55734[Gene ID] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	LOC125387319, LOC125387320 +1024 more	Copy number gain	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 148190	GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1	ADNP, ADNP-AS1 +63 more	Copy number loss	See cases	GPathogenic
Select item 151081	GRCh38/hg38 20q13.2(chr20:52024118-52183781)x3	LOC130066179, LOC130066180 +1 more	Copy number gain	See cases	GUncertain significance
Select item 2370827	NM_199427.3(ZFP64):c.1853C>T (p.Pro618Leu)	ZFP64 (P399L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548165	NM_199427.3(ZFP64):c.1771A>G (p.Arg591Gly)	ZFP64 (R372G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285045	NM_199427.3(ZFP64):c.1759G>A (p.Ala587Thr)	ZFP64 (A368T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556515	NM_199427.3(ZFP64):c.1083C>A (p.His361Gln)	ZFP64 (H361Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2272596	NM_199427.3(ZFP64):c.1057A>T (p.Thr353Ser)	ZFP64 (T144S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316023	NM_199427.3(ZFP64):c.850C>T (p.Pro284Ser)	ZFP64 (P65S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256406	NM_199427.3(ZFP64):c.842T>C (p.Ile281Thr)	ZFP64 (I62T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461829	NM_199427.3(ZFP64):c.827C>T (p.Pro276Leu)	ZFP64 (P57L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272931	NM_199427.3(ZFP64):c.816C>G (p.Ser272Arg)	ZFP64 (S272R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208766	NM_018197.3(ZFP64):c.1990A>G (p.Ile664Val)	ZFP64 (I610V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559858	NM_018197.3(ZFP64):c.1924A>G (p.Thr642Ala)	ZFP64 (T642A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305238	NM_018197.3(ZFP64):c.1864C>G (p.Gln622Glu)	ZFP64 (Q620E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623895	NM_018197.3(ZFP64):c.1855G>A (p.Ala619Thr)	ZFP64 (A617T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358301	NM_018197.3(ZFP64):c.1678G>A (p.Glu560Lys)	ZFP64 (E558K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473274	NM_018197.3(ZFP64):c.1616G>A (p.Arg539Gln)	ZFP64 (R485Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458765	NM_018197.3(ZFP64):c.1596G>T (p.Glu532Asp)	ZFP64 (E478D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326726	NM_018197.3(ZFP64):c.1582G>A (p.Ala528Thr)	ZFP64 (A474T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247407	NM_018197.3(ZFP64):c.1508A>C (p.His503Pro)	ZFP64 (H501P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511284	NM_018197.3(ZFP64):c.1213A>G (p.Arg405Gly)	ZFP64 (R351G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478394	NM_018197.3(ZFP64):c.1118G>T (p.Cys373Phe)	ZFP64 (C373F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207144	NM_018197.3(ZFP64):c.1006G>T (p.Val336Leu)	ZFP64 (V282L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481670	NM_018197.3(ZFP64):c.787C>G (p.Leu263Val)	ZFP64 (L209V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340753	NM_018197.3(ZFP64):c.686G>A (p.Arg229Gln)	ZFP64 (R175Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254306	NM_018197.3(ZFP64):c.677C>T (p.Ser226Leu)	ZFP64 (S224L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275229	NM_018197.3(ZFP64):c.598G>A (p.Val200Met)	ZFP64 (V198M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593122	NM_018197.3(ZFP64):c.520C>A (p.Pro174Thr)	ZFP64 (P172T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344791	NM_018197.3(ZFP64):c.516C>A (p.Asp172Glu)	ZFP64 (D170E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519970	NM_018197.3(ZFP64):c.62C>T (p.Thr21Met)	ZFP64 (T19M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272712	NM_018197.3(ZFP64):c.49C>G (p.Pro17Ala)	ZFP64 (P17A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534781	NM_018197.3(ZFP64):c.31G>C (p.Ala11Pro)	ZFP64 (A11P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2337765	NM_018197.3(ZFP64):c.18G>C (p.Glu6Asp)	ZFP64 (E6D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327709	NM_018197.3(ZFP64):c.5A>G (p.Asn2Ser)	ZFP64 (N2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062401	GRCh37/hg19 20q13.13-13.2(chr20:49718564-51223195)x3	ATP9A, NFATC2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1808921	GRCh37/hg19 20q13.2(chr20:50567700-50863344)x3	ZFP64	Copy number gain	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441649	GRCh37/hg19 20q13.2(chr20:50327635-52375128)x3	ATP9A, SALL4 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 43