8605[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
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 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
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 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
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 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
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
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 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148406	GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 57577	GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 2531537	NM_003631.5(PARG):c.2914C>A (p.Gln972Lys)	PARG (Q972K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510283	NM_003631.5(PARG):c.2903A>G (p.Asp968Gly)	PARG (D968G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208652	NM_003631.5(PARG):c.2846A>T (p.Asp949Val)	PARG (D841V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208651	NM_003631.5(PARG):c.2801G>A (p.Arg934Gln)	PARG (R520Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354976	NM_003631.5(PARG):c.2731A>G (p.Ile911Val)	PARG (I803V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373478	NM_003631.5(PARG):c.2659A>T (p.Ile887Leu)	PARG (I473L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295823	NM_003631.5(PARG):c.2561G>A (p.Arg854His)	PARG (R772H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518578	NM_003631.5(PARG):c.2560C>T (p.Arg854Cys)	PARG (R772C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208650	NM_003631.5(PARG):c.2472C>G (p.Ile824Met)	PARG (I716M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208649	NM_003631.5(PARG):c.2446C>T (p.Arg816Trp)	PARG (R816W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349399	NM_003631.5(PARG):c.2398C>T (p.Arg800Cys)	PARG (R800C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304336	NM_003631.5(PARG):c.2377A>G (p.Thr793Ala)	PARG (T685A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208648	NM_003631.5(PARG):c.2222G>A (p.Arg741His)	PARG (R327H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349970	NM_003631.5(PARG):c.2167G>A (p.Glu723Lys)	PARG (E641K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348952	NM_003631.5(PARG):c.2150G>A (p.Arg717Gln)	PARG (R717Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596481	NM_003631.5(PARG):c.1991T>C (p.Leu664Ser)	PARG (L582S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590390	NM_003631.5(PARG):c.1861C>T (p.His621Tyr)	PARG (H207Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208647	NM_003631.5(PARG):c.1834A>G (p.Ile612Val)	PARG (I530V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245814	NM_003631.5(PARG):c.1712C>A (p.Thr571Lys)	PARG (T463K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404281	NM_003631.5(PARG):c.1641T>A (p.Phe547Leu)	PARG (F133L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394736	NM_003631.5(PARG):c.1635C>A (p.Asn545Lys)	PARG (N437K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292093	NM_003631.5(PARG):c.1612C>G (p.Leu538Val)	PARG (L124V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208646	NM_003631.5(PARG):c.1601G>A (p.Ser534Asn)	PARG (S120N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589052	NM_003631.5(PARG):c.1513T>A (p.Leu505Met)	PARG (L397M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458763	NM_003631.5(PARG):c.1457T>G (p.Val486Gly)	PARG (V404G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256078	NM_003631.5(PARG):c.1124G>A (p.Ser375Asn)	PARG (S267N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376555	NM_003631.5(PARG):c.1046C>G (p.Ala349Gly)	PARG (A241G +2 more)	Single nucleotide variant (missense variant +2 more)	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 2685374	GRCh37/hg19 10q11.23(chr10:50795114-51134640)x1	C10orf53, CHAT +3 more	Copy number loss	not provided	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 2640464	NM_003631.2(PARG):c.1455+115464A>G	PARG	Single nucleotide variant	not provided	GLikely benign
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)	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 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 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 1409018	NC_000010.10:g.(?_50666861)_(51549496_?)dup	C10orf53, CHAT +5 more	Duplication	not provided	GUncertain significance
Select item 1340263	GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1	ARHGAP22, C10orf53 +15 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 992645	GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 988905	GRCh37/hg19 10q11.22-11.23(chr10:49391938-51053159)x3	C10orf71, CHAT +15 more	Copy number gain	not provided	GUncertain significance
Select item 980919	GRCh37/hg19 10q11.23(chr10:51367328-51641805)x3	MSMB, NCOA4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 980916	GRCh37/hg19 10q11.22-11.23(chr10:48750425-51386904)x1	ARHGAP22, C10orf53 +17 more	Copy number loss	not provided	GUncertain significance
Select item 980915	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51134640)x3	ARHGAP22, C10orf53 +15 more	Copy number gain	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 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 815341	GRCh37/hg19 10q11.22-11.23(chr10:49389565-51122608)x1	VSTM4, CHAT +15 more	Copy number loss	not provided	GUncertain significance
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 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 684951	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51250418)x1	ARHGAP22, C10orf53 +15 more	Copy number loss	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 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 563777	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51113033)x3	PARG, OGDHL +15 more	Copy number gain	not provided	GUncertain significance
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

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