ClinVar for Gene (Select 729220) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2358534	NR_164135.1(FLJ45513):n.366G>A	FLJ45513, TAC4 (R62H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255281	NR_164135.1(FLJ45513):n.566T>G	FLJ45513, TAC4 (S129A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
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 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	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

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