ZNF143[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 150273	GRCh38/hg38 11p15.4(chr11:9166889-9494694)x3	DENND5A, IPO7 +20 more	Copy number gain	See cases	GUncertain significance
Select item 2518974	NM_003442.6(ZNF143):c.23G>A (p.Arg8Gln)	ZNF143 (R8Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2975751	NM_003442.6(ZNF143):c.45G>A (p.Glu15=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148788	NM_003442.6(ZNF143):c.69G>T (p.Ala23=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394800	NM_003442.6(ZNF143):c.106G>A (p.Val36Met)	ZNF143 (V36M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1280416	NM_003442.6(ZNF143):c.112+132dup	ZNF143	Duplication (intron variant)	not provided	GBenign
Select item 1274421	NM_003442.6(ZNF143):c.112+133G>T	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248292	NM_003442.6(ZNF143):c.112+184G>A	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235634	NM_003442.6(ZNF143):c.113-188T>A	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228189	NM_003442.6(ZNF143):c.113-158C>T	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2998310	NM_003442.6(ZNF143):c.113-15A>G	ZNF143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003543	NM_003442.6(ZNF143):c.113-7del	ZNF143	Deletion (intron variant)	not provided	GLikely benign
Select item 1933641	NM_003442.6(ZNF143):c.113-5A>G	ZNF143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1382101	NM_003442.6(ZNF143):c.113-4A>G	ZNF143	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2796151	NM_003442.6(ZNF143):c.123C>G (p.Asn41Lys)	ZNF143 (N41K)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2379726	NM_003442.6(ZNF143):c.134T>C (p.Met45Thr)	ZNF143 (M45T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2826578	NM_003442.6(ZNF143):c.148T>G (p.Leu50Val)	ZNF143 (L50V)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2269194	NM_003442.6(ZNF143):c.150G>T (p.Leu50Phe)	ZNF143 (L50F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508065	NM_003442.6(ZNF143):c.167C>G (p.Ala56Gly)	ZNF143 (A56G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1602870	NM_003442.6(ZNF143):c.205+16A>G	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287822	NM_003442.6(ZNF143):c.205+162dup	ZNF143	Duplication (intron variant)	not provided	GBenign
Select item 3031944	NM_003442.6(ZNF143):c.206-4A>C	ZNF143	Single nucleotide variant (intron variant)	ZNF143-related condition	GLikely benign
Select item 3003232	NM_003442.6(ZNF143):c.208G>A (p.Ala70Thr)	ZNF143 (A39T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109222	NM_003442.6(ZNF143):c.271G>A (p.Val91Ile)	ZNF143 (V60I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903249	NM_003442.6(ZNF143):c.272T>C (p.Val91Ala)	ZNF143 (V60A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2325842	NM_003442.6(ZNF143):c.281C>T (p.Pro94Leu)	ZNF143 (P94L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2070351	NM_003442.6(ZNF143):c.282T>C (p.Pro94=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1223021	NM_003442.6(ZNF143):c.290-136A>T	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2176835	NM_003442.6(ZNF143):c.322G>A (p.Ala108Thr)	ZNF143 (A77T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2370694	NM_003442.6(ZNF143):c.325G>A (p.Val109Ile)	ZNF143 (V109I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1980511	NM_003442.6(ZNF143):c.363C>T (p.His121=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1234362	NM_003442.6(ZNF143):c.374-117G>A	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1933308	NM_003442.6(ZNF143):c.374-17C>T	ZNF143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998101	NM_003442.6(ZNF143):c.389G>A (p.Ser130Asn)	ZNF143 (S129N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1650139	NM_003442.6(ZNF143):c.402G>A (p.Ala134=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1609938	NM_003442.6(ZNF143):c.408G>A (p.Gln136=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009433	NM_003442.6(ZNF143):c.422C>T (p.Thr141Ile)	ZNF143 (T140I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481124	NM_003442.6(ZNF143):c.431A>T (p.Tyr144Phe)	ZNF143 (Y113F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942320	NM_003442.6(ZNF143):c.492G>A (p.Gly164=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071305	NM_003442.6(ZNF143):c.516G>A (p.Gly172=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674666	NM_003442.6(ZNF143):c.525A>G (p.Thr175=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 768424	NM_003442.6(ZNF143):c.570+5A>G	ZNF143	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2066488	NM_003442.6(ZNF143):c.570+6G>C	ZNF143	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1583011	NM_003442.6(ZNF143):c.570+7C>T	ZNF143	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2794783	NM_003442.6(ZNF143):c.570+15A>T	ZNF143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962142	NM_003442.6(ZNF143):c.570+16A>G	ZNF143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958441	NM_003442.6(ZNF143):c.570+17T>C	ZNF143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244617	NM_003442.6(ZNF143):c.571-79C>G	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2070200	NM_003442.6(ZNF143):c.578T>C (p.Ile193Thr)	ZNF143 (I162T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998273	NM_003442.6(ZNF143):c.593G>C (p.Ser198Thr)	ZNF143 (S167T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2327160	NM_003442.6(ZNF143):c.631G>A (p.Glu211Lys)	ZNF143 (E180K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2955743	NM_003442.6(ZNF143):c.645+18T>C	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182147	NM_003442.6(ZNF143):c.645+175T>C	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287265	NM_003442.6(ZNF143):c.645+181G>T	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280956	NM_003442.6(ZNF143):c.646-7T>C	ZNF143	Single nucleotide variant (intron variant)	ZNF143-related condition +1 more	GBenign
