ClinVar for Gene (Select 118738) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 3196124	NM_153034.4(ZNF488):c.935G>A (p.Arg312Gln)	ZNF488 (R312Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196123	NM_153034.4(ZNF488):c.86C>T (p.Ser29Leu)	ZNF488 (S29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196121	NM_153034.4(ZNF488):c.716T>A (p.Leu239Gln)	ZNF488 (L239Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196120	NM_153034.4(ZNF488):c.583C>T (p.Leu195Phe)	ZNF488 (L195F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196119	NM_153034.4(ZNF488):c.500C>T (p.Thr167Ile)	ZNF488 (T167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196118	NM_153034.4(ZNF488):c.364C>T (p.His122Tyr)	ZNF488 (H122Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196117	NM_153034.4(ZNF488):c.324G>A (p.Met108Ile)	ZNF488 (M108I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2684603	GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2590364	NM_153034.4(ZNF488):c.128G>A (p.Arg43Gln)	ZNF488 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2560315	NM_153034.4(ZNF488):c.370G>T (p.Asp124Tyr)	ZNF488 (D124Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535372	NM_153034.4(ZNF488):c.757T>G (p.Ser253Ala)	ZNF488 (S253A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 2476967	NM_153034.4(ZNF488):c.194C>T (p.Ala65Val)	ZNF488 (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476249	NM_153034.4(ZNF488):c.694A>G (p.Thr232Ala)	ZNF488 (T232A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472682	NM_153034.4(ZNF488):c.631A>G (p.Lys211Glu)	ZNF488 (K211E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472499	NM_153034.4(ZNF488):c.133T>C (p.Cys45Arg)	ZNF488 (C45R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457563	NM_153034.4(ZNF488):c.164G>A (p.Arg55His)	ZNF488 (R55H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404872	NM_153034.4(ZNF488):c.331C>T (p.Arg111Trp)	ZNF488 (R111W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393460	NM_153034.4(ZNF488):c.793A>G (p.Thr265Ala)	ZNF488 (T265A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353316	NM_153034.4(ZNF488):c.809G>T (p.Gly270Val)	ZNF488 (G270V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343400	NM_153034.4(ZNF488):c.506G>A (p.Arg169Gln)	ZNF488 (R169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308216	NM_153034.4(ZNF488):c.979C>T (p.Arg327Trp)	ZNF488 (R327W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300302	NM_153034.4(ZNF488):c.331C>G (p.Arg111Gly)	ZNF488 (R111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293751	NM_153034.4(ZNF488):c.35C>T (p.Pro12Leu)	ZNF488 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211792	NM_153034.4(ZNF488):c.860C>T (p.Thr287Met)	ZNF488 (T287M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205082	NM_153034.4(ZNF488):c.263C>T (p.Pro88Leu)	ZNF488 (P88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879150	GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3	AGAP10, AGAP6 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808699	GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808685	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808107	GRCh37/hg19 10q11.22(chr10:47062985-48769625)x3	AGAP10, AGAP9 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807813	GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1	PGBD3, PTPN20 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807739	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3	PGBD3, PTPN20 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1711870	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 1703569	GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164)	AGAP10, AGAP9 +32 more	Copy number loss	Telangiectasia, hereditary hemorrhagic, type 5	GPathogenic
Select item 1340361	GRCh37/hg19 10q11.22(chr10:48301643-48769625)x1	GDF10, GDF2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1180522	GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3	FAM170B, FAM25C +25 more	Copy number gain	not provided	GPathogenic
Select item 1072695	NC_000010.10:g.(?_48370533)_(48438710_?)del	ZNF488, GDF10 +2 more	Deletion	not provided	GPathogenic
Select item 992645	GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 980914	GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1	AGAP10, AGAP9 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 977791	GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)	SLC18A3, SYT15 +33 more	Copy number loss	10q11.22q11.23 microdeletion including CHAT and SLC18A3	GPathogenic
Select item 973065	GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1	AGAP10, AGAP4 +33 more	Copy number loss	not provided	Gnot provided
Select item 833109	NC_000010.10:g.(?_48370533)_(48429566_?)dup	GDF10, GDF2 +2 more	Duplication	not provided	GUncertain significance
Select item 832579	NC_000010.10:g.(?_48370533)_(48438710_?)dup	GDF10, GDF2 +2 more	Duplication	not provided	GUncertain significance
