ClinVar for Gene (Select 115265) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3080776	NM_145244.4(DDIT4L):c.465T>G (p.Phe155Leu)	DDIT4L (F155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080775	NM_145244.4(DDIT4L):c.392T>C (p.Val131Ala)	DDIT4L (V131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080774	NM_145244.4(DDIT4L):c.37G>A (p.Ala13Thr)	DDIT4L (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080773	NM_145244.4(DDIT4L):c.293C>T (p.Thr98Met)	DDIT4L (T98M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080772	NM_145244.4(DDIT4L):c.186G>T (p.Glu62Asp)	DDIT4L (E62D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	ARHGEF38, ARL9 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685983	GRCh37/hg19 4q23-24(chr4:100980656-101197518)x3	DDIT4L	Copy number gain	not provided	GUncertain significance
Select item 2685124	GRCh37/hg19 4q23-24(chr4:100542119-103793167)x1	BANK1, CISD2 +12 more	Copy number loss	not provided	GPathogenic
Select item 2561205	NM_145244.4(DDIT4L):c.137A>G (p.Glu46Gly)	DDIT4L (E46G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535036	NM_145244.4(DDIT4L):c.310C>G (p.Arg104Gly)	DDIT4L (R104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319405	NM_145244.4(DDIT4L):c.314G>T (p.Gly105Val)	DDIT4L (G105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260894	NM_145244.4(DDIT4L):c.371T>C (p.Ile124Thr)	DDIT4L (I124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259923	NM_145244.4(DDIT4L):c.530T>C (p.Val177Ala)	DDIT4L (V177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253085	NM_145244.4(DDIT4L):c.209A>T (p.Gln70Leu)	DDIT4L (Q70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226124	NM_145244.4(DDIT4L):c.73C>T (p.Pro25Ser)	DDIT4L (P25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 155494	GRCh38/hg38 4q23-24(chr4:100021886-100301285)x1	DDIT4L, DDIT4L-AS1 +1 more	Copy number loss	See cases	GLikely benign
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	LOC129992850, LOC129992851 +123 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 29