Related gene-specific medical variations for Gene (Select 4651) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064964	NM_012334.3(MYO10):c.841_844del (p.Ser281fs)	MYO10 (S281fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2672115	NM_012334.3(MYO10):c.88G>A (p.Gly30Ser)	MYO10 (G30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809093	GRCh37/hg19 5p15.1(chr5:16920463-17134432)x3	MYO10	Copy number gain	not provided	GUncertain significance
Select item 979512	GRCh37/hg19 5p15.1(chr5:16670513-17011470)x1	MYO10	Copy number loss	not provided	GUncertain significance
Select item 268188	GRCh37/hg19 5p15.1(chr5:16875518-17014287)x3	MYO10	Copy number gain	not provided	GUncertain significance
Select item 226169	GRCh37/hg19 5p15.1(chr5:16652934-16771046)	MYO10	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 152883	GRCh38/hg38 5p15.1(chr5:16687561-16803648)x3	MYO10	Copy number gain	See cases	GUncertain significance

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