ClinVar for Gene (Select 91614) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063213	GRCh37/hg19 11p13(chr11:32963206-33652440)x1	CSTF3, DEPDC7 +5 more	Copy number loss	not specified	GUncertain significance
Select item 2493302	NM_001077242.2(DEPDC7):c.1450A>G (p.Lys484Glu)	DEPDC7 (K484E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377868	NM_001077242.2(DEPDC7):c.106A>G (p.Thr36Ala)	DEPDC7 (T36A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376389	NM_001077242.2(DEPDC7):c.943C>T (p.Pro315Ser)	DEPDC7 (P306S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353967	NM_001077242.2(DEPDC7):c.1102G>A (p.Ala368Thr)	DEPDC7 (A368T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336157	NM_001077242.2(DEPDC7):c.865C>G (p.Pro289Ala)	DEPDC7 (P280A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327212	NM_001077242.2(DEPDC7):c.80G>A (p.Ser27Asn)	DEPDC7 (S18N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315162	NM_001077242.2(DEPDC7):c.466T>A (p.Tyr156Asn)	DEPDC7 (Y156N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296365	NM_001077242.2(DEPDC7):c.37C>T (p.Leu13Phe)	DEPDC7 (L13F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 1340572	GRCh37/hg19 11p13(chr11:33050614-33532548)x3	CSTF3, DEPDC7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1184314	NC_000011.10:g.32963226_33107103dup	CSTF3, DEPDC7 +10 more	Duplication	not provided	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 992807	NM_001077242.2(DEPDC7):c.763A>T (p.Lys255Ter)	DEPDC7 (K246* +1 more)	Single nucleotide variant (nonsense)	Autism	GUncertain significance
Select item 979924	GRCh37/hg19 11p13(chr11:32975924-33678760)x3	CSTF3, KIAA1549L +5 more	Copy number gain	not provided	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	GALNT18, SAA1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
Select item 713409	NM_001077242.2(DEPDC7):c.1332T>G (p.Asn444Lys)	DEPDC7 (N435K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 563870	GRCh37/hg19 11p13(chr11:32573618-34130228)x1	LMO2, NAT10 +14 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	APIP, BDNF +50 more	Copy number loss	See cases	GPathogenic
Select item 395557	GRCh37/hg19 11p13(chr11:33038111-33498352)x3	HIPK3, LINC00294 +3 more	Copy number gain	See cases	GUncertain significance
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 394748	GRCh37/hg19 11p13(chr11:33049228-33249368)x3	CSTF3, DEPDC7 +2 more	Copy number gain	See cases	GUncertain significance
Select item 393967	GRCh37/hg19 11p13(chr11:33038111-33076221)x3	DEPDC7, TCP11L1	Copy number gain	See cases	GUncertain significance
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 147329	GRCh38/hg38 11p13(chr11:32986646-33573778)x3	CSTF3, CSTF3-DT +26 more	Copy number gain	See cases	GUncertain significance
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 56995	GRCh38/hg38 11p13(chr11:33031527-33620145)x3	CSTF3, CSTF3-DT +22 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 44