ClinVar for Gene (Select 10085) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274508	NM_005711.5(EDIL3):c.1342G>A (p.Asp448Asn)	EDIL3 (D448N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274507	NM_005711.5(EDIL3):c.448A>G (p.Met150Val)	EDIL3 (M150V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274506	NM_005711.5(EDIL3):c.776T>C (p.Met259Thr)	EDIL3 (M259T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087193	NM_005711.5(EDIL3):c.833A>G (p.Asn278Ser)	EDIL3 (N268S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087192	NM_005711.5(EDIL3):c.496G>A (p.Gly166Ser)	EDIL3 (G166S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087191	NM_005711.5(EDIL3):c.185T>C (p.Val62Ala)	EDIL3 (V62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087190	NM_005711.5(EDIL3):c.178T>G (p.Ser60Ala)	EDIL3 (S60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087189	NM_005711.5(EDIL3):c.1366A>G (p.Ile456Val)	EDIL3 (I456V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087188	NM_005711.5(EDIL3):c.1162G>A (p.Val388Met)	EDIL3 (V378M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685161	GRCh37/hg19 5q14.3(chr5:83186450-85958969)x1	COX7C, EDIL3	Copy number loss	not provided	GUncertain significance
Select item 2684423	GRCh37/hg19 5q14.2-14.3(chr5:82763019-83282008)x3	EDIL3, HAPLN1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2616520	NM_005711.5(EDIL3):c.56A>G (p.Gln19Arg)	EDIL3, EDIL3-DT (Q19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593236	NM_005711.5(EDIL3):c.149G>C (p.Cys50Ser)	EDIL3 (C50S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554999	NM_005711.5(EDIL3):c.641C>T (p.Pro214Leu)	EDIL3 (P214L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552084	NM_005711.5(EDIL3):c.719C>T (p.Pro240Leu)	EDIL3 (P230L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491606	NM_005711.5(EDIL3):c.1205T>C (p.Val402Ala)	EDIL3 (V402A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464723	NM_005711.5(EDIL3):c.1018A>G (p.Ile340Val)	EDIL3 (I330V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455483	NM_005711.5(EDIL3):c.911A>G (p.His304Arg)	EDIL3 (H294R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410499	NM_005711.5(EDIL3):c.263C>T (p.Thr88Ile)	EDIL3 (T88I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404111	NM_005711.5(EDIL3):c.542G>A (p.Arg181Gln)	EDIL3 (R171Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384885	NM_005711.5(EDIL3):c.77G>A (p.Cys26Tyr)	EDIL3 (C26Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369983	NM_005711.5(EDIL3):c.373G>A (p.Val125Ile)	EDIL3 (V115I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363361	NM_005711.5(EDIL3):c.30G>T (p.Leu10Phe)	EDIL3, EDIL3-DT (L10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359349	NM_005711.5(EDIL3):c.867A>G (p.Ile289Met)	EDIL3 (I289M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350911	NM_005711.5(EDIL3):c.823A>G (p.Ile275Val)	EDIL3 (I265V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342225	NM_005711.5(EDIL3):c.1030C>T (p.Leu344Phe)	EDIL3 (L344F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342094	NM_005711.5(EDIL3):c.73A>G (p.Ile25Val)	EDIL3 (I25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340413	NM_005711.5(EDIL3):c.194T>C (p.Val65Ala)	EDIL3 (V65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326286	NM_005711.5(EDIL3):c.125C>T (p.Ala42Val)	EDIL3 (A42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308078	NM_005711.5(EDIL3):c.223G>T (p.Ala75Ser)	EDIL3 (A75S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242249	NM_005711.5(EDIL3):c.19G>C (p.Val7Leu)	EDIL3, EDIL3-DT (V7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240358	NM_005711.5(EDIL3):c.826G>A (p.Asp276Asn)	EDIL3 (D266N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236713	NM_005711.5(EDIL3):c.749A>G (p.Tyr250Cys)	EDIL3 (Y250C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236260	NM_005711.5(EDIL3):c.563A>C (p.Lys188Thr)	EDIL3 (K178T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527176	GRCh37/hg19 5q14.3(chr5:83173756-84170267)	EDIL3	Copy number gain	not specified	GUncertain significance
Select item 1527175	GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454)	ADGRV1, CCNH +15 more	Copy number loss	not specified	GPathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 737422	NM_005711.5(EDIL3):c.1137+6G>A	EDIL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722058	NM_005711.5(EDIL3):c.865A>G (p.Ile289Val)	EDIL3 (I289V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721262	NM_005711.5(EDIL3):c.68-18dup	EDIL3	Duplication (intron variant)	not provided	GBenign
Select item 709768	NM_005711.5(EDIL3):c.765G>C (p.Lys255Asn)	EDIL3 (K255N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689011	GRCh37/hg19 5q14.3(chr5:83497559-88416354)x1	CCNH, COX7C +5 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563086	GRCh37/hg19 5q14.3(chr5:83628214-83932158)x3	EDIL3	Copy number gain	not provided	GUncertain significance
Select item 563085	GRCh37/hg19 5q14.3(chr5:83625275-84846199)x1	EDIL3	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 146058	GRCh38/hg38 5q14.3(chr5:84342580-85547289)x1	EDIL3, EDIL3-DT +1 more	Copy number loss	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 50