ClinVar for Gene (Select 57415) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062725	GRCh37/hg19 3p14.2(chr3:62215074-62390218)x1	CADPS, CEP15 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 2221230	NM_001291941.3(CEP15):c.365T>C (p.Ile122Thr)	CEP15 (I122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341307	GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not provided	GPathogenic
Select item 814450	GRCh37/hg19 3p14.2-14.1(chr3:62206958-63944889)x3	C3orf14, ATXN7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814449	GRCh37/hg19 3p14.2-14.1(chr3:60449667-65561638)x1	SYNPR, ATXN7 +11 more	Copy number loss	not provided	GPathogenic
Select item 685671	GRCh37/hg19 3p14.3-14.1(chr3:57076136-65716956)x1	ABHD6, ACOX2 +34 more	Copy number loss	not provided	GPathogenic
Select item 685135	GRCh37/hg19 3p14.2-14.1(chr3:60844727-63983596)x1	ATXN7, C3orf14 +7 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442399	GRCh37/hg19 3p14.2-14.1(chr3:60526226-63742930)x1	CADPS, CEP15 +5 more	Copy number loss	See cases	GLikely pathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 57136	GRCh38/hg38 3p14.2-14.1(chr3:61970847-68465832)x1	ADAMTS9, ADAMTS9-AS1 +106 more	Copy number loss	See cases	GPathogenic