ClinVar for Gene (Select 151011) - ClinVar

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3024348	GRCh38/hg38 2q13(chr2:109301667-110460985)	LOC112695115, LOC126806305 +33 more	Copy number gain	Autism spectrum disorder	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 2651262	NM_144710.5(SEPTIN10):c.28C>T (p.Leu10=)	SEPTIN10, LOC129934550 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 153634	GRCh38/hg38 2q12.3-13(chr2:108660713-109735214)x1	CCDC138, EDAR +44 more	Copy number loss	See cases	GUncertain significance
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 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 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 148286	GRCh38/hg38 2q13(chr2:108719125-110611314)x3	CCDC138, EDAR +61 more	Copy number gain	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 146441	GRCh38/hg38 2q12.3-13(chr2:108593876-109700179)x1	CCDC138, EDAR +50 more	Copy number loss	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 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57544	GRCh38/hg38 2q12.3-13(chr2:108579001-109736559)x1	CCDC138, EDAR +51 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 92