Select item 832124	NC_000010.10:g.(?_48370533)_(48390877_?)del	RBP3, ZNF488	Deletion	not provided	GPathogenic
Select item 689042	GRCh37/hg19 10q11.22-11.23(chr10:48106368-51250418)x1	AGAP9, ANXA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 688266	GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3	AGAP10, AGAP4 +37 more	Copy number gain	not provided	GUncertain significance
Select item 687599	GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3	AGAP6, ANXA8 +27 more	Copy number gain	not provided	GUncertain significance
Select item 687117	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3	AGAP10, AGAP6 +34 more	Copy number gain	not provided	GUncertain significance
Select item 686422	GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 686364	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GPathogenic
Select item 685237	GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3	AGAP10, AGAP9 +29 more	Copy number gain	not provided	GPathogenic
Select item 625649	GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471)	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GPathogenic
Select item 625591	GRCh37/hg19 10q11.22-11.23(chr10:48102606-50641752)	AGAP9, ANXA8 +17 more	Copy number loss	not provided	GPathogenic
Select item 563792	GRCh37/hg19 10q11.22-11.23(chr10:46225364-51874356)x1	NPY4R, OGDHL +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 563791	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51861565)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 563790	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GPathogenic
Select item 563789	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51874356)x1	NCOA4, NPY4R +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 563788	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51822386)x3	AGAP10, AGAP6 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 563787	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GPathogenic
Select item 563774	GRCh37/hg19 10q11.22(chr10:47059392-48736754)x1	FAM25G, RBP3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 443095	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3	AGAP10, AGAP6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 442310	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903756)x1	AGAP10, AGAP6 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441949	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x1	AGAP10, AGAP6 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441891	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51822386)x1	AGAP10, AGAP6 +33 more	Copy number loss	See cases	GLikely pathogenic
Select item 441790	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51891907)x3	AGAP10, AGAP6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 394170	GRCh37/hg19 10q11.22-11.23(chr10:46224446-51594991)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic
Select item 393739	GRCh37/hg19 10q11.22(chr10:46321377-49376720)x3	AGAP10, AGAP4 +14 more	Copy number gain	See cases	GLikely benign
Select item 253661	GRCh37/hg19 10q11.22-11.23(chr10:46491169-51081560)x1	AGAP10, AGAP9 +29 more	Copy number loss	See cases	GPathogenic
Select item 253563	GRCh37/hg19 10q11.22-11.23(chr10:46242057-51595050)x3	AGAP10, AGAP4 +35 more	Copy number gain	See cases	GPathogenic
Select item 161043	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 161022	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 160988	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154978	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP10, AGAP9 +30 more	Copy number gain	See cases	GBenign
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 154864	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 154844	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1	AGAP10, AGAP9 +34 more	Copy number loss	See cases	GBenign
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 154430	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP9, ANXA8 +29 more	Copy number gain	See cases	GBenign
Select item 154420	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x1	AGAP10, AGAP9 +26 more	Copy number loss	See cases	GBenign
Select item 154419	GRCh38/hg38 10q11.22(chr10:46490281-47923579)x3	AGAP10, AGAP9 +26 more	Copy number gain	See cases	GBenign
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 153030	GRCh38/hg38 10q11.22(chr10:46375049-47987500)x3	AGAP10, AGAP9 +30 more	Copy number gain	See cases	GBenign
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	AGAP4, AGAP9 +1221 more	Copy number gain	See cases	GBenign
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 150698	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP9, ANTXRL +33 more	Copy number gain	See cases	GBenign
Select item 150663	GRCh38/hg38 10q11.22(chr10:46157935-47923579)x3	AGAP10, AGAP9 +34 more	Copy number gain	See cases	GBenign
Select item 150650	GRCh38/hg38 10q11.22(chr10:46146977-47987500)x3	AGAP10, AGAP9 +35 more	Copy number gain	See cases	GBenign

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