Select item 2238782	NM_003442.6(ZNF143):c.706G>C (p.Ala236Pro)	ZNF143 (A205P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262823	NM_003442.6(ZNF143):c.757C>G (p.His253Asp)	ZNF143 (H253D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1246029	NM_003442.6(ZNF143):c.766-193A>G	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266407	NM_003442.6(ZNF143):c.842-48T>C	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2136308	NM_003442.6(ZNF143):c.851T>G (p.Leu284Ter)	ZNF143 (L284* +2 more)	Single nucleotide variant (nonsense)	Disorders of Intracellular Cobalamin Metabolism	Gnot provided
Select item 2722041	NM_003442.6(ZNF143):c.870T>G (p.Thr290=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415094	NM_003442.6(ZNF143):c.900G>A (p.Ser300=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787374	NM_003442.6(ZNF143):c.918A>G (p.Lys306=)	ZNF143	Single nucleotide variant (synonymous variant)	ZNF143-related condition +1 more	GBenign
Select item 1972829	NM_003442.6(ZNF143):c.926A>G (p.Lys309Arg)	ZNF143 (K278R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1622751	NM_003442.6(ZNF143):c.942A>G (p.Leu314=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065768	NM_003442.6(ZNF143):c.967+8T>C	ZNF143	Single nucleotide variant (intron variant)	ZNF143-related condition +1 more	GBenign/Likely benign
Select item 1251766	NM_003442.6(ZNF143):c.967+28C>T	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291754	NM_003442.6(ZNF143):c.967+47_967+48del	ZNF143	Deletion (intron variant)	not provided	GBenign
Select item 1238096	NM_003442.6(ZNF143):c.967+48del	ZNF143	Deletion (intron variant)	not provided	GBenign
Select item 1230714	NM_003442.6(ZNF143):c.967+62G>A	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261190	NM_003442.6(ZNF143):c.967+73T>C	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262165	NM_003442.6(ZNF143):c.967+117G>A	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276479	NM_003442.6(ZNF143):c.967+187T>C	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291629	NM_003442.6(ZNF143):c.968-173T>C	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276358	NM_003442.6(ZNF143):c.968-144C>A	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220734	NM_003442.6(ZNF143):c.968-140C>G	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263674	NM_003442.6(ZNF143):c.968-71T>C	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1619340	NM_003442.6(ZNF143):c.978C>T (p.Pro326=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894082	NM_003442.6(ZNF143):c.993C>T (p.Phe331=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530026	NM_003442.6(ZNF143):c.1007G>A (p.Arg336Gln)	ZNF143 (R336Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136309	NM_003442.6(ZNF143):c.1019C>T (p.Thr340Ile)	ZNF143 (T339I +2 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism	Gnot provided
Select item 2236090	NM_003442.6(ZNF143):c.1042G>A (p.Val348Ile)	ZNF143 (V347I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2034840	NM_003442.6(ZNF143):c.1044T>A (p.Val348=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1905198	NM_003442.6(ZNF143):c.1075T>C (p.Cys359Arg)	ZNF143 (C358R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897786	NM_003442.6(ZNF143):c.1131T>C (p.His377=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2251819	NM_003442.6(ZNF143):c.1132G>A (p.Val378Met)	ZNF143 (V377M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1182721	NM_003442.6(ZNF143):c.1148-204G>A	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246848	NM_003442.6(ZNF143):c.1148-152G>A	ZNF143	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3017830	NM_003442.6(ZNF143):c.1187A>G (p.Lys396Arg)	ZNF143 (K365R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714132	NM_003442.6(ZNF143):c.1290C>T (p.Ser430=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972209	NM_003442.6(ZNF143):c.1293G>A (p.Thr431=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966900	NM_003442.6(ZNF143):c.1311G>A (p.Arg437=)	ZNF143	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2240481	NM_003442.6(ZNF143):c.1321A>T (p.Asn441Tyr)	ZNF143 (N440Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206084	NM_003442.6(ZNF143):c.1355C>T (p.Ala452Val)	ZNF143 (A421V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2132766	NM_003442.6(ZNF143):c.1375+10T>G	ZNF143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926836	NM_003442.6(ZNF143):c.1375+17C>T	ZNF143	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 768425	NM_003442.6(ZNF143):c.1382G>A (p.Gly461Asp)	ZNF143 (G430D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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