RGPD6[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 148286	GRCh38/hg38 2q13(chr2:108719125-110611314)x3	CCDC138, EDAR +61 more	Copy number gain	See cases	GUncertain significance
Select item 148909	GRCh38/hg38 2q13(chr2:109975055-110576905)x3	LIMS4, LINC01106 +13 more	Copy number gain	See cases	GLikely benign
Select item 147196	GRCh38/hg38 2q13(chr2:110025681-110576905)x1	LIMS4, LINC01106 +12 more	Copy number loss	See cases	GBenign
Select item 149321	GRCh38/hg38 2q13(chr2:110049995-110576905)x3	LIMS4, LINC01106 +12 more	Copy number gain	See cases	GLikely benign
Select item 59744	GRCh38/hg38 2q13(chr2:110084138-110611314)x1	LIMS4, LINC01106 +12 more	Copy number loss	See cases	GBenign
Select item 161023	GRCh38/hg38 2q13(chr2:110104900-110611314)x3	LIMS4, LINC01106 +11 more	Copy number gain	See cases	GBenign
Select item 146178	GRCh38/hg38 2q13(chr2:110104900-110611314)x1	LIMS4, LINC01106 +11 more	Copy number loss	See cases	GBenign
Select item 3153729	NM_001123363.4(RGPD6):c.71A>C (p.Gln24Pro)	RGPD6 (Q24P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527965	NM_001123363.4(RGPD6):c.19G>T (p.Asp7Tyr)	RGPD6 (D7Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 152806	GRCh38/hg38 2q13-14.1(chr2:110577566-112331529)x3	ACOXL, ACOXL-AS1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062597	GRCh37/hg19 2q13(chr2:110504318-111365996)x1	LIMS3, LIMS4 +4 more	Copy number loss	not specified	GUncertain significance
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2685861	GRCh37/hg19 2q12.3-13(chr2:108534031-111365996)x3	CCDC138, EDAR +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2652124	GRCh37/hg19 2q13(chr2:110873265-113090065)x1	ACOXL, ANAPC1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2580318	GRCh37/hg19 2q13(chr2:111335152-113127204)x1	ACOXL, ANAPC1 +9 more	Copy number loss	2q13 microdeletion syndrome	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1707615	GRCh37/hg19 2q13(chr2:110498141-111365996)x3	LIMS3, LIMS4 +4 more	Copy number gain	See cases	GUncertain significance
Select item 1706502	GRCh37/hg19 2q13(chr2:110504318-111365996)x1	LIMS3, LIMS4 +4 more	Copy number loss	Tetralogy of Fallot +1 more	GConflicting classifications of pathogenicity
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 995854	GRCh37/hg19 2q13(chr2:110862474-110983457)x1	BUB1, LIMS4 +3 more	Copy number loss	Psychotic disorder	GUncertain significance
Select item 980469	GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1	ANAPC1, SULT1C4 +28 more	Copy number loss	not provided	GPathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	ACOXL, ACTR1B +122 more	Copy number gain	not provided	GPathogenic
Select item 562663	GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1	NPHP1, CCDC138 +18 more	Copy number loss	not provided	GLikely pathogenic
Select item 562655	GRCh37/hg19 2q13(chr2:110980294-113137529)x1	ACOXL, ANAPC1 +10 more	Copy number loss	not provided	GPathogenic
Select item 562628	GRCh37/hg19 2q13(chr2:110504318-111622976)x3	LIMS4, NPHP1 +6 more	Copy number gain	not provided	GLikely benign
Select item 560135	Single allele	ACOXL, BCL2L11 +20 more	Duplication	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 503597	GRCh37/hg19 2q13(chr2:110852875-111398472)x1	LIMS4, MALL +3 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic
Select item 226183	GRCh37/hg19 2q13(chr2:111186302-113273657)	TTL, BCL2L11 +11 more	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic

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Items: 41