ZNF648[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 2242967	NM_001009992.1(ZNF648):c.1663G>A (p.Gly555Ser)	ZNF648 (G555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601000	NM_001009992.1(ZNF648):c.1627A>G (p.Arg543Gly)	ZNF648 (R543G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259054	NM_001009992.1(ZNF648):c.1576C>A (p.His526Asn)	ZNF648 (H526N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259052	NM_001009992.1(ZNF648):c.1531A>G (p.Arg511Gly)	ZNF648 (R511G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197466	NM_001009992.1(ZNF648):c.1444G>A (p.Gly482Ser)	ZNF648 (G482S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549190	NM_001009992.1(ZNF648):c.1436C>G (p.Thr479Arg)	ZNF648 (T479R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197465	NM_001009992.1(ZNF648):c.1360G>T (p.Gly454Cys)	ZNF648 (G454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197464	NM_001009992.1(ZNF648):c.1309G>A (p.Glu437Lys)	ZNF648 (E437K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543984	NM_001009992.1(ZNF648):c.1307C>A (p.Ser436Tyr)	ZNF648 (S436Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536478	NM_001009992.1(ZNF648):c.1307C>T (p.Ser436Phe)	ZNF648 (S436F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551157	NM_001009992.1(ZNF648):c.1301A>G (p.Asn434Ser)	ZNF648 (N434S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197463	NM_001009992.1(ZNF648):c.1233G>C (p.Gln411His)	ZNF648 (Q411H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411824	NM_001009992.1(ZNF648):c.1042T>G (p.Ser348Ala)	ZNF648 (S348A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318655	NM_001009992.1(ZNF648):c.967C>T (p.Arg323Trp)	ZNF648 (R323W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259051	NM_001009992.1(ZNF648):c.937G>T (p.Asp313Tyr)	ZNF648 (D313Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197472	NM_001009992.1(ZNF648):c.898C>G (p.Leu300Val)	ZNF648 (L300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259053	NM_001009992.1(ZNF648):c.874G>C (p.Gly292Arg)	ZNF648 (G292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303091	NM_001009992.1(ZNF648):c.860C>T (p.Ala287Val)	ZNF648 (A287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259050	NM_001009992.1(ZNF648):c.824C>G (p.Ala275Gly)	ZNF648 (A275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197471	NM_001009992.1(ZNF648):c.806C>T (p.Ala269Val)	ZNF648 (A269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252470	NM_001009992.1(ZNF648):c.772G>A (p.Ala258Thr)	ZNF648 (A258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562540	NM_001009992.1(ZNF648):c.749A>T (p.Tyr250Phe)	ZNF648 (Y250F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197470	NM_001009992.1(ZNF648):c.727G>A (p.Gly243Arg)	ZNF648 (G243R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286254	NM_001009992.1(ZNF648):c.710C>A (p.Ala237Glu)	ZNF648 (A237E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598851	NM_001009992.1(ZNF648):c.688A>G (p.Ser230Gly)	ZNF648 (S230G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2257804	NM_001009992.1(ZNF648):c.682C>T (p.Arg228Trp)	ZNF648 (R228W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520554	NM_001009992.1(ZNF648):c.680C>G (p.Ala227Gly)	ZNF648 (A227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245481	NM_001009992.1(ZNF648):c.662C>T (p.Ala221Val)	ZNF648 (A221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197469	NM_001009992.1(ZNF648):c.656T>C (p.Leu219Pro)	ZNF648 (L219P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259049	NM_001009992.1(ZNF648):c.640G>T (p.Ala214Ser)	ZNF648 (A214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347534	NM_001009992.1(ZNF648):c.632A>C (p.Gln211Pro)	ZNF648 (Q211P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296362	NM_001009992.1(ZNF648):c.545C>T (p.Thr182Met)	ZNF648 (T182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614707	NM_001009992.1(ZNF648):c.488T>C (p.Val163Ala)	ZNF648 (V163A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342290	NM_001009992.1(ZNF648):c.363A>T (p.Arg121Ser)	ZNF648 (R121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600965	NM_001009992.1(ZNF648):c.309G>C (p.Trp103Cys)	ZNF648 (W103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197467	NM_001009992.1(ZNF648):c.232G>A (p.Glu78Lys)	ZNF648 (E78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599491	NM_001009992.1(ZNF648):c.181G>A (p.Val61Ile)	ZNF648 (V61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287695	NM_001009992.1(ZNF648):c.160T>A (p.Cys54Ser)	ZNF648 (C54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210034	NM_001009992.1(ZNF648):c.118G>T (p.Gly40Cys)	ZNF648 (G40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247901	NC_000001.10:g.(?_179520308)_(183559464_?)del	ACBD6, AXDND1 +29 more	Deletion	not provided	GPathogenic
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1510700	NC_000001.10:g.(?_179520308)_(183559464_?)dup	ACBD6, AXDND1 +29 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2	GUncertain significance
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814146	GRCh37/hg19 1q25.3(chr1:180586428-183178629)x3	RGS8, RGSL1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 624465	GRCh37/hg19 1q25.3(chr1:181863430-183148056)x1	DHX9, GLUL +9 more	Copy number loss	not provided	GUncertain significance
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
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 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 69