"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130062487" - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 327094	NM_001080467.3(MYO5B):c.-48C>G	LOC130062487, MYO5B	Single nucleotide variant (5 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 891469	NM_001080467.3(MYO5B):c.-85G>T	MYO5B, LOC130062487	Single nucleotide variant (5 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 891724	NM_001080467.3(MYO5B):c.-93C>T	LOC130062487, MYO5B	Single nucleotide variant (5 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 327095	NM_001080467.3(MYO5B):c.-98C>T	LOC130062487, MYO5B	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 891725	NM_001080467.3(MYO5B):c.-108C>T	LOC130062487, MYO5B	Single nucleotide variant (5 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 327096	NM_001080467.3(MYO5B):c.-176G>T	LOC130062487, MYO5B	Single nucleotide variant (5 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 327097	NM_001080467.3(MYO5B):c.-177C>A	LOC130062487, MYO5B	Single nucleotide variant (5 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 327098	NM_001080467.3(MYO5B):c.-242C>G	LOC130062487, MYO5B	Single nucleotide variant (5 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance
Select item 327099	NM_001080467.3(MYO5B):c.-257GCGGC[3]	LOC130062487, MYO5B	Microsatellite (5 prime UTR variant)	Diarrhea with Microvillus Atrophy	GUncertain significance
Select item 327100	NM_001080467.3(MYO5B):c.-258T>G	LOC130062487, MYO5B	Single nucleotide variant (5 prime UTR variant)	Congenital microvillous atrophy	GUncertain significance