25528[HGNC] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	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 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 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 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 2325867	NM_018090.5(NECAP2):c.13G>C (p.Gly5Arg)	NECAP2 (G5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790474	NM_018090.5(NECAP2):c.30C>G (p.Leu10=)	NECAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2604819	NM_018090.5(NECAP2):c.50A>T (p.His17Leu)	NECAP2 (H17L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401316	NM_018090.5(NECAP2):c.50A>G (p.His17Arg)	NECAP2 (H17R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190352	NM_018090.5(NECAP2):c.68C>T (p.Pro23Leu)	NECAP2 (P23L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299136	NM_018090.5(NECAP2):c.133C>T (p.Arg45Trp)	NECAP2 (R45W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224427	NM_018090.5(NECAP2):c.134G>A (p.Arg45Gln)	NECAP2 (R19Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360297	NM_018090.5(NECAP2):c.215C>T (p.Pro72Leu)	NECAP2 (P46L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223404	NM_018090.5(NECAP2):c.217G>A (p.Val73Met)	NECAP2 (V47M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518452	NM_018090.5(NECAP2):c.254C>T (p.Thr85Met)	NECAP2 (T59M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314617	NM_018090.5(NECAP2):c.305G>A (p.Arg102Gln)	NECAP2 (R76Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161534	NM_018090.5(NECAP2):c.462G>T (p.Glu154Asp)	NECAP2 (E154D +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 3299134	NM_018090.5(NECAP2):c.491A>T (p.Asn164Ile)	LOC129929529, NECAP2 (N164I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299132	NM_018090.5(NECAP2):c.532C>T (p.Arg178Trp)	NECAP2 (R152W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299135	NM_018090.5(NECAP2):c.557G>C (p.Ser186Thr)	NECAP2 (S186T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190338	NM_018090.5(NECAP2):c.563T>C (p.Leu188Pro)	NECAP2 (L162P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190341	NM_018090.5(NECAP2):c.568C>T (p.Pro190Ser)	NECAP2 (P164S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190344	NM_018090.5(NECAP2):c.575C>G (p.Pro192Arg)	NECAP2 (P166R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190347	NM_018090.5(NECAP2):c.584A>C (p.Lys195Thr)	NECAP2 (K169T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190349	NM_018090.5(NECAP2):c.749C>A (p.Thr250Asn)	NECAP2 (L225I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286493	NM_018090.5(NECAP2):c.786G>C (p.Gln262His)	NECAP2 (Q236H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357635	NM_018090.5(NECAP2):c.*9C>T	NECAP2 (T242M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190355	NM_018090.5(NECAP2):c.*44C>T	NECAP2 (P254S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190362	NM_018090.5(NECAP2):c.*63A>G	NECAP2 (K260R)	Single nucleotide variant (missense variant +1 more)	not specified	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 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 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 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 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 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	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 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 221373	GRCh37/hg19 1p36.13(chr1:16782351-17359598)x1	ATP13A2, CROCC +9 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 46