"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126861535"[gen - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94038	NM_002206.3(ITGA7):c.2087C>T (p.Ser696Leu)	ITGA7, LOC126861535 (S696L +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance
Select item 287413	NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met)	ITGA7, LOC126861535 (L679M +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance