Related gene-specific medical variations for Gene (Select 140469) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297854	NM_138995.5(MYO3B):c.3904G>A (p.Asp1302Asn)	LOC100130256, MYO3B (D1302N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615038	NM_138995.5(MYO3B):c.3772C>T (p.Arg1258Cys)	LOC100130256, MYO3B (R1231C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552745	NM_138995.5(MYO3B):c.3965A>G (p.Asn1322Ser)	LOC100130256, MYO3B (N1295S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388796	NM_138995.5(MYO3B):c.3776G>A (p.Arg1259Gln)	LOC100130256, MYO3B (R1232Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204586	NM_138995.5(MYO3B):c.3960G>C (p.Glu1320Asp)	LOC100130256, MYO3B (E1293D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808787	GRCh37/hg19 2q31.1(chr2:171078637-171160209)x1	MYO3B	Copy number loss	not provided	GUncertain significance
Select item 562482	GRCh37/hg19 2q31.1(chr2:171153453-171204137)x1	MYO3B	Copy number loss	not provided	GUncertain significance

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