28875[HGNC] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
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

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Items: 32