ClinVar for Gene (Select 4879) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300838	NM_002521.3(NPPB):c.257G>C (p.Gly86Ala)	NPPB (G86A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300837	NM_002521.3(NPPB):c.207G>C (p.Glu69Asp)	NPPB (E69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3247909	NC_000001.10:g.(?_10710729)_(12030893_?)del	AGTRAP, FBXO6 +21 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3201743	NM_002521.3(NPPB):c.398G>A (p.Arg133Gln)	NPPB (R133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201742	NM_002521.3(NPPB):c.380G>A (p.Gly127Asp)	NPPB (G127D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201741	NM_002521.3(NPPB):c.317T>C (p.Met106Thr)	NPPB (M106T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201740	NM_002521.3(NPPB):c.295C>T (p.Arg99Trp)	NPPB (R99W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201739	NM_002521.3(NPPB):c.238C>T (p.Arg80Trp)	NPPB (R80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201738	NM_002521.3(NPPB):c.224G>A (p.Gly75Asp)	NPPB (G75D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201737	NM_002521.3(NPPB):c.150G>T (p.Leu50Phe)	NPPB (L50F)	Single nucleotide variant (missense variant)	not specified	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 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2533768	NM_002521.3(NPPB):c.257G>A (p.Gly86Asp)	NPPB (G86D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485866	NM_002521.3(NPPB):c.25C>T (p.Arg9Trp)	NPPB (R9W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468071	NM_002521.3(NPPB):c.188C>T (p.Ser63Phe)	NPPB (S63F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425997	NC_000001.10:g.(?_11906066)_(12066770_?)dup	KIAA2013, MFN2 +3 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2422836	NC_000001.10:g.(?_11847760)_(12066770_?)dup	CLCN6, KIAA2013 +5 more	Duplication	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 2336725	NM_002521.3(NPPB):c.268C>T (p.His90Tyr)	NPPB (H90Y)	Single nucleotide variant (missense variant)	not specified	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 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1373861	NC_000001.10:g.(?_11850737)_(12569078_?)dup	CLCN6, KIAA2013 +9 more	Duplication	not provided	GUncertain significance
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 830841	NC_000001.11:g.(?_11012634)_(11934865_?)del	AGTRAP, ANGPTL7 +19 more	Deletion	Atrial fibrillation, familial, 6	GUncertain significance
Select item 787737	NM_002521.3(NPPB):c.388+10C>A	NPPB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787694	NM_002521.3(NPPB):c.280G>T (p.Val94Phe)	NPPB (V94F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777883	NM_002521.3(NPPB):c.54T>C (p.His18=)	NPPB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770839	NM_002521.3(NPPB):c.237C>T (p.Ser79=)	NPPB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722224	NM_002521.3(NPPB):c.215G>A (p.Arg72His)	NPPB (R72H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710871	NM_002521.3(NPPB):c.74G>T (p.Arg25Leu)	NPPB (R25L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686616	GRCh37/hg19 1p36.22(chr1:11846836-12055790)x1	CLCN6, KIAA2013 +5 more	Copy number loss	not provided	GUncertain significance
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 638125	GRCh37/hg19 1p36.22-36.21(chr1:11794553-12786444)x3	AADACL3, AADACL4 +14 more	Copy number gain	See cases	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625539	GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739)	AADACL3, AADACL4 +21 more	Copy number loss	not provided	GPathogenic
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +53 more	Copy number loss	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442266	GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	AADACL3, AADACL4 +43 more	Copy number gain	See cases	GUncertain significance
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	AADACL3, AADACL4 +97 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	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	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 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 150812	GRCh38/hg38 1p36.22(chr1:11737130-12006139)x3	AGTRAP, C1orf167 +28 more	Copy number gain	See cases	GUncertain significance
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 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 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 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 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
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 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 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 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	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 57722	GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3	AGTRAP, C1orf167 +62 more	Copy number gain	See cases	GUncertain significance
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 72