14349[HGNC] - ClinVar

Search results

Items: 95

	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 3317470	NM_144710.5(SEPTIN10):c.1343G>T (p.Arg448Leu)	RANBP2, SEPTIN10 (R315L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160021	NM_144710.5(SEPTIN10):c.1175T>C (p.Phe392Ser)	RANBP2, SEPTIN10 (F199S +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160019	NM_144710.5(SEPTIN10):c.1169C>T (p.Ala390Val)	RANBP2, SEPTIN10 (A367V +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160017	NM_144710.5(SEPTIN10):c.1076G>T (p.Arg359Leu)	RANBP2, SEPTIN10 (R166L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160016	NM_144710.5(SEPTIN10):c.1070G>A (p.Gly357Asp)	RANBP2, SEPTIN10 (G334D +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160049	NM_144710.5(SEPTIN10):c.932G>T (p.Arg311Leu)	RANBP2, SEPTIN10 (R144L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160048	NM_144710.5(SEPTIN10):c.916A>T (p.Asn306Tyr)	RANBP2, SEPTIN10 (N297Y +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160047	NM_144710.5(SEPTIN10):c.905T>C (p.Leu302Pro)	RANBP2, SEPTIN10 (L112P +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160046	NM_144710.5(SEPTIN10):c.896G>A (p.Arg299Gln)	RANBP2, SEPTIN10 (R166Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614087	NM_144710.5(SEPTIN10):c.837G>C (p.Gln279His)	RANBP2, SEPTIN10 (Q112H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160045	NM_144710.5(SEPTIN10):c.835C>G (p.Gln279Glu)	RANBP2, SEPTIN10 (Q256E +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160044	NM_144710.5(SEPTIN10):c.833G>A (p.Arg278His)	RANBP2, SEPTIN10 (R255H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160043	NM_144710.5(SEPTIN10):c.832C>T (p.Arg278Cys)	RANBP2, SEPTIN10 (R255C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160042	NM_144710.5(SEPTIN10):c.824T>G (p.Val275Gly)	RANBP2, SEPTIN10 (V243G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559196	NM_144710.5(SEPTIN10):c.823G>A (p.Val275Ile)	RANBP2, SEPTIN10 (V260I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160041	NM_144710.5(SEPTIN10):c.822G>T (p.Met274Ile)	RANBP2, SEPTIN10 (M107I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484143	NM_144710.5(SEPTIN10):c.819G>C (p.Lys273Asn)	RANBP2, SEPTIN10 (K106N +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160040	NM_144710.5(SEPTIN10):c.811G>A (p.Gly271Arg)	RANBP2, SEPTIN10 (G104R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491575	NM_144710.5(SEPTIN10):c.793A>G (p.Met265Val)	RANBP2, SEPTIN10 (M223V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160039	NM_144710.5(SEPTIN10):c.785T>C (p.Val262Ala)	RANBP2, SEPTIN10 (V220A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160038	NM_144710.5(SEPTIN10):c.777T>G (p.Phe259Leu)	RANBP2, SEPTIN10 (F227L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591640	NM_144710.5(SEPTIN10):c.775T>C (p.Phe259Leu)	RANBP2, SEPTIN10 (F259L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160037	NM_144710.5(SEPTIN10):c.731A>G (p.Asp244Gly)	RANBP2, SEPTIN10 (D221G +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160036	NM_144710.5(SEPTIN10):c.695A>G (p.Asn232Ser)	RANBP2, SEPTIN10 (N190S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160034	NM_144710.5(SEPTIN10):c.667A>G (p.Ile223Val)	RANBP2, SEPTIN10 (I181V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611184	NM_144710.5(SEPTIN10):c.621T>G (p.Ile207Met)	RANBP2, SEPTIN10 (I17M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541851	NM_144710.5(SEPTIN10):c.586A>G (p.Asn196Asp)	RANBP2, SEPTIN10 (N154D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160032	NM_144710.5(SEPTIN10):c.550C>G (p.His184Asp)	RANBP2, SEPTIN10 (H142D +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465949	NM_144710.5(SEPTIN10):c.548G>A (p.Gly183Asp)	RANBP2, SEPTIN10 (G168D +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317471	NM_144710.5(SEPTIN10):c.542C>T (p.Pro181Leu)	RANBP2, SEPTIN10 (P166L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455930	NM_144710.5(SEPTIN10):c.532T>C (p.Phe178Leu)	RANBP2, SEPTIN10 (F146L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317472	NM_144710.5(SEPTIN10):c.530A>G (p.Tyr177Cys)	RANBP2, SEPTIN10 (Y135C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160031	NM_144710.5(SEPTIN10):c.520G>T (p.Val174Leu)	RANBP2, SEPTIN10 (V142L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160030	NM_144710.5(SEPTIN10):c.500A>G (p.Tyr167Cys)	RANBP2, SEPTIN10 (Y152C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160029	NM_144710.5(SEPTIN10):c.458A>G (p.Tyr153Cys)	RANBP2, SEPTIN10 (Y121C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160028	NM_144710.5(SEPTIN10):c.443C>T (p.Ala148Val)	RANBP2, SEPTIN10 (A106V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160027	NM_144710.5(SEPTIN10):c.434A>G (p.Tyr145Cys)	RANBP2, SEPTIN10 (Y130C +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160026	NM_144710.5(SEPTIN10):c.329A>G (p.Tyr110Cys)	RANBP2, SEPTIN10 (Y101C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550044	NM_144710.5(SEPTIN10):c.244C>G (p.Leu82Val)	RANBP2, SEPTIN10 (L50V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160025	NM_144710.5(SEPTIN10):c.218G>A (p.Gly73Glu)	RANBP2, SEPTIN10 (G58E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511066	NM_144710.5(SEPTIN10):c.188A>G (p.Gln63Arg)	RANBP2, SEPTIN10 (Q31R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160023	NM_144710.5(SEPTIN10):c.143G>A (p.Gly48Asp)	RANBP2, SEPTIN10 (G16D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2651261	NM_144710.5(SEPTIN10):c.133G>A (p.Gly45Ser)	RANBP2, SEPTIN10 (G13S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3160022	NM_144710.5(SEPTIN10):c.127A>G (p.Met43Val)	RANBP2, SEPTIN10 (M11V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588847	NM_144710.5(SEPTIN10):c.119C>T (p.Ser40Leu)	RANBP2, SEPTIN10 (S8L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160020	NM_144710.5(SEPTIN10):c.116G>A (p.Arg39His)	RANBP2, SEPTIN10 (R16H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160018	NM_144710.5(SEPTIN10):c.115C>T (p.Arg39Cys)	RANBP2, SEPTIN10 (R30C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160035	NM_144710.5(SEPTIN10):c.67A>G (p.Met23Val)	RANBP2, SEPTIN10 (M23V +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2589910	NM_144710.5(SEPTIN10):c.53C>T (p.Thr18Met)	RANBP2, SEPTIN10 (T9M +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2651262	NM_144710.5(SEPTIN10):c.28C>T (p.Leu10=)	LOC129934550, RANBP2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3160024	NM_144710.5(SEPTIN10):c.16G>A (p.Val6Met)	LOC129934550, RANBP2 +1 more (V6M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3160033	NM_144710.5(SEPTIN10):c.5C>T (p.Ala2Val)	LOC129934550, RANBP2 +1 more (A2V)	Single nucleotide variant (5 prime UTR variant +1 more)	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	SOWAHC, CCDC138 +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: 95