ClinVar for Gene (Select 619279) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259289	NM_001033723.3(ZNF704):c.187G>A (p.Val63Ile)	ZNF704 (V63I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259288	NM_001033723.3(ZNF704):c.493G>A (p.Asp165Asn)	ZNF704 (D339N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197868	NM_001033723.3(ZNF704):c.365C>T (p.Pro122Leu)	ZNF704 (P296L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197867	NM_001033723.3(ZNF704):c.259G>A (p.Ala87Thr)	ZNF704 (A261T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197866	NM_001033723.3(ZNF704):c.1186A>G (p.Met396Val)	LOC126860428, ZNF704 (M396V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197865	NM_001033723.3(ZNF704):c.1033G>A (p.Val345Met)	ZNF704 (V519M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2591702	NM_001033723.3(ZNF704):c.827C>G (p.Thr276Arg)	ZNF704 (T276R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555931	NM_001033723.3(ZNF704):c.278G>C (p.Ser93Thr)	ZNF704 (S267T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547912	NM_001033723.3(ZNF704):c.1132C>T (p.Pro378Ser)	LOC126860428, ZNF704 (P378S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513997	NM_001033723.3(ZNF704):c.53T>A (p.Met18Lys)	ZNF704 (M18K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509762	NM_001033723.3(ZNF704):c.650T>A (p.Ile217Asn)	ZNF704 (I217N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508023	NM_001033723.3(ZNF704):c.82A>G (p.Met28Val)	ZNF704 (M202V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477028	NM_001033723.3(ZNF704):c.382A>G (p.Ser128Gly)	ZNF704 (S128G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391271	NM_001033723.3(ZNF704):c.973A>G (p.Asn325Asp)	ZNF704 (N499D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240347	NM_001033723.3(ZNF704):c.89A>G (p.Glu30Gly)	ZNF704 (E204G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206327	NM_001033723.3(ZNF704):c.316C>T (p.Arg106Trp)	ZNF704 (R106W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203837	NM_001033723.3(ZNF704):c.14T>G (p.Phe5Cys)	ZNF704 (F179C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1807951	GRCh37/hg19 8q21.12-21.13(chr8:79876744-83112711)x3	CHMP4C, FABP12 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527442	GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)	CRISPLD1, GDAP1 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 443624	GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1	CHMP4C, FABP12 +20 more	Copy number loss	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442424	GRCh37/hg19 8q21.13(chr8:80883771-81650440)x3	MRPS28, TPD52 +2 more	Copy number gain	See cases	GLikely benign
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 144237	GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1	CASC9, CRISPLD1 +115 more	Copy number loss	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 53