"Ambry Genetics"[submitter] AND "LOC130062255"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1776788	NM_020774.4(MIB1):c.162C>T (p.Asn54=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1778738	NM_020774.4(MIB1):c.171T>C (p.Ala57=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1208681	NM_020774.4(MIB1):c.180C>T (p.Tyr60=)	MIB1, LOC130062255	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 390868	NM_020774.4(MIB1):c.201C>T (p.Asp67=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1785027	NM_020774.4(MIB1):c.204C>T (p.Leu68=)	LOC130062255, MIB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign

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