ClinVar for Gene (Select 58511) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273151	NM_021233.3(DNASE2B):c.964A>G (p.Ile322Val)	DNASE2B (I322V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084638	NM_021233.3(DNASE2B):c.809G>A (p.Arg270Gln)	DNASE2B (R270Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084637	NM_021233.3(DNASE2B):c.516A>G (p.Ile172Met)	DNASE2B (I172M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084636	NM_021233.3(DNASE2B):c.425T>G (p.Ile142Ser)	DNASE2B (I142S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084635	NM_021233.3(DNASE2B):c.332A>C (p.Asn111Thr)	DNASE2B (N111T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084634	NM_021233.3(DNASE2B):c.320A>G (p.Tyr107Cys)	DNASE2B (Y107C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084633	NM_021233.3(DNASE2B):c.1079G>A (p.Cys360Tyr)	DNASE2B (C152Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084631	NM_021233.3(DNASE2B):c.1037T>C (p.Ile346Thr)	DNASE2B (I138T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2559767	NM_021233.3(DNASE2B):c.912T>A (p.Asp304Glu)	DNASE2B (D96E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383525	NM_021233.3(DNASE2B):c.860A>G (p.Asn287Ser)	DNASE2B (N287S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380840	NM_021233.3(DNASE2B):c.136T>C (p.Tyr46His)	DNASE2B (Y46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359891	NM_021233.3(DNASE2B):c.311A>C (p.Asn104Thr)	DNASE2B (N104T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346683	NM_021233.3(DNASE2B):c.980G>A (p.Arg327Gln)	DNASE2B (R119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340530	NM_021233.3(DNASE2B):c.940G>A (p.Gly314Ser)	DNASE2B (G106S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318955	NM_021233.3(DNASE2B):c.623A>C (p.His208Pro)	DNASE2B (H208P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306862	NM_021233.3(DNASE2B):c.852T>G (p.His284Gln)	DNASE2B (H284Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294149	NM_021233.3(DNASE2B):c.731A>T (p.Asp244Val)	DNASE2B (D244V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527148	GRCh37/hg19 1p31.1-22.3(chr1:84084511-84921911)	DNASE2B, PRKACB +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
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 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
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 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 221413	GRCh37/hg19 1p31.1-22.3(chr1:84662362-85035719)x3	GNG5, CTBS +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 32