DECR1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 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	LOC126860535, LOC126860536 +1687 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	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 3081234	NM_001359.2(DECR1):c.19G>T (p.Val7Phe)	DECR1 (V7F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2621884	NM_001359.2(DECR1):c.53G>T (p.Gly18Val)	DECR1 (G18V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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)	not specified +1 more	GUncertain significance
Select item 3352711	NM_001359.2(DECR1):c.69+4684C>T	DECR1	Single nucleotide variant (synonymous variant +1 more)	DECR1-related disorder	GLikely benign
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	GLikely 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 disorder	GLikely benign
Select item 2325153	NM_001359.2(DECR1):c.281A>G (p.Asp94Gly)	DECR1 (D85G +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2279895	NM_001359.2(DECR1):c.369G>A (p.Met123Ile)	DECR1 (M123I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376871	NM_001359.2(DECR1):c.370G>A (p.Val124Ile)	DECR1 (V115I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570317	NM_001359.2(DECR1):c.418A>G (p.Ile140Val)	DECR1 (I131V +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2391458	NM_001359.2(DECR1):c.523G>A (p.Val175Met)	DECR1 (V166M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1409057	NM_001359.2(DECR1):c.619G>T (p.Val207Leu)	DECR1 (V198L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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)	not specified	GUncertain significance
Select item 3081235	NM_001359.2(DECR1):c.791G>A (p.Gly264Asp)	DECR1 (G255D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284298	NM_001359.2(DECR1):c.832G>A (p.Ala278Thr)	DECR1 (A269T +1 more)	Single nucleotide variant (missense variant)	not specified	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 disorder	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)	not specified	GUncertain significance
Select item 2262905	NM_001359.2(DECR1):c.901G>A (p.Gly301Ser)	DECR1 (G292S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081236	NM_001359.2(DECR1):c.902G>A (p.Gly301Asp)	DECR1 (G292D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271426	NM_001359.2(DECR1):c.914T>C (p.Val305Ala)	DECR1 (V296A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513106	NM_001359.2(DECR1):c.1001G>C (p.Gly334Ala)	DECR1 (G334A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245498	NC_000008.10:g.(?_90947810)_(91064125_?)dup	DECR1, NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	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	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +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	AARD, ABRA +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)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 70