ClinVar for Gene (Select 100616132) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1642019	NM_004448.4(ERBB2):c.2873-5C>T	ERBB2, MIR4728	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1589358	NM_004448.4(ERBB2):c.2873-17C>A	ERBB2, MIR4728	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1571778	NM_004448.4(ERBB2):c.2873-15T>A	ERBB2, MIR4728	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

ClinVar