"Clinical Genetics, Academic Medical Center"[submitter] AND "PANK2"[ge - 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 425264	NM_153638.4(PANK2):c.137A>T (p.Asp46Val)	PANK2 (D46V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 444564	NM_153638.4(PANK2):c.276G>A (p.Arg92=)	LOC130065345, PANK2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1215332	NM_001386393.1(PANK2):c.1083-13dup	PANK2	Duplication (intron variant)	not provided	GLikely benign

Format

Sort by

Choose Destination