 (Q1196E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259029	NM_201269.3(ZNF644):c.3571C>G (p.Gln1191Glu)	ZNF644 (Q1191E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323282	NM_201269.3(ZNF644):c.3505C>G (p.Leu1169Val)	ZNF644 (L1169V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621337	NM_201269.3(ZNF644):c.3500A>C (p.Gln1167Pro)	ZNF644 (Q1167P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1031815	NM_201269.3(ZNF644):c.3494del (p.Lys1165fs)	ZNF644 (K1165fs)	Deletion (frameshift variant +1 more)	Myopia 21, autosomal dominant	GUncertain significance
Select item 2278587	NM_201269.3(ZNF644):c.3473C>A (p.Pro1158Gln)	ZNF644 (P1158Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197410	NM_201269.3(ZNF644):c.3400A>G (p.Thr1134Ala)	ZNF644 (T1134A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279154	NM_201269.3(ZNF644):c.3362A>G (p.Asn1121Ser)	ZNF644 (N1121S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259024	NM_201269.3(ZNF644):c.3354A>G (p.Ile1118Met)	ZNF644 (I1118M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049340	NM_201269.3(ZNF644):c.3324T>C (p.Ala1108=)	ZNF644	Single nucleotide variant (synonymous variant +1 more)	ZNF644-related disorder	GBenign
Select item 715422	NM_201269.3(ZNF644):c.3299G>A (p.Arg1100His)	ZNF644 (R1100H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 376768	NM_201269.3(ZNF644):c.3295C>T (p.Arg1099Cys)	ZNF644 (R1099C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2589874	NM_201269.3(ZNF644):c.3290A>G (p.Asn1097Ser)	ZNF644 (N1097S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338061	NM_201269.3(ZNF644):c.3232G>A (p.Val1078Ile)	ZNF644 (V1078I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355529	NM_201269.3(ZNF644):c.3216C>A (p.His1072Gln)	ZNF644 (H1072Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197409	NM_201269.3(ZNF644):c.3214C>T (p.His1072Tyr)	ZNF644 (H1072Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 794513	NM_201269.3(ZNF644):c.3201G>A (p.Thr1067=)	ZNF644	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2215756	NM_201269.3(ZNF644):c.3200C>T (p.Thr1067Met)	ZNF644 (T1067M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197408	NM_201269.3(ZNF644):c.3053C>T (p.Thr1018Ile)	ZNF644 (T1018I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2630519	NM_201269.3(ZNF644):c.3014C>T (p.Ala1005Val)	ZNF644 (A1005V)	Single nucleotide variant (missense variant +1 more)	ZNF644-related disorder	GUncertain significance
Select item 2211383	NM_201269.3(ZNF644):c.2891C>T (p.Ser964Leu)	ZNF644 (S964L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234717	NM_201269.3(ZNF644):c.2821A>G (p.Thr941Ala)	ZNF644 (T941A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038400	NM_201269.3(ZNF644):c.2655G>T (p.Glu885Asp)	ZNF644 (E885D)	Single nucleotide variant (missense variant +1 more)	ZNF644-related disorder	GBenign
Select item 780246	NM_201269.3(ZNF644):c.2608A>G (p.Thr870Ala)	ZNF644 (T870A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2383188	NM_201269.3(ZNF644):c.2603A>G (p.Asp868Gly)	ZNF644 (D868G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514078	NM_201269.3(ZNF644):c.2565A>G (p.Thr855=)	ZNF644	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2475095	NM_201269.3(ZNF644):c.2555G>A (p.Ser852Asn)	ZNF644 (S852N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197406	NM_201269.3(ZNF644):c.2552A>T (p.Asp851Val)	ZNF644 (D851V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223793	NM_201269.3(ZNF644):c.2515G>C (p.Val839Leu)	ZNF644 (V839L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197405	NM_201269.3(ZNF644):c.2435T>A (p.Ile812Asn)	ZNF644 (I812N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268829	NM_201269.3(ZNF644):c.2414G>A (p.Arg805His)	ZNF644 (R805H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362466	NM_201269.3(ZNF644):c.2380G>A (p.Ala794Thr)	ZNF644 (A794T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3259019	NM_201269.3(ZNF644):c.2342C>T (p.Ser781Phe)	ZNF644 (S781F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611916	NM_201269.3(ZNF644):c.2335A>C (p.Ser779Arg)	ZNF644 (S779R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278586	NM_201269.3(ZNF644):c.2291A>G (p.Glu764Gly)	ZNF644 (E764G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040181	NM_201269.3(ZNF644):c.2201C>A (p.Ala734Glu)	ZNF644 (A734E)	Single nucleotide variant (missense variant +1 more)	ZNF644-related disorder	GBenign
Select item 931640	NM_201269.3(ZNF644):c.2168A>G (p.His723Arg)	ZNF644 (H723R)	Single nucleotide variant (missense variant +1 more)	Myopia 21, autosomal dominant	GUncertain significance
Select item 3259020	NM_201269.3(ZNF644):c.2162A>G (p.Tyr721Cys)	ZNF644 (Y721C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197404	NM_201269.3(ZNF644):c.2134A>G (p.Lys712Glu)	ZNF644 (K712E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590191	NM_201269.3(ZNF644):c.2131A>G (p.Ile711Val)	ZNF644 (I711V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 789149	NM_201269.3(ZNF644):c.2119A>G (p.Lys707Glu)	ZNF644 (K707E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2252856	NM_201269.3(ZNF644):c.2074G>T (p.Ala692Ser)	ZNF644 (A692S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 31107	NM_201269.3(ZNF644):c.2014A>G (p.Ser672Gly)	ZNF644 (S672G)	Single nucleotide variant (missense variant +1 more)	Myopia 21, autosomal dominant	GPathogenic
