ClinVar for Gene (Select 59286) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2604431	NM_001048241.3(UBL5):c.31G>T (p.Gly11Trp)	UBL5 (G11W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 221397	GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	ACTL9, ADAMTS10 +28 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221349	Single allele	COL5A3, FBXL12 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic