ZNF213[gene] - ClinVar

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Items: 85

	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 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 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 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	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 2515542	NM_004220.3(ZNF213):c.46G>A (p.Glu16Lys)	ZNF213 (E16K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557991	NM_004220.3(ZNF213):c.104A>G (p.His35Arg)	ZNF213 (H35R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292838	NM_004220.3(ZNF213):c.133C>T (p.Arg45Cys)	ZNF213 (R45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204915	NM_004220.3(ZNF213):c.146G>A (p.Arg49Gln)	ZNF213 (R49Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785519	NM_004220.3(ZNF213):c.150A>G (p.Gln50=)	ZNF213	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3335143	NM_004220.3(ZNF213):c.164A>T (p.Asp55Val)	ZNF213 (D55V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304175	NM_004220.3(ZNF213):c.215G>A (p.Arg72His)	ZNF213 (R72H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554132	NM_004220.3(ZNF213):c.236G>A (p.Arg79His)	ZNF213 (R79H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3335144	NM_004220.3(ZNF213):c.316C>T (p.Arg106Cys)	ZNF213 (R106C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194384	NM_004220.3(ZNF213):c.317G>A (p.Arg106His)	ZNF213 (R106H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194385	NM_004220.3(ZNF213):c.319G>A (p.Glu107Lys)	ZNF213 (E107K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608636	NM_004220.3(ZNF213):c.343G>A (p.Glu115Lys)	ZNF213 (E115K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194387	NM_004220.3(ZNF213):c.395G>A (p.Arg132Gln)	ZNF213 (R132Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542395	NM_004220.3(ZNF213):c.404T>C (p.Val135Ala)	ZNF213 (V135A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194388	NM_004220.3(ZNF213):c.407C>T (p.Pro136Leu)	ZNF213 (P136L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194389	NM_004220.3(ZNF213):c.410C>T (p.Ser137Leu)	ZNF213 (S137L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514015	NM_004220.3(ZNF213):c.439C>T (p.Arg147Trp)	ZNF213 (R147W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312200	NM_004220.3(ZNF213):c.455C>T (p.Thr152Met)	ZNF213 (T152M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194390	NM_004220.3(ZNF213):c.481C>T (p.Arg161Trp)	ZNF213 (R161W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194391	NM_004220.3(ZNF213):c.505G>C (p.Glu169Gln)	ZNF213 (E169Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310461	NM_004220.3(ZNF213):c.512A>C (p.His171Pro)	ZNF213 (H171P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556219	NM_004220.3(ZNF213):c.557C>G (p.Pro186Arg)	ZNF213 (P186R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776968	NM_004220.3(ZNF213):c.558C>T (p.Pro186=)	ZNF213	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2544947	NM_004220.3(ZNF213):c.575C>G (p.Thr192Ser)	ZNF213 (T192S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614292	NM_004220.3(ZNF213):c.590G>T (p.Gly197Val)	ZNF213 (G197V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222125	NM_004220.3(ZNF213):c.637C>T (p.Arg213Trp)	ZNF213 (R213W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308158	NM_004220.3(ZNF213):c.665C>T (p.Ala222Val)	ZNF213 (A222V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362618	NM_004220.3(ZNF213):c.671G>A (p.Arg224Gln)	ZNF213 (R224Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194393	NM_004220.3(ZNF213):c.682T>C (p.Trp228Arg)	ZNF213 (W228R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601501	NM_004220.3(ZNF213):c.686A>G (p.Asp229Gly)	ZNF213 (D229G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194394	NM_004220.3(ZNF213):c.713C>T (p.Thr238Ile)	ZNF213 (T238I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234223	NM_004220.3(ZNF213):c.806C>G (p.Thr269Ser)	ZNF213 (T269S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646102	NM_004220.3(ZNF213):c.813C>G (p.Ser271=)	ZNF213	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2604600	NM_004220.3(ZNF213):c.844A>G (p.Ser282Gly)	ZNF213 (S282G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334743	NM_004220.3(ZNF213):c.889C>G (p.Arg297Gly)	ZNF213 (R297G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335142	NM_004220.3(ZNF213):c.913C>T (p.Arg305Trp)	ZNF213 (R305W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317424	NM_004220.3(ZNF213):c.967G>A (p.Gly323Arg)	ZNF213 (G323R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474582	NM_004220.3(ZNF213):c.1204G>A (p.Gly402Ser)	ZNF213 (G402S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483361	NM_004220.3(ZNF213):c.1219G>A (p.Gly407Ser)	ZNF213 (G407S)	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 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 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	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

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Items: 85