Related gene-specific medical variations for Gene (Select 10973) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062938	GRCh37/hg19 6q16.3(chr6:101219676-101648870)x1	ASCC3	Copy number loss	not specified	GUncertain significance
Select item 2684449	GRCh37/hg19 6q16.3(chr6:100914616-101189581)x3	ASCC3	Copy number gain	not provided	GUncertain significance
Select item 2582625	NM_006828.4(ASCC3):c.5065C>T (p.Arg1689Cys)	ASCC3 (R1689C)	Single nucleotide variant (missense variant)	ASCC3-related disorder	GUncertain significance
Select item 2582588	NM_006828.4(ASCC3):c.3101T>A (p.Leu1034Ter)	ASCC3 (L1034*)	Single nucleotide variant (nonsense)	ASCC3-related disorder	GLikely pathogenic
Select item 1340754	GRCh37/hg19 6q16.3(chr6:101300165-101356389)x1	ASCC3	Copy number loss	not provided	GUncertain significance
Select item 816615	GRCh37/hg19 6q16.3(chr6:101195502-101520675)x1	ASCC3	Copy number loss	not provided	GUncertain significance
Select item 816614	GRCh37/hg19 6q16.3(chr6:101118288-101216562)x1	ASCC3	Copy number loss	not provided	GUncertain significance

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