Related gene-specific medical variations for Gene (Select 84668) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1527342	GRCh37/hg19 7p15.3(chr7:23002915-23041593)	HYCC1	Copy number loss	not specified	GUncertain significance
Select item 908205	NM_032581.4(HYCC1):c.-89C>T	HYCC1, LOC129998062	Single nucleotide variant (5 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359788	NM_032581.4(HYCC1):c.-202C>T	HYCC1, LOC129998062	Single nucleotide variant (5 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 359787	NM_032581.4(HYCC1):c.-186_-183del	HYCC1, LOC129998062	Deletion (5 prime UTR variant)	Hypomyelination and Congenital Cataract	GLikely benign
Select item 359786	NM_032581.4(HYCC1):c.-111G>A	HYCC1, LOC129998062	Single nucleotide variant (5 prime UTR variant)	Hypomyelination and Congenital Cataract	GUncertain significance
Select item 156348	NM_032581.4(HYCC1):c.414+1G>C	HYCC1	Single nucleotide variant (splice donor variant)	Hypomyelination and Congenital Cataract	Gnot provided

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