ClinVar for Gene (Select 7755) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335111	NM_001042428.2(ZNF205):c.754G>A (p.Gly252Arg)	ZNF205 (G252R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335110	NM_001042428.2(ZNF205):c.124G>A (p.Asp42Asn)	ZNF205, ZNF205-AS1 (D42N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335109	NM_001042428.2(ZNF205):c.551G>A (p.Ser184Asn)	ZNF205 (S184N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335108	NM_001042428.2(ZNF205):c.517C>G (p.Gln173Glu)	ZNF205 (Q173E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335107	NM_001042428.2(ZNF205):c.788C>G (p.Ala263Gly)	ZNF205 (A263G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335106	NM_001042428.2(ZNF205):c.677G>A (p.Gly226Glu)	ZNF205 (G226E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335105	NM_001042428.2(ZNF205):c.205G>C (p.Gly69Arg)	ZNF205, ZNF205-AS1 (G69R)	Single nucleotide variant (missense variant +1 more)	not specified	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 3194326	NM_001042428.2(ZNF205):c.902G>A (p.Ser301Asn)	ZNF205 (S301N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194325	NM_001042428.2(ZNF205):c.601G>A (p.Val201Ile)	ZNF205 (V201I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3194323	NM_001042428.2(ZNF205):c.256T>C (p.Phe86Leu)	ZNF205, ZNF205-AS1 (F86L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194322	NM_001042428.2(ZNF205):c.191A>T (p.Glu64Val)	ZNF205, ZNF205-AS1 (E64V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194321	NM_001042428.2(ZNF205):c.1285T>C (p.Phe429Leu)	ZNF205 (F429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194320	NM_001042428.2(ZNF205):c.1218C>G (p.Asp406Glu)	ZNF205 (D406E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194319	NM_001042428.2(ZNF205):c.1205C>T (p.Thr402Ile)	ZNF205 (T402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194318	NM_001042428.2(ZNF205):c.109G>A (p.Ala37Thr)	ZNF205, ZNF205-AS1 (A37T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063409	GRCh37/hg19 16p13.3(chr16:3112024-3506789)x3	IL32, MEFV +14 more	Copy number gain	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, CORO7-PAM16 +52 more	Copy number loss	not provided	GPathogenic
Select item 3024594	GRCh37/hg19 16p13.3(chr16:2979687-3220680)x3	BICDL2, CLDN6 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2613005	NM_001042428.2(ZNF205):c.293C>T (p.Pro98Leu)	ZNF205 (P98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603493	NM_001042428.2(ZNF205):c.32C>G (p.Thr11Ser)	ZNF205, ZNF205-AS1 (T11S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597822	NM_001042428.2(ZNF205):c.542C>T (p.Ser181Leu)	ZNF205 (S181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588182	NM_001042428.2(ZNF205):c.887G>C (p.Gly296Ala)	ZNF205 (G296A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552777	NM_001042428.2(ZNF205):c.79C>T (p.His27Tyr)	ZNF205, ZNF205-AS1 (H27Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543532	NM_001042428.2(ZNF205):c.286C>T (p.Arg96Trp)	ZNF205 (R96W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526107	NM_001042428.2(ZNF205):c.185C>T (p.Ser62Leu)	ZNF205, ZNF205-AS1 (S62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523207	NM_001042428.2(ZNF205):c.779C>T (p.Thr260Ile)	ZNF205 (T260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513297	NM_001042428.2(ZNF205):c.1448A>G (p.Lys483Arg)	ZNF205 (K483R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467894	NM_001042428.2(ZNF205):c.706G>A (p.Ala236Thr)	ZNF205 (A236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460412	NM_001042428.2(ZNF205):c.727C>G (p.Arg243Gly)	ZNF205 (R243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458076	NM_001042428.2(ZNF205):c.1025G>A (p.Gly342Glu)	ZNF205 (G342E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2410129	NM_001042428.2(ZNF205):c.379G>A (p.Glu127Lys)	ZNF205 (E127K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407308	NM_001042428.2(ZNF205):c.160G>A (p.Glu54Lys)	ZNF205, ZNF205-AS1 (E54K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398293	NM_001042428.2(ZNF205):c.341C>T (p.Ala114Val)	ZNF205 (A114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374543	NM_001042428.2(ZNF205):c.49C>T (p.Pro17Ser)	ZNF205, ZNF205-AS1 (P17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352112	NM_001042428.2(ZNF205):c.1030C>T (p.Arg344Cys)	ZNF205 (R344C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340523	NM_001042428.2(ZNF205):c.875G>A (p.Ser292Asn)	ZNF205 (S292N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326154	NM_001042428.2(ZNF205):c.620T>G (p.Val207Gly)	ZNF205 (V207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310055	NM_001042428.2(ZNF205):c.325C>G (p.Arg109Gly)	ZNF205 (R109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297122	NM_001042428.2(ZNF205):c.731G>T (p.Ser244Ile)	ZNF205 (S244I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286705	NM_001042428.2(ZNF205):c.1565A>T (p.His522Leu)	ZNF205 (H522L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280827	NM_001042428.2(ZNF205):c.1171C>G (p.Pro391Ala)	ZNF205 (P391A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263873	NM_001042428.2(ZNF205):c.871G>A (p.Glu291Lys)	ZNF205 (E291K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257885	NM_001042428.2(ZNF205):c.631T>A (p.Ser211Thr)	ZNF205 (S211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248626	NM_001042428.2(ZNF205):c.1429C>T (p.His477Tyr)	ZNF205 (H477Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243480	NM_001042428.2(ZNF205):c.378C>A (p.Phe126Leu)	ZNF205 (F126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238902	NM_001042428.2(ZNF205):c.567T>A (p.Asp189Glu)	ZNF205 (D189E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220316	NM_001042428.2(ZNF205):c.545G>A (p.Gly182Asp)	ZNF205 (G182D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212656	NM_001042428.2(ZNF205):c.518A>T (p.Gln173Leu)	ZNF205 (Q173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 689245	GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3	C16orf90, CLUAP1 +20 more	Copy number gain	not provided	GUncertain significance
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 624490	GRCh37/hg19 16p13.3(chr16:3100528-3305985)x3	IL32, MEFV +6 more	Copy number gain	not provided	GLikely benign
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	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 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	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 442735	GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3	BICDL2, CLDN6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 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 253729	GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3	C16orf90, CLUAP1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 253470	GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3	BICDL2, C16orf90 +36 more	Copy number gain	See cases	GPathogenic
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
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 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	GUncertain significance
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 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +148 more	Copy number loss	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 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 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 91