ZNF684[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
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 2261525	NM_152373.4(ZNF684):c.17A>G (p.Glu6Gly)	ZNF684 (E6G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337728	NM_152373.4(ZNF684):c.74T>C (p.Leu25Pro)	ZNF684 (L25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557906	NM_152373.4(ZNF684):c.133A>G (p.Ile45Val)	ZNF684 (I45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197729	NM_152373.4(ZNF684):c.178G>A (p.Val60Ile)	ZNF684 (V60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197730	NM_152373.4(ZNF684):c.211G>A (p.Gly71Arg)	ZNF684 (G71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261845	NM_152373.4(ZNF684):c.265C>T (p.Pro89Ser)	ZNF684 (P89S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2387086	NM_152373.4(ZNF684):c.277C>T (p.Arg93Trp)	ZNF684 (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638723	NM_152373.4(ZNF684):c.492C>T (p.Cys164=)	ZNF684	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3197731	NM_152373.4(ZNF684):c.500C>G (p.Ala167Gly)	ZNF684 (A167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376813	NM_152373.4(ZNF684):c.538A>C (p.Asn180His)	ZNF684 (N180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267331	NM_152373.4(ZNF684):c.583G>A (p.Ala195Thr)	ZNF684 (A195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197732	NM_152373.4(ZNF684):c.601C>T (p.His201Tyr)	ZNF684 (H201Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197733	NM_152373.4(ZNF684):c.640C>T (p.Pro214Ser)	ZNF684 (P214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197734	NM_152373.4(ZNF684):c.641C>G (p.Pro214Arg)	ZNF684 (P214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197735	NM_152373.4(ZNF684):c.688C>A (p.Leu230Ile)	ZNF684 (L230I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400698	NM_152373.4(ZNF684):c.724C>A (p.Pro242Thr)	ZNF684 (P242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533515	NM_152373.4(ZNF684):c.757A>C (p.Thr253Pro)	ZNF684 (T253P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464050	NM_152373.4(ZNF684):c.772T>C (p.Phe258Leu)	ZNF684 (F258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307961	NM_152373.4(ZNF684):c.799C>T (p.Leu267Phe)	ZNF684 (L267F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620107	NM_152373.4(ZNF684):c.809C>T (p.Ser270Leu)	ZNF684 (S270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329094	NM_152373.4(ZNF684):c.864A>T (p.Lys288Asn)	ZNF684 (K288N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326088	NM_152373.4(ZNF684):c.970G>A (p.Glu324Lys)	ZNF684 (E324K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555717	NM_152373.4(ZNF684):c.1060C>G (p.Pro354Ala)	ZNF684 (P354A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303153	NM_152373.4(ZNF684):c.1097A>G (p.Gln366Arg)	ZNF684 (Q366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259199	NM_152373.4(ZNF684):c.1114G>C (p.Val372Leu)	ZNF684 (V372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, GUCA2A +20 more	Copy number loss	not provided	GUncertain significance
Select item 1808029	GRCh37/hg19 1p34.2(chr1:40758393-41009559)x1	COL9A2, EXO5 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
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	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442493	GRCh37/hg19 1p34.2(chr1:40962859-41375802)x1	CITED4, EXO5 +5 more	Copy number loss	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 254027	GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1	ZFP69, EDN2 +12 more	Copy number loss	See cases	GUncertain significance

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Items: 40