ClinVar for Gene (Select 414189) - 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 3094538	NM_001077665.3(AGAP6):c.970A>G (p.Lys324Glu)	AGAP6, TIMM23B-AGAP6 (K324E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094522	NM_001077665.3(AGAP6):c.829G>A (p.Gly277Arg)	AGAP6, TIMM23B-AGAP6 (G76R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094505	NM_001077665.3(AGAP6):c.677A>G (p.Gln226Arg)	AGAP6, TIMM23B-AGAP6 (Q25R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094494	NM_001077665.3(AGAP6):c.646T>A (p.Ser216Thr)	AGAP6, TIMM23B-AGAP6 (S15T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094490	NM_001077665.3(AGAP6):c.431T>C (p.Leu144Ser)	AGAP6, TIMM23B-AGAP6 (L144S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3094480	NM_001077665.3(AGAP6):c.37G>A (p.Val13Ile)	AGAP6, TIMM23B-AGAP6 (V13I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094471	NM_001077665.3(AGAP6):c.220G>C (p.Glu74Gln)	AGAP6, TIMM23B-AGAP6 (E74Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094468	NM_001077665.3(AGAP6):c.1990G>A (p.Ala664Thr)	AGAP6, TIMM23B-AGAP6 (A463T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094459	NM_001077665.3(AGAP6):c.1908T>A (p.Asn636Lys)	AGAP6, TIMM23B-AGAP6 (N435K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094449	NM_001077665.3(AGAP6):c.1870G>A (p.Gly624Ser)	AGAP6, TIMM23B-AGAP6 (G624S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094445	NM_001077665.3(AGAP6):c.1849G>A (p.Glu617Lys)	AGAP6, TIMM23B-AGAP6 (E416K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094431	NM_001077665.3(AGAP6):c.1714G>A (p.Glu572Lys)	AGAP6, TIMM23B-AGAP6 (E572K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094390	NM_001077665.3(AGAP6):c.1403A>C (p.Gln468Pro)	AGAP6, TIMM23B-AGAP6 (Q267P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3094381	NM_001077665.3(AGAP6):c.1298C>T (p.Ala433Val)	AGAP6, TIMM23B-AGAP6 (A232V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
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	AGAP6, ARHGAP22 +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
Select item 2640466	NM_001077665.3(AGAP6):c.147A>G (p.Val49=)	AGAP6, TIMM23B-AGAP6	Single nucleotide variant (non-coding transcript variant +1 more)	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)	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 2569953	NM_001077665.3(AGAP6):c.313G>A (p.Ala105Thr)	AGAP6, TIMM23B-AGAP6 (A105T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2561332	NM_001077665.3(AGAP6):c.1621A>G (p.Asn541Asp)	AGAP6, TIMM23B-AGAP6 (N541D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2554790	NM_001077665.3(AGAP6):c.1596G>A (p.Met532Ile)	AGAP6, TIMM23B-AGAP6 (M331I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2541814	NM_001077665.3(AGAP6):c.1991C>A (p.Ala664Asp)	AGAP6, TIMM23B-AGAP6 (A463D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2535511	NM_001077665.3(AGAP6):c.1418T>C (p.Met473Thr)	AGAP6, TIMM23B-AGAP6 (M272T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2526889	NM_001077665.3(AGAP6):c.1550G>A (p.Arg517Gln)	AGAP6, TIMM23B-AGAP6 (R517Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2525052	NM_001077665.3(AGAP6):c.1607T>G (p.Val536Gly)	AGAP6, TIMM23B-AGAP6 (V536G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2524217	NM_001077665.3(AGAP6):c.1003A>G (p.Thr335Ala)	AGAP6, TIMM23B-AGAP6 (T134A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2522045	NM_001077665.3(AGAP6):c.1702C>T (p.Arg568Cys)	AGAP6, TIMM23B-AGAP6 (R367C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2517442	NM_001077665.3(AGAP6):c.1520G>A (p.Arg507His)	AGAP6, TIMM23B-AGAP6 (R507H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2517368	NM_001077665.3(AGAP6):c.2045C>G (p.Pro682Arg)	AGAP6, TIMM23B-AGAP6 (P481R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2515198	NM_001077665.3(AGAP6):c.737G>A (p.Arg246Gln)	AGAP6, TIMM23B-AGAP6 (R45Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2487700	NM_001077665.3(AGAP6):c.103G>A (p.Gly35Arg)	AGAP6, TIMM23B-AGAP6 (G35R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2484198	NM_001077665.3(AGAP6):c.1157G>T (p.Ser386Ile)	AGAP6, TIMM23B-AGAP6 (S386I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2478563	NM_001077665.3(AGAP6):c.1318A>T (p.Ser440Cys)	AGAP6, TIMM23B-AGAP6 (S239C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2468202	NM_001077665.3(AGAP6):c.649T>C (p.Ser217Pro)	AGAP6, TIMM23B-AGAP6 (S217P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2465367	NM_001077665.3(AGAP6):c.838A>G (p.Arg280Gly)	AGAP6, TIMM23B-AGAP6 (R280G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2465223	NM_001077665.3(AGAP6):c.1771C>G (p.Leu591Val)	AGAP6, TIMM23B-AGAP6 (L591V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2462191	NM_001077665.3(AGAP6):c.1060C>T (p.Pro354Ser)	AGAP6, TIMM23B-AGAP6 (P153S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2457049	NM_001077665.3(AGAP6):c.1121C>A (p.Ser374Tyr)	AGAP6, TIMM23B-AGAP6 (S173Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2398697	NM_001077665.3(AGAP6):c.722C>T (p.Thr241Met)	AGAP6, TIMM23B-AGAP6 (T241M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2393763	NM_001077665.3(AGAP6):c.1693C>T (p.Arg565Trp)	AGAP6, TIMM23B-AGAP6 (R565W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2373137	NM_001077665.3(AGAP6):c.410G>A (p.Arg137His)	AGAP6, TIMM23B-AGAP6 (R137H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2367830	NM_001077665.3(AGAP6):c.1703G>A (p.Arg568His)	AGAP6, TIMM23B-AGAP6 (R367H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2359462	NM_001077665.3(AGAP6):c.1988A>G (p.Tyr663Cys)	AGAP6, TIMM23B-AGAP6 (Y462C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2357342	NM_001077665.3(AGAP6):c.1919C>A (p.Ala640Glu)	AGAP6, TIMM23B-AGAP6 (A439E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352329	NM_001077665.3(AGAP6):c.1523G>A (p.Ser508Asn)	AGAP6, TIMM23B-AGAP6 (S307N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352328	NM_001077665.3(AGAP6):c.1522A>G (p.Ser508Gly)	AGAP6, TIMM23B-AGAP6 (S307G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2349168	NM_001077665.3(AGAP6):c.1037C>T (p.Ser346Phe)	AGAP6, TIMM23B-AGAP6 (S145F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2347449	NM_001077665.3(AGAP6):c.875G>A (p.Arg292Gln)	AGAP6, TIMM23B-AGAP6 (R91Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2340204	NM_001077665.3(AGAP6):c.1667A>T (p.Glu556Val)	AGAP6, TIMM23B-AGAP6 (E355V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2340203	NM_001077665.3(AGAP6):c.1666G>A (p.Glu556Lys)	AGAP6, TIMM23B-AGAP6 (E556K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2333653	NM_001077665.3(AGAP6):c.998T>A (p.Leu333His)	AGAP6, TIMM23B-AGAP6 (L132H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2327330	NM_001077665.3(AGAP6):c.913G>C (p.Val305Leu)	AGAP6, TIMM23B-AGAP6 (V305L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2322080	NM_001077665.3(AGAP6):c.1280C>T (p.Thr427Met)	AGAP6, TIMM23B-AGAP6 (T427M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2293686	NM_001077665.3(AGAP6):c.898T>A (p.Trp300Arg)	AGAP6, TIMM23B-AGAP6 (W300R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2292856	NM_001077665.3(AGAP6):c.706A>G (p.Thr236Ala)	AGAP6, TIMM23B-AGAP6 (T236A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2277669	NM_001077665.3(AGAP6):c.1330G>C (p.Ala444Pro)	AGAP6, TIMM23B-AGAP6 (A243P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2274426	NM_001077665.3(AGAP6):c.1993C>T (p.Arg665Trp)	AGAP6, TIMM23B-AGAP6 (R464W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2267996	NM_001077665.3(AGAP6):c.1805C>T (p.Thr602Ile)	AGAP6, TIMM23B-AGAP6 (T602I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2267116	NM_001077665.3(AGAP6):c.789C>A (p.Asp263Glu)	AGAP6, TIMM23B-AGAP6 (D263E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2262891	NM_001077665.3(AGAP6):c.1909G>A (p.Val637Met)	AGAP6, TIMM23B-AGAP6 (V436M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2257507	NM_001077665.3(AGAP6):c.1948G>A (p.Val650Ile)	AGAP6, TIMM23B-AGAP6 (V449I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2228735	NM_001077665.3(AGAP6):c.1897C>T (p.Arg633Cys)	AGAP6, TIMM23B-AGAP6 (R432C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208543	NM_001077665.3(AGAP6):c.1783A>G (p.Thr595Ala)	AGAP6, TIMM23B-AGAP6 (T394A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 1707432	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1	ASAH2, AGAP6 +22 more	Copy number loss	See cases	GPathogenic
Select item 1340264	GRCh37/hg19 10q11.23(chr10:51735638-52476136)x1	AGAP6, ASAH2 +2 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 980918	GRCh37/hg19 10q11.23(chr10:51753154-52166339)x3	AGAP6, ASAH2 +2 more	Copy number gain	not provided	GLikely benign
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 815344	GRCh37/hg19 10q11.23(chr10:51659413-52476136)x1	WASHC2A, SGMS1 +2 more	Copy number loss	not provided	GUncertain significance
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 769369	NM_001077665.3(AGAP6):c.791_792del (p.Lys264fs)	AGAP6, TIMM23B-AGAP6 (K264fs)	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
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 684950	GRCh37/hg19 10q11.23(chr10:51744546-52428369)x1	SGMS1, WASHC2A +2 more	Copy number loss	not provided	GUncertain significance
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 563756	GRCh37/hg19 10q11.23(chr10:51757722-52431727)x3	AGAP6, SGMS1 +2 more	Copy number gain	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

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