ClinVar for Gene (Select 8031) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298848	NM_001145263.2(NCOA4):c.1045A>C (p.Asn349His)	NCOA4 (N349H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3183932	NM_001145263.2(NCOA4):c.833C>T (p.Thr278Ile)	NCOA4 (T278I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183911	NM_001145263.2(NCOA4):c.168A>G (p.Ile56Met)	NCOA4 (I72M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183901	NM_001145263.2(NCOA4):c.1823A>G (p.Tyr608Cys)	NCOA4 (Y608C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183897	NM_001145263.2(NCOA4):c.1733A>G (p.His578Arg)	NCOA4 (H578R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183892	NM_001145263.2(NCOA4):c.1537G>A (p.Gly513Ser)	NCOA4 (G513S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183889	NM_001145263.2(NCOA4):c.1525A>G (p.Lys509Glu)	NCOA4 (K509E +1 more)	Single nucleotide variant (missense variant)	not specified	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 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	C10orf71, CHAT +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
Select item 2640465	NM_001145263.2(NCOA4):c.1260G>A (p.Glu420=)	NCOA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2607630	NM_001145263.2(NCOA4):c.751G>A (p.Gly251Arg)	NCOA4 (G251R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606037	NM_001145263.2(NCOA4):c.820A>G (p.Ser274Gly)	NCOA4 (S274G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600841	NM_001145263.2(NCOA4):c.1046A>G (p.Asn349Ser)	NCOA4 (N349S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600798	NM_001145263.2(NCOA4):c.632C>T (p.Ala211Val)	NCOA4 (A227V +1 more)	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 2576136	NM_001145263.2(NCOA4):c.39T>G (p.Asn13Lys)	NCOA4 (N13K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2549314	NM_001145263.2(NCOA4):c.1839+232G>A	NCOA4 (V641I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541916	NM_001145263.2(NCOA4):c.1826G>A (p.Arg609Gln)	NCOA4 (R609Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529431	NM_001145263.2(NCOA4):c.968A>C (p.Glu323Ala)	NCOA4 (E323A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520830	NM_001145263.2(NCOA4):c.1310A>C (p.Lys437Thr)	NCOA4 (K453T +1 more)	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 2493177	NM_001145263.2(NCOA4):c.1069G>A (p.Gly357Ser)	NCOA4 (G357S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275085	NM_001145263.2(NCOA4):c.281C>T (p.Ser94Leu)	NCOA4 (S110L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262029	NM_001145263.2(NCOA4):c.943C>T (p.Arg315Trp)	NCOA4 (R315W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241854	NM_001145263.2(NCOA4):c.1220A>G (p.Asn407Ser)	NCOA4 (N423S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240597	NM_001145263.2(NCOA4):c.583G>C (p.Gly195Arg)	NCOA4 (G195R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215340	NM_001145263.2(NCOA4):c.1231A>G (p.Thr411Ala)	NCOA4 (T427A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213573	NM_001145263.2(NCOA4):c.1283A>G (p.Tyr428Cys)	NCOA4 (Y444C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 1808892	GRCh37/hg19 10q11.23(chr10:51389990-51606628)x3	MSMB, NCOA4 +1 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 1808108	GRCh37/hg19 10q11.23(chr10:51492985-51700837)x3	MSMB, NCOA4 +1 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 1707432	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1	ASAH2, AGAP6 +22 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 1340113	GRCh37/hg19 10q11.23(chr10:51479639-51655756)x1	MSMB, NCOA4 +1 more	Copy number loss	not provided	GLikely benign
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 992645	GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 980919	GRCh37/hg19 10q11.23(chr10:51367328-51641805)x3	MSMB, NCOA4 +2 more	Copy number gain	not provided	GUncertain significance
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 974738	NC_000010.10:g.49033586_52417694del	CHAT, DRGX +23 more	Deletion	Megacolon	GLikely pathogenic
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 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 790084	NM_001145263.2(NCOA4):c.1447G>A (p.Ala483Thr)	NCOA4 (A483T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789307	NM_001145263.2(NCOA4):c.686C>T (p.Thr229Ile)	NCOA4 (T245I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 715258	NM_001145263.2(NCOA4):c.1524C>G (p.Pro508=)	NCOA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715257	NM_001145263.2(NCOA4):c.1484C>T (p.Ser495Leu)	NCOA4 (S495L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714454	NM_001145263.2(NCOA4):c.1322G>A (p.Gly441Glu)	NCOA4 (G441E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714453	NM_001145263.2(NCOA4):c.743A>G (p.Asn248Ser)	NCOA4 (N248S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689065	GRCh37/hg19 10q11.23(chr10:51461797-51630213)x1	MSMB, NCOA4 +1 more	Copy number loss	not provided	GUncertain significance
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 687311	GRCh37/hg19 10q11.23(chr10:51492958-51627446)x1	MSMB, NCOA4 +1 more	Copy number loss	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 686014	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3	AGAP6, ARHGAP22 +22 more	Copy number gain	not provided	GUncertain significance
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 684531	NM_001145263.2(NCOA4):c.1340A>G (p.Lys447Arg)	NCOA4 (K447R +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 625649	GRCh37/hg19 10q11.22-11.23(chr10:46544810-51743471)	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GPathogenic
Select item 624468	GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1	MSMB, MTRNR2L5 +33 more	Copy number loss	not provided	GLikely pathogenic
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 563736	GRCh37/hg19 10q11.23(chr10:51367328-51717529)x1	PARG, MSMB +2 more	Copy number loss	not provided	GUncertain significance
Select item 563727	GRCh37/hg19 10q11.23(chr10:51367328-51627470)x1	NCOA4, PARG +2 more	Copy number loss	not provided	GUncertain significance
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 443095	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51848637)x3	AGAP10, AGAP6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 442466	GRCh37/hg19 10q11.23(chr10:51133741-51627470)x1	MSMB, NCOA4 +2 more	Copy number loss	See cases	GLikely benign
Select item 442337	GRCh37/hg19 10q11.22-11.23(chr10:49381707-52467180)x3	ASAH2, C10orf53 +22 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)	INA, INPP5A +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 394957	GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3	AGAP6, ARHGAP22 +22 more	Copy number gain	See cases	GLikely pathogenic
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	A1CF, ABCC2 +722 more	Copy number gain	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 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
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 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +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 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic

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