ClinVar for Gene (Select 3399) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285216	NM_002167.5(ID3):c.73G>A (p.Ala25Thr)	ID3 (A25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258040	NM_002167.5(ID3):c.214C>T (p.Arg72Cys)	ID3 (R72C)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3247719	NC_000001.10:g.(?_23395012)_(24673151_?)del	ASAP3, CNR2 +22 more	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 3107997	NM_002167.5(ID3):c.272C>T (p.Pro91Leu)	ID3 (P91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2610567	NM_002167.5(ID3):c.16C>T (p.Pro6Ser)	ID3 (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604555	NM_002167.5(ID3):c.76C>T (p.Arg26Trp)	ID3 (R26W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462841	NM_002167.5(ID3):c.22C>T (p.Arg8Cys)	ID3 (R8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2385592	NM_002167.5(ID3):c.127G>A (p.Asp43Asn)	ID3 (D43N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808636	GRCh37/hg19 1p36.12-36.11(chr1:23680995-24224241)x3	ASAP3, CNR2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1703538	GRCh37/hg19 1p36.12-36.11(chr1:23814543-24163928)	E2F2, ELOA +7 more	Copy number loss	Lamb-Shaffer syndrome	GPathogenic
Select item 981842	NM_002167.5(ID3):c.145T>A (p.Ser49Thr)	ID3 (S49T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
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 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance