ClinVar for Gene (Select 2959) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685809	GRCh37/hg19 1p22.2(chr1:88895486-91863052)x3	BARHL2, GBP1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685499	GRCh37/hg19 1p22.3-22.2(chr1:87511398-90730302)x1	GBP1, GBP2 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2510045	NM_001514.6(GTF2B):c.293A>G (p.Asn98Ser)	GTF2B (N98S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345960	NM_001514.6(GTF2B):c.88G>A (p.Gly30Ser)	GTF2B (G30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344922	NM_001514.6(GTF2B):c.547G>A (p.Val183Ile)	GTF2B (V183I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 814106	GRCh37/hg19 1p22.2(chr1:89018909-89483015)x3	GBP3, PKN2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685792	GRCh37/hg19 1p22.2(chr1:89239549-89733747)x3	GBP1, GBP2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565120	GRCh37/hg19 1p22.2(chr1:88840026-89512154)x3	PKN2, GBP3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC126805769, LOC126805770 +548 more	Copy number gain	See cases	GPathogenic