ZNF691[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	LOC129930347, LOC129930348 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 152832	GRCh38/hg38 1p34.2(chr1:42653385-43093829)x1	C1orf50, CCDC30 +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 2614439	NM_001242739.2(ZNF691):c.19A>G (p.Thr7Ala)	ZNF691 (T7A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2592590	NM_001242739.2(ZNF691):c.43T>C (p.Phe15Leu)	ZNF691 (F15L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368977	NM_001242739.2(ZNF691):c.56C>G (p.Pro19Arg)	ZNF691 (P19R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455946	NM_001242739.2(ZNF691):c.143G>A (p.Gly48Glu)	ZNF691 (G17E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213618	NM_001242739.2(ZNF691):c.152G>A (p.Gly51Asp)	ZNF691 (G20D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285993	NM_001242739.2(ZNF691):c.181G>T (p.Gly61Cys)	ZNF691 (G61C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386713	NM_001242739.2(ZNF691):c.197C>A (p.Pro66His)	ZNF691 (P35H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406575	NM_001242739.2(ZNF691):c.260A>T (p.Lys87Met)	ZNF691 (K87M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287338	NM_001242739.2(ZNF691):c.311C>T (p.Ala104Val)	ZNF691 (A104V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479611	NM_001242739.2(ZNF691):c.487C>T (p.Arg163Trp)	ZNF691 (R132W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274939	NM_001242739.2(ZNF691):c.541C>T (p.Arg181Trp)	ZNF691 (R150W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325582	NM_001242739.2(ZNF691):c.547C>T (p.Arg183Cys)	ZNF691 (R152C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550104	NM_001242739.2(ZNF691):c.625A>C (p.Ser209Arg)	ZNF691 (S178R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411496	NM_001242739.2(ZNF691):c.758G>A (p.Arg253Lys)	ZNF691 (R253K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409269	NM_001242739.2(ZNF691):c.850C>T (p.Arg284Trp)	ZNF691 (R253W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244504	NM_001242739.2(ZNF691):c.863G>T (p.Cys288Phe)	ZNF691 (C288F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309832	NM_001242739.2(ZNF691):c.890A>G (p.Asn297Ser)	ZNF691 (N266S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310716	NM_001242739.2(ZNF691):c.922G>A (p.Glu308Lys)	ZNF691 (E308K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 30