65124[Gene ID] - ClinVar

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Items: 76

	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 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 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 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 144754	GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1	CCDC138, EDAR +67 more	Copy number loss	See cases	GUncertain significance
Select item 153852	GRCh38/hg38 2q12.3-13(chr2:108526866-109746741)x1	CCDC138, EDAR +56 more	Copy number loss	See cases	GUncertain significance
Select item 57544	GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1	CCDC138, EDAR +51 more	Copy number loss	See cases	GPathogenic
Select item 146441	GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1	CCDC138, EDAR +50 more	Copy number loss	See cases	GUncertain significance
Select item 153634	GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1	CCDC138, EDAR +44 more	Copy number loss	See cases	GUncertain significance
Select item 147380	GRCh38/hg38 2q12.3-13(chr2:108681906-109700179)x3	CCDC138, EDAR +42 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 3024348	GRCh38/hg38 2q13(chr2:109301667-110460985)	LOC112695115, LOC126806305 +33 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2556738	NM_023016.4(SOWAHC):c.41G>T (p.Gly14Val)	RANBP2, SOWAHC (G14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596275	NM_023016.4(SOWAHC):c.85G>T (p.Ala29Ser)	RANBP2, SOWAHC (A29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343966	NM_023016.4(SOWAHC):c.93C>A (p.His31Gln)	RANBP2, SOWAHC (H31Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260374	NM_023016.4(SOWAHC):c.97G>C (p.Glu33Gln)	RANBP2, SOWAHC (E33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167674	NM_023016.4(SOWAHC):c.107A>G (p.Gln36Arg)	RANBP2, SOWAHC (Q36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226432	NM_023016.4(SOWAHC):c.127G>A (p.Gly43Ser)	RANBP2, SOWAHC (G43S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596982	NM_023016.4(SOWAHC):c.137C>G (p.Pro46Arg)	RANBP2, SOWAHC (P46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167676	NM_023016.4(SOWAHC):c.140A>G (p.Glu47Gly)	RANBP2, SOWAHC (E47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595547	NM_023016.4(SOWAHC):c.152G>A (p.Arg51His)	RANBP2, SOWAHC (R51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339910	NM_023016.4(SOWAHC):c.154G>A (p.Ala52Thr)	RANBP2, SOWAHC (A52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519214	NM_023016.4(SOWAHC):c.182A>G (p.Asn61Ser)	RANBP2, SOWAHC (N61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229217	NM_023016.4(SOWAHC):c.320A>C (p.Asp107Ala)	RANBP2, SOWAHC (D107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459306	NM_023016.4(SOWAHC):c.359A>G (p.Asp120Gly)	RANBP2, SOWAHC (D120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387498	NM_023016.4(SOWAHC):c.371C>G (p.Pro124Arg)	RANBP2, SOWAHC (P124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494465	NM_023016.4(SOWAHC):c.418C>T (p.Pro140Ser)	RANBP2, SOWAHC (P140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494330	NM_023016.4(SOWAHC):c.535C>T (p.Pro179Ser)	RANBP2, SOWAHC (P179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289951	NM_023016.4(SOWAHC):c.547T>C (p.Cys183Arg)	RANBP2, SOWAHC (C183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404210	NM_023016.4(SOWAHC):c.671G>C (p.Gly224Ala)	RANBP2, SOWAHC (G224A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239127	NM_023016.4(SOWAHC):c.680C>G (p.Pro227Arg)	RANBP2, SOWAHC (P227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209887	NM_023016.4(SOWAHC):c.689C>T (p.Ser230Phe)	RANBP2, SOWAHC (S230F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569913	NM_023016.4(SOWAHC):c.784G>A (p.Val262Met)	RANBP2, SOWAHC (V262M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593320	NM_023016.4(SOWAHC):c.845G>A (p.Ser282Asn)	RANBP2, SOWAHC (S282N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167679	NM_023016.4(SOWAHC):c.866G>A (p.Cys289Tyr)	RANBP2, SOWAHC (C289Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323225	NM_023016.4(SOWAHC):c.971T>G (p.Phe324Cys)	RANBP2, SOWAHC (F324C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310382	NM_023016.4(SOWAHC):c.1000A>G (p.Ile334Val)	RANBP2, SOWAHC (I334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469254	NM_023016.4(SOWAHC):c.1006G>A (p.Ala336Thr)	RANBP2, SOWAHC (A336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275142	NM_023016.4(SOWAHC):c.1081G>C (p.Val361Leu)	RANBP2, SOWAHC (V361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167675	NM_023016.4(SOWAHC):c.1212C>A (p.Ser404Arg)	RANBP2, SOWAHC (S404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459267	NM_023016.4(SOWAHC):c.1313A>G (p.His438Arg)	RANBP2, SOWAHC (H438R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293274	NM_023016.4(SOWAHC):c.1376A>C (p.Lys459Thr)	RANBP2, SOWAHC (K459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383415	NM_023016.4(SOWAHC):c.1457C>A (p.Pro486His)	RANBP2, SOWAHC (P486H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530902	NM_023016.4(SOWAHC):c.1528A>G (p.Lys510Glu)	RANBP2, SOWAHC (K510E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167678	NM_023016.4(SOWAHC):c.1553G>C (p.Arg518Thr)	RANBP2, SOWAHC (R518T)	Single nucleotide variant (missense variant)	not specified	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 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062469	GRCh37/hg19 2q12.3-13(chr2:108526025-110504319)x3	CCDC138, EDAR +9 more	Copy number gain	not specified	GUncertain significance
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 2684653	GRCh37/hg19 2q12.3-13(chr2:109128791-110504318)x1	CCDC138, EDAR +4 more	Copy number loss	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 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1705945	GRCh37/hg19 2q12.3-13(chr2:109157562-110497991)x1	CCDC138, EDAR +4 more	Copy number loss	Autism	GPathogenic
Select item 1704648	GRCh37/hg19 2q12.3-13(chr2:108446955-110504318)x3	CCDC138, EDAR +10 more	Copy number gain	MISSED ABORTION	GUncertain significance
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 1526886	GRCh37/hg19 2q12.3-13(chr2:108446955-110504318)	CCDC138, EDAR +10 more	Copy number loss	not specified	GPathogenic
Select item 1340865	GRCh37/hg19 2q12.3-13(chr2:109143322-110485026)x3	CCDC138, EDAR +4 more	Copy number gain	not provided	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 814292	GRCh37/hg19 2q12.3-13(chr2:108499809-110504318)x1	SULT1C4, GCC2 +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 625546	GRCh37/hg19 2q12.3-13(chr2:109301074-110482930)	CCDC138, EDAR +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 624512	GRCh37/hg19 2q12.3-13(chr2:109300532-110862536)x3	EDAR, CCDC138 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +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 562653	GRCh37/hg19 2q12.3-13(chr2:108501887-110504318)x3	SEPTIN10, SOWAHC +10 more	Copy number gain	not provided	GUncertain significance
Select item 562633	GRCh37/hg19 2q12.3-13(chr2:109295035-110504318)x1	CCDC138, EDAR +4 more	Copy number loss	not provided	GUncertain significance
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 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 441591	GRCh37/hg19 2q12.3-13(chr2:108534030-110492791)x3	CCDC138, EDAR +9 more	Copy number gain	See cases	GUncertain significance
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

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Items: 76