"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MYO5B"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1626596	NM_001080467.3(MYO5B):c.4764C>T (p.Thr1588=)	SNHG22, MYO5B	Single nucleotide variant (synonymous variant)	Congenital microvillous atrophy +2 more	GLikely benign
Select item 711603	NM_001080467.3(MYO5B):c.4481C>T (p.Ser1494Leu)	SNHG22, MYO5B (S1494L)	Single nucleotide variant (missense variant)	MYO5B-related disorder +3 more	GBenign/Likely benign
Select item 1349914	NM_001080467.3(MYO5B):c.3738G>C (p.Gln1246His)	MYO5B (Q1246H)	Single nucleotide variant (missense variant)	Congenital microvillous atrophy +2 more	GUncertain significance
Select item 327027	NM_001080467.3(MYO5B):c.3432G>A (p.Thr1144=)	MYO5B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 327052	NM_001080467.3(MYO5B):c.2076T>C (p.Ala692=)	MYO5B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 786341	NM_001080467.3(MYO5B):c.1793C>T (p.Pro598Leu)	MYO5B (P598L)	Single nucleotide variant (missense variant)	Congenital microvillous atrophy +2 more	GBenign
Select item 1436086	NM_001080467.3(MYO5B):c.1325T>C (p.Phe442Ser)	MYO5B (F442S)	Single nucleotide variant (missense variant)	Congenital microvillous atrophy +2 more	GUncertain significance
Select item 327092	NM_001080467.3(MYO5B):c.28T>G (p.Cys10Gly)	MYO5B (C10G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign