ZNF597[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 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	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	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 149298	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3	ADCY9, C16orf90 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 2407179	NM_152457.3(ZNF597):c.1255C>T (p.His419Tyr)	ZNF597 (H419Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197067	NM_152457.3(ZNF597):c.1223C>T (p.Ser408Leu)	ZNF597 (S408L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197066	NM_152457.3(ZNF597):c.1201G>A (p.Val401Met)	ZNF597 (V401M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385224	NM_152457.3(ZNF597):c.1127A>G (p.Glu376Gly)	ZNF597 (E376G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780017	NM_152457.3(ZNF597):c.1122C>T (p.Cys374=)	ZNF597	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2598378	NM_152457.3(ZNF597):c.1095G>C (p.Glu365Asp)	ZNF597 (E365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621473	NM_152457.3(ZNF597):c.1025A>G (p.Gln342Arg)	ZNF597 (Q342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768744	NM_152457.3(ZNF597):c.963C>T (p.Asp321=)	ZNF597	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2371409	NM_152457.3(ZNF597):c.958G>A (p.Glu320Lys)	ZNF597 (E320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375951	NM_152457.3(ZNF597):c.908A>G (p.Lys303Arg)	ZNF597 (K303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298508	NM_152457.3(ZNF597):c.871G>A (p.Val291Ile)	ZNF597 (V291I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310067	NM_152457.3(ZNF597):c.844A>G (p.Asn282Asp)	ZNF597 (N282D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623012	NM_152457.3(ZNF597):c.686G>A (p.Arg229Gln)	ZNF597 (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210500	NM_152457.3(ZNF597):c.665G>A (p.Arg222His)	ZNF597 (R222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197069	NM_152457.3(ZNF597):c.658A>G (p.Ser220Gly)	ZNF597 (S220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390860	NM_152457.3(ZNF597):c.322G>C (p.Gly108Arg)	ZNF597 (G108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350147	NM_152457.3(ZNF597):c.301C>A (p.Pro101Thr)	ZNF597 (P101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550948	NM_152457.3(ZNF597):c.184A>C (p.Asn62His)	ZNF597 (N62H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197065	NM_152457.3(ZNF597):c.105G>T (p.Gln35His)	ZNF597 (Q35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611990	NM_152457.3(ZNF597):c.42A>G (p.Ile14Met)	ZNF597 (I14M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264027	NM_152457.3(ZNF597):c.17C>T (p.Pro6Leu)	ZNF597 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601766	NM_152457.3(ZNF597):c.10A>C (p.Met4Leu)	ZNF597 (M4L)	Single nucleotide variant (missense variant)	not specified	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	ADCY9, ANKS3 +52 more	Copy number loss	not provided	GPathogenic
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 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	NUDT16L1, MEFV +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +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 1455963	NC_000016.9:g.(?_3293141)_(3929917_?)del	C16orf90, CLUAP1 +15 more	Deletion	Rubinstein-Taybi syndrome	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 688768	GRCh37/hg19 16p13.3(chr16:3469027-4328143)x3	ADCY9, C16orf90 +10 more	Copy number gain	not provided	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 564259	GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3	NAA60, MTRNR2L4 +15 more	Copy number gain	not provided	GUncertain significance
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 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	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +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 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	DPEP2, DPEP3 +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)	ITGAM, NPIPA3 +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: 66