ClinVar for Gene (Select 55629) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247719	NC_000001.10:g.(?_23395012)_(24673151_?)del	ASAP3, CNR2 +22 more	Deletion	Diamond-Blackfan anemia	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 2479680	NM_017761.4(PNRC2):c.119A>G (p.His40Arg)	PNRC2 (H40R)	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 2371775	NM_017761.4(PNRC2):c.215A>G (p.Gln72Arg)	PNRC2 (Q72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346152	NM_017761.4(PNRC2):c.140A>G (p.His47Arg)	PNRC2 (H47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299578	NM_017761.4(PNRC2):c.185G>C (p.Gly62Ala)	PNRC2 (G62A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272632	NM_017761.4(PNRC2):c.233T>C (p.Leu78Ser)	PNRC2 (L78S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251739	NM_017761.4(PNRC2):c.254T>C (p.Phe85Ser)	PNRC2 (F85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238464	NM_017761.4(PNRC2):c.160G>A (p.Ala54Thr)	PNRC2 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238151	NM_017761.4(PNRC2):c.218G>A (p.Ser73Asn)	PNRC2 (S73N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234867	NM_017761.4(PNRC2):c.10G>A (p.Gly4Arg)	PNRC2 (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809397	GRCh37/hg19 1p36.11(chr1:24111388-24686443)x3	CNR2, FUCA1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1809272	GRCh37/hg19 1p36.11(chr1:24111522-24614856)x3	CNR2, FUCA1 +9 more	Copy number gain	not provided	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
Select item 145815	GRCh38/hg38 1p36.11(chr1:23956536-23979263)x3	LOC129929694, LOC129929695 +4 more	Copy number gain	See cases	GLikely benign
Select item 144809	GRCh38/hg38 1p36.11(chr1:23956536-24001128)x3	LOC129929694, LOC129929695 +4 more	Copy number gain	See cases	GLikely benign

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Links from Gene

Items: 21