C1orf127[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	TMEM201, TMEM240 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	AADACL3, AADACL4 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	AADACL3, AADACL4 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	AADACL3, AADACL4 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	PRAMEF7, PRAMEF8 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	LOC129929417, LOC129929418 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	LOC129929360, LOC129929361 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 153433	GRCh38/hg38 1p36.22(chr1:10317912-11018880)x4	C1orf127, CASZ1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 57720	GRCh38/hg38 1p36.22(chr1:10637036-11293430)x3	ANGPTL7, C1orf127 +43 more	Copy number gain	See cases	GUncertain significance
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 2351084	NM_001170754.2(C1orf127):c.2311C>A (p.Leu771Ile)	C1orf127 (L771I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786448	NM_001170754.2(C1orf127):c.2065G>A (p.Gly689Arg)	C1orf127 (G550R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2241684	NM_001170754.2(C1orf127):c.1886G>T (p.Gly629Val)	C1orf127 (G490V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252989	NM_001170754.2(C1orf127):c.1432C>T (p.Pro478Ser)	C1orf127 (P478S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235445	NM_001170754.2(C1orf127):c.1253G>A (p.Arg418Gln)	C1orf127 (R279Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2366361	NM_001170754.2(C1orf127):c.787C>A (p.Gln263Lys)	C1orf127 (Q124K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215940	NM_001170754.2(C1orf127):c.695T>C (p.Val232Ala)	C1orf127 (V93A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335917	NM_001170754.2(C1orf127):c.337C>T (p.Arg113Ter)	C1orf127 (R113*)	Single nucleotide variant (nonsense +1 more)	Heterotaxy, visceral, 1, X-linked	GUncertain significance
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	VPS13D, AGTRAP +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425520	NC_000001.10:g.(?_10698999)_(11907741_?)dup	AGTRAP, ANGPTL7 +18 more	Duplication	Atrial fibrillation, familial, 6	GUncertain significance
Select item 2425278	NC_000001.10:g.(?_9770514)_(11264780_?)del	ANGPTL7, C1orf127 +20 more	Deletion	Immunodeficiency 14	GUncertain significance
Select item 2425245	NC_000001.10:g.(?_10753911)_(11854615_?)dup	AGTRAP, ANGPTL7 +16 more	Duplication	not provided	GUncertain significance
Select item 2425168	NC_000001.10:g.(?_10535024)_(11107264_?)dup	C1orf127, CASZ1 +3 more	Duplication	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 814054	GRCh37/hg19 1p36.22(chr1:10908411-11158092)x3	EXOSC10, C1orf127 +3 more	Copy number gain	not provided	GUncertain significance
Select item 814053	GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1	TARDBP, RBP7 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 685664	GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1	AADACL3, AADACL4 +38 more	Copy number loss	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441991	GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	AADACL3, AADACL4 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	PRAMEF5, PRAMEF6 +98 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	AADACL3, AADACL4 +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	C1orf159, C1orf167 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 54