Related gene-specific medical variations for Gene (Select 4641) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3401431	NM_001080779.2(MYO1C):c.1648G>A (p.Glu550Lys)	LOC130059879, MYO1C (E550K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067940	NM_001080779.2(MYO1C):c.75+5G>A	MYO1C	Single nucleotide variant (intron variant)	Miller Dieker syndrome	GUncertain significance
Select item 2689513	NM_001080779.2(MYO1C):c.2410G>A (p.Glu804Lys)	MYO1C (E769K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316220	NM_001080779.2(MYO1C):c.76-1458C>G	LOC130059882, MYO1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273599	NM_001080779.2(MYO1C):c.76-1409G>A	LOC130059882, MYO1C	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1270759	NM_001080779.2(MYO1C):c.1670-17C>T	LOC130059879, MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242007	NM_001080779.2(MYO1C):c.1670-16G>A	LOC130059879, MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682791	NM_001080779.2(MYO1C):c.76-1475G>A	LOC130059882, MYO1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682782	NM_001080779.2(MYO1C):c.76-1509_76-1498dup	LOC130059882, MYO1C	Duplication (intron variant)	not provided	GBenign

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