ClinVar for Gene (Select 51538) - ClinVar - NCBI

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2599560	NM_016505.4(ZCCHC17):c.10G>A (p.Gly4Arg)	ZCCHC17 (G4R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2541608	NM_016505.4(ZCCHC17):c.544C>T (p.Pro182Ser)	ZCCHC17 (P120S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2460626	NM_016505.4(ZCCHC17):c.13A>G (p.Arg5Gly)	ZCCHC17 (R5G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2398112	NM_016505.4(ZCCHC17):c.27G>A (p.Met9Ile)	ZCCHC17 (M9I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2378382	NM_016505.4(ZCCHC17):c.332G>A (p.Arg111Gln)	ZCCHC17 (R133Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1340269	GRCh37/hg19 1p35.2(chr1:31766058-31921862)x1	FABP3, SERINC2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
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 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 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 154651	GRCh38/hg38 1p35.2(chr1:30811959-31402772)x1	FABP3, LINC01778 +28 more	Copy number loss	See cases	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	ADGRB2, AK2 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	LOC129929990, LOC129929991 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic