31793[HGNC] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57911	GRCh38/hg38 10q26.11(chr10:118832386-119400019)x3	DENND10, EIF3A +36 more	Copy number gain	See cases	GUncertain significance
Select item 3081418	NM_207009.4(DENND10):c.8C>T (p.Ala3Val)	DENND10, LOC130004824 (A3V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3081406	NM_207009.4(DENND10):c.44T>C (p.Val15Ala)	DENND10, LOC130004824 (V15A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2481861	NM_207009.4(DENND10):c.47G>C (p.Gly16Ala)	DENND10, LOC130004824 (G16A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2485295	NM_207009.4(DENND10):c.104C>T (p.Thr35Met)	DENND10 (T35M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081405	NM_207009.4(DENND10):c.247A>C (p.Lys83Gln)	DENND10 (K83Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2551596	NM_207009.4(DENND10):c.380T>C (p.Ile127Thr)	DENND10 (I54T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081407	NM_207009.4(DENND10):c.452G>A (p.Arg151Gln)	DENND10 (R151Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081408	NM_207009.4(DENND10):c.479A>G (p.Lys160Arg)	DENND10 (K160R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2495048	NM_207009.4(DENND10):c.500G>A (p.Gly167Glu)	DENND10 (G159E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081410	NM_207009.4(DENND10):c.553G>A (p.Val185Met)	DENND10 (V112M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530203	NM_207009.4(DENND10):c.590C>T (p.Thr197Ile)	DENND10 (T124I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081411	NM_207009.4(DENND10):c.608T>C (p.Leu203Pro)	DENND10 (L130P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616360	NM_207009.4(DENND10):c.632C>T (p.Thr211Ile)	DENND10 (T138I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081412	NM_207009.4(DENND10):c.652C>T (p.His218Tyr)	DENND10 (H67Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081413	NM_207009.4(DENND10):c.661G>A (p.Ala221Thr)	DENND10 (A213T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081414	NM_207009.4(DENND10):c.761A>G (p.Asn254Ser)	DENND10 (N103S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081415	NM_207009.4(DENND10):c.785T>C (p.Ile262Thr)	DENND10 (I111T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081416	NM_207009.4(DENND10):c.823C>G (p.Leu275Val)	DENND10 (L202V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532727	NM_207009.4(DENND10):c.886C>T (p.His296Tyr)	DENND10 (H296Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081417	NM_207009.4(DENND10):c.896A>G (p.Gln299Arg)	DENND10 (Q299R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527607	GRCh37/hg19 10q26.11-26.13(chr10:120782191-123155522)	BAG3, DENND10 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1330213	GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1	CACUL1, PLPP4 +22 more	Copy number loss	Astigmatism +4 more	GUncertain significance
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 685600	GRCh37/hg19 10q26.11(chr10:120583488-121118862)x3	DENND10, EIF3A +4 more	Copy number gain	not provided	GUncertain significance
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563730	GRCh37/hg19 10q26.11(chr10:120826776-121098254)x3	PRDX3, SFXN4 +3 more	Copy number gain	not provided	GUncertain significance
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 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 54