DECR1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 2621884	NM_001359.2(DECR1):c.53G>T (p.Gly18Val)	DECR1 (G18V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1498201	NM_001359.2(DECR1):c.58G>A (p.Ala20Thr)	DECR1 (A20T)	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 534666	NM_001359.2(DECR1):c.77G>A (p.Ser26Asn)	DECR1 (S26N +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more	GBenign/Likely benign
Select item 638468	NM_001359.2(DECR1):c.202G>A (p.Gly68Ser)	DECR1 (G68S +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 3040772	NM_001359.2(DECR1):c.258C>T (p.Cys86=)	DECR1	Single nucleotide variant (synonymous variant)	DECR1-related condition	GLikely benign
Select item 2325153	NM_001359.2(DECR1):c.281A>G (p.Asp94Gly)	DECR1 (D85G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 697432	NM_001359.2(DECR1):c.366T>C (p.Asp122=)	DECR1	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GBenign
Select item 2348784	NM_001359.2(DECR1):c.368T>C (p.Met123Thr)	DECR1 (M114T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279895	NM_001359.2(DECR1):c.369G>A (p.Met123Ile)	DECR1 (M123I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376871	NM_001359.2(DECR1):c.370G>A (p.Val124Ile)	DECR1 (V115I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570317	NM_001359.2(DECR1):c.418A>G (p.Ile140Val)	DECR1 (I131V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 705133	NM_001359.2(DECR1):c.432T>C (p.Asn144=)	DECR1	Single nucleotide variant (synonymous variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GBenign
Select item 2250026	NM_001359.2(DECR1):c.451T>C (p.Ser151Pro)	DECR1 (S142P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391458	NM_001359.2(DECR1):c.523G>A (p.Val175Met)	DECR1 (V166M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1409057	NM_001359.2(DECR1):c.619G>T (p.Val207Leu)	DECR1 (V198L +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GUncertain significance
Select item 749396	NM_001359.2(DECR1):c.719C>T (p.Pro240Leu)	DECR1 (P231L +1 more)	Single nucleotide variant (missense variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GLikely benign
Select item 2363673	NM_001359.2(DECR1):c.752G>A (p.Arg251His)	DECR1 (R251H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284298	NM_001359.2(DECR1):c.832G>A (p.Ala278Thr)	DECR1 (A269T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056853	NM_001359.2(DECR1):c.860A>G (p.Asp287Gly)	DECR1 (D278G +1 more)	Single nucleotide variant (missense variant)	DECR1-related condition	GLikely benign
Select item 764085	NM_001359.2(DECR1):c.879T>C (p.Asn293=)	DECR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 702371	NM_001359.2(DECR1):c.885+9del	DECR1	Deletion (intron variant)	Progressive encephalopathy with leukodystrophy due to DECR deficiency	GBenign
Select item 2552300	NM_001359.2(DECR1):c.886G>A (p.Val296Ile)	DECR1 (V296I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262905	NM_001359.2(DECR1):c.901G>A (p.Gly301Ser)	DECR1 (G292S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513106	NM_001359.2(DECR1):c.1001G>C (p.Gly334Ala)	DECR1 (G334A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1808058	GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1	ATP6V0D2, CALB1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527453	GRCh37/hg19 8q21.3(chr8:90742314-91017575)	DECR1, NBN +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979842	GRCh37/hg19 8q21.3(chr8:88194550-91779543)x3	NBN, OSGIN2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 833044	NC_000008.11:g.(?_89935041)_(90051917_?)dup	DECR1, NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 816526	GRCh37/hg19 8q21.3(chr8:90758337-91556317)x3	OSGIN2, NBN +3 more	Copy number gain	See cases	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 443390	GRCh37/hg19 8q21.3(chr8:90717375-91029121)x1	DECR1, NBN +2 more	Copy number loss	See cases	GUncertain significance
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	C8orf76, CALB1 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	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

Search results

Items: 64