ClinVar for Gene (Select 1676) - ClinVar

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Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	KCNAB2, KIF1B +76 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 3081810	NM_004401.3(DFFA):c.845C>T (p.Thr282Met)	DFFA (T282M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081808	NM_004401.3(DFFA):c.707C>T (p.Ala236Val)	DFFA (A236V)	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 3063344	GRCh37/hg19 1p36.22(chr1:10496415-10632298)x1	CENPS, CENPS-CORT +3 more	Copy number loss	not specified	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2607359	NM_004401.3(DFFA):c.751C>T (p.Pro251Ser)	DFFA (P251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513116	NM_004401.3(DFFA):c.698C>T (p.Ser233Leu)	DFFA (S233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462594	NM_004401.3(DFFA):c.872G>A (p.Arg291Gln)	DFFA (R291Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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	CENPS, CENPS-CORT +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425278	NC_000001.10:g.(?_9770514)_(11264780_?)del	ANGPTL7, C1orf127 +20 more	Deletion	Immunodeficiency 14	GUncertain significance
Select item 2410644	NM_004401.3(DFFA):c.370T>G (p.Trp124Gly)	DFFA (W124G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390916	NM_004401.3(DFFA):c.115C>T (p.Leu39Phe)	DFFA (L39F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386054	NM_004401.3(DFFA):c.748G>C (p.Ala250Pro)	DFFA (A250P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368301	NM_004401.3(DFFA):c.418C>T (p.Leu140Phe)	DFFA (L140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367181	NM_004401.3(DFFA):c.584A>T (p.Tyr195Phe)	DFFA (Y195F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338686	NM_004401.3(DFFA):c.389A>G (p.Gln130Arg)	DFFA (Q130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310735	NM_004401.3(DFFA):c.905G>A (p.Ser302Asn)	DFFA (S302N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285706	NM_004401.3(DFFA):c.290A>G (p.Asn97Ser)	DFFA (N97S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278902	NM_004401.3(DFFA):c.476A>C (p.Gln159Pro)	DFFA (Q159P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257414	NM_004401.3(DFFA):c.529C>G (p.Gln177Glu)	DFFA (Q177E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221246	NM_004401.3(DFFA):c.374A>G (p.Lys125Arg)	DFFA (K125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216032	NM_004401.3(DFFA):c.953G>T (p.Gly318Val)	DFFA (G318V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214848	NM_004401.3(DFFA):c.926T>C (p.Ile309Thr)	DFFA (I309T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212400	NM_004401.3(DFFA):c.151G>C (p.Ala51Pro)	DFFA (A51P)	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 1444512	NC_000001.10:g.(?_10394568)_(10566215_?)del	CENPS-CORT, CORT +5 more	Deletion	Charcot-Marie-Tooth disease type 2	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 831335	NC_000001.10:g.(?_9770494)_(10690064_?)del	PIK3CD, RBP7 +12 more	Deletion	Immunodeficiency 14	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 791778	NM_004401.3(DFFA):c.765A>T (p.Leu255Phe)	DFFA (L255F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 786715	NM_004401.3(DFFA):c.974G>A (p.Arg325Gln)	DFFA (R325Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 782903	NM_004401.3(DFFA):c.900G>A (p.Thr300=)	DFFA	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 777880	NM_004401.3(DFFA):c.493T>C (p.Cys165Arg)	DFFA (C165R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771301	NM_004401.3(DFFA):c.886C>T (p.Arg296Cys)	DFFA (R296C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 685022	GRCh37/hg19 1p36.22(chr1:10524101-10640226)x1	DFFA, PEX14	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 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
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 153433	GRCh38/hg38 1p36.22(chr1:10317912-11018880)x4	C1orf127, CASZ1 +48 more	Copy number gain	See cases	GUncertain significance
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 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 148364	GRCh38/hg38 1p36.22(chr1:10245412-10637093)x1	CENPS, CENPS-CORT +30 more	Copy number loss	See cases	GLikely pathogenic
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 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

ClinVar

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Germline classification

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Links from Gene

Items: 68