ZNF598[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58604	GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3	FAHD1, GFER +40 more	Copy number gain	See cases	GPathogenic
Select item 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 3197074	NM_178167.5(ZNF598):c.2495C>T (p.Thr832Met)	ZNF598 (T826M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511079	NM_178167.5(ZNF598):c.2401G>A (p.Asp801Asn)	ZNF598 (D795N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404407	NM_178167.5(ZNF598):c.2375C>T (p.Ala792Val)	ZNF598 (A802V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376303	NM_178167.5(ZNF598):c.2338A>G (p.Ser780Gly)	ZNF598 (S774G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258848	NM_178167.5(ZNF598):c.2198C>T (p.Thr733Ile)	ZNF598 (T727I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219828	NM_178167.5(ZNF598):c.2189C>T (p.Ala730Val)	ZNF598 (A724V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258851	NM_178167.5(ZNF598):c.2176G>C (p.Val726Leu)	ZNF598 (V720L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554142	NM_178167.5(ZNF598):c.2153T>C (p.Leu718Pro)	ZNF598 (L712P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197073	NM_178167.5(ZNF598):c.2135C>T (p.Pro712Leu)	ZNF598 (P712L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544183	NM_178167.5(ZNF598):c.2131C>T (p.Pro711Ser)	ZNF598 (P705S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479344	NM_178167.5(ZNF598):c.2014C>T (p.Leu672Phe)	ZNF598 (L666F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349670	NM_178167.5(ZNF598):c.1993C>T (p.Pro665Ser)	ZNF598 (P675S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645961	NM_178167.5(ZNF598):c.1919C>T (p.Pro640Leu)	ZNF598 (P634L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645962	NM_178167.5(ZNF598):c.1890C>T (p.Ala630=)	ZNF598	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2348701	NM_178167.5(ZNF598):c.1819C>T (p.Pro607Ser)	ZNF598 (P607S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550902	NM_178167.5(ZNF598):c.1784C>T (p.Ser595Leu)	ZNF598 (S595L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197072	NM_178167.5(ZNF598):c.1781G>A (p.Gly594Asp)	ZNF598 (G588D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328611	NM_178167.5(ZNF598):c.1776A>C (p.Lys592Asn)	ZNF598 (K586N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213906	NM_178167.5(ZNF598):c.1715C>G (p.Ser572Cys)	ZNF598 (S566C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258846	NM_178167.5(ZNF598):c.1712G>A (p.Gly571Asp)	ZNF598 (G565D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492825	NM_178167.5(ZNF598):c.1697G>C (p.Ser566Thr)	ZNF598 (S566T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460217	NM_178167.5(ZNF598):c.1640C>T (p.Pro547Leu)	ZNF598 (P557L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535255	NM_178167.5(ZNF598):c.1558C>G (p.Pro520Ala)	ZNF598 (P514A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258845	NM_178167.5(ZNF598):c.1463C>T (p.Ala488Val)	ZNF598 (A482V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302209	NM_178167.5(ZNF598):c.1438G>A (p.Ala480Thr)	ZNF598 (A474T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2487008	NM_178167.5(ZNF598):c.1397G>T (p.Gly466Val)	ZNF598 (G460V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352826	NM_178167.5(ZNF598):c.1388G>A (p.Gly463Asp)	ZNF598 (G463D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604297	NM_178167.5(ZNF598):c.1205C>A (p.Pro402His)	ZNF598 (P402H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197071	NM_178167.5(ZNF598):c.1152G>C (p.Glu384Asp)	ZNF598 (E384D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645963	NM_178167.5(ZNF598):c.1140G>A (p.Ala380=)	ZNF598	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3197070	NM_178167.5(ZNF598):c.1051G>T (p.Ala351Ser)	ZNF598 (A351S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197076	NM_178167.5(ZNF598):c.931A>G (p.Arg311Gly)	ZNF598 (R321G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600555	NM_178167.5(ZNF598):c.884G>A (p.Arg295His)	ZNF598 (R295H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197075	NM_178167.5(ZNF598):c.494C>T (p.Ser165Leu)	ZNF598 (S165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258850	NM_178167.5(ZNF598):c.449G>T (p.Cys150Phe)	ZNF598 (C150F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268523	NM_178167.5(ZNF598):c.197C>T (p.Ala66Val)	ZNF598 (A66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768739	NM_178167.5(ZNF598):c.122_123= (p.Leu41=)	ZNF598	Variation (no sequence alteration)	not provided	GBenign
Select item 3258847	NM_178167.5(ZNF598):c.106C>G (p.Leu36Val)	ZNF598 (L36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243466	NC_000016.9:g.(?_1607916)_(2130398_?)dup	CRAMP1, EME2 +27 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2423309	NC_000016.9:g.(?_2034220)_(2152787_?)del	MIR1225, NHERF2 +7 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808105	GRCh37/hg19 16p13.3(chr16:2021144-2146432)x1	GFER, MIR1225 +9 more	Copy number loss	not provided	GPathogenic
Select item 1807728	GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1	BRICD5, CASKIN1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1459269	NC_000016.9:g.(?_2003468)_(2126543_?)del	GFER, NDUFB10 +12 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1455610	NC_000016.9:g.(?_2029297)_(2096295_?)del	GFER, NHERF2 +5 more	Deletion	not provided	GPathogenic
Select item 1455115	NC_000016.9:g.(?_2034220)_(2136892_?)del	SYNGR3, GFER +5 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980582	GRCh37/hg19 16p13.3(chr16:2011148-2161281)x3	GFER, MIR1225 +13 more	Copy number gain	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	EME2, FAHD1 +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 831814	NC_000016.10:g.(?_1523498)_(2064447_?)del	MAPK8IP3, MEIOB +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 689437	Single allele	CRAMP1, EME2 +28 more	Inversion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	ANTKMT, BAIAP3 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564257	GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	BRICD5, CASKIN1 +34 more	Copy number loss	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253874	GRCh37/hg19 16p13.3(chr16:1860861-2070554)x3	MEIOB, FAHD1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 96