Select item 2507116	NM_201269.3(ZNF644):c.1997G>A (p.Gly666Glu)	ZNF644 (G666E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2308431	NM_201269.3(ZNF644):c.1962C>A (p.Asn654Lys)	ZNF644 (N654K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259027	NM_201269.3(ZNF644):c.1948A>G (p.Thr650Ala)	ZNF644 (T650A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259028	NM_201269.3(ZNF644):c.1906G>C (p.Asp636His)	ZNF644 (D636H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260697	NM_201269.3(ZNF644):c.1816G>A (p.Glu606Lys)	ZNF644 (E606K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593848	NM_201269.3(ZNF644):c.1814C>T (p.Thr605Met)	ZNF644 (T605M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 31108	NM_201269.3(ZNF644):c.1759A>G (p.Ile587Val)	ZNF644 (I587V)	Single nucleotide variant (missense variant +1 more)	Myopia 21, autosomal dominant	GPathogenic
Select item 3030243	NM_201269.3(ZNF644):c.1703_1706del (p.Lys568fs)	ZNF644 (K568fs)	Deletion (frameshift variant +1 more)	ZNF644-related disorder	GUncertain significance
Select item 780247	NM_201269.3(ZNF644):c.1696A>T (p.Thr566Ser)	ZNF644 (T566S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2295285	NM_201269.3(ZNF644):c.1694A>G (p.Lys565Arg)	ZNF644 (K565R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780248	NM_201269.3(ZNF644):c.1666A>G (p.Met556Val)	ZNF644 (M556V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2554964	NM_201269.3(ZNF644):c.1529C>T (p.Thr510Ile)	ZNF644 (T510I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321826	NM_201269.3(ZNF644):c.1517A>G (p.Asn506Ser)	ZNF644 (N506S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467144	NM_201269.3(ZNF644):c.1247A>G (p.Asn416Ser)	ZNF644 (N416S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 749891	NM_201269.3(ZNF644):c.1230C>T (p.Tyr410=)	ZNF644	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3057105	NM_201269.3(ZNF644):c.1212C>T (p.Thr404=)	ZNF644	Single nucleotide variant (synonymous variant +1 more)	ZNF644-related disorder	GBenign
Select item 3259022	NM_201269.3(ZNF644):c.1211C>T (p.Thr404Ile)	ZNF644 (T404I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3357055	NM_201269.3(ZNF644):c.1206C>G (p.Phe402Leu)	ZNF644 (F402L)	Single nucleotide variant (missense variant +1 more)	ZNF644-related disorder	GUncertain significance
Select item 2429728	NM_201269.3(ZNF644):c.1145T>C (p.Phe382Ser)	ZNF644 (F382S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2327161	NM_201269.3(ZNF644):c.1124C>T (p.Ser375Leu)	ZNF644 (S375L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2438691	NM_201269.3(ZNF644):c.1100C>T (p.Pro367Leu)	ZNF644 (P367L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2204396	NM_201269.3(ZNF644):c.1069G>A (p.Val357Met)	ZNF644 (V357M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3251566	NM_201269.3(ZNF644):c.1052A>T (p.Asp351Val)	ZNF644 (D351V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371979	NM_201269.3(ZNF644):c.1049C>T (p.Thr350Ile)	ZNF644 (T350I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197402	NM_201269.3(ZNF644):c.1000G>A (p.Ala334Thr)	ZNF644 (A334T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352827	NM_201269.3(ZNF644):c.959T>C (p.Met320Thr)	ZNF644 (M320T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364207	NM_201269.3(ZNF644):c.905G>A (p.Arg302His)	ZNF644 (R302H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 432490	NM_201269.3(ZNF644):c.904C>T (p.Arg302Cys)	ZNF644 (R302C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3259025	NM_201269.3(ZNF644):c.887A>G (p.Asp296Gly)	ZNF644 (D296G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788716	NM_201269.3(ZNF644):c.801A>G (p.Gln267=)	ZNF644	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1305275	NM_201269.3(ZNF644):c.780_781delinsATGATACAAA (p.Asp260_Pro261delinsGluTer)	ZNF644	Indel (nonsense +1 more)	not provided	GUncertain significance
Select item 3197419	NM_201269.3(ZNF644):c.767A>G (p.Asp256Gly)	ZNF644 (D256G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297248	NM_201269.3(ZNF644):c.755G>A (p.Arg252Lys)	ZNF644 (R252K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305337	NM_201269.3(ZNF644):c.719C>T (p.Thr240Ile)	ZNF644 (T240I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259026	NM_201269.3(ZNF644):c.678G>C (p.Glu226Asp)	ZNF644 (E226D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529844	NM_201269.3(ZNF644):c.670G>A (p.Val224Met)	ZNF644 (V224M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197417	NM_201269.3(ZNF644):c.664G>A (p.Val222Ile)	ZNF644 (V222I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313178	NM_201269.3(ZNF644):c.644A>G (p.Asp215Gly)	ZNF644 (D215G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638926	NM_201269.3(ZNF644):c.639G>A (p.Lys213=)	ZNF644	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2590185	NM_201269.3(ZNF644):c.575A>C (p.Lys192Thr)	ZNF644 (K192T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197416	NM_201269.3(ZNF644):c.566A>C (p.His189Pro)	ZNF644 (H189P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317725	NM_201269.3(ZNF644):c.560C>T (p.Pro187Leu)	ZNF644 (P187L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538089	NM_201269.3(ZNF644):c.554A>G (p.Lys185Arg)	ZNF644 (K185R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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